293 related articles for article (PubMed ID: 24305999)
1. ITGB6 loss-of-function mutations cause autosomal recessive amelogenesis imperfecta.
Wang SK; Choi M; Richardson AS; Reid BM; Lin BP; Wang SJ; Kim JW; Simmer JP; Hu JC
Hum Mol Genet; 2014 Apr; 23(8):2157-63. PubMed ID: 24305999
[TBL] [Abstract][Full Text] [Related]
2. A missense mutation in ITGB6 causes pitted hypomineralized amelogenesis imperfecta.
Poulter JA; Brookes SJ; Shore RC; Smith CE; Abi Farraj L; Kirkham J; Inglehearn CF; Mighell AJ
Hum Mol Genet; 2014 Apr; 23(8):2189-97. PubMed ID: 24319098
[TBL] [Abstract][Full Text] [Related]
3. Critical role for αvβ6 integrin in enamel biomineralization.
Mohazab L; Koivisto L; Jiang G; Kytömäki L; Haapasalo M; Owen GR; Wiebe C; Xie Y; Heikinheimo K; Yoshida T; Smith CE; Heino J; Häkkinen L; McKee MD; Larjava H
J Cell Sci; 2013 Feb; 126(Pt 3):732-44. PubMed ID: 23264742
[TBL] [Abstract][Full Text] [Related]
4. Novel ITGB6 mutation in autosomal recessive amelogenesis imperfecta.
Seymen F; Lee KE; Koruyucu M; Gencay K; Bayram M; Tuna EB; Lee ZH; Kim JW
Oral Dis; 2015 May; 21(4):456-61. PubMed ID: 25431241
[TBL] [Abstract][Full Text] [Related]
5. Mutations in the beta propeller WDR72 cause autosomal-recessive hypomaturation amelogenesis imperfecta.
El-Sayed W; Parry DA; Shore RC; Ahmed M; Jafri H; Rashid Y; Al-Bahlani S; Al Harasi S; Kirkham J; Inglehearn CF; Mighell AJ
Am J Hum Genet; 2009 Nov; 85(5):699-705. PubMed ID: 19853237
[TBL] [Abstract][Full Text] [Related]
6. Recessive Mutations in ACPT, Encoding Testicular Acid Phosphatase, Cause Hypoplastic Amelogenesis Imperfecta.
Seymen F; Kim YJ; Lee YJ; Kang J; Kim TH; Choi H; Koruyucu M; Kasimoglu Y; Tuna EB; Gencay K; Shin TJ; Hyun HK; Kim YJ; Lee SH; Lee ZH; Zhang H; Hu JC; Simmer JP; Cho ES; Kim JW
Am J Hum Genet; 2016 Nov; 99(5):1199-1205. PubMed ID: 27843125
[TBL] [Abstract][Full Text] [Related]
7. AMBN mutations causing hypoplastic amelogenesis imperfecta and Ambn knockout-NLS-lacZ knockin mice exhibiting failed amelogenesis and Ambn tissue-specificity.
Liang T; Hu Y; Smith CE; Richardson AS; Zhang H; Yang J; Lin B; Wang SK; Kim JW; Chun YH; Simmer JP; Hu JC
Mol Genet Genomic Med; 2019 Sep; 7(9):e929. PubMed ID: 31402633
[TBL] [Abstract][Full Text] [Related]
8. FAM20A mutations associated with enamel renal syndrome.
Wang SK; Reid BM; Dugan SL; Roggenbuck JA; Read L; Aref P; Taheri AP; Yeganeh MZ; Simmer JP; Hu JC
J Dent Res; 2014 Jan; 93(1):42-8. PubMed ID: 24196488
[TBL] [Abstract][Full Text] [Related]
9. The Enamel Phenotype in Homozygous Fam83h Truncation Mice.
Wang SK; Hu Y; Smith CE; Yang J; Zeng C; Kim JW; Hu JC; Simmer JP
Mol Genet Genomic Med; 2019 Jun; 7(6):e724. PubMed ID: 31060110
[TBL] [Abstract][Full Text] [Related]
