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Mutations in SCARF2 are responsible for Van Den Ende-Gupta syndrome.
Anastasio N, Ben-Omran T, Teebi A, Ha KC, Lalonde E, Ali R, Almureikhi M, Der Kaloustian VM, Liu J, Rosenblatt DS, Majewski J, Jerome-Majewska LA. Anastasio N, et al. Among authors: ha kc. Am J Hum Genet. 2010 Oct 8;87(4):553-9. doi: 10.1016/j.ajhg.2010.09.005. Am J Hum Genet. 2010. PMID: 20887961 Free PMC article.
ARHGDIA: a novel gene implicated in nephrotic syndrome.
Gupta IR, Baldwin C, Auguste D, Ha KC, El Andalousi J, Fahiminiya S, Bitzan M, Bernard C, Akbari MR, Narod SA, Rosenblatt DS, Majewski J, Takano T. Gupta IR, et al. Among authors: ha kc. J Med Genet. 2013 May;50(5):330-8. doi: 10.1136/jmedgenet-2012-101442. Epub 2013 Feb 22. J Med Genet. 2013. PMID: 23434736 Free PMC article.
An atlas of alternative splicing profiles and functional associations reveals new regulatory programs and genes that simultaneously express multiple major isoforms.
Tapial J, Ha KCH, Sterne-Weiler T, Gohr A, Braunschweig U, Hermoso-Pulido A, Quesnel-Vallières M, Permanyer J, Sodaei R, Marquez Y, Cozzuto L, Wang X, Gómez-Velázquez M, Rayon T, Manzanares M, Ponomarenko J, Blencowe BJ, Irimia M. Tapial J, et al. Genome Res. 2017 Oct;27(10):1759-1768. doi: 10.1101/gr.220962.117. Epub 2017 Aug 30. Genome Res. 2017. PMID: 28855263 Free PMC article.
Multilayered Control of Alternative Splicing Regulatory Networks by Transcription Factors.
Han H, Braunschweig U, Gonatopoulos-Pournatzis T, Weatheritt RJ, Hirsch CL, Ha KCH, Radovani E, Nabeel-Shah S, Sterne-Weiler T, Wang J, O'Hanlon D, Pan Q, Ray D, Zheng H, Vizeacoumar F, Datti A, Magomedova L, Cummins CL, Hughes TR, Greenblatt JF, Wrana JL, Moffat J, Blencowe BJ. Han H, et al. Mol Cell. 2017 Feb 2;65(3):539-553.e7. doi: 10.1016/j.molcel.2017.01.011. Mol Cell. 2017. PMID: 28157508 Free article.
82 results