TMEM237 Is Mutated in Individuals with a Joubert Syndrome Related Disorder and Expands the Role of the TMEM Family at the Ciliary Transition Zone

Author:

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.

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference69 articles.

1. Joubert Syndrome and related disorders;Brancati;Orphanet J. Rare Dis.,2010

2. Making sense of cilia in disease: The human ciliopathies;Baker;Am. J. Med. Genet. C. Semin. Med. Genet.,2009

3. Ciliary dysfunction in developmental abnormalities and diseases;Sharma;Curr. Top. Dev. Biol.,2008

4. Cilia in the nervous system: Linking cilia function and neurodevelopmental disorders;Lee;Curr. Opin. Neurol.,2011

5. Ciliary biology: Understanding the cellular and genetic basis of human ciliopathies;Cardenas-Rodriguez;Am. J. Med. Genet. C. Semin. Med. Genet.,2009

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