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Pengaruh Mutasi Gen AMELX terhadap

Amelogenesis Imperfecta
DAFTAR PUSTAKA

1. Coxon TL, Brook AH, Barron MJ, Smith RN. Phenotype - Genotype
Correlations in Mouse Models of Amelogenesis Imperfecta Caused by Amelx
and Enam Mutations. Karger AG. 1-9. 2012.
2. Barron MJ, Brookes SJ, Kirkham J, Shore RC, et al. A Mutation in The Mouse
Amelx tri-tyrosyl Domain Results in Impaired Secretion of Amelogenin and
Phenocopies Human X-linked Amelogenesis Imperfecta. Vol.19 (7) : 2 7.
2010.
3. Emin Murat Canger, Peruze Celenk, Murat Yenisey and Selcen Zeynep
Odyakmaz. Amelogenesis Imperfecta, hypoplastic type associated with some
dental abnormalities: a case report. Braz. Dent. J. [online]. Vol. 21 (2) : 170174. 2010.
4. Hu JC, Chun YH, Al Hazzazzi T, Simmer JP. Enamel Formation and
Amelogenesis Imperfecta. Karger AG. 283. 2007.
5. Patel A, Chaudhary AR, Dudhia B, Soni N, et al. Amelogenesis Imperfecta a
case report. The Journal of Ahmedabad Dental College and Hospital. 39 43.
2011.
6. Hu JC, Chaun HC, Simmer SG, Seymen F, et al. Amelogenesis Imperfecta in
Two Families with Defined AMELX Deletions in ARHGAP6. Plos One. 2012.
7. Ho EHT. Amelogenesis imperfecta - a case report. Kong Dental Journal. Vol. 3
(2) : 123-7. 2006.
8. Crawford PJM, Aldred M, Zupan AB. Amelogenesis Imperfecta. Orphanet
Journal of rare diseases. Vol. 17 (2) : 1-11. 2007.
9. Canger EM, Celenk P, Yenisey M, Odyakmaz SZ. Amelogenesis Imperfecta,
hypoplastic type associated with some dental abnormalities: a case
report. Braz. Dent. J. [online]. Vol. 21(2): 170-174. 2010.
PENGARUH SOX9 TERHADAP KARTILAGO MANDIBULA
Daftar Pustaka

1. Shibata S, Suda N, Suzuki S, Fukuoka H, Yamashita Y. An in situ


hybridization study of Runx2, Osterix, and Sox9 at the onset of condylar
cartilage formation in fetal mouse mandible. Anatomical Society of Great
Britain and Ireland.171-180:2006
2. Zhang H, Zhao Z, Zhang Z, Chen W, Zhang X. An Immunohistochemistry
Study of Sox9, Runx2, and Osterix xpression in the Mandibular Cartilages
of Newborn Mouse. BioMed Research International.1-11. 2013
3.

Foster TD. Buku Ajar Orthodonsi Edisi III.Jakarta:EGC.hal 13

4. Yang AF, Wong RW, Hgg UO, and Rabie AB. Factors regulating condylar
cartilage growth under repeated load application. Frontiers in Bioscience
11, 949-954.2006
5. Selvi R, Mukunda PA.Role of SOX9 in the Etiology of Pierre-Robin
Syndrome. Iranian Journal of Basic Medical Sciences. Vol. 16: 700704.:2013
6. Jamshidi N, I Macciocca, Dargaville PA, Thomas P, Kilpatrick N, Gardner
RJ, and others. Isolated Robin sequence associated with a balanced t(2;17)
chromosomal translocation. J Med Genet 2004 41: e1.2004
7. Selvi R, Priyanka AM. Role of SOX9 in the Etiology of Pierre-Robin
Syndrome. Iran J Basic Med Sci 2013; 16:700-04.2013

Pengaruh Mutasi Gen FAM83H


terhadap Amelogenesis Imperfecta
DAFTAR PUSTAKA

1. W. El-Sayed, R.C. Shore, D.A. Parry, C.F. Inglehearn, A.J. Mighell.


Ultrastructural Analyses of Deciduous Teeth Affected by
Hypocalcified Amelogenesis Imperfecta from a Family with a
Novel Y458X FAM83H Nonsense Mutation Cells Tissue Organs
2010;1991:235-239. 2009.
2. J.T. Wright, S. Frazier-Bowers, D. Simmons, K. Alexander,P.
Crawford, S.T. Han, et al. Phenotypic Variation in FAM83Hassociated Amelogenesis Imperfecta. J Dent Rest 88 (4): 356360. 2009.
3. M. Ghandehari Motlagh, F. Mohandes, H. Noori-Daloii, C. Azimi,
M.R. Noori-Daloii, A. Ebrahimi Takalo, et al. Mutation Screening of
ENAM, KLK4, MMP20 and FAM83H Genes among the Members of
Five Iranian Families Affected with Autosomal Recessive
Hypoplastic Amelogenesis Imperfecta.Journal of Sciences,
Islamic Republic of Iran 22 (4): 305-310. 2011.
4. Scully,C. Cawson,RA. 1991. Atlas bantu Kedokteran Gigi (alih
bahasa oleh Lilian Yuwono). Jakarta: Hipokrates.
5. Mendoza G, Pemberton TJ, Lee K, Scarel-Caminaga R, MehrianShai R, Gonzalez-Quevedo C, Ninis V, et al. A new locus for
autosomal dominant amelogenesis imperfecta on chromosome
8q24.3. Hum Genet 120:653-662. 2007.
6. Putri,MH. Herijulianti,E. Nurjannah,N. 2009. Ilmu Pencegahan
Penyakit Jaringan Keras dan Jaringan Pendukung Gigi. Jakarta:
EGC.

Kim JW, Lee SK, Lee ZH, Park JC, Lee KE, Lee MH, et al. FAM83H
Mutations in Families with Autosomal-Dominant Hypocalcified Amelogenesis
Imperfecta. Am J Hum Genet 82:489-494. 2008

HISTATIN DALAM SALIVA SEBAGAI PENYEMBUH LUKA


RONGGA MULUT
Referensi
1. Oudhoff, et al. Histatins are the major wound-closure stimulating factors
in human saliva as identified in a cell culture assay. Faseb Journal. 2008.
2. De Ameida, et al. Saliva composition and functions: a comprehensive
review. The Journal of Contemporary Dental Practice. 2008.
3. usu.ac.id
4. Brand. HS, Veerman. ECI. Saliva and Wound Healing. The Chinese
Journal of Dental Research. 2013; 11.
5. Niyonsaba, F., Ushio, H., Nakano, N., Ng, W., Sayama, K., Hashimoto, K.,
Nagaoka, I., Okumura, K., and Ogawa, H. Antimicrobial peptides human
beta-defensins stimulate epidermal keratinocyte migration, proliferation
and production of proinflammatory cytokines and chemokines. J. Invest.
2007.
6. Sun, X., Salih, E., Oppenheim, FG., Helmerhorst, EJ. Kinetics of histatin
proteolysis in whole saliva and the effect of bioactive domains with metal
binding, anti-fungal, and wound-healing properties. FASEB J. 2009.
7. Oudhoff, et al. Structure-activity analysis of histatin, a potent wound
healing peptide of human saliva: cyclization of histatin potentiates molar
activity 1000-fold. FASEB J. 2009.

PENGARUH 2,3,7,8 TETRACHLORODIBENZO-PDIOXIN TERHADAP TERJADINYA CELAH


PALATUM
DAFTAR PUSTAKA
1. Tami L. Thomae, Emily A. Stevens, Adam L. Liss, Norman R. Drinkwater,
and Christopher A. Bradfield. The Teratogenic Sensitivity to 2,3,7,8Tetrachlorodibenzo-pdioxin Is Modified by a Locus on Mouse
Chromosome 3. Molecular Pharmalogy Vol. 69, No. 3. 2006. Available
from : http://molpharm.aspetjournals.org/content/69/3/770.full.pdf+html.
Diakses 3 september 2013
2. Kumiko Fujiwara, Tomohiro Yamada, Katsuaki Mishima, Hideto Imura,
and Toshio Sugahara. Morphological and immunohistochemical studies on
cleft palates induced by 2,3,7,8-tetrachlorodibenzo-p-dioxin in mice. 2008.
http://onlinelibrary.wiley.com/doi/10.1111/j.1741-4520.2008.00181.x/pdf.
diakses pad 10 september 2013
3. Barbara D. Abbott, Angela R. Buckalew, Michael J. DeVito, David Ross,
P. LaMont Bryant, and Judith E. Schmid. EGF and TGF-_ Expression
Influence the Developmental Toxicity of TCDD: Dose Response and AhR
Phenotype in EGF, TGF-_, and EGF _ TGF-_ Knockout Mice. 2003.
Downloaded from http://toxsci.oxfordjournals.org/ by guest on September
20, 2013
4. Thomae TL, Stevens EA, and Bradfield CA (2005). Transforming growth
factor-_3 restores fusion in palatal shelves exposed to 2,3,7,8
tetrachlorodibenzo-p-dioxin. J Biol Chem 280:1274212746.
5. IOM (institute of medicine). 2007. Veterans and Agent Orange: update
2006. Washington, DC : The national acadmic press. P.17-47;110-116
6. http://lontar.ui.ac.id/file?file=digital/126176-R18-KON-159%20Distribusi
%20frekuensi-Literatur.pdf. Diakses 28 september 2013
7. Ratnam S. Seelan, Partha Mukhopadhyay, M. Michele Pisano, and Robert
M. Greene. Developmental Epigenetics of the Murine Secondary Palate.
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September 3, 2013
8. Cobourne, T Martyn. The complex genetic of cleft lip and palate.
European journal of orthodontic. 2004, vol 26 no.1. diakses September 3,
2013

PENGARUH TGFA (TRANSFORMING GROWTH FACTOR ALPHA)


