Interaction of retinitis pigmentosa GTPase regulator (RPGR) with RAB8A GTPase: implications for cilia dysfunction and photoreceptor degeneration

By Murga-Zamalloa Carlos A.   Atkins Stephen J.   Peranen Johan   Swaroop Anand   Khanna Hemant  

Human Molecular Genetics, Vol. 19, Iss. 18, 2010-09 ,pp. : 3591-3598

Oxford University Press

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RPGR ORF15 isoform co-localizes with RPGRIP1 at centrioles and basal bodies and interacts with nucleophosmin

By Shu X.  

Human Molecular Genetics, Vol. 14, Iss. 9, 2005-05 ,pp. : 1183-1197

Oxford University Press

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Mouse Choroideremia Gene Mutation Causes Photoreceptor Cell Degeneration and is not Transmitted through the Female Germline

By van den Hurk José A. J. M.  

Human Molecular Genetics, Vol. 6, Iss. 6, 1997-01 ,pp. : 851-858

Oxford University Press

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Loss-of-function point mutations associated with renal tubular dysgenesis provide insights about renin function and cellular trafficking

By Michaud Annie   Bur Daniel   Gribouval Olivier   Muller Laurent   Iturrioz Xavier   Clemessy Maud   Gasc Jean-Marie   Gubler Marie-Claire   Corvol Pierre  

Human Molecular Genetics, Vol. 20, Iss. 2, 2011-01 ,pp. : 301-311

Oxford University Press

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Matriptase-2 mutations in iron-refractory iron deficiency anemia patients provide new insights into protease activation mechanisms

By Ramsay Andrew J.   Quesada Victor   Sanchez Mayka   Garabaya Cecilia   Sard Mara P.   Baiget Montserrat   Remacha Angel   Velasco Gloria   Lpez-Otn Carlos  

Human Molecular Genetics, Vol. 18, Iss. 19, 2009-10 ,pp. : 3673-3683

Oxford University Press

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