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Molecular Biology of Disease
Results 211 - 220 of 251 shown below
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Myosin VIIa, harmonin and cadherin 23, three Usher I gene products that cooperate to shape the sensory hair cell bundle
Batiste Boëda, Aziz El-Amraoui, Amel Bahloul, Richard Goodyear, Laurent Daviet, Stéphane Blanchard, Isabelle Perfettini, Karl R. Fath, Spencer Shorte, Jan Reiners, Anne Houdusse, Pierre Legrain, Uwe Wolfrum, Guy Richardson & Christine Petit
The EMBO Journal (2002) 21, 24, 6689–6699, doi:10.1093/emboj/cdf689
Abstract | Full Text | PDF
BSE prions propagate as either variant CJD-like or sporadic CJD-like prion strains in transgenic mice expressing human prion protein
Emmanuel A. Asante, Jacqueline M. Linehan, Melanie Desbruslais, Susan Joiner, Ian Gowland, Andrew L. Wood, Julie Welch, Andrew F. Hill, Sarah E. Lloyd, Jonathan D.F. Wadsworth & John Collinge
The EMBO Journal (2002) 21, 23, 6358–6366, doi:10.1093/emboj/cdf653
Abstract | Full Text | PDF
The neurodegeneration mutant löchrig interferes with cholesterol homeostasis and Appl processing
Jakob-Andreas Tschäpe, Christine Hammerschmied, Max Mühlig-Versen, Karin Athenstaedt, Günther Daum & Doris Kretzschmar
The EMBO Journal (2002) 21, 23, 6367–6376, doi:10.1093/emboj/cdf636
Abstract | Full Text | PDF
Taurine as a constituent of mitochondrial tRNAs: new insights into the functions of taurine and human mitochondrial diseases
Takeo Suzuki, Tsutomu Suzuki, Takeshi Wada, Kazuhiko Saigo & Kimitsuna Watanabe
The EMBO Journal (2002) 21, 23, 6581–6589, doi:10.1093/emboj/cdf656
Abstract | Full Text | PDF
Altered aggregation properties of mutant gamma-crystallins cause inherited cataract
Aileen Sandilands, Aileen M. Hutcheson, Heather A. Long, Alan R. Prescott, Gijs Vrensen, Jana Löster, Norman Klopp, Raimund B. Lutz, Jochen Graw, Shigeo Masaki, Christopher M. Dobson, Cait E. MacPhee & Roy A. Quinlan
The EMBO Journal (2002) 21, 22, 6005–6014, doi:10.1093/emboj/cdf609
Abstract | Full Text | PDF
A molecular mechanism for aberrantCFTR-dependent HCO3- transport in cystic fibrosis
Shigeru B.H. Ko, Nikolay Shcheynikov, Joo Young Choi, Xiang Luo, Kenichi Ishibashi, Philip J. Thomas, Joo Young Kim, Kyung Hwan Kim, Min Goo Lee, Satoru Naruse & Shmuel Muallem
The EMBO Journal (2002) 21, 21, 5662–5672, doi:10.1093/emboj/cdf580
Abstract | Full Text | PDF
The behaviour of polyamino acids reveals an inverse side chain effect in amyloid structure formation
Marcus Fändrich & Christopher M. Dobson
The EMBO Journal (2002) 21, 21, 5682–5690, doi:10.1093/emboj/cdf573
Abstract | Full Text | PDF
The cytoplasmic domain of the LDL receptor-related protein regulates multiple steps in APP processing
Claus U. Pietrzik, Tracy Busse, David E. Merriam, Sascha Weggen & Edward H. Koo
The EMBO Journal (2002) 21, 21, 5691–5700, doi:10.1093/emboj/cdf568
Abstract | Full Text | PDF
The Src family kinase Hck couples BCR/ABL to STAT5 activation in myeloid leukemia cells
Agata Klejman, Steven J. Schreiner, Malgorzata Nieborowska-Skorska, Artur Slupianek, Matthew Wilson, Thomas E. Smithgall & Tomasz Skorski
The EMBO Journal (2002) 21, 21, 5766–5774, doi:10.1093/emboj/cdf562
Abstract | Full Text | PDF
The imprinting mechanism of the Prader–Willi/Angelman regional control center
Jonathan Perk, Kirill Makedonski, Laura Lande, Howard Cedar, Aharon Razin & Ruth Shemer
The EMBO Journal (2002) 21, 21, 5807–5814, doi:10.1093/emboj/cdf570
Abstract | Full Text | PDF
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