TERHADAP CELAH BIBIR
Referensi
1. Murray JC. Gene/environment causes of cleft lip and/or palate. Clin Genet
Vol 61 : 248-56. 2002.
2. Edison RJ, Muenke M. Central nervous system and limb anomalies in case
reports of first-trimester statin exposure. N Engl J Med Vol 350 : 157982.
2004.
3. Avila JR, Jezewski PA, Vieira AR, Orioli IM, Castilla EE. (2006) PVRL1
variants contribute to non-syndromic cleft lip and palate in multiple
populations. Am J Med Genet A Vol 140: 2562570. 2006.
4. Rahman Roselinda Abdul, Ahmad Azlina, Rahman Zainal Ariff Abdul,
Mokhtar Khairani Idah, Lah Nik Ahmad Shah Nik, Zilfalil Alwi.
Transforming Growth Factor-a and Nonsyndromic Cleft Lip With or
Without Palate or Cleft Palate Only in Kelantan, Malaysia. Cleft Palate
Craniofacial Journal Vol. 45 : 583-6. 2008.
5. Vieira AR, Avila JR, Daack-Hirsch S. Medical sequencing of candidate
genes for nonsyndromic cleft lip and palate. PLoS Genet Vol 1 : 64. 2005.
6. Sull JW, Liang KY, Hetmanski JB, Wu T, Fallin MD. Evidence that TGFA
influences risk to cleft lip with/without cleft palate through unconventional
genetic mechanisms. Hum Genet Vol 126: 38594. 2009.
7. Mossey PA, Little J. Epidemiology of oral clefts: an international
perspective. In: Wyszynski DF, ed. Cleft lip and palate: from origin to
treatment. New York, NY: Oxford University Press : 12758. 2002.
8. Machida J, Yoshiura K, Funkhauser CD, Natsume N, Kawai T.
Transforming growth factor-alpha (TGFA): genomic structure, boundary
sequences, and mutation analysis in nonsyndromic cleft lip/palate and cleft
palate only. Genomics Vol 61: 23742. 1999.
9. Letra A, Fakhouri W, Fonseca RF, Menezes R, Kempa I. Interaction
between IRF6 and TGFA genes contribute to the risk of nonsyndromic
cleft lip/palate. PLoS One Vol 7: 45441. 2012.

PENGARUH BMP-4 TERHADAP


CELAH PALATUM

Refrensi
1. Muscari, Mary E. 2005. Keperawatan Pediatrik Edisi 3. Jakarta: EGC.
Hlm. 211
2. Betz, Cecily Lyin; Sowden, Linda A .2003. Buku Saku Keperawatan
Pediatri Edisi 5. Jakarta: EGC. Hlm 98.
3. Thumati, Prafulla. 2006. Essentials of Prosthodontics. New Delhi: n
Jaypes Brothers Medical Publisher. Page: 113-115
4. Georg.C.Schwabe, Charlotte Opotz, Sigrid Tinschert, Stefan Mundlos,
Paul T Sharpe. Molecilar Mechanisms of tooth developement and
malformation. A review. Oral Biosci Med 2004; 1:77-91
5. Wei Liu, Xiaoxia Sun, Alen Braut, Yuji Mishina, Richard R. Behringer,
Mina Mina4 and James F. Martin. Distinct functions for Bmp signaling in
lip and palate fusion in mice. The Company of Biologists 2005
doi:10.1242/dev.01676
6. Jos Suazo, Julio C Tapia2, Jos Luis Santos, Vctor G Castro, Alicia
Colombo, Rafael Blanco. Risk variants in BMP4 promoters for
nonsyndromic cleft lip/palate in a Chilean Population. Suazo et al. BMC
Medical Genetics 2011, 12:163
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Shaw. Cleft lip and palate. A review. Lancet 2009; 374: 177385
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Tipoe. Overexpression of iNOS and down-regulation of BMPs-2,
4 and 7 in retinoic acid induced cleft palate formation. Histol Histopathol
(2004) 19: 95-104

PENGARUH MSX1 TERHADAP


PERKEMBANGAN JUMLAH GIGI
Daftar Pustaka
1. Elisangela R. Silva, Claudio R. Reis-Filho, Marcelo H. Napimoga and
Jose B. Alves. Polymorphism in the Msx1 gene associated with
hypodontia in a Brazilian family. J of Oral Science, Vol. 51, No. 3, 341345, 2009.
2. Roger E. Stevenson, Judith G. Human Malformations and Related
Anomalies. 2nd Ed. Oxford University Press, 2005.
3. John Ide Ingle, Leif K. Bakland. Endodontics. PMPH-USA, 2002. p. 2528.
4. De Coster PJ, Marks LA, Martens LC, Huysseune A. Dental agenesis:
genetic and clinical perspective. J Oral Pathol Med 2009;38(1): 1-17.
5. Agnes Bloch-Zupan, Heddie O. Sedano, Crispian Scully.
Dento/Oro/Craniofacial Anomalies and Genetics. Elsevier Insights, 2012.
6. Adrianna Mostowska, Barbara Biedziak, Pawel P. Jagodzinski. Novel
MSX1 mutation in a family with autosomal-dominant hypodontia of
second premolars and third molars. Elsevier: Archives of Oral Biology 57
(2012): 790-795.
7. Adrianna Mostowska, Barbara Biedziak, Wieslaw H. Trzeciak. A novel
c.581C>T transition localized in a highly conserved homeobox sequence
of MSX1: is it responsible for oligodontia?. J Appl Genet 47(2), 2006, p.
159164.
8. Sharat Chandra Pani. The genetic basis of tooth agenesis: Basic concepts
and genes involved. J Indian Soc Pedod Prev Dent 2011;29:84-9.
9. Y. Wang, H. Kong, G. Mues, and R. DSouza. Msx1 Mutations: How Do
They Cause Tooth Agenesis?. J Dent Res 90(3):311-316, 2011.
10. Nieminen P, Kotilainen J, Aalto Y, Knuutila S, Pirinen S, Thesleff I. MSX1
gene is deleted in Wolf-Hirschhorn syndrome patients with oligodontia. J
Dent Res. 2003 Dec;82(12):1013-7.
11. Mostowska A, Kobielak A, Trzeciak WH. "Molecular basis of nonsyndromic tooth agenesis: mutations of MSX1 and PAX9 reflect their role
in patterning human dentition". Eur. J. Oral Sci. 111 (5): 36570. 2003.
12. Stephan P. K. Tan, Arjen J. van Wijk and Birte Prahl-Andersen. Severe
hypodontia: identifying patterns of human tooth agenesis. European
Journal of Orthodontics 33 (2011) 150154.
13. Mitsushiro Nakatom, Xiu-Ping Wang, Darren Key, Jennifer J. Lund,
Annick Turbe-Doan, Ralf Kist, Andrew Aw, Yiping Chen, Richard L.
Maas, Heiko Peters. Genetic interactions between Pax9 and Msx1 regulate
lip development and several stages of tooth morphogenesis.
Developmental Biology 340 (2010) 438449.

Pengaruh MTHFR Terhadap Celah Bibir


Referensi
1. Sarjadi. Patologi umum dan sistemik Vol 1 edisi 2. Jakarta: EGC.1999:112
2. Gaspar DA, Matioli RS, Pavanello RC, Araujo BC, Alonso N, Wyszynski D
Maternal MTHFR interacts with the offsprings BCL3 genotypes, but not
with TGFA, in increasing risk tononsyndromic cleft lip with or without cleft
palate. European Journal of Human Genetics.2004;12:521
3. Sumita pal. A study of MTHFR polymorphisms patients with nonsyndromic
orofacial cleft and their parents.july 2009 : 11
4. Respository.usu.ac.id
5. Jusufagi AS, Bircan R, elebiler O, Erdim M, Akarsu N, Eliolu NH.
Association between C677T and A1298C MTHFR gene polymorphism and
nonsyndromic orofacial clefts in the Turkish population: a case-parent study.
The Turkish Journal of Pediatrics 2012; 54: 618
6. Frosst P, Blom HJ, Milos R et al: A candidate genetic risk factor for vascular
disease: a common mutation in methylenetetrahydrofolate reductase. Nat
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the homocysteine metabolism pathway. Clin Genet 2005; 57: 230-231.
8. Boduroglu K, Alikasifoglu M, Anar B, Tuncbilek E. Association of the
677C-->T mutation on the methylenetetrahydrofolate reductase gene in
Turkish patients with neural tube defects. J Child Neurol 2003;14: 159-161

PENGARUH MUTASI GEN IRF-6 TERHADAP


SUMBING PALATUM
Referensi
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Clefting. Semin Orthod 2008;14(2):103-114.
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clefts revisited. Cleft Palate Craniofac J 1996;33(5):406-17.
3. Blanton SH, Cortez A, Stal S, Mulliken JB, Finnell RH, Hecht JT.
Variation in IRF6 contributes to nonsyndromic cleft lip and palate. Am J
Med Genet A 2005;137A(3):259-62.
4. Ghassib M, Bayet B, Revencu N, Verellen-Dumoulin C, Gillerot Y,
Vanwijck R, et al. Interferon regulatory factor-6: a gene predisposing to
isolated cleft lip with or without cleft palate in the Belgian population. Eur
J Hum Genet 2005;13(11):1239-42.
5. Indian Genome Variation Consortium. Genetic landscape of the people of
India: a canvas for disease gene exploration. J Genet2008;87(1):3-20.
6. Nemana LJ, Marazita ML, Melnick M. Genetic analysis of cleft lip with or
without cleft palate in Madras, India. Am J Med Genet 1992;42(1):5-9.
7. Mossey P, Little J. Addressing the challenges of cleft lip and palate
research in India. Indian J Plast Surg 2009;42 Suppl:S9-S18.
8. Park JW, McIntosh I, Hetmanski JB, Jabs EW, Vander Kolk CA, Wu-Chou
YH, et al. Association between IRF6 and nonsyndromic cleft lip with or
without cleft palate in four populations. Genet Med 2007;9(4):219-27.
9. Scapoli L, Palmieri A, Martinelli M, Pezzetti F, Carinci P, Tognon M,
Carinci F. Strong evidence of linkage disequilibrium between
polymorphisms at the IRF6 locus and nonsyndromic cleft lip with or
without cleft palate, in an Italian population. Am J Hum Genet
2005;76(1):180-3.
10. Vieira AR, Cooper ME, Marazita ML, Orioli IM, Castilla EE. Interferon
regulatory factor 6 (IRF6) is associated with oral-facial cleft in individuals
that originate in South America. Am J Med Genet A 2007;143A(17):20758.
11. Pan Y, Ma J, Zhang W, Du Y, Niu Y, Wang M, et al. IRF6 polymorphisms
are associated with nonsyndromic orofacial clefts in a Chinese Han
population. Am J Med Genet A 2010;152A(10):2505-11
12. Zeiger JS, Beaty TH, Liang KY. Oral clefts, maternal smoking, and TGFA:
a meta-analysis of gene-environment interaction. Cleft Palate Craniofac J
2005;42(1):58-63.
13. 30. Yuzuriha S, Mulliken JB (November 2008). Minor-form, microform,
and mini-microform cleft lip: anatomical features, operative techniques,
and revisions. Plast. Reconstr. Surg.122 (5): 148593.

