Human Molecular Genetics

ARTICLES:

Mariona Font, Lídia Feliubadaló, Xavier Estivill, Virginia Nunes, Eliahu Golomb, Yitshak Kreiss, Elon Pras, Luigi Bisceglia, Adamo P. d’Adamo, Leopoldo Zelante, Paolo Gasparini, Maria Teresa Bassi, Alfred L. George, Jr, Marta Manzoni, Mirko Riboni, Andrea Ballabio, Giuseppe Borsani, Núria Reig, Esperanza Fernández, Antonio Zorzano, Joan Bertran, and Manuel Palacín

Functional analysis of mutations in SLC7A9, and genotype–phenotype correlation in non-Type I cystinuria
Hum. Mol. Genet. 2001 10: 305-316; doi:10.1093/hmg/10.4.305 [Abstract] [FREE Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Mark A. Corbett, C. Stephen Robinson, Greta F. Dunglison, Nan Yang, Josephine E. Joya, Angus W. Stewart, Christina Schnell, Peter W. Gunning, Kathryn N. North, and Edna C. Hardeman

A mutation in -tropomyosin_slow affects muscle strength, maturation and hypertrophy in a mouse model for nemaline myopathy
Hum. Mol. Genet. 2001 10: 317-328; doi:10.1093/hmg/10.4.317 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Bernhard Laggerbauer, Dirk Ostareck, Eva-Maria Keidel, Antje Ostareck-Lederer, and Utz Fischer

Evidence that fragile X mental retardation protein is a negative regulator of translation
Hum. Mol. Genet. 2001 10: 329-338; doi:10.1093/hmg/10.4.329 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Rachael J. Daniels, John F. Peden, Christine Lloyd, Sharon W. Horsley, Kevin Clark, Cristina Tufarelli, Lyndal Kearney, Veronica J. Buckle, Norman A. Doggett, Jonathan Flint, and Douglas R. Higgs

Sequence, structure and pathology of the fully annotated terminal 2 Mb of the short arm of human chromosome 16
Hum. Mol. Genet. 2001 10: 339-352; doi:10.1093/hmg/10.4.339 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

REPORTS:

Johan Vallon-Christersson, Charmagne Cayanan, Karin Haraldsson, Niklas Loman, Jon Thor Bergthorsson, Karen Brøndum-Nielsen, Anne-Marie Gerdes, Pål Møller, Ulf Kristoffersson, Håkan Olsson, Åke Borg, and Alvaro N.A. Monteiro

Functional analysis of BRCA1 C-terminal missense mutations identified in breast and ovarian cancer families
Hum. Mol. Genet. 2001 10: 353-360; doi:10.1093/hmg/10.4.353 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Sharon La Fontaine, Michael B. Theophilos, Stephen D. Firth, Robert Gould, Robert G. Parton, and Julian F.B. Mercer

Effect of the toxic milk mutation (tx) on the function and intracellular localization of Wnd, the murine homologue of the Wilson copper ATPase
Hum. Mol. Genet. 2001 10: 361-370; doi:10.1093/hmg/10.4.361 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Jonathan Flint, Cristina Tufarelli, John Peden, Kevin Clark, Rachael J. Daniels, Ross Hardison, Webb Miller, Sjaak Philipsen, Kian Chen Tan-Un, Tara McMorrow, Jonathan Frampton, Blanche P. Alter, Anna-Marie Frischauf, and Douglas R. Higgs

Comparative genome analysis delimits a chromosomal domain and identifies key regulatory elements in the  globin cluster
Hum. Mol. Genet. 2001 10: 371-382; doi:10.1093/hmg/10.4.371 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Makiko Meguro, Kohzoh Mitsuya, Nobuo Nomura, Masakazu Kohda, Akiko Kashiwagi, Ryuichi Nishigaki, Hirotaka Yoshioka, Mitsuyoshi Nakao, Michio Oishi, and Mitsuo Oshimura

Large-scale evaluation of imprinting status in the Prader–Willi syndrome region: an imprinted direct repeat cluster resembling small nucleolar RNA genes
Hum. Mol. Genet. 2001 10: 383-394; doi:10.1093/hmg/10.4.383 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Ioannis Panagopoulos, Thoas Fioretos, Margareth Isaksson, Ulf Samuelsson, Rolf Billström, Bodil Strömbeck, Felix Mitelman, and Bertil Johansson

Fusion of the MORF and CBP genes in acute myeloid leukemia with the t(10;16)(q22;p13)
Hum. Mol. Genet. 2001 10: 395-404; doi:10.1093/hmg/10.4.395 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Jennifer J.D. Morrissette, Raymond P. Colliton, and Nancy B. Spinner

Defective intracellular transport and processing of JAG1 missense mutations in Alagille syndrome
Hum. Mol. Genet. 2001 10: 405-413; doi:10.1093/hmg/10.4.405 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Angèle Guilbot, Anna Williams, Nicole Ravisé, Christophe Verny, Alexis Brice, Diane L. Sherman, Peter J. Brophy, Eric LeGuern, Valérie Delague, Corinne Bareil, André Mégarbané, and Mireille Claustres

A mutation in periaxin is responsible for CMT4F, an autosomal recessive form of Charcot–Marie–Tooth disease
Hum. Mol. Genet. 2001 10: 415-421; doi:10.1093/hmg/10.4.415 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Annette L. Medhurst, Pia A.J. Huber, Quinten Waisfisz, Johan P. de Winter, and Christopher G. Mathew

Direct interactions of the five known Fanconi anaemia proteins suggest a common functional pathway
Hum. Mol. Genet. 2001 10: 423-429; doi:10.1093/hmg/10.4.423 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

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