| FAM20A-Associated Amelogenesis Imperfecta: Gene Variants with Functional Verification and Histological Features. | FAM20A-Associated Amelogenesis Imperfecta: Gene Variants with Functional Verification and Histological Features.
Ding JN, Yu M, Liu HC, Sun K, Wang J, Xu XL, Liu Y, Han D. | 03/29/2024 |
| FAM20A is a golgi-localized Type II transmembrane protein. | FAM20A is a golgi-localized Type II transmembrane protein.
Siddiqui MF, Li J, Wang S, Zhang H, Qin C, Lu Y., Free PMC Article | 03/20/2024 |
| Deep dental phenotyping and a novel FAM20A variant in patients with amelogenesis imperfecta type IG. | Deep dental phenotyping and a novel FAM20A variant in patients with amelogenesis imperfecta type IG.
Sriwattanapong K, Theerapanon T, Khamwachirapitak C, Sae-Ear P, Srijunbarl A, Porntaveetus T, Shotelersuk V. | 03/1/2024 |
| FAM20A mutations and transcriptome analyses of dental pulp tissues of enamel renal syndrome. | FAM20A mutations and transcriptome analyses of dental pulp tissues of enamel renal syndrome.
Wang SK, Zhang H, Wang YL, Lin HY, Seymen F, Koruyucu M, Wright JT, Kim JW, Simmer JP, Hu JC., | 07/13/2023 |
| Two new families with enamel renal syndrome: A novel FAM20A gene mutation and review of literature. | Two new families with enamel renal syndrome: A novel FAM20A gene mutation and review of literature.
Hassib NF, Shoeib MA, ElSadek HA, Wali ME, Mostafa MI, Abdel-Hamid MS. | 05/1/2021 |
| Whole exome sequencing (WES) identified that Pt-1 was heterozygous for FAM20A, c.758A > G (p.Tyr253Cys), inherited from her father. The mutation on maternal allele was not detected by WES. Pt-2 possessed compound heterozygous mutations, c.1248dupG (p.Phe417Valfs*7); c.1081C > T (p.Arg361Cys) in FAM20A. | Four novel mutations of FAM20A in amelogenesis imperfecta type IG and review of literature for its genotype and phenotype spectra.
Nitayavardhana I, Theerapanon T, Srichomthong C, Piwluang S, Wichadakul D, Porntaveetus T, Shotelersuk V. | 06/27/2020 |
| Here we report the largest series of patients with Enamel renal syndrome in a same population, and describe, for the first time, a founder mutation for FAM20A. | Enamel renal syndrome: A novel homozygous FAM20A founder mutation in 5 new Brazilian families.
Dourado MR, Dos Santos CRR, Dumitriu S, Iancu D, Albanyan S, Kleta R, Coletta RD, Marques Mesquita AT. | 02/8/2020 |
| Mutations in LAMB3 and FAM20A were found in 3 Turkish families with Amelogenesis imperfecta | Candidate gene sequencing reveals mutations causing hypoplastic amelogenesis imperfecta.
Kim YJ, Seymen F, Kang J, Koruyucu M, Tuloglu N, Bayrak S, Tuna EB, Lee ZH, Shin TJ, Hyun HK, Kim YJ, Lee SH, Hu J, Simmer J, Kim JW., Free PMC Article | 12/21/2019 |
| Recessive FAM20A mutations can cause nephrocalcinosis in addition to the oral phenotype | Nephrocalcinosis in Amelogenesis Imperfecta Caused by the FAM20A Mutation.
Koruyucu M, Seymen F, Gencay G, Gencay K, Tuna EB, Shin TJ, Hyun HK, Kim YJ, Kim JW. | 11/2/2019 |
| Physicochemical analysis of human pulpal mineralization secondary to FAM20A mutations. | Physicochemical analysis of human pulpal mineralization secondary to FAM20A mutations.
Berès F, Lignon G, Rouzière S, Mauprivez C, Simon S, Berdal A, Dessombz A. | 06/22/2019 |
| three patients with homozygous or compound heterozygous mutations in FAM20A and findings that extend the phenotypic spectrum of this disorder, showing that protein truncation is associated with greater clinical severity. | Periodontal disease and FAM20A mutations.
Kantaputra PN, Bongkochwilawan C, Lubinsky M, Pata S, Kaewgahya M, Tong HJ, Ketudat Cairns JR, Guven Y, Chaisrisookumporn N. | 03/31/2018 |
| Fam20A potentiates Fam20C kinase activity and promotes the phosphorylation of enamel matrix proteins in vitro. | A secretory kinase complex regulates extracellular protein phosphorylation.
