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TLE6 mutation causes the earliest known human embryonic lethality.
Alazami AM, Awad SM, Coskun S, Al-Hassan S, Hijazi H, Abdulwahab FM, Poizat C, Alkuraya FS. Alazami AM, et al. Among authors: poizat c. Genome Biol. 2015 Nov 5;16:240. doi: 10.1186/s13059-015-0792-0. Genome Biol. 2015. PMID: 26537248 Free PMC article.
Mutations in CSPP1, encoding a core centrosomal protein, cause a range of ciliopathy phenotypes in humans.
Shaheen R, Shamseldin HE, Loucks CM, Seidahmed MZ, Ansari S, Ibrahim Khalil M, Al-Yacoub N, Davis EE, Mola NA, Szymanska K, Herridge W, Chudley AE, Chodirker BN, Schwartzentruber J, Majewski J, Katsanis N, Poizat C, Johnson CA, Parboosingh J, Boycott KM, Innes AM, Alkuraya FS. Shaheen R, et al. Among authors: poizat c. Am J Hum Genet. 2014 Jan 2;94(1):73-9. doi: 10.1016/j.ajhg.2013.11.010. Epub 2013 Dec 19. Am J Hum Genet. 2014. PMID: 24360803 Free PMC article.
Deletion of low molecular weight protein tyrosine phosphatase (Acp1) protects against stress-induced cardiomyopathy.
Wade F, Quijada P, Al-Haffar KM, Awad SM, Kunhi M, Toko H, Marashly Q, Belhaj K, Zahid I, Al-Mohanna F, Stanford SM, Alvarez R, Liu Y, Colak D, Jordan MC, Roos KP, Assiri A, Al-Habeeb W, Sussman M, Bottini N, Poizat C. Wade F, et al. Among authors: poizat c. J Pathol. 2015 Dec;237(4):482-94. doi: 10.1002/path.4594. Epub 2015 Sep 1. J Pathol. 2015. PMID: 26213100 Free PMC article.
40 results