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Protein-elongating mutations in MYH11 are implicated in a dominantly inherited smooth muscle dysmotility syndrome with severe esophageal, gastric, and intestinal disease.
Gilbert MA, Schultz-Rogers L, Rajagopalan R, Grochowski CM, Wilkins BJ, Biswas S, Conlin LK, Fiorino KN, Dhamija R, Pack MA, Klee EW, Piccoli DA, Spinner NB. Gilbert MA, et al. Among authors: wilkins bj. Hum Mutat. 2020 May;41(5):973-982. doi: 10.1002/humu.23986. Epub 2020 Feb 6. Hum Mutat. 2020. PMID: 31944481
GDF15 is a heart-derived hormone that regulates body growth.
Wang T, Liu J, McDonald C, Lupino K, Zhai X, Wilkins BJ, Hakonarson H, Pei L. Wang T, et al. Among authors: wilkins bj. EMBO Mol Med. 2017 Aug;9(8):1150-1164. doi: 10.15252/emmm.201707604. EMBO Mol Med. 2017. PMID: 28572090 Free PMC article.
73 results