14. 31. Tosun Z, Honuter M, Sentrk S, Savaci N (2003). Reconstruction of


microform cleft lip. Scand J Plast Reconstr Surg Hand Surg 37 (4): 232
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15. 32. Dudas M, Li WY, Kim J, Yang A, Kaartinen V (2007). Palatal fusion
where do the midline cells go? A review on cleft palate, a major human
birth defect. Acta Histochem. 109 (1): 114.
16. Dudas M, Li WY, Kim J, Yang A, Kaartinen V (2007). Palatal fusion
where do the midline cells go? A review on cleft palate, a major human
birth defect. Acta Histochem. 109 (1): 114.
17. Bailey CM, Abbott DE, Margaryan NV, Khalkhali-Ellis Z, Hendrix MJ.
Interferon regulatory factor 6 promotes cell cycle arrest and is regulated by
the proteasome in a cell cycle-dependent manner. Mol Cell Biol. 2008
Apr;28(7):2235-43. doi: 10.1128/MCB.01866-07. Epub 2008 Jan 22.
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18. Park JW, McIntosh I, Hetmanski JB, Jabs EW, Vander Kolk CA, Wu-Chou
YH, Chen PK, Chong SS, Yeow V, Jee SH, Park BY, Fallin MD, Ingersoll
R, Scott AF, Beaty TH. Association between IRF6 and nonsyndromic cleft
lip with or without cleft palate in four populations. Genet Med. 2007
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trait. Curr Opin Genet Dev 2005;15(3):270-8.
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21. Rahimov F, et al. Disruption of an AP-2 binding site in an IRF6 enhancer
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Peran Human -Defensin Sebagai Antijamur dalam Rongga Mulut


Daftar Pustaka
1. Kkkolba, H., Kkkolba, S., Dursun, R., Ayyldz, F., Kara, H.. 2011.
Determination of defensins HNP-1 in human saliva of patients with oral
mucosal diseases. Journal of Immunoassay and Immunochemistry, 32:4, 284-5.
2. Vylkova, S., Nayyar N., Li, W., Edgerton, M.. 2007. Human -defensins kill
Candida albicans in an energy-dependent and salt-sensitive manner without
causing membrane disruption. Antimicrobial Agents and Chemotherapy, 51:1,
154-60.
3. Vylkova, S., Li, X. S., Berner, J. C., Edgerton, M.. 2006. Distinct antifungal
mechanisms: -defensins require Candida albicans Ssa1 protein, while Trk1p
mediates activity of cysteine-free cationic peptides. Antimicrobial Agents and
Chemotherapy, 50:1, 324, 329-30.
4. Cederlund, A., Gudmundsson, G. H., Agerberth, B.. 2003. Antimicrobial
peprides important in innate immunity. FEBS Journal, 278, 3943.
5. Ganz, T.. 2003. Defensins: antimicrobial peptides of innate immunity.
Immunology, 3, 710, 712-13.
6. Lu, Q., Jayatilake, J.A.M.S., Samaranayake, L. P., Jin, L.. 2006. Hyphal
invasion of Candida albicans inhibits the expression of human -defensins in
experimental oral candidiasis. The Society for Investigate Dermatology, 126,
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7. Diamond, G., Ryan, L. K.. 2011. Beta-defensins: what are they really doing in
the oral cavity?. Oral Dis. 17:7, 629.
8. Klotman, M. E., Chang, T. L.. 2006. Defensins in innate antiviral immunity.
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primeval molecules or future drugs?. PLoS Pathogens, 6:10, 3.

Pengaruh Mutasi DSPP terhadap Dentin Dysplasia


Daftar Pustaka
1. Harty F.J, Ogston.R;alih bahasa, Sumawinata Narlan.1995.Kamus
Kedokteran Gigi.Jakarta : EGC.
2. Simmer James P, Arbor Ann,Mich.2007.Molecular Evolution and
Genetic Defects of Teeth.Switzerland : Karger AG.
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of Mineral Metabolisme Eight edition.Wiley-BlACKWELL.
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Pengaruh FGF10 Terhadap Terjadinya Celah Palatum


Referensi
1. Underwood, J.C.E., alih bahasa: Sarjadi. 1999. Patologi Umum dan
Sistematik, vol.1 edisi 2. Jakarta: EGC.
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Pediarti Edisi 5. Jakarta : EGC
3. Stainer, Philip and Moore, G. E. Genetics of Cleft Lip and Palate: Syndromic
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4. Rice R., Spencer-Dene B., Connor E. C., Gritli-Linde A., McMahon A.P.,
Dickson C., et all. Disruption of Fgf10/Fgfr2b coordinated epithelialmesenchymal interactions causes cleft palate. Journal of Clinic Investigation,
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Langman, Ed. 10. Jakarta: EGC.
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PENGARUH KELAHIRAN PREMATUR DAN BERAT BADAN LAHIR


RENDAH TERHADAP ERUPSI GIGI
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PENGARUH SONIC HEDGEHOG (SHH) TERHADAP CLEFT


PALATE
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PENGARUH GEN CLCN7 TERHADAP OSTEOPETROSIS


Daftar pustaka
1. Tandra, Hans. 2009. Segala sesuatu yang harus anda ketahui
tentang osteoporosis mengenal, mengatasi, dan mencegah tulang
keropos. Jakarta: PT. Gramedia Pustaka Utama. Hal 28.
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Polymorphisms in the CLCN7 gene modulate bone density in
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Pengaruh Mutasi Gen MSX1 terhadap


Terjadinya Celah Palatum
DAFTAR PUSTAKA
1. Indah Irma, S. Ayu Intan. 2013. Penyakit Gigi, Mulut dan THT. Cetakan
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Jakarta. EGC.
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Nonsyndromic Oral Clefts in a Southern Brazilian Population.Brazilian
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4. L. Saikrishna, L. Bhaskar, M. Rajasekhar. Molecular Genetics of
Nonsyndromic Clefts Revisited. International Journal of Genetic. Vol 3
(1). 2011: 23-7.
5. Lee Hae-Kyung, Kim Seong-Sik, Son Woo-Sung. Characteristics of
MSX1 gene in Korean nonsyndromic Cleft Lip and Palate individuals.
2008: 133-42.
6. Singh Varun P, Ramu Dinesh. Association of MSX1 799 G>T variant with
nonsyndromic Cleft Lip/Palate in South Indian adolescent patients.
International Journal of Paediatric Dentistry. 2012; 22: 228-31.
7. Lace Baiba, Vasijeva Inta, Dundure Indra, Barkane Biruta, Akota Ilze,
Krumina Astrida. Mutation analysis of the MSX1 gene exons and intron in
patients with nonsyndromic cleft lip and palate. Stomatologija, Baltic
Dental and Maxillofacial Journal.2006; 8:21-4.
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transcript during development. Nucleic Acids Res. 2005; 33(16): 520818.
9. Zhang Z., Lan Y., hai Y and Jiang R. Antagonistic actions of Msx1 and
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11

PERAN MUCIN SALIVA SEBAGAI ANTIFUNGAL


DAFTAR PUSTAKA
1. Guo-Xian Wei and Libuse A. Bobek. 2005.Human Salivary Mucin MUC7
12-Mer-L and 12-Mer-D Peptides: Antifungal Activity in Saliva,
Enhancement of Activity with Protease Inhibitor Cocktail or EDTA, and
Cytotoxicity to Human Cells. Antimicrob. Agents Chemother[Internet].
49(6):2336-2342.
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2. Donna L. wong, Marilyn Hockenberry-Eaton, David Wilson, Marilyn L.
Winkelstein, Patricia Schwartz. 2008. 6thed vol. 1. Jakarta: EGC
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4. Guo-Xian Wei, Libuse A Bobek. 2004. In vitro synergic antifungal effect
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& Cancer Research Training Program, Universityof Nebraska Medical
Center Omaha.
7. Hongsa Situ, Guoxian Wei, Christina J. Smith, ShirinMashhoon, Libuse A.
Bobek. 2003. Human salivary MUC7 mucin peptides: effect of size,
charge and cysteine residues on antifungal activity. Biochem.Journal
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1223654/pdf/12812519.pdf

Pengaruh TGF Beta terhadap Terjadinya Cleft Lip


DAFTAR PUSTAKA
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3. Wornom IL, Will LA, Berkowitz S, Burdi AR, Ilveira ACDS, Dermarderosian
J, Drake AF, et al. Cleft lip and palate diagnosis and management. ed.2 nd.
Germany. Springer-verlag berlin Heidelberg. 2006. p.283-6
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developmental disorders. New York. Oxford University Press, Madison
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is required for upper lip fusion. National Institutes of Health, Mech Dev.
2008 ; 125(9-10): 874882.
9. Stoll C, Mengsteab S, Stoll D, Riediger D, Gressner AM, Weiskirchen R.
Analysis of polymorphic TGFB1 codons 10, 25, and 263 in a German patient
group with non-syndromic cleft lip, alveolus, and palate compared with
healthy adults. BMC Medical Genetics 2004, 5:15
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Peran SIgA Sebagai Respon Imun Dalam Rongga Mulut


DAFTAR PUSTAKA
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Dental Practise vol.9 No.3 2008.


