Ahi1, whose human ortholog is mutated in Joubert syndrome, is required for Rab8a localization, ciliogenesis and vesicle trafficking

By Hsiao Yi-Chun   Tong Zachary J.   Westfall Jennifer E.   Ault Jeffrey G.   Page-McCaw Patrick S.   Ferland Russell J.  

Human Molecular Genetics, Vol. 18, Iss. 20, 2009-10 ,pp. : 3926-3941

Oxford University Press

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Fras1, a basement membrane-associated protein mutated in Fraser syndrome, mediates both the initiation of the mammalian kidney and the integrity of renal glomeruli

By Pitera Jolanta E.   Scambler Peter J.   Woolf Adrian S.  

Human Molecular Genetics, Vol. 17, Iss. 24, 2008-12 ,pp. : 3953-3964

Oxford University Press

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HspB8, a small heat shock protein mutated in human neuromuscular disorders, has in vivo chaperone activity in cultured cells

By Carra Serena   Sivilotti Mitchel   Chávez Zobel Aura T.   Lambert Herman   Landry Jacques  

Human Molecular Genetics, Vol. 14, Iss. 12, 2005-06 ,pp. : 1659-1669

Oxford University Press

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CHD8 interacts with CHD7, a protein which is mutated in CHARGE syndrome

By Batsukh Tserendulam   Pieper Lasse   Koszucka Anna M.   von Velsen Nina   Hoyer-Fender Sigrid   Elbracht Miriam   Bergman Jorieke E.H.   Hoefsloot Lies H.   Pauli Silke  

Human Molecular Genetics, Vol. 19, Iss. 14, 2010-07 ,pp. : 2858-2866

Oxford University Press

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Myotubularin-related 2 protein phosphatase and neurofilament light chain protein, both mutated in CMT neuropathies, interact in peripheral nerve

By Ravazzolo R.  

Human Molecular Genetics, Vol. 12, Iss. 14, 2003-07 ,pp. : 1713-1723

Oxford University Press

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