Human Molecular Genetics

ARTICLES:

Martin Brockington, Yeliz Yuva, Paola Prandini, Susan C. Brown, Silvia Torelli, Matthew A. Benson, Ralf Herrmann, Louise V.B. Anderson, Rumaisa Bashir, Jean-Marc Burgunder, Shari Fallet, Norma Romero, Michel Fardeau, Volker Straub, Gillian Storey, Christine Pollitt, Isabelle Richard, Caroline A. Sewry, Kate Bushby, Thomas Voit, Derek J. Blake, and Francesco Muntoni

Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C
Hum. Mol. Genet. 2001 10: 2851-2859; doi:10.1093/hmg/10.25.2851 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Erna Cleiren, Olivier Bénichou, Els Van Hul, Jeppe Gram, Jens Bollerslev, Frederick R. Singer, Katherine Beaverson, Alexander Aledo, Michael P. Whyte, Tatsuo Yoneyama, Marie-Christine deVernejoul, and Wim Van Hul

Albers-Schönberg disease (autosomal dominant osteopetrosis, type II) results from mutations in the ClCN7 chloride channel gene
Hum. Mol. Genet. 2001 10: 2861-2867; doi:10.1093/hmg/10.25.2861 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

REPORTS:

Darrin P. Smith, Sydonia I. Rayter, Christiane Niederlander, James Spicer, C. Mike Jones, and Alan Ashworth

LIP1, a cytoplasmic protein functionally linked to the Peutz-Jeghers syndrome kinase LKB1
Hum. Mol. Genet. 2001 10: 2869-2877; doi:10.1093/hmg/10.25.2869 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Nikola Tilgen, Francesco Zorzato, Birgit Halliger-Keller, Francesco Muntoni, Caroline Sewry, Laura M. Palmucci, Christiane Schneider, Erwin Hauser, Frank Lehmann-Horn, Clemens R. Müller, and Susan Treves

Identification of four novel mutations in the C-terminal membrane spanning domain of the ryanodine receptor 1: association with central core disease and alteration of calcium homeostasis
Hum. Mol. Genet. 2001 10: 2879-2887; doi:10.1093/hmg/10.25.2879 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Mark Nellist, Brenda Verhaaf, Miriam A. Goedbloed, Arnold J.J. Reuser, Ans M.W. van den Ouweland, and Dicky J.J. Halley

TSC2 missense mutations inhibit tuberin phosphorylation and prevent formation of the tuberin–hamartin complex
Hum. Mol. Genet. 2001 10: 2889-2898; doi:10.1093/hmg/10.25.2889 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Angela K. Hodges, Shaowei Li, Julie Maynard, Lee Parry, Richard Braverman, Jeremy P. Cheadle, Jeffrey E. DeClue, and Julian R. Sampson

Pathological mutations in TSC1 and TSC2 disrupt the interaction between hamartin and tuberin
Hum. Mol. Genet. 2001 10: 2899-2905; doi:10.1093/hmg/10.25.2899 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Maria Giovanna Marrosu, Raffaele Murru, Maria Rita Murru, Gianna Costa, Patrizia Zavattari, Michael Whalen, Eleonora Cocco, Cristina Mancosu, Lucia Schirru, Elisabetta Solla, Elisabetta Fadda, Cristina Melis, Ilaria Porru, Marcella Rolesu, and Francesco Cucca

Dissection of the HLA association with multiple sclerosis in the founder isolated population of Sardinia
Hum. Mol. Genet. 2001 10: 2907-2916; doi:10.1093/hmg/10.25.2907 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Melanie Ehrlich, Kent L. Buchanan, Fern Tsien, Guanchao Jiang, Baodong Sun, William Uicker, Corry M.R. Weemaes, Dominique Smeets, Karl Sperling, Bernd H. Belohradsky, Niels Tommerup, David E. Misek, Jean-Marie Rouillard, Rork Kuick, and Samir M. Hanash

DNA methyltransferase 3B mutations linked to the ICF syndrome cause dysregulation of lymphogenesis genes
Hum. Mol. Genet. 2001 10: 2917-2931; doi:10.1093/hmg/10.25.2917 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Sven Cichon, Johannes Schumacher, Daniel J. Müller, Martina Hürter, Christine Windemuth, Konstantin Strauch, Susanne Hemmer, Thomas G. Schulze, Gabriele Schmidt-Wolf, Margot Albus, Margitta Borrmann-Hassenbach, Ernst Franzek, Mario Lanczik, Jürgen Fritze, Roland Kreiner, Ulrike Reuner, Bettina Weigelt, Jürgen Minges, Dirk Lichtermann, Bernhard Lerer, Kyra Kanyas, Max P. Baur, Thomas F. Wienker, Wolfgang Maier, Marcella Rietschel, Peter Propping, and Markus M. Nöthen

A genome screen for genes predisposing to bipolar affective disorder detects a new susceptibility locus on 8q
Hum. Mol. Genet. 2001 10: 2933-2944; doi:10.1093/hmg/10.25.2933 [Abstract] [FREE Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Xue Zhong Liu, Xia Juan Xia, Joe Adams, Zheng Yi Chen, Katherine O. Welch, Mustafa Tekin, Xiao Mei Ouyang, Arther Kristiansen, Arti Pandya, Thomas Balkany, Kathleen S. Arnos, and Walter E. Nance

Mutations in GJA1 (connexin 43) are associated with non-syndromic autosomal recessive deafness
Hum. Mol. Genet. 2001 10: 2945-2951; doi:10.1093/hmg/10.25.2945 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Jun Zhang, Richard E. Clatterbuck, Daniele Rigamonti, David D. Chang, and Harry C. Dietz

Interaction between krit1 and icap1 infers perturbation of integrin ß1-mediated angiogenesis in the pathogenesis of cerebral cavernous malformation
Hum. Mol. Genet. 2001 10: 2953-2960; doi:10.1093/hmg/10.25.2953 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

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