Literature DB >> 23697977

Autosomal recessive gingival hyperplasia and dental anomalies caused by a 29-base pair duplication in the FAM20A gene.

Rita M Cabral, Mazen Kurban, Lisa Rothman, Muhammad Wajid, Yutaka Shimomura, Lynn Petukhova, Angela M Christiano.   

Abstract

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Year:  2013        PMID： 23697977     DOI： 10.1038/jhg.2013.44

Source DB:  PubMed          Journal:  J Hum Genet        ISSN： 1434-5161            Impact factor:   3.172


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  6 in total

1.  A secretory kinase complex regulates extracellular protein phosphorylation.

Authors:  Jixin Cui; Junyu Xiao; Vincent S Tagliabracci; Jianzhong Wen; Meghdad Rahdar; Jack E Dixon
Journal:  Elife       Date:  2015-03-19       Impact factor: 8.140

Review 2.  Pathognomonic oral profile of Enamel Renal Syndrome (ERS) caused by recessive FAM20A mutations.

Authors:  Muriel de la Dure-Molla; Mickael Quentric; Paulo Marcio Yamaguti; Ana-Carolina Acevedo; Alan J Mighell; Miikka Vikkula; Mathilde Huckert; Ariane Berdal; Agnes Bloch-Zupan
Journal:  Orphanet J Rare Dis       Date:  2014-06-14       Impact factor: 4.123

Review 3.  The ABCs of the atypical Fam20 secretory pathway kinases.

Authors:  Carolyn A Worby; Joshua E Mayfield; Adam J Pollak; Jack E Dixon; Sourav Banerjee
Journal:  J Biol Chem       Date:  2021-01-08       Impact factor: 5.157

4.  A distinctive oral phenotype points to FAM20A mutations not identified by Sanger sequencing.

Authors:  James A Poulter; Claire E L Smith; Gina Murrillo; Sandra Silva; Sally Feather; Marianella Howell; Laura Crinnion; David T Bonthron; Ian M Carr; Christopher M Watson; Chris F Inglehearn; Alan J Mighell
Journal:  Mol Genet Genomic Med       Date:  2015-10-04       Impact factor: 2.183

5.  FAM20A Gene Mutation: Amelogenesis or Ectopic Mineralization?

Authors:  Guilhem Lignon; Fleur Beres; Mickael Quentric; Stephan Rouzière; Raphael Weil; Muriel De La Dure-Molla; Adrien Naveau; Renata Kozyraki; Arnaud Dessombz; Ariane Berdal
Journal:  Front Physiol       Date:  2017-05-03       Impact factor: 4.566

6.  Structure of Fam20A reveals a pseudokinase featuring a unique disulfide pattern and inverted ATP-binding.

Authors:  Jixin Cui; Qinyu Zhu; Hui Zhang; Michael A Cianfrocco; Andres E Leschziner; Jack E Dixon; Junyu Xiao
Journal:  Elife       Date:  2017-04-22       Impact factor: 8.140
  6 in total

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