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Novel mutations in the ciliopathy-associated gene CPLANE1 (C5orf42) cause OFD syndrome type VI rather than Joubert syndrome.
Bonnard C, Shboul M, Tonekaboni SH, Ng AYJ, Tohari S, Ghosh K, Lai A, Lim JY, Tan EC, Devisme L, Stichelbout M, Alkindi A, Banu N, Yüksel Z, Ghoumid J, Elkhartoufi N, Boutaud L, Micalizzi A, Brett MS, Venkatesh B, Valente EM, Attié-Bitach T, Reversade B, Kariminejad A. Bonnard C, et al. Among authors: ghosh k. Eur J Med Genet. 2018 Oct;61(10):585-595. doi: 10.1016/j.ejmg.2018.03.012. Epub 2018 Mar 30. Eur J Med Genet. 2018. PMID: 29605658
IL11 is elevated in systemic sclerosis and IL11-dependent ERK signalling underlies TGFβ-mediated activation of dermal fibroblasts.
Adami E, Viswanathan S, Widjaja AA, Ng B, Chothani S, Zhihao N, Tan J, Lio PM, George BL, Altunoglu U, Ghosh K, Paleja BS, Schafer S, Reversade B, Albani S, Ling ALH, O'Reilly S, Cook SA. Adami E, et al. Among authors: ghosh k. Rheumatology (Oxford). 2021 Dec 1;60(12):5820-5826. doi: 10.1093/rheumatology/keab168. Rheumatology (Oxford). 2021. PMID: 33590875 Free PMC article.
2,075 results