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GoPubMed Proteins lists recent and important papers and reviews for proteins. Page last changed on 19 Dec 2016.

Family with sequence similarity 20, member A

This locus encodes a protein that is likely secreted and may function in hematopoiesis. A mutation at this locus has been associated with amelogenesis imperfecta and gingival hyperplasia syndrome. Alternatively spliced transcript variants have been identified. [provided by RefSeq, Aug 2011] (from NCBI)
Top mentioned proteins: CAN, HAD, OUT, SET, SIMPLE
Papers on Fam20a
A distinctive oral phenotype points to FAM20A mutations not identified by Sanger sequencing.
Mighell et al., Leeds, United Kingdom. In Mol Genet Genomic Med, Nov 2015
Biallelic FAM20A mutations cause two conditions where Amelogenesis Imperfecta (AI) is the presenting feature: Amelogenesis Imperfecta and Gingival Fibromatosis Syndrome; and Enamel Renal Syndrome.
Novel FAM20A mutation causes autosomal recessive amelogenesis imperfecta.
Birk et al., Beersheba, Israel. In Arch Oral Biol, Jun 2015
Autosomal recessive or compound heterozygous mutations in FAM20A, encoding sequence similarity 20, member A, have been shown to cause several AI phenotypes.
Pregnane X receptor knockout mice display aging-dependent wearing of articular cartilage.
Inoue et al., Tokyo, Japan. In Plos One, 2014
We hypothesized that genes induced by SXR in chondrocytes have a protective effect on articular cartilage and identified Fam20a (family with sequence similarity 20a) as an SXR-dependent gene induced by the known SXR ligands, rifampicin and vitamin K2.
Further evidence for causal FAM20A mutations and first case of amelogenesis imperfecta and gingival hyperplasia syndrome in Morocco: a case report.
Sefiani et al., Rabat, Morocco. In Bmc Oral Health, 2014
Recently, disease-causing mutations in the FAM20A gene were identified, in families with an autosomal recessive syndrome associating amelogenesis imperfecta and gingival fibromatosis.
Enamel-renal-gingival syndrome and FAM20A mutations.
Iamaroon et al., Chiang Mai, Thailand. In Am J Med Genet A, 2014
The enamel-renal syndrome of amelogenesis imperfecta (AI) and nephrocalcinosis, and the amelogenesis imperfecta-gingival fibromatosis syndrome have both been associated with mutations in FAM20A.
FAM20A mutations associated with enamel renal syndrome.
Hu et al., Ann Arbor, United States. In J Dent Res, 2014
Genetic analyses identified novel FAM20A mutations associated with the disease phenotype in both families.
Pathognomonic oral profile of Enamel Renal Syndrome (ERS) caused by recessive FAM20A mutations.
Bloch-Zupan et al., Paris, France. In Orphanet J Rare Dis, 2013
FAM20A recessive mutations are responsible for both syndromes.
FAM20A mutations can cause enamel-renal syndrome (ERS).
Hu et al., Ann Arbor, United States. In Plos Genet, 2012
Recently, mutations in FAM20A were reported to cause amelogenesis imperfecta and gingival fibromatosis syndrome (AIGFS), which closely resembles ERS except for the renal calcifications.
Amelogenesis imperfecta and other biomineralization defects in Fam20a and Fam20c null mice.
Brommage et al., The Woodlands, United States. In Vet Pathol, 2012
The FAM20 family of secreted proteins consists of three members (FAM20A, FAM20B, and FAM20C) recently linked to developmental disorders suggesting roles for FAM20 proteins in modulating biomineralization processes.
Novel FAM20A mutations in hypoplastic amelogenesis imperfecta.
Kim et al., Seoul, South Korea. In Hum Mutat, 2012
Three homozygous mutations in three families, and a compound heterozygous mutation in one family with hypoplastic amelogenesis imperfecta have been identified in FAM20A.
Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations.
Kleta et al., London, United Kingdom. In Nephron Physiol, 2011
RESULTS: All patients had bi-allelic FAM20A mutations segregating with the disease; 20 different mutations were identified.
Whole-Exome sequencing identifies FAM20A mutations as a cause of amelogenesis imperfecta and gingival hyperplasia syndrome.
Dixon et al., Manchester, United Kingdom. In Am J Hum Genet, 2011
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.
A transgenic mouse line with a 58-kb fragment deletion in chromosome 11E1 that encompasses part of the Fam20a gene and its upstream region shows growth disorder.
Hotta et al., Kōbe, Japan. In Kobe J Med Sci, 2009
Genetic analysis has revealed that the growth disorder is associated with a 58-kb fragment deletion in chromosome 11E1 that encompasses part of the Fam20a gene and part of its upstream region.
FAM20: an evolutionarily conserved family of secreted proteins expressed in hematopoietic cells.
Williams et al., Lubbock, United States. In Bmc Genomics, 2004
This protein is a member of family of related proteins that has been named family with sequence similarity 20 (FAM20) with three members (FAM20A, FAM20B and FAM20C) in mammals.
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