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Mutations in a member of the ADAMTS gene family cause thrombotic thrombocytopenic purpura.
Levy GG, Nichols WC, Lian EC, Foroud T, McClintick JN, McGee BM, Yang AY, Siemieniak DR, Stark KR, Gruppo R, Sarode R, Shurin SB, Chandrasekaran V, Stabler SP, Sabio H, Bouhassira EE, Upshaw JD Jr, Ginsburg D, Tsai HM. Levy GG, et al. Among authors: mcgee bm. Nature. 2001 Oct 4;413(6855):488-94. doi: 10.1038/35097008. Nature. 2001. PMID: 11586351 Free article.
Functions of the COPII gene paralogs SEC23A and SEC23B are interchangeable in vivo.
Khoriaty R, Hesketh GG, Bernard A, Weyand AC, Mellacheruvu D, Zhu G, Hoenerhoff MJ, McGee B, Everett L, Adams EJ, Zhang B, Saunders TL, Nesvizhskii AI, Klionsky DJ, Shavit JA, Gingras AC, Ginsburg D. Khoriaty R, et al. Among authors: mcgee b. Proc Natl Acad Sci U S A. 2018 Aug 14;115(33):E7748-E7757. doi: 10.1073/pnas.1805784115. Epub 2018 Jul 31. Proc Natl Acad Sci U S A. 2018. PMID: 30065114 Free PMC article.
SEC23A rescues SEC23B-deficient congenital dyserythropoietic anemia type II.
King R, Lin Z, Balbin-Cuesta G, Myers G, Friedman A, Zhu G, McGee B, Saunders TL, Kurita R, Nakamura Y, Engel JD, Reddy P, Khoriaty R. King R, et al. Among authors: mcgee b. Sci Adv. 2021 Nov 26;7(48):eabj5293. doi: 10.1126/sciadv.abj5293. Epub 2021 Nov 24. Sci Adv. 2021. PMID: 34818036 Free PMC article.
LMAN1 serves as a cargo receptor for thrombopoietin.
Everett LA, Lin Z, Friedman A, Tang VT, Myers G, Balbin-Cuesta G, King R, Zhu G, McGee B, Khoriaty R. Everett LA, et al. Among authors: mcgee b. JCI Insight. 2024 Nov 5:e175704. doi: 10.1172/jci.insight.175704. Online ahead of print. JCI Insight. 2024. PMID: 39499573 Free article.
Combined deficiency of factor V and factor VIII is due to mutations in either LMAN1 or MCFD2.
Zhang B, McGee B, Yamaoka JS, Guglielmone H, Downes KA, Minoldo S, Jarchum G, Peyvandi F, de Bosch NB, Ruiz-Saez A, Chatelain B, Olpinski M, Bockenstedt P, Sperl W, Kaufman RJ, Nichols WC, Tuddenham EG, Ginsburg D. Zhang B, et al. Among authors: mcgee b. Blood. 2006 Mar 1;107(5):1903-7. doi: 10.1182/blood-2005-09-3620. Epub 2005 Nov 22. Blood. 2006. PMID: 16304051 Free PMC article.
136 results