The Nek8 protein kinase, mutated in the human cystic kidney disease nephronophthisis, is both activated and degraded during ciliogenesis

By Zalli Detina   Bayliss Richard   Fry Andrew M.  

Human Molecular Genetics, Vol. 21, Iss. 5, 2012-03 ,pp. : 1155-1171

Oxford University Press

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CRB1 is essential for external limiting membrane integrity and photoreceptor morphogenesis in the mammalian retina

By Mehalow Adrienne K.  

Human Molecular Genetics, Vol. 12, Iss. 17, 2003-09 ,pp. : 2179-2189

Oxford University Press

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Cloning of Tabby , the Murine Homolog of the Human EDA Gene: Evidence for a Membrane-Associated Protein with a Short Collagenous Domain

By Ferguson Betsy M.   Brockdorff Neil   Formstone Emma   Ngyuen Tung   Kronmiller Jan E.   Zonana Jonathan  

Human Molecular Genetics, Vol. 6, Iss. 9, 1997-01 ,pp. : 1589-1594

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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