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PENGARUH MUTASI KALIKREIN PEPTIDASE 4 TERHADAP


AMELOGENESIS IMPERFECTA
DAFTAR PUSTAKA
1. Gunawan, Harun A. Buku Ajar Oral Biologi 1; edisi kedua. Jakarta:
Bagian Biologi Oral Fakultas Kedokteran Gigi Universitas Indonesia.
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https://www.dentistry.unc.edu/research/defects/pages/ai.htm (diakses pada
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Shahrabi, AR Nazarian, R Raoofian, F Mahbubinejad, M Heidari. No
Evidence for Association between Amelogenesis Imperfecta and
Candidate Genes. Tehran: Tehran University of Medical Science. 2008.
5. Motlagh, M. Ghandehari, F. Mohandes, H. Noori-Daloii, C. Azimi, M. R.
Noori-Daloii, A. Ebrahimi Takalo, M. Ghavam, S. Saee-Rad, G. Meighani,
J. Pourhashemi, dan M. Heidari. Mutation Screening of ENAM, KLK4,
MMP20, and FAM83H Genes among the Members of Five Iranian
Families Affected with Autosomal Recessive Hypoplastic Amelogenesis
Imperfecta.Tehran: Tehran University of Medical Science. 2011.
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PENGARUH MUTASI DSPP TERHADAP DENTINOGENESIS


IMPERFECTA
DaftarPustaka
1. D. A. McKnight, P. S. Hart, T. C. Hart et al., A comprehensiveanalysis of
normal variation and disease-causing mutations inthe human DSPP gene,
Human Mutation, vol. 29, no. 12, pp.13921404, 2008.
2. J. W. Kim and J. P. Simmer, Hereditary dentin defects, Journalof Dental
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3. Z. von Marschall and L. W. Fisher, Dentin sialophosphoprotein(DSPP) is
cleaved into its two natural dentin matrix productsby three isoforms of
bone morphogenetic protein-1 (BMP1),Matrix Biology, vol. 29, no. 4, pp.
295303, 2010.
4. Y. Yamakoshi, J. C. C. Hu, T. Iwata, K. Kobayashi, M. Fukae,and J. P.
Simmer, Dentin sialophosphoprotein is processed byMMP-2 and MMP20 in vitro and in vivo, Journal of BiologicalChemistry, vol. 281, no. 50,
pp. 3823538243, 2006.J. Zhang, J. Wang, Y. Ma et al., A novel splicing
mutation alters.
5. Lee Soo-Kyung,

Kyung-Eun

Lee

dkk.A

DSPP

Mutation

CasusingDentinogenesisImperfecta and Characterization of th Mutational


Effect. Biomed Research International. September 2012;Vol 2013.
6. Zhang Xianqin, Chen Lanying, dkk. Novel DSPP mutation is associated
with type II dentinogenesisImperfecta in a chinese family. BMC Medical
Genetics;Agustus 2007;8:52.
7. BaiHaihua, AgulaHasidkk.A

Novel

DSPP

Mutation

causes

dentinogenesis imperfect type II in a large Mongolian Family. BMC


Medical Genetics 2010;11:23.

PENGARUH FLUORIDE TERHADAP FLUOROSIS


GIGI
DAFTAR PUSTAKA
1. Harty F.J ,& Ogston.R .Kamus Kedokteran Gigi, (Alih Bahasa, Narlan
Sumawinata). Jakarta : EGC .2012.
2. Rizwan S, Rizwan M, Naveed A, Ahsan W. incidence of dental fluorosis
among the patients visiting the university of Lahore dental collage /
hospital a study. Pakistan Oral & Dental Journal Vol 30 No 1 . (2010).
3. Mara Dolores Jimnez-Farfn, Juan Carlos Hernndez-Guerrero,Lilia
Adriana Jurez-Lpez, Luis Fernando Jacinto-Alemn, and Javier de la
Fuente Hernndez. Fluoride Consumption and Its Impact on Oral Health.
Int J Environ Res Public Health. 8(1): 148160. (January 2011) .
4. Bhagavatula Naga, V R N Pradeep. Fluorosis in the early permanent
dentition: evaluating gene-environment interactions. Master's thesis,
University of Iowa, 2009.
5. Hong L, Levy SM, Warren JJ, Broffitt B, Cavanaugh J. Fluoride intake
levels in relation
to fluorosis development in permanent maxillary central incisors and first
molars. Caries
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6. Buzalaf M.A.R .Fluoride and the Oral Environment (ed 1), Monogr Oral
Sci, Vol.22. Karger ,ISSN 0077-0892, Basel, Switzerland.2011.
7. Levy SM, Broffitt B, Marshall TA, Eichenberger-Gilmore JM, Warren JJ.
Associations between fluorosis of permanent incisors and fluoride intake
from infant formula, other dietary sources and dentifrice during early
childhood. J Am Dent Assoc.141(10):1190-1201.(2010).
8. Zohoori FV, Moynihan PJ, Omid N, Abuhaloob L, Maguire A. Impact of
water fluoride concentration on the fluoride content of infant foods and
drinks requiring preparation with liquids before feeding. Community Dent
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Grynpas. Tooth Quality in Dental Fluorosis : Genetic and Environmental
Factors. Calcified Tissue Int vol 76 :17-25. 2005.
10. Khalid,A. The presence of dental fluorosis in the permanent dentition in
Doha. East Mediterr health J., 10(3). 425-428. (2004).
11. Alvarez JA, Rezende K.M.P.C, Marocho S.M.S, Alves F.B.T, Caliberti P,
Ciamponi.A.L. Dental fluorosis : Exposure, prevention, and management.
Med Oral Patol Oral Cir Bucal Vol 1;14 (2) : E103-7.2009.
12. Levy SM. An update on fluorides and fluorosis. J Can Dent Assoc.
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13. Adair Steven M. Evidence-based Use of Fluoride in Contemporary
Pediatric Dental Practice. Pediatric Dentistry vol 28 :2.(2006).
14. Spencer AJ, Do LG. Changing risk factors for fluorosis among South
Australian children. Community Dent Oral Epidemiol 36: 210-8.(2008).

15. Anthony J Baker. The fluoride Myth debunking the controversy: US :


smashwords edition.(2011).

Pengaruh Gen SHH Terhadap Tumbuh Kembang Gigi


Daftar Pustaka
1.

Gultom, IM.Pertumbuhan dan Perkembangan Gigi Geligi pada Masa


Embrional.Available
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Halim, A. Human Anatomy: Regional And Clinical For Dental


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Avery, J K. Oral Development and Histology. 3rd edition, New York:


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Nancy, A. Ten Cates Oral Histology: Development, Structure, and


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Rao A. Principles and Practice of Pedodontics. 3rd edition, New Delhi:


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Anonymous. Sonic Hadgehog. Available at:http://www.genecards.org/cgibin

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Hu X, Zhang S, Chen G, Lin C, Huang Z, Chen Y, et al. Expression of


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Nunes FD, Valenzuela MdGS, Rodini CO, Massironi AMG, Ko GM.


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at:

PENGARUH GEN CLPTM1 TERHADAP CLEFT PALATE


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PENGARUH GABRB 3 TERHADAP


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PENGARUH

TGF-

TERHADAP

TUMBUH

KEMBANG GIGI
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PENGARUH GEN TBX22 TERHADAP


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29. Chevrier C, Perret C, Bahuau M, et al. Interaction between the ADH1C
polymorphism and maternal alcohol intake in the risk of nonsyndromic oral

clefts: an evaluation of the contribution of child and maternal genotypes. Birth


Defects Res A Clin Mol Teratol 2005;73:11422. 30. Mills JL, Graubard BI.
Is moderate drinking during pregnancy associated with an increased risk for
malformations? Pediatrics 1987;80:30914.
23. Niebyl JR, Blake DA, Rocco LE, et al. Lack of maternal metabolic,
endocrine, and environmental influences in the etiology of cleft lip with or
without cleft palate. Cleft Palate J 1985;22:208.
24. Chiuve SE, Giovannucci EL, Hankinson SE, et al. Alcohol intake and
methylenetetrahydrofolate reductase polymorphism modify the relation of
folate intake to plasma homocysteine. Am J Clin Nutr 2005;82:15562.
25. Tsai J, Floyd RL. Alcohol consumption among women who are pregnant
or who might become pregnantUnited States, 2002. MMWR Morb Mortal
Wkly Rep 2004;53: 117881.

Peranan IgG pada Saliva sebagai


Antimikroorganisme
DAFTAR PUSTAKA
1. Bradley, Patrick J, Orlando Gutinas-Lichius. Salivary Gland Disosders
and Disease: Diagnosis and Management. LEGO S.p.A: Italy. 2011
2. Kidd, E.A.M, Sally Jayston-Bechal. Dasar-Dasar Karies (Penyakit dan
Penanggulangannya). EGC: Jakarta. 2011
3. Dudek, Ronald W. High-yield cell physiology. Lippincott Williams &
Wilkins : United States. 2008
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7. Cawson, R.A, E.W. Odell. Oral Pathologhy and Oral Medicine. 8 th ed.
Elsevier: China. 2008
8. Martinez-Guzman, Marcela Y, Manuel A. de la Rosa-Ramrez, Alma Y.
Arce-Mendoza, Adrian G. Rosas-Taraco. Detection of IgG, IgA and
IgM antibodies against Porphyromonas gingivalis in gingival
crevicular fluid and saliva in patients with chronic periodontitis.
Journal of Infectious Diseases and Immunity Vol. 4(1), pp. 10-15.
2013
9. Abid Aun,Wasan A., Maha Shukri. Detection of specific IgG and IgA
anti Epstein-Barr virus in saliva of chronic periodontitis patients and
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isolated environment. Journal of Oral Science, Vol. 55, No. 2, 139143. 2013
11.Meulenbroek,A.J. Human IgG subclasses: useful diagnostic markers
for immunocompetence. Sanquin: Netherlands. 2008

PENGARUH GEN RUNX2 TERHADAP TUMBUH


KEMBANG GIGI
1.

Sudiono, drg. Janti. Gangguan Tumbuh Kembang Dentokraniofasial. Jakarta: Buku


Kedokteran EGC; 2009.

2.

Kolokhita OG, Papadopoulou AK. Cleidocranial dysplasia: etiology, clinical


characteristic, diagnostic information and treatment approach. Hell Orthod Rev 2008;
11: 21-33.

3.

Lpez BSG, Solalinde CO, Ito TK, Carillo EL, Solalinde EO. Cleidocranialdysplasia:
reportofafamily.J Oral Sci 2004; 46(4): 259-66.

