Functional effects of KCNJ11 mutations causing neonatal diabetes: enhanced activation by MgATP

By Proks Peter   Girard Christophe   Ashcroft Frances M.  

Human Molecular Genetics, Vol. 14, Iss. 18, 2005-09 ,pp. : 2717-2726

Oxford University Press

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MYH11 mutations result in a distinct vascular pathology driven by insulin-like growth factor1 and angiotensin II

By Pannu Hariyadarshi   Tran-Fadulu Van   Papke Christina L.   Scherer Steve   Liu Yaozhong   Presley Caroline   Guo Dongchuan   Estrera Anthony L.   Safi Hazim J.   Brasier Allan R.   Vick G. Wesley   Marian A.J.   Raman C.S.   Buja L. Maximilian   Milewicz Dianna M.  

Human Molecular Genetics, Vol. 17, Iss. 1, 2008-01 ,pp. : 158-158

Oxford University Press

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Skeletal dysplasias due to filamin A mutations result from a gain-of-function mechanism distinct from allelic neurological disorders

By Clark Alice R.   Sawyer Gregory M.   Robertson Stephen P.   Sutherland-Smith Andrew J.  

Human Molecular Genetics, Vol. 18, Iss. 24, 2009-12 ,pp. : 4791-4800

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Treacher Collins Syndrome may Result from Insertions, Deletions or Splicing Mutations, Which Introduce a Termination Codon into the Gene

By Gladwin Amanda J.   Dixon Jill   Loftus Stacie K.   Edwards Sara   Wasmuth John J.   Hennekam Raoul C. M.   Dixon Michael J.  

Human Molecular Genetics, Vol. 5, Iss. 10, 1996-10 ,pp. : 1533-1538

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Accumulation of Krebs cycle intermediates and over-expression of HIF1α in tumours which result from germline FH and SDH mutations

By Pollard P.J.  

Human Molecular Genetics, Vol. 14, Iss. 15, 2005-08 ,pp. : 2231-2239

Oxford University Press

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