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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: tohari s. 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
Erythropoietin gene from a teleost fish, Fugu rubripes.
Chou CF, Tohari S, Brenner S, Venkatesh B. Chou CF, et al. Among authors: tohari s. Blood. 2004 Sep 1;104(5):1498-503. doi: 10.1182/blood-2003-10-3404. Epub 2004 May 13. Blood. 2004. PMID: 15142879 Free article.
Evidence for at least six Hox clusters in the Japanese lamprey (Lethenteron japonicum).
Mehta TK, Ravi V, Yamasaki S, Lee AP, Lian MM, Tay BH, Tohari S, Yanai S, Tay A, Brenner S, Venkatesh B. Mehta TK, et al. Among authors: tohari s. Proc Natl Acad Sci U S A. 2013 Oct 1;110(40):16044-9. doi: 10.1073/pnas.1315760110. Epub 2013 Sep 16. Proc Natl Acad Sci U S A. 2013. PMID: 24043829 Free PMC article.
A novel ICK mutation causes ciliary disruption and lethal endocrine-cerebro-osteodysplasia syndrome.
Oud MM, Bonnard C, Mans DA, Altunoglu U, Tohari S, Ng AYJ, Eskin A, Lee H, Rupar CA, de Wagenaar NP, Wu KM, Lahiry P, Pazour GJ, Nelson SF, Hegele RA, Roepman R, Kayserili H, Venkatesh B, Siu VM, Reversade B, Arts HH. Oud MM, et al. Among authors: tohari s. Cilia. 2016 Apr 11;5:8. doi: 10.1186/s13630-016-0029-1. eCollection 2016. Cilia. 2016. PMID: 27069622 Free PMC article.
Loss-of-Function Mutations in LGI4, a Secreted Ligand Involved in Schwann Cell Myelination, Are Responsible for Arthrogryposis Multiplex Congenita.
Xue S, Maluenda J, Marguet F, Shboul M, Quevarec L, Bonnard C, Ng AY, Tohari S, Tan TT, Kong MK, Monaghan KG, Cho MT, Siskind CE, Sampson JB, Rocha CT, Alkazaleh F, Gonzales M, Rigonnot L, Whalen S, Gut M, Gut I, Bucourt M, Venkatesh B, Laquerrière A, Reversade B, Melki J. Xue S, et al. Among authors: tohari s. Am J Hum Genet. 2017 Apr 6;100(4):659-665. doi: 10.1016/j.ajhg.2017.02.006. Epub 2017 Mar 16. Am J Hum Genet. 2017. PMID: 28318499 Free PMC article.
Lampreys, the jawless vertebrates, contain only two ParaHox gene clusters.
Zhang H, Ravi V, Tay BH, Tohari S, Pillai NE, Prasad A, Lin Q, Brenner S, Venkatesh B. Zhang H, et al. Among authors: tohari s. Proc Natl Acad Sci U S A. 2017 Aug 22;114(34):9146-9151. doi: 10.1073/pnas.1704457114. Epub 2017 Aug 7. Proc Natl Acad Sci U S A. 2017. PMID: 28784804 Free PMC article.
CDK10 Mutations in Humans and Mice Cause Severe Growth Retardation, Spine Malformations, and Developmental Delays.
Windpassinger C, Piard J, Bonnard C, Alfadhel M, Lim S, Bisteau X, Blouin S, Ali NB, Ng AYJ, Lu H, Tohari S, Talib SZA, van Hul N, Caldez MJ, Van Maldergem L, Yigit G, Kayserili H, Youssef SA, Coppola V, de Bruin A, Tessarollo L, Choi H, Rupp V, Roetzer K, Roschger P, Klaushofer K, Altmüller J, Roy S, Venkatesh B, Ganger R, Grill F, Ben Chehida F, Wollnik B, Altunoglu U, Al Kaissi A, Reversade B, Kaldis P. Windpassinger C, et al. Among authors: tohari s. Am J Hum Genet. 2017 Sep 7;101(3):391-403. doi: 10.1016/j.ajhg.2017.08.003. Am J Hum Genet. 2017. PMID: 28886341 Free PMC article.
29 results