4.

Neville BW, Damm DD, Allen CM, Bouquot JE. Oralandmaxillofacialpathology.2nd


ed. Philadelphia: Saunders, 2003: 537-9.

5.

Schuurs AHB, Moorer WR, Prahl-Andersen B, Thoden van Velsen SK, Visser JB.
Patologigigigeligi:kelainankelainanjaringankerasgigi. Alih bahasa: Sutatmi Suryo
Yogyakarta: Gadjah Mada University Press, 2003: 280-8.

6.

Silva C, DiRienzo S, Serman N. Cleidocranialdysostosis:acasereport.Col Dent Rev


2003; 2: 26.

7.

Golan I, Baumert U, Hrala BP, Mig D. DentomaxillofacialvariabilityofCleidocranial


dysplasia: clinicoradiological presentation and systematic review. Dentomaxillofacial
radiology 2003; 32: 347-354.

8.

Ryoo H-M, Kang H-Y, Lee S-K, Lee K-E, Kim J-W. RUNX2 mutations in cleidocranial
dysplasia patients. Oral Disease 2010; 16; 55-60.

9.

Vojvodic D, Komar D, abarovic D. Prosthetic Rehabilitation of a patient with


Cleidocranialdysostosis:aclinicalreport.Acta Stomatol Croat 2007; 41(3): 273- 8.

10. Hemalatha R, Balasubramaniam MR. Cleidocranialdysplasia:acasereport.J Indian Soc


Pedod Prevent Dent 2008; 26(1): 40-3.
11. Philip Sapp J, Eversole LR, Wysocki GP. Contemporary Oral and Maxillofacial
Pathology.2nd ed. St. Louis: Mosby,2004: 37-8.
12. Tan S, Papandrikos A, Troutman KC. DentalmanagementofCleidocranialdysostosis:a
casereport.Columbia Dental Review 2003; 5: 8-10.

13. Daskalogiannakis J, Piedade L, Lindholm TC, Sndor GKB, Carmichael RP.


Cleidocranialdysplasia:2generationsofmanagement. J Can Dent Assoc 2006; 72(4):
337-42.
14. Counts AL, Rohrer MD, Prasad H, Bolen P. An assessment of root cementum in
Cleidocranialdysplasia.Angle Orthod 2003; 71(4): 293-8.
15. Manjunath K, Kavitha B, Saraswathi TR, Sivapathasundharam B, Manikhandan R.
CementumanalysisinCleidocranialdysostosis.Indian J Dent Res 2008; 19(3): 253-6.

PENGARUH GEN BCL3 TERHADAP CLEFT LIP/PALATE


Referensi
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Linkeviien, V. Kuinskas. Are TGFA, TGFB3, GABRB3, RARA and BCL3
loci associated with nonsyndromic orofacial clefts? A Lithuanian study. 2007.
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D, Passos-Bueno MR. Maternal MTHFR interacts with the offsprings BCL3
genotypes, but not with TGFA, in increasing risk to nonsyndromic cleft lip
with or without cleft palate. 2004.

PENGARUH USIA ORANG TUA TERHADAP TERJADINYA


CELAH BIBIR DAN LANGIT-LANGIT
DAFTAR PUSTAKA
1. Betz Cecily Lynn, Sowden Linda A. 2004. Buku Saku Keperawatan Pediatri, Ed.
5. Jakarta: EGC.
2. Berkowitz, Samuel. 2006. Cleft Lip and Palate Diagnosis and Management 2nd
Edition. New York: Springer.
3. Saraf, Sanjay. 2006. Textbook of Oral Phatology. India: Jaypee
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Elsavier.
5. Vargas Juan E, Caughey Aaron B, Tan Annie, Li Jonathan Zi. 2004. Biochemistry,
Genetics, and Embryology. USA: Blackwell.
6. Lippincott Williams, Walkins. 2007. Pathophysiology. USA
7. Vandress, Marie. 2007. Late Fertility: its Causal Effect on health of the Newborn
and its Implication in Fertility Decision Process.
8. Lebby Kimberly D, Tan Fei, Brown C. Perry. Maternal Factors and Disparities
Associated with Oral Clefts. Ethn Dis. 2010 ; 20(1 Suppl 1): S1-146-9.
9. Martelli, da Cruz, de Barros, Silveira, Swerts, Junior. Maternal and paternal age,
birth order and interpregnancy interval evaluation for cleft lip-palate. Braz
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10. Bille, Skytthe, Vach, Knudsen, Andersen, Murray, Christensen. Parents Age and
the Risk of Oral Clefts. Epidemiology.2005 May ; 16(3): 311-316.

Pengaruh Penggunaan Obat Epilepsi terhadap Celah Palatum


Daftar Pustaka
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Antiepileptic drug use of women with epilepsy and congenital malformations
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5. Prakash, Dr.. Effect of folate suplementation on cleft palate induced by
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Departement of Anatomi Kastruba Medical Collage India. 2007(6): 12-6.
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Pregnancy and teratogenicity of antiepileptic drugs. Departement of
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Pengaruh Mutasi Gen Ameloblastin (AMBN) Terhadap


Amelogenesis Imperfekta
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1. Cawson RA. Essential of Dental Surgery and Pathology, Churchill Livingston,
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Bartlett5, Jan C.-C.Hu. mutational analysis of candidate genes in 24
amelogenesis imperfecta families. European Journal of Oral Sciences. 2006
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10. Torres-Quintana MA, Marcia Gaete, Marcela Hernandez, Marcela Farias dan
Nelson Lobos. Ameloblastin and amelogenin expression in postnatal
developing mouse molars. Journal of Oral Science. 2005

Pengaruh Trauma Pada Gigi Sulung Terhadap


Terjadinya Hipoplasia Enamel Pada Gigi Permanen
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traumatic dentalinjuries in children seen at the FederalUniversity of Rio de
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3. SllosMariana Canano, Sab Thessia Bazhouni Bader, Chagas Mnica de
Souza, Campos Vera. Circular enamel hypoplasia in permanent maxillary
incisorssubsequent to trauma to their predecessors:a 10-year follow-up case
report. 2009; Vol 1 (2): 50-53.
4. Jindal Sahil, Jindal Ritu, Jain Namita. Effects of traumatic injuries of primary
dentition on the development of succesional teeth - A case report. 2011; Vol 2
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5. Tewari Nitesh, Pandey Ramesh Kumar. Multiple abnormalities in permanent
maxillary incisors following trauma to the primary dentition. 2011; Vol 29 (2):
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Morphologic and developmental disturbances of permanent teeth following
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10. Sudiono Janti. Gangguan tumbuh kembang dentokraniofasial. Jakarta. EGC.
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11. Shafer, Hine, Levy. Shafers textbook of oral pathology. 6 th Ed. Noida.
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13. Andreasen J O, Andreasen F M, Andersson L. Textbook and color atlas of
traumatic injuries to the teeth. 4th Ed. Oxford. Blackwell Munksgaard.2007.
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14. L Verma, Singh Harvansh. Developmental disturbance of permanent teeth


following trauma to primary dentition in young athletic children. 2012; Vol 8
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Pengaruh AXIN2 Terhadap Agenesis Gigi


DAFTAR PUSTAKA
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Nieminen P (2004) Mutations in AXIN2 cause familial tooth agenesis and
predispose to colorectal cancer. Am J Hum Genet 74:1043105.
Mostowska Adrianna, Biedziak Barbara, P Pawel, Jagodzinski (2006) Journal
Axis inhibition protein 2 (AXIN2 ) polymorphisms may be a risk factor for
selective tooth agenesis. J Hum Genet 51:262266.
National Institutes of Health Public Access Author Manuscript (2009) Journal
Axis Inhibition Protein 2 (AXIN2) Polymorphisms and Tooth Agenesis. Arch
Oral Biol. 2009 January ; 54(1): 4549.
Blaszezak, Maria Mielnik et al. 2012. Reviews Tooth Agenesis-a Review of
Literature and Own Case Studies. Dent. Med. Probl. 2012, 49, 2, 293-298 ISSN
1644-387X.
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tests for associating haplotypes with general phenotype data: application to
asthma genetics. Genet Epidemiol 2004;26:61 9. [PubMed: 14691957].
Sasaki I, Ito Y, Xu X, Han J, Bringas P, Maeda T, Slavkin HC, Grosschedl R,
Chai Y (2005) LEF1 is a critical epithelial survival factor during tooth
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Peranan CCL28 pada Saliva Sebagai Antimikroorganisme


Daftar Pustaka
1. Chandra S, Chandra S, Chandra M, Chandra N. Textbook of dental and oral
histology with embryology and multiple choice questions. 2004.New delhi.
Isbn 81-8061-238-4. Jaypee brother medical publishers(p) ltd.p219-22.
2. de Almeida PDV, Grgio AMT, Machado MN, de Lima AAS, Azevedo LR.
Saliva Composition and Functions: A Comprehensive Review. J Contemp
Dent Pract 2008 March; (9)3:072-080.
3. Hieshima K, Ohtani H, Shibano M, Izawa D, Nakayama T, Kawasaki Y, Shiba
F, Shiota M, Katou F, Saito T, Yoshie O. CCL28 has dual roles in mucosal
Immunity as a Chemokine with Broad-Spectrum Antimicrobial Activity.2003.
J. Immunol. 170:1452-1461.
4. Arnold W,Ganzer U, ed : Anniko M, Sprekelsen M.B, Bonkowsky V, Bradley
P, Iurato S. Otorhinolaryngology,Head & Neck Surgery. 2010. Germane:
Springer.
5. Corwin E.J. Buku saku patofisiologi,Ed. 3. 2009. Jakarta: E.G.C.
6. Mitchell, Kumar, Abbas, Fausto. Buku saku dasar patologis penyakit robbins
& contran, ed.7. 2006. Jakarta: E.G.C.
7. Egesten A, Schmidt A, Herwald I.Trends in innate immunity. 2008.
Switzerland : Karger.
8. Pan J, Kunkel E.J, Gosslar U, Lazarus N, Langdon P, Broadwell K, Vierra
M.A, Genovese M.C, Butcher E.C, and Soler D. 2000. A novel chemokine
ligand for CCR10 and CCR3 expressed by epithelial cells in mucosal tissues.
J. Immunol. 165:2943.
9. Eksteen B, Miles A, Curbishley S.M, Tselepis C, Grant A.J, Walker L.S.K and
Adams D.H. Epithelial Imflammation Is Associated with CCL28 Production
and the Recruitment of Regulatory T Cells Expressing CCR10. 2006.
J.Immunol. 177:593-603.
10. Castelletti E, Lo Caputo S, Kuhn L, Borelli M, Gajardo J, et al (2007) The
Mucosae-Associated
Epithelial
Chemokine
(MEC/CCL28)
ModulatesImmunity in HIV Infection. PLoS ONE 2(10): e969.
11. Liu B, Wilson E. The Antimicrobial activity of CCL28 is Dependent on Cterminal posotively-charged amino acids. 2010. J.Immunol.40: 186-196.