10. Claudin-16 Deficiency Impairs Tight Junction Function in Ameloblasts, Leading to Abnormal Enamel Formation.
Bardet C; Courson F; Wu Y; Khaddam M; Salmon B; Ribes S; Thumfart J; Yamaguti PM; Rochefort GY; Figueres ML; Breiderhoff T; Garcia-Castaño A; Vallée B; Le Denmat D; Baroukh B; Guilbert T; Schmitt A; Massé JM; Bazin D; Lorenz G; Morawietz M; Hou J; Carvalho-Lobato P; Manzanares MC; Fricain JC; Talmud D; Demontis R; Neves F; Zenaty D; Berdal A; Kiesow A; Petzold M; Menashi S; Linglart A; Acevedo AC; Vargas-Poussou R; Müller D; Houillier P; Chaussain C
J Bone Miner Res; 2016 Mar; 31(3):498-513. PubMed ID: 26426912
[TBL] [Abstract][Full Text] [Related]
11. WDR72 models of structure and function: a stage-specific regulator of enamel mineralization.
Katsura KA; Horst JA; Chandra D; Le TQ; Nakano Y; Zhang Y; Horst OV; Zhu L; Le MH; DenBesten PK
Matrix Biol; 2014 Sep; 38():48-58. PubMed ID: 25008349
[TBL] [Abstract][Full Text] [Related]
12. Mutations in RELT cause autosomal recessive amelogenesis imperfecta.
Kim JW; Zhang H; Seymen F; Koruyucu M; Hu Y; Kang J; Kim YJ; Ikeda A; Kasimoglu Y; Bayram M; Zhang C; Kawasaki K; Bartlett JD; Saunders TL; Simmer JP; Hu JC
Clin Genet; 2019 Mar; 95(3):375-383. PubMed ID: 30506946
[TBL] [Abstract][Full Text] [Related]
13. A missense variant in specificity protein 6 (SP6) is associated with amelogenesis imperfecta.
Smith CEL; Whitehouse LLE; Poulter JA; Wilkinson Hewitt L; Nadat F; Jackson BR; Manfield IW; Edwards TA; Rodd HD; Inglehearn CF; Mighell AJ
Hum Mol Genet; 2020 Jun; 29(9):1417-1425. PubMed ID: 32167558
[TBL] [Abstract][Full Text] [Related]
14. FAM20A is essential for amelogenesis, but is dispensable for dentinogenesis.
Li L; Saiyin W; Zhang H; Wang S; Xu Q; Qin C; Lu Y
J Mol Histol; 2019 Dec; 50(6):581-591. PubMed ID: 31667691
[TBL] [Abstract][Full Text] [Related]
15. A novel small deletion in the NHS gene associated with Nance-Horan syndrome.
Li H; Yang L; Sun Z; Yuan Z; Wu S; Sui R
Sci Rep; 2018 Feb; 8(1):2398. PubMed ID: 29402928
[TBL] [Abstract][Full Text] [Related]
16. Identification of a novel mutation in a Chinese family with Nance-Horan syndrome by whole exome sequencing.
Hong N; Chen YH; Xie C; Xu BS; Huang H; Li X; Yang YQ; Huang YP; Deng JL; Qi M; Gu YS
J Zhejiang Univ Sci B; 2014 Aug; 15(8):727-34. PubMed ID: 25091991
[TBL] [Abstract][Full Text] [Related]
17. Novel ENAM mutation responsible for autosomal recessive amelogenesis imperfecta and localised enamel defects.
Hart TC; Hart PS; Gorry MC; Michalec MD; Ryu OH; Uygur C; Ozdemir D; Firatli S; Aren G; Firatli E
J Med Genet; 2003 Dec; 40(12):900-6. PubMed ID: 14684688
[TBL] [Abstract][Full Text] [Related]
18. Whole-Exome sequencing identifies FAM20A mutations as a cause of amelogenesis imperfecta and gingival hyperplasia syndrome.
O'Sullivan J; Bitu CC; Daly SB; Urquhart JE; Barron MJ; Bhaskar SS; Martelli-Júnior H; dos Santos Neto PE; Mansilla MA; Murray JC; Coletta RD; Black GC; Dixon MJ
Am J Hum Genet; 2011 May; 88(5):616-20. PubMed ID: 21549343
[TBL] [Abstract][Full Text] [Related]
19. NHS Gene Mutations in Ashkenazi Jewish Families with Nance-Horan Syndrome.
Shoshany N; Avni I; Morad Y; Weiner C; Einan-Lifshitz A; Pras E
Curr Eye Res; 2017 Sep; 42(9):1240-1244. PubMed ID: 28557584
[TBL] [Abstract][Full Text] [Related]
20. A mutation in the mouse Amelx tri-tyrosyl domain results in impaired secretion of amelogenin and phenocopies human X-linked amelogenesis imperfecta.
Barron MJ; Brookes SJ; Kirkham J; Shore RC; Hunt C; Mironov A; Kingswell NJ; Maycock J; Shuttleworth CA; Dixon MJ
Hum Mol Genet; 2010 Apr; 19(7):1230-47. PubMed ID: 20067920
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