Cui J, Xiao J, Tagliabracci VS, Wen J, Rahdar M, Dixon JE., Free PMC Article | 01/16/2016 |
| our findings support the suggestion that enamel-renal and AIGFSs are actually the same entity with different manifestations, associated with FAM20A mutations. | Enamel-renal-gingival syndrome and FAM20A mutations.
Kantaputra PN, Kaewgahya M, Khemaleelakul U, Dejkhamron P, Sutthimethakorn S, Thongboonkerd V, Iamaroon A. | 04/18/2015 |
| the first duplication in FAM20A and the fifth independent mutation associated with gingival hyperplasia and dental anomalies, is reported. | Autosomal recessive gingival hyperplasia and dental anomalies caused by a 29-base pair duplication in the FAM20A gene.
Cabral RM, Kurban M, Rothman L, Wajid M, Shimomura Y, Petukhova L, Christiano AM. | 05/3/2014 |
| study identified 3 novel FAM20A mutations that caused autosomal-recessive amelogenesis imperfecta with delayed and arrested tooth eruption; conclude that FAM20A is likely a secretory pathway kinase and that loss-of-function mutations cause pathology where its phosphorylations are necessary for normal development or homeostasis | 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., Free PMC Article | 03/22/2014 |
| Data indicate that autosomal recessive FAM20A mutations causes nephrocalcinosis and amelogenesis imperfecta. | Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations.
Jaureguiberry G, De la Dure-Molla M, Parry D, Quentric M, Himmerkus N, Koike T, Poulter J, Klootwijk E, Robinette SL, Howie AJ, Patel V, Figueres ML, Stanescu HC, Issler N, Nicholson JK, Bockenhauer D, Laing C, Walsh SB, McCredie DA, Povey S, Asselin A, Picard A, Coulomb A, Medlar AJ, Bailleul-Forestier I, Verloes A, Le Caignec C, Roussey G, Guiol J, Isidor B, Logan C, Shore R, Johnson C, Inglehearn C, Al-Bahlani S, Schmittbuhl M, Clauss F, Huckert M, Laugel V, Ginglinger E, Pajarola S, Spartà G, Bartholdi D, Rauch A, Addor MC, Yamaguti PM, Safatle HP, Acevedo AC, Martelli-Júnior H, dos Santos Netos PE, Coletta RD, Gruessel S, Sandmann C, Ruehmann D, Langman CB, Scheinman SJ, Ozdemir-Ozenen D, Hart TC, Hart PS, Neugebauer U, Schlatter E, Houillier P, Gahl WA, Vikkula M, Bloch-Zupan A, Bleich M, Kitagawa H, Unwin RJ, Mighell A, Berdal A, Kleta R., Free PMC Article | 10/26/2013 |
| we conclude that FAM20A, which has a kinase homology domain and localizes to the Golgi, is a putative Golgi kinase that plays a significant role in the regulation of biomineralization processes. | FAM20A mutations can cause enamel-renal syndrome (ERS).
Wang SK, Aref P, Hu Y, Milkovich RN, Simmer JP, El-Khateeb M, Daggag H, Baqain ZH, Hu JC., Free PMC Article | 06/15/2013 |
| Myocardial infarction is distinguished by the up-regulation of SOCS3 and FAM20A genes within first days in the vast majority of patients. | Altered gene expression pattern in peripheral blood mononuclear cells in patients with acute myocardial infarction.
Kiliszek M, Burzynska B, Michalak M, Gora M, Winkler A, Maciejak A, Leszczynska A, Gajda E, Kochanowski J, Opolski G., Free PMC Article | 05/18/2013 |
| Three homozygous mutations in three families, and a compound heterozygous mutation in one family with hypoplastic amelogenesis imperfecta have been identified in FAM20A. | Novel FAM20A mutations in hypoplastic amelogenesis imperfecta.
Cho SH, Seymen F, Lee KE, Lee SK, Kweon YS, Kim KJ, Jung SE, Song SJ, Yildirim M, Bayram M, Tuna EB, Gencay K, Kim JW. | 04/28/2012 |
| We identified a homozygous nonsense mutation in exon 2 of FAM20A that was not present in the Single Nucleotide Polymorphism database (dbSNP), the 1000 Genomes database, or the Centre d'Etude du Polymorphisme Humain (CEPH) Diversity Panel. | 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, 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., Free PMC Articles: PMC3146735, PMC3146735 | 08/20/2011 |
| A homozygous nonsense mutation in exon 2 of FAM20A underlies Amelogenesis imperfecta (AI) -- disorders of biomineralization resulting from failure of normal enamel formation. | 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, 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., Free PMC Articles: PMC3146735, PMC3146735 | 05/23/2011 |