The NanceHoran syndrome protein encodes a functional WAVE homology domain (WHD) and is important for co-ordinating actin remodelling and maintaining cell morphology

By Brooks Simon P.   Coccia Margherita   Tang Hao R.   Kanuga Naheed   Machesky Laura M.   Bailly Maryse   Cheetham Michael E.   Hardcastle Alison J.  

Human Molecular Genetics, Vol. 19, Iss. 12, 2010-06 ,pp. : 2421-2432

Oxford University Press

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Xcat, a novel mouse model for Nance–Horan syndrome inhibits expression of the cytoplasmic-targeted Nhs1 isoform

By Huang Kristen M.   Wu Junhua   Duncan Melinda K.   Moy Chris   Dutra Amalia   Favor Jack   Da Tong   Stambolian Dwight  

Human Molecular Genetics, Vol. 15, Iss. 2, 2006-01 ,pp. : 319-327

Oxford University Press

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X-linked cataract and Nance-Horan syndrome are allelic disorders

By Coccia Margherita   Brooks Simon P.   Webb Tom R.   Christodoulou Katja   Wozniak Izabella O.   Murday Victoria   Balicki Martha   Yee Harris A.   Wangensteen Teresia   Riise Ruth   Saggar Anand K.   Park Soo-Mi   Kanuga Naheed   Francis Peter J.   Maher Eamonn R.   Moore Anthony T.   Russell-Eggitt Isabelle M.   Hardcastle Alison J.  

Human Molecular Genetics, Vol. 18, Iss. 14, 2009-07 ,pp. : 2643-2655

Oxford University Press

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Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin

By Weil Dominique  

Human Molecular Genetics, Vol. 12, Iss. 5, 2003-03 ,pp. : 463-471

Oxford University Press

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Anhidrotic Ectodermal Dysplasia (EDA) Protein Expressed in MCF-7 Cells Associates with Cell Membrane and Induces Rounding

By Ezer Sini   Schlessinger David   Srivastava Anand   Kere Juha  

Human Molecular Genetics, Vol. 6, Iss. 9, 1997-01 ,pp. : 1581-1587

Oxford University Press

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