Human Molecular Genetics

ARTICLES:

Heli Putaala, Raija Soininen, Pekka Kilpeläinen, Jorma Wartiovaara, and Karl Tryggvason

The murine nephrin gene is specifically expressed in kidney, brain and pancreas: inactivation of the gene leads to massive proteinuria and neonatal death
Hum. Mol. Genet. 2001 10: 1-8; doi:10.1093/hmg/10.1.1 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Gonzalo Blanco, Gary R. Coulton, Andrew Biggin, Christopher Grainge, Jill Moss, Michael Barrett, Anne Berquin, Georges Maréchal, Michael Skynner, Peter van Mier, Athena Nikitopoulou, Manfred Kraus, Chris P. Ponting, Roger M. Mason, and Steve D.M. Brown

The kyphoscoliosis (ky) mouse is deficient in hypertrophic responses and is caused by a mutation in a novel muscle-specific protein
Hum. Mol. Genet. 2001 10: 9-16; doi:10.1093/hmg/10.1.9 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

REPORTS:

Natalya D. Bodyak, Ekaterina Nekhaeva, Jeanne Y. Wei, and Konstantin Khrapko

Quantification and sequencing of somatic deleted mtDNA in single cells: evidence for partially duplicated mtDNA in aged human tissues
Hum. Mol. Genet. 2001 10: 17-24; doi:10.1093/hmg/10.1.17 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Shinji Yue, Heliane G. Serra, Huda Y. Zoghbi, and Harry T. Orr

The spinocerebellar ataxia type 1 protein, ataxin-1, has RNA-binding activity that is inversely affected by the length of its polyglutamine tract
Hum. Mol. Genet. 2001 10: 25-30; doi:10.1093/hmg/10.1.25 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Marine Prissette, Osman El-Maarri, Danielle Arnaud, Jörn Walter, and Philip Avner

Methylation profiles of DXPas34 during the onset of X-inactivation
Hum. Mol. Genet. 2001 10: 31-38; doi:10.1093/hmg/10.1.31 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Paul Q. Thomas, Mehul T. Dattani, Joshua M. Brickman, David McNay, Garry Warne, Margaret Zacharin, Fergus Cameron, Jane Hurst, Katie Woods, David Dunger, Richard Stanhope, Susan Forrest, Iain C.A.F. Robinson, and Rosa S.P. Beddington

Heterozygous HESX1 mutations associated with isolated congenital pituitary hypoplasia and septo-optic dysplasia
Hum. Mol. Genet. 2001 10: 39-45; doi:10.1093/hmg/10.1.39 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Richard J. Newbold, Evelyne C. Deery, Caroline E. Walker, Susan E. Wilkie, Narayanaswamy Srinivasan, David M. Hunt, Shomi S. Bhattacharya, and Martin J. Warren

The destabilization of human GCAP1 by a proline to leucine mutation might cause cone-rod dystrophy
Hum. Mol. Genet. 2001 10: 47-54; doi:10.1093/hmg/10.1.47 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Juliette A. Randerson-Moor, Mark Harland, Sarah Williams, Darren Cuthbert-Heavens, Eamonn Sheridan, Joanne Aveyard, Kathryn Sibley, Linda Whitaker, Margaret Knowles, Julia Newton Bishop, and D. Timothy Bishop

A germline deletion of p14^ARF but not CDKN2A in a melanoma–neural system tumour syndrome family
Hum. Mol. Genet. 2001 10: 55-62; doi:10.1093/hmg/10.1.55 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Jörg Klepper, Michèl Willemsen, Aad Verrips, Elena Guertsen, Ralf Herrmann, Christian Kutzick, Anne Flörcken, and Thomas Voit

Autosomal dominant transmission of GLUT1 deficiency
Hum. Mol. Genet. 2001 10: 63-68; doi:10.1093/hmg/10.1.63 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Maarit Lehtovirta, Aija Kyttälä, Eeva-Liisa Eskelinen, Michael Hess, Outi Heinonen, and Anu Jalanko

Palmitoyl protein thioesterase (PPT) localizes into synaptosomes and synaptic vesicles in neurons: implications for infantile neuronal ceroid lipofuscinosis (INCL)
Hum. Mol. Genet. 2001 10: 69-75; doi:10.1093/hmg/10.1.69 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Ralf Sudbrak, Georg Wieczorek, Ulrike A. Nuber, Wolfgang Mann, Roland Kirchner, Fikret Erdogan, Carolyn J. Brown, Doris Wöhrle, Peter Sterk, Vera M. Kalscheuer, Wolfgang Berger, Hans Lehrach, and Hans-Hilger Ropers

X chromosome-specific cDNA arrays: identification of genes that escape from X-inactivation and other applications
Hum. Mol. Genet. 2001 10: 77-83; doi:10.1093/hmg/10.1.77 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

CORRIGENDUM:

Corrigenda
Hum. Mol. Genet. 2001 10: 85-87; doi:10.1093/hmg/10.1.85 [PDF] [Request Permissions]  

ERRATUM:

Erratum
Hum. Mol. Genet. 2001 10: 88; doi:10.1093/hmg/10.1.88 [PDF] [Request Permissions]  

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