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1999 1
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2021 4
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PubMed for id: 139394646

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Page 1
Extensive pleiotropism and allelic heterogeneity mediate metabolic effects of IRX3 and IRX5.
Sobreira DR, Joslin AC, Zhang Q, Williamson I, Hansen GT, Farris KM, Sakabe NJ, Sinnott-Armstrong N, Bozek G, Jensen-Cody SO, Flippo KH, Ober C, Bickmore WA, Potthoff M, Chen M, Claussnitzer M, Aneas I, Nóbrega MA. Sobreira DR, et al. Science. 2021 Jun 4;372(6546):1085-1091. doi: 10.1126/science.abf1008. Science. 2021. PMID: 34083488 Free PMC article.
A duplication on chromosome 16q12 affecting the IRXB gene cluster is associated with autosomal dominant cone dystrophy with early tritanopic color vision defect.
Kohl S, Llavona P, Sauer A, Reuter P, Weisschuh N, Kempf M, Dehmelt FA, Arrenberg AB, Sliesoraityte I, Zrenner E, van Schooneveld MJ, Rudolph G, Kühlewein L, Wissinger B. Kohl S, et al. Hum Mol Genet. 2021 Jun 17;30(13):1218-1229. doi: 10.1093/hmg/ddab117. Hum Mol Genet. 2021. PMID: 33891002 Free PMC article.
Human model of IRX5 mutations reveals key role for this transcription factor in ventricular conduction.
Al Sayed ZR, Canac R, Cimarosti B, Bonnard C, Gourraud JB, Hamamy H, Kayserili H, Girardeau A, Jouni M, Jacob N, Gaignerie A, Chariau C, David L, Forest V, Marionneau C, Charpentier F, Loussouarn G, Lamirault G, Reversade B, Zibara K, Lemarchand P, Gaborit N. Al Sayed ZR, et al. Cardiovasc Res. 2021 Jul 27;117(9):2092-2107. doi: 10.1093/cvr/cvaa259. Cardiovasc Res. 2021. PMID: 32898233 Free article.