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Drastic neofunctionalization associated with evolution of the timezyme AANAT 500 Mya.
Falcón J, Coon SL, Besseau L, Cazaméa-Catalan D, Fuentès M, Magnanou E, Paulin CH, Boeuf G, Sauzet S, Jørgensen EH, Mazan S, Wolf YI, Koonin EV, Steinbach PJ, Hyodo S, Klein DC. Falcón J, et al. Among authors: steinbach pj. Proc Natl Acad Sci U S A. 2014 Jan 7;111(1):314-9. doi: 10.1073/pnas.1312634110. Epub 2013 Dec 18. Proc Natl Acad Sci U S A. 2014. PMID: 24351931 Free PMC article.
Bi-allelic SNAPC4 variants dysregulate global alternative splicing and lead to neuroregression and progressive spastic paraparesis.
Frost FG, Morimoto M, Sharma P, Ruaud L, Belnap N, Calame DG, Uchiyama Y, Matsumoto N, Oud MM, Ferreira EA, Narayanan V, Rangasamy S, Huentelman M, Emrick LT, Sato-Shirai I, Kumada S, Wolf NI, Steinbach PJ, Huang Y; Undiagnosed Diseases Network; Pusey BN, Passemard S, Levy J, Drunat S, Vincent M, Guet A, Agolini E, Novelli A, Digilio MC, Rosenfeld JA, Murphy JL, Lupski JR, Vezina G, Macnamara EF, Adams DR, Acosta MT, Tifft CJ, Gahl WA, Malicdan MCV. Frost FG, et al. Among authors: steinbach pj. Am J Hum Genet. 2023 Apr 6;110(4):663-680. doi: 10.1016/j.ajhg.2023.03.001. Epub 2023 Mar 24. Am J Hum Genet. 2023. PMID: 36965478 Free PMC article.
HLA and autoantibodies define scleroderma subtypes and risk in African and European Americans and suggest a role for molecular mimicry.
Gourh P, Safran SA, Alexander T, Boyden SE, Morgan ND, Shah AA, Mayes MD, Doumatey A, Bentley AR, Shriner D, Domsic RT, Medsger TA Jr, Ramos PS, Silver RM, Steen VD, Varga J, Hsu V, Saketkoo LA, Schiopu E, Khanna D, Gordon JK, Kron B, Criswell LA, Gladue H, Derk CT, Bernstein EJ, Bridges SL Jr, Shanmugam VK, Kolstad KD, Chung L, Kafaja S, Jan R, Trojanowski M, Goldberg A, Korman BD, Steinbach PJ, Chandrasekharappa SC, Mullikin JC, Adeyemo A, Rotimi C, Wigley FM, Kastner DL, Boin F, Remmers EF. Gourh P, et al. Among authors: steinbach pj. Proc Natl Acad Sci U S A. 2020 Jan 7;117(1):552-562. doi: 10.1073/pnas.1906593116. Epub 2019 Dec 23. Proc Natl Acad Sci U S A. 2020. PMID: 31871193 Free PMC article.
56 results