Human Molecular Genetics

ARTICLES:

Julie A. Schneider, Timothy E. A. Peto, Reginald A. Boone, Anthony J. Boyce, and John B. Clegg

Direct measurement of the male recombination fraction in the human ß-globin hot spot
Hum. Mol. Genet. 2002 11: 207-215; doi:10.1093/hmg/11.3.207 [Abstract] [FREE Full Text] [PDF] [Supplementary data] [Request Permissions]  

Patrizia Cavadini, Heather A. O’Neill, Oldrich Benada, and Grazia Isaya

Assembly and iron-binding properties of human frataxin, the protein deficient in Friedreich ataxia
Hum. Mol. Genet. 2002 11: 217-227; doi:10.1093/hmg/11.3.217 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

A. Persu, M. S. Stoenoiu, T. Messiaen, S. Davila, C. Robino, O. El-Khattabi, M. Mourad, S. Horie, O. Feron, J. -L. Balligand, R. Wattiez, Y. Pirson, D. Chauveau, X. M. Lens, and O. Devuyst

Modifier effect of ENOS in autosomal dominant polycystic kidney disease
Hum. Mol. Genet. 2002 11: 229-241; doi:10.1093/hmg/11.3.229 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Paul Dickinson, Stephen N. Smith, Sheila Webb, Fiona M. Kilanowski, Isla J. Campbell, Martin S. Taylor, David J. Porteous, Rob Willemsen, Hugo R. de Jonge, Ray Farley, Eric W. F. W. Alton, and Julia R. Dorin

The severe G480C cystic fibrosis mutation, when replicated in the mouse, demonstrates mistrafficking, normal survival and organ-specific bioelectrics
Hum. Mol. Genet. 2002 11: 243-251; doi:10.1093/hmg/11.3.243 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Nathalie G. Bérubé, Magdalena Jagla, Cecelia Smeenk, Yves De Repentigny, Rashmi Kothary, and David J. Picketts

Neurodevelopmental defects resulting from ATRX overexpression in transgenic mice
Hum. Mol. Genet. 2002 11: 253-261; doi:10.1093/hmg/11.3.253 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

John D. Porter, Sangeeta Khanna, Henry J. Kaminski, J. Sunil Rao, Anita P. Merriam, Chelliah R. Richmonds, Patrick Leahy, Jingjin Li, Wei Guo, and Francisco H. Andrade

A chronic inflammatory response dominates the skeletal muscle molecular signature in dystrophin-deficient mdx mice
Hum. Mol. Genet. 2002 11: 263-272; doi:10.1093/hmg/11.3.263 [Abstract] [FREE Full Text] [PDF] [Supplementary data] [Request Permissions]  

Mireille Koomen, Ngan C. Cheng, Henri J. van de Vrugt, Barbara C. Godthelp, Martin A. van der Valk, Anneke B. Oostra, Malgorzata Z. Zdzienicka, Hans Joenje, and Fré Arwert

Reduced fertility and hypersensitivity to mitomycin C characterize Fancg/Xrcc9 null mice
Hum. Mol. Genet. 2002 11: 273-281; doi:10.1093/hmg/11.3.273 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Juan Pedro Martinez Barbera, Tristan A. Rodriguez, Nicholas D. E. Greene, Wolfgang J. Weninger, Antonio Simeone, Andrew J. Copp, Rosa S. P. Beddington, and Sally Dunwoodie

Folic acid prevents exencephaly in Cited2 deficient mice
Hum. Mol. Genet. 2002 11: 283-293; doi:10.1093/hmg/11.3.283 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Emilia Vitale, Stuart Cook, Rong Sun, Claudia Specchia, Kavitha Subramanian, Mariano Rocchi, Douglas Nathanson, Marvin Schwalb, Marcella Devoto, and Christine Rohowsky-Kochan

Linkage analysis conditional on HLA status in a large North American pedigree supports the presence of a multiple sclerosis susceptibility locus on chromosome 12p12
Hum. Mol. Genet. 2002 11: 295-300; doi:10.1093/hmg/11.3.295 [Abstract] [FREE Full Text] [PDF] [Supplementary data] [Request Permissions]  

Pulak R. Manna, Lata Joshi, Vernon N. Reinhold, Michel L. Aubert, Nobuhiko Suganuma, Kim Pettersson, and Ilpo T. Huhtaniemi

Synthesis, purification and structural and functional characterization of recombinant form of a common genetic variant of human luteinizing hormone
Hum. Mol. Genet. 2002 11: 301-315; doi:10.1093/hmg/11.3.301 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Olli A. Kajander, Pekka J. Karhunen, and Howard T. Jacobs

The relationship between somatic mtDNA rearrangements, human heart disease and aging
Hum. Mol. Genet. 2002 11: 317-324; doi:10.1093/hmg/11.3.317 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Susanna Eketjäll and Carlos F. Ibáñez

Functional characterization of mutations in the GDNF gene of patients with Hirschsprung disease
Hum. Mol. Genet. 2002 11: 325-329; doi:10.1093/hmg/11.3.325 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Katja S. Brocke, Gabriele Neu-Yilik, Niels H. Gehring, Matthias W. Hentze, and Andreas E. Kulozik

The human intronless melanocortin 4-receptor gene is NMD insensitive
Hum. Mol. Genet. 2002 11: 331-335; doi:10.1093/hmg/11.3.331 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Matteo Vatta, Robert Dumaine, George Varghese, Todd A. Richard, Wataru Shimizu, Naohiko Aihara, Koonlawee Nademanee, Ramon Brugada, Josep Brugada, Gumpanart Veerakul, Hua Li, Neil E. Bowles, Pedro Brugada, Charles Antzelevitch, and Jeffrey A. Towbin

Genetic and biophysical basis of sudden unexplained nocturnal death syndrome (SUNDS), a disease allelic to Brugada syndrome
Hum. Mol. Genet. 2002 11: 337-345; doi:10.1093/hmg/11.3.337 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

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