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Mutations in TMEM260 Cause a Pediatric Neurodevelopmental, Cardiac, and Renal Syndrome.
Ta-Shma A, Khan TN, Vivante A, Willer JR, Matak P, Jalas C, Pode-Shakked B, Salem Y, Anikster Y, Hildebrandt F, Katsanis N, Elpeleg O, Davis EE. Ta-Shma A, et al. Among authors: matak p. Am J Hum Genet. 2017 Apr 6;100(4):666-675. doi: 10.1016/j.ajhg.2017.02.007. Epub 2017 Mar 16. Am J Hum Genet. 2017. PMID: 28318500 Free PMC article.
Temperature-activated ion channels in neural crest cells confer maternal fever-associated birth defects.
Hutson MR, Keyte AL, Hernández-Morales M, Gibbs E, Kupchinsky ZA, Argyridis I, Erwin KN, Pegram K, Kneifel M, Rosenberg PB, Matak P, Xie L, Grandl J, Davis EE, Katsanis N, Liu C, Benner EJ. Hutson MR, et al. Among authors: matak p. Sci Signal. 2017 Oct 10;10(500):eaal4055. doi: 10.1126/scisignal.aal4055. Sci Signal. 2017. PMID: 29018170 Free PMC article.
Severe Iron Metabolism Defects in Mice With Double Knockout of the Multicopper Ferroxidases Hephaestin and Ceruloplasmin.
Fuqua BK, Lu Y, Frazer DM, Darshan D, Wilkins SJ, Dunn L, Loguinov AV, Kogan SC, Matak P, Chen H, Dunaief JL, Vulpe CD, Anderson GJ. Fuqua BK, et al. Among authors: matak p. Cell Mol Gastroenterol Hepatol. 2018 Jun 23;6(4):405-427. doi: 10.1016/j.jcmgh.2018.06.006. eCollection 2018. Cell Mol Gastroenterol Hepatol. 2018. PMID: 30182051 Free PMC article.
21 results