PENGARUH MUTASI GEN DENTINOSIALOPHOSPOPROTEIN (DSPP)


TERHADAP DENTINOGENESIS IMPERFECTA TIPE II
DAFTAR PUSTAKA

1. MacDougall, M., J. Dong, A.C. Acevedo. Molecular basis of human dentin


diseases. Am J Med Genet; 2006 Part A 140A: 25362546
2. Saraf, Sanjay. 2006. Textbook of Oral Pathology. New Delhi: Jaypee
Brothers Medical Publisher.page 51
3. Rajendran R, Sivapathasundharam B, Shafer WG. 2009. Shafers Textbook
of Oral Pathology (
ed). New Delhi: Elsevier.page 54-55
4. Schuurs, Albert. 2013. Pathology of the hard dental tissues. United Kingdom:
Willey-Blackwell.page: 3
5. Yasuo Yamakoshi, Dentinogenesis and dentin sialophosphoprotein (DSPP). J
Oral Biosci; 2009 .51(3): 134
6. A.C. Acevedo, L.J.S. Santos, L.M. Paula,dkk. Phenotype characterization and
DSPP mutational analysis of three Brazilian dentinogenesis imperfecta tipe II
families. Cells Tisues Organs; 2009. 189-230-236
7. Haihuai Bai, Hasi Agula, Qizhu Wu, dkk. A novel DSPP mutauion causes
dentinogenesis imperfecta type II in large Mongolian Family. BMC Medical
Genetics; 2010. 11:23
8. Rosen, Chifford J. 2008. Primer on The Metabolic Bone Disease and
Disorders of Mineral Metabolism(
ed), Amerika: American Society for
Bone and Mineral Research: page:35
9. Greenberg, Glick and Ship. 2008. Burkets Oral Medicine (
ed), India: BC
Decker. Inc.page: 553
10. Jung-Wook Kim, Jan C-C Hu, Jae_II Lee, dkk. Mutational hot spot in the
DSPP gene causing dentinogensis imperfecta type II. Hum Genet; 2005.
116:186-191

Pengaruh EDAR terhadap Displasia Ektodermal


DAFTAR PUSTAKA
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Harshanur IP. Anatomi Gigi. Jakarta: EGC. 1991. 223-7


Harty FJ, Ogston R. Kamus Kedokteran Gigi. Jakarta: EGC. 1995. 101
Behrman RE, Kliegman RM, Arvin AM. Ilmu Kesehatan Anak Nelson Vol 3. Ed
15. Jakarta: EGC. 2000. 2234
4. ScullyC, Cawson RA. Atlas Bantu Kedokteran Gigi: Penyakit Mulut. Jakarta:
Hipokrates. 1991. 147
5. Eveline PN, Hadinegoro SR, Boediardja SA. Displasia Ektodermal Hipohidrotik.
FKUI-RSCM: Jakarta.2003. 133
6. Laurikkala
J.
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Syndromes.Developmental Biology Programme, Institute of Biotechnology,And
Department of Pedodontics and Orthodontics, Institute of Dentistry,University of
Helsinki: Finland.2004. 20
7. Shimomura Y, Sato N, Miyashita A, Hashimoto T, Ito M, Kuwanow R. Rare Case
of Hypohidrotic Ectodermal Dysplasia Caused by Compound Heterozygous
mutation in The EDAR Gene. The Society for Investigative Dermatology: Japan.
2004. 649-55
8. Mutation Screening of the Ectodysplasin-A Receptor Gene EDAR in
Hypohidrotic Ectodermal dysplasia. Hout AH, Oudesluijs GG, Venema A,
Verheij B, Mol BGJ, Rump P, et all. European Journal of Human Genetic:
Netherland. 2008.673-9
9. Epstein CJ, Erickson RP, Boris AW. Inborn Errors of Clinical Disorder of
Morphogenesis. Oxford University Press: New York. 2004. 363
10. Lind LK , Blicks CS, Lejon K, Egenolf MS.EDAR Mutation in Autosomal
Dominant Hypohidrotic Ectodermal Dysplasia in Two Swedish Families. Biomed
Central: Sweden 2006.1-8
11. Marks DB, Marks AD, Smith CM. Biokimia Kedokteran Dasar: Sebuah
Pendekatan Klinis. Jakarta: EGC. 2000. 198-9

Pengarun Gen GJA1 Terhadap Culodentodigital Dysplasia


Ann M. Flenniken, dkk. 2005. A GJA1 Missense Mutation in A Mouse Model of
Oculodentodigital Dysplasia. Canada : The Company of Biologists.
Junko Shibayama, dkk. 2005. Functional Characterization of Connexin 43 Mutations
Found in Patients with Oculodentodigital Dysplasia. Canada : American Heart
Association.
A. Fenwick. 2008. Novel Mutations in GJA1 Cause Oculodentodigital Syndrom.
Interational and American Associations for Dental Research.
Qing Shao, dkk. 2012. Structure ang Fungsional Studies of N-termal Cx43 Mutants
Linked to Oculodentodigital Dysplasia. Canada : Department of Anatomi and Cell
Biology
Lecanda, F., Warlow, P.M., S., Furlan, F., Steinberg, T.H. and Civitelli, R. (2000).
Connexin43 deviciency causes delayyed ossification, Craniofacial abnormalities, and
osteoblast dysfunction. J. Cell Biol. 151, 931-943
William A. Paznekas. 2003. Connexin 43 (GJA1) Mutations Cause the Pleiotropic
Phenotype of Oculodentodigital Dysplasia. Department of Pediatrics, University of
Washington, Seattle
Richardson RJ, Joss S, Tomkin S, Ahmed M, Sheridan E, Dixon MJ (2006). "A
nonsense mutation in the first transmembrane domain of connexin 43 underlies
autosomal recessive oculodentodigital syndrome". J. Med. Genet. 43 (7)
Jones KL, Smith DW, Harvey MA, Hall BD, Quan L (1975). "Older paternal age
and fresh gene mutation: data on additional disorders". J. Pediatr. 86 (1)

PENGARUH FGF3 TERHADAP MIKRODONSIA


DAFTAR PUSTAKA

1. Morton CC, Nance WE. 2006. Newborn hearing screening-a silent


revolution. N Eng J Med 354:2151-2164
2. Petit C. From deafness genes to hearing mechanisms: harmony and
counterpoint. Trends Mol Med. 2006;12:5764.
3. Tekin, Mustafa. Dkk. 2007. Homozygous Mutations in Fibroblast
Growth Factor 3 Are Associated with a New Form of Syndromic
Defness Characterized by Inner Ear Agenesis, Microtia, and
Microdontia. The American Journal of Human Genetics. Vol 80
4. Alsmadi, Osama. Dkk. 2009. Syndromic Congenital Sensorineural
Deafness, Microtia and Microdontia Resulting from a Novel
Homoallelic Mutation in Fibroblast Growth Factor (FGF3). European
Journal of Human Genetics.
5. Tekin, Mustafa. Dkk. 2008. Homozygous FGF3 Mutations Result in
Congenital Deafness with Inner Ear Agenesis, Microtia, and
Microdontia. Clinical Genetics.
6. Langlais, Robert. Miller, Craig. 1998. Kelainan Rongga Mulut yang
Lazim. Jakarta : Hipokrates
7. Soediono, Janti. Dkk. 2009. Gangguan Tumbuh Kembang
Dentokraniofasial. Jakarta : EGC

PENGARUH OSTERIX TERHADAP TUMBUH KEMBANG GIGI


Daftar Pustaka
1. Chen S, Gluhak-Heinrich J, Wang Y.H, Wu Y.M, Chuang H.H, Chen L, Yuan
G.H, Dong J, Gay I, and MacDougall. Runx2, Osx, and Dspp in Tooth
Development. J Dent Res 88(10):904-909. 2009.
2. Azumi Hirata, Toshio Sugahara, and Hiroaki Nakamura. Localization of Runx2,
Osterix, and Osteopontin in Tooth Root Formulation in Rat Molars. Journal of
Histochemistry & Cytochemistry. Volume 57(4): 397-403. 2009.
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Thesleff I, et al. Phenotypic changes in dentition of Runx2 homozygote-null
mutant mice. J Histochem Cytochem 52:131139. 2004.
4. Zhengguo Cao, Hua Zhang, Xin Zhou, Xianglong Han, Tian Gao, Yin xiao, at al.
Genetic Evidence for the Vital Function of Osterix in Cementogenesis. Journal
of Bone and Mineral Research, Vol. 27(5):1080-1092. 2012.
5. Bosshardt DD. Are cementoblasts a subpopulation of osteoblasts or a unique
phenotype? J Dent Res. 84(5):390406. 2005.
6. Zhou X, Zhang Z, Feng JQ, Dusevich VM, Sinha K, Zhang H, Darnay BG, de
rombrugghe B. Multiple functions of Osterix are required for bone growth and
homeostasis in postnatal mice. Proc Natl Acad Sci U S A.;107(29):1291924.
2010.
7. Joerg Renn, Christoph Winkler. Osterix-mCherry transgenic medaka for in vivo
imaging of bone formation. Vol 238(1): 241248. Januari 2009.
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(Osx) expression in human mesenchymal stem cells via the MAPK and protein
kinase D signaling pathways. J Biol Chem 280:31353-31359. 2005.
9. Ulsamer A, Ortuo MJ, Ruiz S, Susperregui AR, Osses N, Rosa JL, et al. BMP-2
induces

Osterix

expression

through

up-regulation

of

Dlx5

and

its

phosphorylation by p38. J Biol Chem 283:3816-3826. 2008.


