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Loss of FOCAD, operating via the SKI messenger RNA surveillance pathway, causes a pediatric syndrome with liver cirrhosis.
Moreno Traspas R, Teoh TS, Wong PM, Maier M, Chia CY, Lay K, Ali NA, Larson A, Al Mutairi F, Al-Sannaa NA, Faqeih EA, Alfadhel M, Cheema HA, Dupont J, Bézieau S, Isidor B, Low DY, Wang Y, Tan G, Lai PS, Piloquet H, Joubert M, Kayserili H, Kripps KA, Nahas SA, Wartchow EP, Warren M, Bhavani GS, Dasouki M, Sandoval R, Carvalho E, Ramos L, Porta G, Wu B, Lashkari HP, AlSaleem B, BaAbbad RM, Abreu Ferrão AN, Karageorgou V, Ordonez-Herrera N, Khan S, Bauer P, Cogne B, Bertoli-Avella AM, Vincent M, Girisha KM, Reversade B. Moreno Traspas R, et al. Among authors: wong pm. Nat Genet. 2022 Aug;54(8):1214-1226. doi: 10.1038/s41588-022-01120-0. Epub 2022 Jul 21. Nat Genet. 2022. PMID: 35864190
RABENOSYN separation-of-function mutations uncouple endosomal recycling from lysosomal degradation, causing a distinct Mendelian Disorder.
Paul F, Ng C, Sahari UBM, Nafissi S, Nilipoor Y, Tavasoli AR, Bonnard C, Wong PM, Nabavizadeh N, Altunoğlu U, Estiar MA, Majoie CB, Lee H, Nelson SF, Gan-Or Z, Rouleau GA, Van Veldhoven PP, Massie R, Hennekam RC, Kariminejad A, Reversade B. Paul F, et al. Among authors: wong pm. Hum Mol Genet. 2022 Jun 2:ddac120. doi: 10.1093/hmg/ddac120. Online ahead of print. Hum Mol Genet. 2022. PMID: 35652444
C10orf99/GPR15L Regulates Proinflammatory Response of Keratinocytes and Barrier Formation of the Skin.
Dainichi T, Nakano Y, Doi H, Nakamizo S, Nakajima S, Matsumoto R, Farkas T, Wong PM, Narang V, Moreno Traspas R, Kawakami E, Guttman-Yassky E, Dreesen O, Litman T, Reversade B, Kabashima K. Dainichi T, et al. Among authors: wong pm. Front Immunol. 2022 Feb 22;13:825032. doi: 10.3389/fimmu.2022.825032. eCollection 2022. Front Immunol. 2022. PMID: 35273606 Free PMC article.
100 results