Human Molecular Genetics

ARTICLES:

Hyoung Doo Shin, Byung Lae Park, Lyoung Hyo Kim, Hye-Soon Lee, Think-You Kim, and Sang-Cheol Bae

Common DNase I polymorphism associated with autoantibody production among systemic lupus erythematosus patients
Human Molecular Genetics Advance Access published on August 27, 2004
Hum. Mol. Genet. 2004 13: 2343-2350; doi:10.1093/hmg/ddh275 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Andrea N. Albrecht, Uwe Kornak, Annett Böddrich, Kathrin Süring, Peter N. Robinson, Asita C. Stiege, Rudi Lurz, Sigmar Stricker, Erich E. Wanker, and Stefan Mundlos

A molecular pathogenesis for transcription factor associated poly-alanine tract expansions
Human Molecular Genetics Advance Access published on August 27, 2004
Hum. Mol. Genet. 2004 13: 2351-2359; doi:10.1093/hmg/ddh277 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Francesca Capon, Michael H. Allen, Mahreen Ameen, A. David Burden, David Tillman, Jonathan N. Barker, and Richard C. Trembath

A synonymous SNP of the corneodesmosin gene leads to increased mRNA stability and demonstrates association with psoriasis across diverse ethnic groups
Human Molecular Genetics Advance Access published on August 27, 2004
Hum. Mol. Genet. 2004 13: 2361-2368; doi:10.1093/hmg/ddh273 [Abstract] [FREE Full Text] [PDF] [Supplementary Material] [Request Permissions]  

Pierre-Marie Girard, Boris Kysela, Christine J. Härer, Aidan J. Doherty, and Penny A. Jeggo

Analysis of DNA ligase IV mutations found in LIG4 syndrome patients: the impact of two linked polymorphisms
Human Molecular Genetics Advance Access published on August 27, 2004
Hum. Mol. Genet. 2004 13: 2369-2376; doi:10.1093/hmg/ddh274 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Sally Boxall, Tara Stanton, Kouzo Hirai, Victoria Ward, Tomoyo Yasui, Hideki Tahara, Akihiro Tamori, Shuhei Nishiguchi, Susumu Shiomi, Osamu Ishiko, Masaaki Inaba, Yoshiki Nishizawa, Ritu Dawes, Walter Bodmer, Peter C.L. Beverley, and Elma Z. Tchilian

Disease associations and altered immune function in CD45 138G variant carriers
Human Molecular Genetics Advance Access published on August 27, 2004
Hum. Mol. Genet. 2004 13: 2377-2384; doi:10.1093/hmg/ddh276 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Ilja Demuth, Pierre-Olivier Frappart, Gabriele Hildebrand, Anna Melchers, Stephan Lobitz, Lars Stöckl, Raymonda Varon, Zdenko Herceg, Karl Sperling, Zhao-Qi Wang, and Martin Digweed

An inducible null mutant murine model of Nijmegen breakage syndrome proves the essential function of NBS1 in chromosomal stability and cell viability
Human Molecular Genetics Advance Access published on August 27, 2004
Hum. Mol. Genet. 2004 13: 2385-2397; doi:10.1093/hmg/ddh278 [Abstract] [FREE Full Text] [PDF] [Supplementary Material] [Request Permissions]  

Valeria Busygina, Kanya Suphapeetiporn, Lorri R. Marek, R. Steven Stowers, Tian Xu, and Allen E. Bale

Hypermutability in a Drosophila model for multiple endocrine neoplasia type 1
Human Molecular Genetics Advance Access published on August 27, 2004
Hum. Mol. Genet. 2004 13: 2399-2408; doi:10.1093/hmg/ddh271 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Ivone G. Bruno, Wei Jin, and Gilbert J. Cote

Correction of aberrant FGFR1 alternative RNA splicing through targeting of intronic regulatory elements
Human Molecular Genetics Advance Access published on August 27, 2004
Hum. Mol. Genet. 2004 13: 2409-2420; doi:10.1093/hmg/ddh272 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Jinhu Yin, Yong Tae Kwon, Alexander Varshavsky, and Weidong Wang

RECQL4, mutated in the Rothmund–Thomson and RAPADILINO syndromes, interacts with ubiquitin ligases UBR1 and UBR2 of the N-end rule pathway
Human Molecular Genetics Advance Access published on August 18, 2004
Hum. Mol. Genet. 2004 13: 2421-2430; doi:10.1093/hmg/ddh269 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Matthew L. Freedman, Kathryn L. Penney, Daniel O. Stram, Loïc Le Marchand, Joel N. Hirschhorn, Laurence N. Kolonel, David Altshuler, Brian E. Henderson, and Christopher A. Haiman

Common variation in BRCA2 and breast cancer risk: a haplotype-based analysis in the Multiethnic Cohort
Human Molecular Genetics Advance Access published on August 18, 2004
Hum. Mol. Genet. 2004 13: 2431-2441; doi:10.1093/hmg/ddh270 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Miquel Taron, Rafael Rosell, Enriqueta Felip, Pedro Mendez, John Souglakos, Maria Sanchez Ronco, Cristina Queralt, Joaquim Majo, Jose Miguel Sanchez, Jose Javier Sanchez, and Jose Maestre