10. Zou SJ, DSouza RN, Ahlberg T, Bronckers AL. Tooth eruption and cementum
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2003.

Pengaruh Mutasi Gen WDR72 terhadap Amelogenesis Imperfecta


DAFTAR PUSTAKA
1. Cells Tissue Organ 2011;194:60-66, December 29, 2010 : Hypomaturation
Amelogenesis Imperfecta due to WDR72Mutations: A Novel Mutation and
Ultrastructural Analyses of Deciduous Teeth
2. Cells Tissue Organ 2007;186:78-85, 2007 : Enamel Formation and
Amelogenesis Imperfecta
3. Cells Tissues Organs 2011;194:279283, May 19 2011 : Amelogenesis
Imperfecta: Genotype-Phenotype Studies in 71 Families
4. Molecular Syndromology 2012;3:223-229, Oktober 19, 2012 : A Novel
Homozygous WDR72 Mutation in Two Siblings with Amelogenesis
Imperfecta and Mild Short Stature
5. Biochem Genet (2011) 49:104121, 2010 : Dening a New Candidate Gene
for Amelogenesis Imperfecta: From Molecular Genetics to Biochemistry
6. The American Journal of Human Genetics, 699-705, November 13, 2009 :
Mutations in the Beta Propeller WDR72 cause Autosomal-Recessive
Hypomaturation
7. Journal dental research, 89, Desember 2010 : Novel WDR72 Mutation and
Cytoplasmic Localization

PENGARUH GEN DMP 1 TERHADAP


TUMBUH KEMBANG GIGI
. Arvin, Behrman. 2000. Ilmu Kesehatan Anak, Vol 2. Jakarta: EGC
2. Hashanur, Itjingningsih Wangidjaja. 1995. Anatomi Gigi. Jakarta: EGC
3. Fawcett, Don W. 1994. Buku Ajar Histologi. Jakarta: EGC
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5. George A, Gui J, Jenkins NA, Gillbert DJ, Copeland NG, Veis A. 2004. In Situ
Lokalization and Chromosomal Mapping of the AG1 (DMP1) Gene. Journal of
Histochemistry & Cytochemistry.
6. Sumawinata, Narlan.1995. Senarai Istilah Kedokteran Gigi. Jakarta: EGC
7. Martin DM, Hallsworth AS, Buckley T. 2004. A Method for The Study of Internal
Spaces in Hard Tissue Matrices by SEM, with Special Reference to Dentine. J microsc.

8. Feng JQ, Huang H, LU Y, Ye L, Xie Y, Tsutsui TW, Kunieda T, Castranio T,


Scott G, Bonewald LB, Mishina Y. 2003. The Dentin Matrix Protein ! is
Specifically Expressed in Mineralized, but Not Soft, Tissues During
Development.J Dent Res

HUBUNGAN ANTARA SINDROM PIERRE ROBIN


TERHADAP TERJADINYA CELAH PALATUM
DAFTAR PUSTAKA
1. Goldenberg David, Goldstein Bradley. Handbook of Otolaryngology: Head
and Neck Surgery. New York: Thieme, 2010: contents.
2. Betz Lynn Cecily, Sowden A. Linda. Buku Saku Keperawatan edisi 5.
Jakarta: EGC, 2004: 95.
3. Berg van der HJS, Plessis du SM, Butow K-W, Honey EM. Associated
syndromes and other genetic variations at a South African cleft lip and palate
clinic Research Article. South Africa, 2009: 53-58.
4. Scully Crispian. Medical Problems in Dentistry 6th edition. United States od
America: Churcill Livingstone Elsevier, 2010:contents.
5. Jakobsen LP, Ullmann, R. Pierre Robin sequence may be caused by
dysregulation of SOX9 and KCNJ2. J Med Genet 2007; 44:381-6.
6. Abubaker AO, Benson KJ. Oral and Maxillofacial Surgery Secrets. 2nd ed.
California: Elsevier, 2007 : 354.
7. Evans AK, Rahbar R, Rogers GF, Mulliken JB, Volk MS. Robin sequence: a
retrospective review of 115 patients. Int J Pediatric Otorhinolaryngology
2005; 70 : 974.
8. Benumof Jonathan, Hagberg A. Carin. Benumofs Airway Management:
Principles and Practice. United States: Elsevier Health Science, 2007: 800-01.
9. Savion I, Huband ML. A feeding obturator for a preterm baby with pierre
robin sequence. J Prosthet Dent 2005; 93(2) : 197 - 200.
10. Rodriguez D Eduardo, Losee E Joseph, Neligan C. Peter. Plastic Surgery:
Volume 3: Craniofacial, Head and Neck Surgery Pediatric Plastic Surgery.
China: Elsevier Health Science, 2012: 810.
11. Valdani FK. The craniofacial growth pattern in pierre robin sequence from
childhood to adulthood. Karolinska Institutet 2004 : 4 - 8.
12. Vinson Partin Betsy. Language Disorders Across the LifeSpan, 3rd ed. United
States of America: Delmar Cengage Learning, 2011: 58.
13. Jamshidi N, Macciocca I, Dargaville PA, Thomas P, Kilpatrick N, Gardner
MRJ et al Isolated Robin syndrome associated with a balanced t (2; 17)
Chromosomal translocation. J Med Genet 2004; 41.
14. R Selvi, A Mukunda Priyanka. Role of SOX9 in the Etiology of Pierre-Robin
Syndrome. Iran J Basic Med Sci 2013; 16:700-04.
15. Online- Genetics home reference- A service of the U.S. National Library of
Medicine Reviewed May 2009.

PENGARUH GEN ORAL FACIAL DIGITAL TIPE 1 (OFD1) TERHADAP CELAH


BIBIR
Webby GL,Cassel CH. The impact of orofacial cleft on quality of life and healthcare
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presenting as adult polycystic kidney disease. J Med Genet

PERAN GEN SP6 TEHADAP PROSES AMELOGENESIS


DAFTAR PUSTAKA
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139146, 2006.
8. I. Ruspita, K. Miyoshi, T. Muto, K. Abe, T. Horiguchi, and T. Noma, Sp6 down
regulation of follistatin gene expression in ameloblast, Journal of Medical
Investigation, vol. 55, no. 1-2, pp. 8798, 2008.
9. Utami Trianna W. Et al., Possible Linkage of SP6 Transcriptional Activity with
Amelogenesis

by

Protein

Stabilization,

Journal

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Biomedicine

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Biotechnology, Vol. 2011, Article ID 320987, 10 pages doi: 10. 1155/2011/320987

Pengaruh Mutasi Gen PHF8 terhadap Celah


Orofasial
DAFTAR PUSTAKA

1. Cecily L. Betz dan Linda A. Sowden. Buku Saku Keperawatan


Pediatri. Jakarta: EGC; 2004.
2. Christoph Loenarz,1,5 Wei Ge,1,5 Mathew L. Coleman,2,6 Nathan R.
Rose et.al. PHF8, a gene associated with cleft lip/palate and mental
retardation, encodes for an N dimethyl lysine demethylase.
Oxford University Press, Vol. 120 (5). 2009.
3. H. Hilger Roper dan Ben C. J. Hamel. X-linked mental retardation.
Nature Publishing Group, Vol. 6. 2005.
4. Laumonnier, F., Holbert, S., Ronce, N., Faravelli, F., Lenzner, S.,
Schwartz, C.E., Lespinasse, J., Van Esch, H., Lacombe, D., Goizet, C.
et al. Mutations in PHF8 are associated with X linked mental
retardation and cleft lip/cleft palate. J. Med. Genet., Vol. 42, 780786. 2005.
5. Qiao, Y., Liu, X., Harvard, C., Hildebrand, M.J., Rajcan-Separovic, E.,
Holden, J.J.A. and Lewis, M.E.S. Autism-associated familial
microdeletion of Xp11.22. Clin. Genet., Vol. 74, 134-144. 2008.
6. Loenarz, C. and Schofield, C.J. Expanding chemical biology of 2oxoglutarate oxygenases. Nat. Chem. Biol., Vol. 4, 152-156. 2008.
7. FE Abidia, MG Mianob, JC Murrayc, and CE Schwartza. A novel
mutation in the PHF8 gene is associated with X-linked mental
retardation with cleft lip/cleft palate. National Of Health Institutes,
Vol. 72(1): 1922. 2007.

Pengaruh Bentuk Kraniofasial Parental yang Asimetris


Terhadap Terjadinya Celah Bibir/Palatum
DAFTAR PUSTAKA
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2.
3.
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5.
6.
7.
8.

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parents of children with a cleft lip, with or without a cleft palate, or an isolated
cleft palate. European Journal of Orthodontics 32: 17785
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of the evolution of developmental mechanisms. Gene 287: 310
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Bilateral asymmetry in Chinese families with cleft lip with or without cleft
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in cleft lip with or without cleft palate as determined by cephalometry: a metaanalysis. Orthodontic and craniofacial research 9: 18-30

PENGARUH OBAT ANTIEPILEPSI


TERHADAP CELAH BIBIR
DAFTAR PUSTAKA
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108 : 53-57

PENGARUH MUTASI GEN P63 TERHADAP


CELAH PALATUM
Daftar pustaka

1. Yuzuriha S, Mulliken JB. Minor-form, microform, and mini-microform cleft


lip: anatomical features, operative techniques, and revisions. Plast. Reconstr.
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2. Tosun Z, Honuter M, Sentrk S, Savaci N. Reconstruction of microform
cleft lip. Scand J Plast Reconstr Surg Hand Surg 37 (4): 2325. 2003.
3. Dudas M, Li WY, Kim J, Yang A, Kaartinen V . Palatal fusion where do
the midline cells go? A review on cleft palate, a major human birth
defect. Acta Histochem. 109 (1): 114. 2007.
4. Cox, T.C. Taking it to the max: the genetic and developmental mechanisms
coordinating midfacial morphogenesis and dysmorphology. Clin. Genet. 65,
163176. 2004.
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Bertola DR, Kim CA, Albano LM, Scheffer H, Meijer R, van BH.
Molecular evidence that AEC syndrome and Rapp-Hodgkin syndromare
variable expression of a single genetic disorder. Clin Genet 66:7980.

