Article
Mutations in Subunits of the Activating Signal Cointegrator 1 Complex Are Associated with Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures.
American journal of human genetics - 3 Mar 2016
Knierim Ellen, Hirata Hiromi, Wolf Nicole I, Morales-Gonzalez Susanne, Schottmann Gudrun, Tanaka Yu, Rudnik-Schöneborn Sabine, Orgeur Mickael, Zerres Klaus, Vogt Stefanie, van Riesen Anne, Gill Esther, Seifert Franziska, Zwirner Angelika, Kirschner Janbernd, Goebel Hans Hilmar, Hübner Christoph, Stricker Sigmar, Meierhofer David, Stenzel Werner, Schuelke Markus
Abstract excerpt
Transcriptional signal cointegrators associate with transcription factors or nuclear receptors and coregulate tissue-specific gene transcription. We report on recessive loss-of-function mutations in two genes (TRIP4 and ASCC1) that encode subunits of the nuclear activating signal cointegrator 1 (ASC-1) complex. We used autozygosity mapping and whole-exome sequencing to search for pathogenic mutations in four...
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