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Loss of function mutation in the palmitoyl-transferase HHAT leads to syndromic 46,XY disorder of sex development by impeding Hedgehog protein palmitoylation and signaling.
Callier P, Calvel P, Matevossian A, Makrythanasis P, Bernard P, Kurosaka H, Vannier A, Thauvin-Robinet C, Borel C, Mazaud-Guittot S, Rolland A, Desdoits-Lethimonier C, Guipponi M, Zimmermann C, Stévant I, Kuhne F, Conne B, Santoni F, Lambert S, Huet F, Mugneret F, Jaruzelska J, Faivre L, Wilhelm D, Jégou B, Trainor PA, Resh MD, Antonarakis SE, Nef S. Callier P, et al. Among authors: antonarakis se. PLoS Genet. 2014 May 1;10(5):e1004340. doi: 10.1371/journal.pgen.1004340. eCollection 2014 May. PLoS Genet. 2014. PMID: 24784881 Free PMC article.
The transmembrane serine protease (TMPRSS3) mutated in deafness DFNB8/10 activates the epithelial sodium channel (ENaC) in vitro.
Guipponi M, Vuagniaux G, Wattenhofer M, Shibuya K, Vazquez M, Dougherty L, Scamuffa N, Guida E, Okui M, Rossier C, Hancock M, Buchet K, Reymond A, Hummler E, Marzella PL, Kudoh J, Shimizu N, Scott HS, Antonarakis SE, Rossier BC. Guipponi M, et al. Among authors: antonarakis se. Hum Mol Genet. 2002 Nov 1;11(23):2829-36. doi: 10.1093/hmg/11.23.2829. Hum Mol Genet. 2002. PMID: 12393794
Human microRNA-155 on chromosome 21 differentially interacts with its polymorphic target in the AGTR1 3' untranslated region: a mechanism for functional single-nucleotide polymorphisms related to phenotypes.
Sethupathy P, Borel C, Gagnebin M, Grant GR, Deutsch S, Elton TS, Hatzigeorgiou AG, Antonarakis SE. Sethupathy P, et al. Among authors: antonarakis se. Am J Hum Genet. 2007 Aug;81(2):405-13. doi: 10.1086/519979. Epub 2007 Jul 12. Am J Hum Genet. 2007. PMID: 17668390 Free PMC article.
Mapping of small RNAs in the human ENCODE regions.
Borel C, Gagnebin M, Gehrig C, Kriventseva EV, Zdobnov EM, Antonarakis SE. Borel C, et al. Among authors: antonarakis se. Am J Hum Genet. 2008 Apr;82(4):971-81. doi: 10.1016/j.ajhg.2008.02.016. Am J Hum Genet. 2008. PMID: 18394580 Free PMC article.
Transcriptional and post-transcriptional profile of human chromosome 21.
Nikolaev SI, Deutsch S, Genolet R, Borel C, Parand L, Ucla C, Schütz F, Duriaux Sail G, Dupré Y, Jaquier-Gubler P, Araud T, Conne B, Descombes P, Vassalli JD, Curran J, Antonarakis SE. Nikolaev SI, et al. Among authors: antonarakis se. Genome Res. 2009 Aug;19(8):1471-9. doi: 10.1101/gr.089425.108. Epub 2009 Jul 6. Genome Res. 2009. PMID: 19581486 Free PMC article.
656 results