tmem87b

Summary

Gene Symbol: tmem87b
Description: transmembrane protein 87B
Alias: transmembrane protein 87B, LOW QUALITY PROTEIN: transmembrane protein 87B, zmp:0000001089
Species: zebrafish

Top Publications

  1. Russell M, Raeker M, Geisler S, Thomas P, Simmons T, Bernat J, et al. Functional analysis of candidate genes in 2q13 deletion syndrome implicates FBLN7 and TMEM87B deficiency in congenital heart defects and FBLN7 in craniofacial malformations. Hum Mol Genet. 2014;23:4272-84 pubmed publisher
    ..b>TMEM87B depletion likewise resulted in cardiac hypoplasia but with preserved branchial arch development...
  2. Maugars G, Dufour S. Demonstration of the Coexistence of Duplicated LH Receptors in Teleosts, and Their Origin in Ancestral Actinopterygians. PLoS ONE. 2015;10:e0135184 pubmed publisher
    ..This study revises the evolutionary scenario and nomenclature of gonadotropin receptors, and opens new research avenues on the roles of duplicated LHR in actinopterygians. ..
  3. Yu H, Coughlin C, Geiger E, Salvador B, Elias E, Cavanaugh J, et al. Discovery of a potentially deleterious variant in TMEM87B in a patient with a hemizygous 2q13 microdeletion suggests a recessive condition characterized by congenital heart disease and restrictive cardiomyopathy. Cold Spring Harb Mol Case Stud. 2016;2:a000844 pubmed publisher
    ..Whole-exome sequencing (WES) with trio-based analysis was performed and identified a paternally inherited TMEM87B mutation (c.1366A>G, p.Asn456Asp) in the patient...

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