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Tissue-specific cell-free DNA degradation quantifies circulating tumor DNA burden.
Zhu G, Guo YA, Ho D, Poon P, Poh ZW, Wong PM, Gan A, Chang MM, Kleftogiannis D, Lau YT, Tay B, Lim WJ, Chua C, Tan TJ, Koo SL, Chong DQ, Yap YS, Tan I, Ng S, Skanderup AJ. Zhu G, et al. Among authors: wong pm. Nat Commun. 2021 Apr 13;12(1):2229. doi: 10.1038/s41467-021-22463-y. Nat Commun. 2021. PMID: 33850132 Free PMC article.
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 Free PMC article.
RABENOSYN separation-of-function mutations uncouple endosomal recycling from lysosomal degradation, causing a distinct Mendelian disorder.
Paul F, Ng C, Mohamad Sahari UB, 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 Oct 28;31(21):3729-3740. doi: 10.1093/hmg/ddac120. Hum Mol Genet. 2022. PMID: 35652444
ENPP1 Mutation Causes Recessive Cole Disease by Altering Melanogenesis.
Chourabi M, Liew MS, Lim S, H'mida-Ben Brahim D, Boussofara L, Dai L, Wong PM, Foo JN, Sriha B, Robinson KS, Denil S, Common JE, Mamaï O, Ben Khalifa Y, Bollen M, Liu J, Denguezli M, Bonnard C, Saad A, Reversade B. Chourabi M, et al. Among authors: wong pm. J Invest Dermatol. 2018 Feb;138(2):291-300. doi: 10.1016/j.jid.2017.08.045. Epub 2017 Sep 28. J Invest Dermatol. 2018. PMID: 28964717 Free article.
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.
101 results