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Biallelic Cys141Tyr variant of SEL1L is associated with neurodevelopmental disorders, agammaglobulinemia, and premature death.
Weis D, Lin LL, Wang HH, Li ZJ, Kusikova K, Ciznar P, Wolf HM, Leiss-Piller A, Wang Z, Wei X, Weis S, Skalicka K, Hrckova G, Danisovic L, Soltysova A, Yang TT, Feichtinger RG, Mayr JA, Qi L. Weis D, et al. Among authors: qi l. J Clin Invest. 2024 Jan 16;134(2):e170882. doi: 10.1172/JCI170882. J Clin Invest. 2024. PMID: 37943617 Free PMC article.
Hypomorphic variants of SEL1L-HRD1 ER-associated degradation are associated with neurodevelopmental disorders.
Wang HH, Lin LL, Li ZJ, Wei X, Askander O, Cappuccio G, Hashem MO, Hubert L, Munnich A, Alqahtani M, Pang Q, Burmeister M, Lu Y, Poirier K, Besmond C, Sun S, Brunetti-Pierri N, Alkuraya FS, Qi L. Wang HH, et al. Among authors: qi l. J Clin Invest. 2024 Jan 16;134(2):e170054. doi: 10.1172/JCI170054. J Clin Invest. 2024. PMID: 37943610 Free PMC article.
Role of Sec61α2 Translocon in Insulin Biosynthesis.
Xu X, Bell TW, Le T, Zhao I, Walker E, Wang Y, Xu N, Soleimanpour SA, Russ HA, Qi L, Tsai B, Liu M, Arvan P. Xu X, et al. Among authors: qi l. Diabetes. 2024 Dec 1;73(12):2034-2044. doi: 10.2337/db24-0115. Diabetes. 2024. PMID: 39325584
Drug Development.
Bertucci T, Bowles K, Lotz S, Qi L, Stevens K, Goderie SK, Borden S, Oja LM, Lane K, Lotz R, Lotz H, Chowdhury R, Joy S, Arduini B, Butler D, Miller M, Baron H, Sandhof CA, Silva MC, Haggarty S, Geschwind DH, Goate AM, Temple S. Bertucci T, et al. Among authors: qi l. Alzheimers Dement. 2024 Dec;20 Suppl 6(Suppl 6):e087353. doi: 10.1002/alz.087353. Alzheimers Dement. 2024. PMID: 39782544 Free PMC article.
5,719 results