6. Candi E, Rufini A, Terrinoni A, Dinsdale D, Ranalli M, Paradisi A, De L V,


Spagnoli LG, Catani MV, Ramadan S, Knight RA, Melino G. Differential
roles of p63 isoforms in epidermal development: Selective genetic
complementation in p63 null mice. Cell Death Differ 13:10371047.2006.
7. Rinne T, Hamel B, van Bokhoven H, Brunner HG. Pattern of p63 mutations
and their phenotypes-update. Am J Med Genet Part A 140A:13961406. 2006.
8. Dianzani I, Garelli E, Gustavsson P, Carando A, Gustafsson B, Dahl N,
Anneren G. Rapp-Hodgkin and AEC syndromes due to a new frameshift
mutation in the TP63 gene. J Med Genet 40:e133. 2003.
9. Duijf PH, Vanmolkot KR, Propping P, Friedl W, Krieger E, McKeon F,Dotsch
V, Brunner HG, van Bokhoven H. 2002. Gain-of-function mutation in ADULT
syndrome reveals the presence of a second transactivation domain in p63.
Hum Mol Genet 11:799804.

10. Kannu P, Savarirayan R, Ozoemena L, White SM, McGrath JA. RappHodgkin ectodermal dysplasia syndrome: The clinical and molecular overlap
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factors as regulators of host defense. Annu Rev Immunol. 2001;19:623655.

Pengaruh Bone Morphogenetic Protein 7 ( BMP 7) terhadap cleft palate


DAFTAR PUSTAKA

1. Lynn CB, SowdenLA .BukuSakuKeperawatanPediatri . Ed.5. Jakarta:


PenerbitBukuKedokteran EGC; 2004. H. 95
2. SudionoJanti,
MDSc.
GangguanTumbuhKembangDentokraniofasial.
Jakarta:PenerbitBukuKedokteran EGC; 2007.H.5-6
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ofvertebrate development. Genes & development 10: 15801594.
4. Ferguson MW (1988) Palate development. Development 103 Suppl: 4160.
5. Zhao GQ (2003) Consequences of knocking out BMP signaling in the mouse.
Genesis 35: 4356.
6. Vieira AR (2008) Unraveling human cleft lip and palate research. J Dent Res
87:119125.
7. Zouvelou V, Passa O, Segklia K, TsalavosS, Valenzuela DM, et al. (2009)
Generation and functional characterization of mice with a conditional BMP7
allele. Int J DevBiol 53: 597603.
8. Wang YH, Rutherford B, Upholt WB, Mina M (1999) Effects of BMP-7
onmouse tooth mesenchyme and chick mandibular mesenchyme. DevDyn
216:320335

Pengaruh Gen IRF6 Terhadap Terjadinya Cleft Lip (celah bibir)


Referensi
1.

Arulkumaran, Regan Lesley. Oxford Desk Reference. India: Glyph

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International: 2011; 116


Kumar KS, Sukumar MR, Saravanan B, Ramanathan A, Boominathan M.
Interferon IRF6 Gene Variants and the Risk of Isolated Cleft lip or Palate in
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3.

Dentistry 2012;Vol 2. 487-490


Srichomthong C, Siriwan P, Shotelersuk V. Significant association between
IRF6 820GRA and nonsyndromic cleft lip with or without cleft palate in the

4.

Thai population. J Med Genet 2005; 42:e46


Park Wan Ji, Mcintosh Iain, Jacqueline B. Hetmanski, et al. Association
between IRF6 and nonsyndromic cleft lip with or without cleft palate in four

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populations. Genetic In medicine 2007; Vol 9:4: 219-227.


Whu-Chou Yah-Huei, Lo Lun-jou, Chen P Kuo-Ting, Chen Yu-ray. A
combined targeted mutation analysis of IRF6 gene would be useful in the first
screening of oral facial cleft. Medical Genetic: Biomed Central 2013; 1-5.
M Ghassibe et al. IRF6 gene variants and nonsyndromic CLP. European
Journal of Human Genetics 2005; 13, 12391242
Weitang et al. Association Analysis Between the IRF6 G820A Polymorphism
and Nonsyndromic Cleft Lip and/or Cleft Palate in a Chinese Population.
Cleft PalateCraniofacial Journal 2009; Vol. 46: 89-92

Pengaruh Mutasi NEMO terhadap Ectodermal


Dysplasia
DAFTAR PUSTAKA

1. Anthony J. Mancini, Leslie P. Lawley, Gulbu Uzel. X-linked Ectodermal Dysplasia


with Immunodeficiency Caused by NEMO Mutation, vol.144 (3) : 342,343,346.
2008

2. Michael Karin. NF-kB in Health and Disease. Springer : 2, 86-87 . 2011


3. Marjorie Hubeau et al. New Mechanism of X-lingked Anhidrotic Ectodermal
Dysplasia with Immunodeficiency: Impairment of Ubiquitin Binding Despite Normal
Folding of NEMO Protein. Blood Journal, vol.118 (4) : 926-928,933. 2011

4. Emilie Vinola et al. A Point Mutation in NEMO Associated with Anhidrotic


Ectodermal Dysplasia with Immunodeficiency Pathology Results in Destabilization
of the Oligomer and Reduces Lipopolysaccharide- and Tumor Necrosis Factormediated NF-kB Activation. The Journal of Biological Chemistry, vol.281 (10): 6334.
2006

5. Ronald Hoffman, Edward J. Benz Jr, Leslie E. Silberstein, Helen Heslop,


Jeffrey Weitz, John Anastasi. Hematology: Basic Principles and Practice : 680.
2012
6. Harbola Priyangka, Mishra Pragya. Disorders Related to Nuclear Factor Kappa B
Essential Modulator (NEMO) Immunodeficiency in Children: A Review.
International Research Journal of Pharmacy, vol.3 (5): 21-22 . 2012

7. Michael D. Keller et al.Hypohidrotic ectodermal dysplasia and immunodeficiency


with coincident NEMO and EDA mutations. Original Research Article, vol.2 : 1-4 .
2011

PENGARUH MUTASI GEN FAM20A TERHADAP


AMELOGENESIS IMPERFEKTA
Referensi
1. OSullivan J, Bitu CC, Daly SB, Urquhart JE, Barron MJ, et al. (2011) WholeExome Sequencing Identifies FAM20A Mutations as a Cause of Amelogenesis
Imperfecta and Gingival Hyperplasia Syndrome. Am J Hum Genet 88: 616620
2. Patal Anar , A.R. Chaundary, Bhavin Dudhia , Naresh Soni , Abhishek barot (2011)
Amelogenesis Imperfecta. The Journal of Ahmedabad Dental College and Hospital
3. Smith, C.E. (1998). Cellular and chemical events during enamel maturation. Crit.
Rev. Oral Biol. Med. 9, 128161.
4. Nalbant, D., Youn, H., Nalbant, S.I., Sharma, S., Cobos, E., Beale, E.G., Du, Y.,
and Williams, S.C. (2005). FAM20: An evolutionarily conserved family of secreted
proteins expressed in hematopoietic cells. BMC Genomics 6, 11.
5. Mayur Chaudhary, Shweta Dixit, Asha Singh, Sanket Kunte. Amelogenesis
Imperfecta : Report of a case and review of literature JOMFP 2009;13(2):70 - 77.
6. Narendranath Reddy. Y, Siva Prasad Reddy. E. Amelogenesis Imperfecta : A case
report. Annals and essences of dentistry 2010;2(1):19 21.
7. Emin Murat CANGER, Peruze CELENK, Murat YENISEY, Selcen Zeynep
ODYAKMAZ. Amelogenesis Imperfecta, Hypoplastic Type associated with some
dental abnormalities : A Case Report. Braz Dent J 2010;21(2):170-174.
8. Rajendran R. Chptr: 1. Developmental disturbances of oral and paraoral structures.
In: Rajendran R, Sivapathasundharam B, editors. Shafers Textbook of Oral
Pathology. 6th ed. Pub: Elsevier; 2009. p. 48.
9. Peter JM Crawford, Michael Aldred, Agnes Bloch-Zupan. Amelogenesis
Imperfecta. Orphanet Journal of rare diseases 2007;17(2):1-11
10. Amelogenesis Imperfecta and Other Biomineralization Defects in Fam20a and
Fam20c Null Mice
11. Martelli-Junior H, Bonan PR, Dos Santos LA, Santos SM, Cavalcanti MG, et al.
(2008) Case reports of a new syndrome associating gingival fibromatosis and dental
abnormalities in a consanguineous family. J Periodontol 79: 12871296.

12. Hao, J., Narayanan, K., Muni, T., Ramachandran, A., and George, A. (2007).
Dentin matrix protein 4, a novel secretory calcium-binding protein that modulates
odontoblast differentiation. J. Biol. Chem. 282, 1535715365.
13. Cho SH, Seymen F, Lee KE, Lee SK, Kweon YS, et al. (2012) Novel FAM20A
mutations in hypoplastic amelogenesis imperfecta. Hum Mutat 33: 9194.
14. Vogel P, Hansen GM, Read RW, Vance RB, Thiel M, et al. (2012) Amelogenesis
Imperfecta and Other Biomineralization Defects in Fam20a and Fam20c Null Mice.
Vet Pathol 49: 9981017.
15. Chan HC, Estrella NM, Milkovich RN, Kim JW, Simmer JP, et al. (2011) Target
gene analyses of 39 amelogenesis imperfecta kindreds. Eur J Oral Sci
119: 311323.

PENGARUH RUNX2 TERHADAP


PERKEMBANGAN KARTILAGO
MANDIBULA
Kimura A (2003) Matrix protein production and gene expression in bone forming cells on
mandible bone formation of mouse. J Tokyo Dent Coll Soc 103: 335-345 (in Japanese with
English summary)

Tang GH and Rabie ABM (2005) Runx2 Regulates Endochondral Ossification in Condyle
during Mandibular Advancement. J Dent Res 84(2): 166-171

Kawakami T, Shimizu M and Shimizu T (2005) Immnohistochemical Characteristics of


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