BRCA1 mRNA expression levels as an indicator of chemoresistance in lung cancer
Human Molecular Genetics Advance Access published on August 18, 2004
Hum. Mol. Genet. 2004 13: 2443-2449; doi:10.1093/hmg/ddh260 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Luis Alvarez, Paloma Jara, Elena Sánchez-Sabaté, Loreto Hierro, Javier Larrauri, María C. Díaz, Carmen Camarena, Angela De la Vega, Esteban Frauca, Eduardo López-Collazo, and Pablo Lapunzina

Reduced hepatic expression of farnesoid X receptor in hereditary cholestasis associated to mutation in ATP8B1
Human Molecular Genetics Advance Access published on August 18, 2004
Hum. Mol. Genet. 2004 13: 2451-2460; doi:10.1093/hmg/ddh261 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Cristina Ugalde, Rutger Vogel, Richard Huijbens, Bert van den Heuvel, Jan Smeitink, and Leo Nijtmans

Human mitochondrial complex I assembles through the combination of evolutionary conserved modules: a framework to interpret complex I deficiencies
Human Molecular Genetics Advance Access published on August 18, 2004
Hum. Mol. Genet. 2004 13: 2461-2472; doi:10.1093/hmg/ddh262 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Caroline Lefèvre, Bakar Bouadjar, Aysen Karaduman, Florence Jobard, Safa Saker, Meral Özguc, Mark Lathrop, Jean-François Prud'homme, and Judith Fischer

Mutations in ichthyin a new gene on chromosome 5q33 in a new form of autosomal recessive congenital ichthyosis
Human Molecular Genetics Advance Access published on August 18, 2004
Hum. Mol. Genet. 2004 13: 2473-2482; doi:10.1093/hmg/ddh263 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Robert Steinfeld, Hans-Bertram Steinke, Dirk Isbrandt, Alfried Kohlschütter, and Jutta Gärtner

Mutations in classical late infantile neuronal ceroid lipofuscinosis disrupt transport of tripeptidyl-peptidase I to lysosomes
Human Molecular Genetics Advance Access published on August 18, 2004
Hum. Mol. Genet. 2004 13: 2483-2491; doi:10.1093/hmg/ddh264 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Claire L. Navarro, Annachiara De Sandre-Giovannoli, Rafaëlle Bernard, Irène Boccaccio, Amandine Boyer, David Geneviève, Smail Hadj-Rabia, Caroline Gaudy-Marqueste, Henk Sillevis Smitt, Pierre Vabres, Laurence Faivre, Alain Verloes, Ton Van Essen, Elisabeth Flori, Raoul Hennekam, Frits A. Beemer, Nicole Laurent, Martine Le Merrer, Pierre Cau, and Nicolas Lévy

Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy
Human Molecular Genetics Advance Access published on August 18, 2004
Hum. Mol. Genet. 2004 13: 2493-2503; doi:10.1093/hmg/ddh265 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

D. Fearghas O'Cochlain, Carmen Perez-Terzic, Santiago Reyes, Garvan C. Kane, Atta Behfar, Denice M. Hodgson, Jeffrey A. Strommen, Xiao-Ke Liu, Walther van den Broek, Derick G. Wansink, Bé Wieringa, and Andre Terzic

Transgenic overexpression of human DMPK accumulates into hypertrophic cardiomyopathy, myotonic myopathy and hypotension traits of myotonic dystrophy
Human Molecular Genetics Advance Access published on August 18, 2004
Hum. Mol. Genet. 2004 13: 2505-2518; doi:10.1093/hmg/ddh266 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Olga A. Kolesnikova, Nina S. Entelis, Clarisse Jacquin-Becker, Francine Goltzene, Zofia M. Chrzanowska-Lightowlers, Robert N. Lightowlers, Robert P. Martin, and Ivan Tarassov

Nuclear DNA-encoded tRNAs targeted into mitochondria can rescue a mitochondrial DNA mutation associated with the MERRF syndrome in cultured human cells
Human Molecular Genetics Advance Access published on August 18, 2004
Hum. Mol. Genet. 2004 13: 2519-2534; doi:10.1093/hmg/ddh267 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Heliane G. Serra, Courtney E. Byam, Jeffrey D. Lande, Susan K. Tousey, Huda Y. Zoghbi, and Harry T. Orr

Gene profiling links SCA1 pathophysiology to glutamate signaling in Purkinje cells of transgenic mice
Human Molecular Genetics Advance Access published on August 18, 2004
Hum. Mol. Genet. 2004 13: 2535-2543; doi:10.1093/hmg/ddh268 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Corrigenda:

Michael Olivier, Chao A. Hsiung, Lee-Ming Chuang, Lo-Tone Ho, Chih-Tai Ting, Valerie I. Bustos, Teresa M. Lee, Anniek de Witte, Yii-Der I. Chen, Richard Olshen, Beatriz Rodriguez, Chi-Chung Wen, and David R. Cox

Single nucleotide polymorphisms in protein tyrosine phosphatase 1ß (PTPN1) are associated with essential hypertension and obesity
Hum. Mol. Genet. 2004 13: 2545; doi:10.1093/hmg/ddh283 [Extract] [FREE Full Text] [PDF] [Request Permissions]  

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