Disease-associated mutations affect GPR56 protein trafficking and cell surface expression

By Jin Zhaohui   Tietjen Ian   Bu Lihong   Liu-Yesucevitz Liqun   Gaur Shantanu K.   Walsh Christopher A.   Piao Xianhua  

Human Molecular Genetics, Vol. 16, Iss. 16, 2007-08 ,pp. : 1972-1985

Oxford University Press

Access to resources Recommend Favorite

Defective trafficking and cell death is characteristic of skin disease-associated connexin 31 mutations

By Kelsell D.P.  

Human Molecular Genetics, Vol. 11, Iss. 17, 2002-06 ,pp. : 2005-2014

Oxford University Press

Access to resources Recommend Favorite

Disease-associated mutations in TUBA1A result in a spectrum of defects in the tubulin folding and heterodimer assembly pathway

By Tian Guoling   Jaglin Xavier H.   Keays David A.   Francis Fiona   Chelly Jamel   Cowan Nicholas J.  

Human Molecular Genetics, Vol. 19, Iss. 18, 2010-09 ,pp. : 3599-3613

Oxford University Press

Access to resources Recommend Favorite

C-terminal truncation and Parkinson's disease-associated mutations down-regulate the protein serine/threonine kinase activity of PTEN-induced kinase-1

By Sim Chou Hung   Lio Daisy Sio Seng   Mok Su San   Masters Colin L.   Hill Andrew F.   Culvenor Janetta G.   Cheng Heung-Chin  

Human Molecular Genetics, Vol. 15, Iss. 21, 2006-11 ,pp. : 3251-3262

Oxford University Press

Access to resources Recommend Favorite

Evolution of Crohn’s disease-associated Nod2 mutations

By Gasche Christoph   Nemeth Manuela   Grundtner Paul   Willheim-Polli Claudia   Ferenci Peter   Schwarzenbacher Robert  

Immunogenetics, Vol. 60, Iss. 2, 2008-02 ,pp. : 115-120

Springer Publishing Company

Access to resources Recommend Favorite