Heteroligomerization of an Aquaporin-2 mutant with wild-type Aquaporin-2 and their misrouting to late endosomes/lysosomes explains dominant nephrogenic diabetes insipidus

By Oksche A.  

Human Molecular Genetics, Vol. 11, Iss. 7, 2002-04 ,pp. : 779-789

Oxford University Press

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Functional polymorphisms, altered gene expression and genetic association link NRH:quinone oxidoreductase 2 to breast cancer with wild-type p53

By Yu Ke-Da   Di Gen-Hong   Yuan Wen-Tao   Fan Lei   Wu Jiong   Hu Zhen   Shen Zhen-Zhou   Zheng Ying   Huang Wei   Shao Zhi-Ming  

Human Molecular Genetics, Vol. 18, Iss. 13, 2009-07 ,pp. : 2502-2517

Oxford University Press

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X-Chromosome inactivation ratios affect wild-type MeCP2 expression within mosaic Rett syndrome and Mecp2 −/+ mouse brain

By Braunschweig Daniel   Simcox Thomas   Samaco Rodney C.   LaSalle Janine M.  

Human Molecular Genetics, Vol. 13, Iss. 12, 2004-06 ,pp. : 1275-1286

Oxford University Press

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The CMT4B disease-causing phosphatases Mtmr2 and Mtmr13 localize to the Schwann cell cytoplasm and endomembrane compartments, where they depend upon each other to achieve wild-type levels of protein expression

By Ng Aubree A.   Logan Anne M.   Schmidt Eric J.   Robinson Fred L.  

Human Molecular Genetics, Vol. 22, Iss. 8, 2013-04 ,pp. : 1493-1506

Oxford University Press

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A Single Copy of Carbonic anhydrase 2 Restores Wild-type Circadian Period to Carbonic Anhydrase II-Deficient Mice

By Kernek Kari   Trofatter James   Mayeda Aimee   Lahiri Debomoy   Hofstetter John  

Behavior Genetics, Vol. 36, Iss. 2, 2006-03 ,pp. : 301-308

Springer Publishing Company

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