Article
TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone.
American journal of human genetics - 9 Dec 2011
Huang Lijia, Szymanska Katarzyna, Jensen Victor L, Janecke Andreas R, Innes A Micheil, Davis Erica E, Frosk Patrick, Li Chunmei, Willer Jason R, Chodirker Bernard N, Greenberg Cheryl R, McLeod D Ross, Bernier Francois P, Chudley Albert E, Müller Thomas, Shboul Mohammad, Logan Clare V, Loucks Catrina M, Beaulieu Chandree L, Bowie Rachel V, Bell Sandra M, Adkins Jonathan, Zuniga Freddi I, Ross Kevin D, Wang Jian, Ban Matthew R, Becker Christian, Nürnberg Peter, Douglas Stuart, Craft Cheryl M, Akimenko Marie-Andree, Hegele Robert A, Ober Carole, Utermann Gerd, Bolz Hanno J, Bulman Dennis E, Katsanis Nicholas, Blacque Oliver E, Doherty Dan, Parboosingh Jillian S, Leroux Michel R, Johnson Colin A, Boycott Kym M
Abstract excerpt
Joubert syndrome related disorders (JSRDs) have broad but variable phenotypic overlap with other ciliopathies. The molecular etiology of this overlap is unclear but probably arises from disrupting common functional module components within primary cilia. To identify additional module elements associated with JSRDs, we performed homozygosity mapping followed by next-generation sequencing (NGS) and uncovered...
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