Alström Syndrome protein ALMS1 localizes to basal bodies of cochlear hair cells and regulates cilium-dependent planar cell polarity

Author:

Jagger Daniel,Collin Gayle,Kelly John,Towers Emily,Nevill Graham,Longo-Guess Chantal,Benson Jennifer,Halsey Karin,Dolan David,Marshall Jan,Naggert Jürgen,Forge Andrew

Publisher

Oxford University Press (OUP)

Subject

Genetics (clinical),Genetics,Molecular Biology,General Medicine

Reference49 articles.

1. Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alstrom syndrome;Collin;Nat. Genet.,2002

2. Mutation of ALMS1, a large gene with a tandem repeat encoding 47 amino acids, causes Alstrom syndrome;Hearn;Nat. Genet.,2002

3. Retinal degeneration combined with obesity, diabetes mellitus and neurogenous deafness: a specific syndrome (not hitherto described) distinct from the Laurence–Moon–Bardet–Biedl syndrome: a clinical, endocrinological and genetic examination based on a large pedigree;Alström;Acta Psychiatr. Neurol. Scand. Suppl.,1959

4. New Alstrom syndrome phenotypes based on the evaluation of 182 cases;Marshall;Arch. Intern. Med.,2005

5. Alstrom syndrome;Marshall;Eur. J. Hum. Genet.,2007

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