Human Molecular Genetics

ARTICLES:

Alfredo Morabia, Eftihia Cayanis, Michael C. Costanza, Barbara M. Ross, Maria Sol Flaherty, Gabriela B. Alvin, Kamna Das, and T. Conrad Gilliam

Association of extreme blood lipid profile phenotypic variation with 11 reverse cholesterol transport genes and 10 non-genetic cardiovascular disease risk factors
Human Molecular Genetics Advance Access published on September 9, 2003
Hum. Mol. Genet. 2003 12: 2733-2743; doi:10.1093/hmg/ddg314 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Jemma B. Wilk, Anita L. DeStefano, Oscar Joost, Richard H. Myers, L. Adrienne Cupples, Karen Slater, Larry D. Atwood, Nancy L. Heard-Costa, Alan Herbert, George T. O'Connor, and Daniel J. Gottlieb

Linkage and association with pulmonary function measures on chromosome 6q27 in the Framingham Heart Study
Human Molecular Genetics Advance Access published on September 9, 2003
Hum. Mol. Genet. 2003 12: 2745-2751; doi:10.1093/hmg/ddg311 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Jiou Wang, Hilda Slunt, Victoria Gonzales, David Fromholt, Michael Coonfield, Neal G. Copeland, Nancy A. Jenkins, and David R. Borchelt

Copper-binding-site-null SOD1 causes ALS in transgenic mice: aggregates of non-native SOD1 delineate a common feature
Human Molecular Genetics Advance Access published on September 9, 2003
Hum. Mol. Genet. 2003 12: 2753-2764; doi:10.1093/hmg/ddg312 [Abstract] [FREE Full Text] [PDF] [Supplementary Material] [Request Permissions]  

Aleister J. Saunders, Lars Bertram, Kristina Mullin, Andrew J. Sampson, Khushal Latifzai, Sanjay Basu, Jennifer Jones, Devon Kinney, Laura MacKenzie-Ingano, Stephen Yu, Marilyn S. Albert, Thomas J. Moscarillo, Rodney C.P. Go, Susan S. Bassett, Mark J. Daly, Nan M. Laird, Xin Wang, Gonul Velicelebi, Steven L. Wagner, David K. Becker, Rudolph E. Tanzi, and Deborah Blacker

Genetic association of Alzheimer's disease with multiple polymorphisms in alpha-2-macroglobulin
Human Molecular Genetics Advance Access published on September 9, 2003
Hum. Mol. Genet. 2003 12: 2765-2776; doi:10.1093/hmg/ddg310 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Bharathi Aravamudan, Daniela Volonte, Ravi Ramani, Erdal Gursoy, Michael P. Lisanti, Barry London, and Ferruccio Galbiati

Transgenic overexpression of caveolin-3 in the heart induces a cardiomyopathic phenotype
Human Molecular Genetics Advance Access published on September 9, 2003
Hum. Mol. Genet. 2003 12: 2777-2788; doi:10.1093/hmg/ddg313 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Kei Watase, Koen J. T. Venken, Yaling Sun, Harry T. Orr, and Huda Y. Zoghbi

Regional differences of somatic CAG repeat instability do not account for selective neuronal vulnerability in a knock-in mouse model of SCA1
Human Molecular Genetics Advance Access published on September 2, 2003
Hum. Mol. Genet. 2003 12: 2789-2795; doi:10.1093/hmg/ddg300 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

I. Jill Karolyi, Frank J. Probst, Lisa Beyer, Hana Odeh, Gary Dootz, Kelly B. Cha, Donna M. Martin, Karen B. Avraham, David Kohrman, David F. Dolan, Yehoash Raphael, and Sally A. Camper

Myo15 function is distinct from Myo6, Myo7a and pirouette genes in development of cochlear stereocilia
Human Molecular Genetics Advance Access published on September 9, 2003
Hum. Mol. Genet. 2003 12: 2797-2805; doi:10.1093/hmg/ddg308 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Maria G. Macedo, Burcu Anar, Iraad F. Bronner, Milena Cannella, Ferdinando Squitieri, Vincenzo Bonifati, André Hoogeveen, Peter Heutink, and Patrizia Rizzu

The DJ-1^L166P mutant protein associated with early onset Parkinson's disease is unstable and forms higher-order protein complexes
Human Molecular Genetics Advance Access published on September 2, 2003
Hum. Mol. Genet. 2003 12: 2807-2816; doi:10.1093/hmg/ddg304 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Manjunath A. Nimmakayalu, Anthony L. Gotter, Tamim H. Shaikh, and Beverly S. Emanuel

A novel sequence-based approach to localize translocation breakpoints identifies the molecular basis of a t(4;22)
Human Molecular Genetics Advance Access published on September 2, 2003
Hum. Mol. Genet. 2003 12: 2817-2825; doi:10.1093/hmg/ddg301 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Etienne Régulier, Yvon Trottier, Valérie Perrin, Patrick Aebischer, and Nicole Déglon

Early and reversible neuropathology induced by tetracycline-regulated lentiviral overexpression of mutant huntingtin in rat striatum
Human Molecular Genetics Advance Access published on September 2, 2003
Hum. Mol. Genet. 2003 12: 2827-2836; doi:10.1093/hmg/ddg305 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

H. Annika Siitonen, Outi Kopra, Helena Kääriäinen, Henna Haravuori, Robin M. Winter, Anna-Marja Säämänen, Leena Peltonen, and Marjo Kestilä

Molecular defect of RAPADILINO syndrome expands the phenotype spectrum of RECQL diseases
Human Molecular Genetics Advance Access published on September 2, 2003
Hum. Mol. Genet. 2003 12: 2837-2844; doi:10.1093/hmg/ddg306 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Hartmut Scheel, Stefan Tomiuk, and Kay Hofmann

Elucidation of ataxin-3 and ataxin-7 function by integrative bioinformatics
Human Molecular Genetics Advance Access published on August 27, 2003
Hum. Mol. Genet. 2003 12: 2845-2852; doi:10.1093/hmg/ddg297 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Cheryl Longman, Martin Brockington, Silvia Torelli, Cecilia Jimenez-Mallebrera, Colin Kennedy, Nofal Khalil, Lucy Feng, Ravindra K. Saran, Thomas Voit, Luciano Merlini, Caroline A. Sewry, Susan C. Brown, and Francesco Muntoni

Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of -dystroglycan
Human Molecular Genetics Advance Access published on September 9, 2003
Hum. Mol. Genet. 2003 12: 2853-2861; doi:10.1093/hmg/ddg307 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Ti Lin, Stacey B. Sandusky, Haipeng Xue, Kenneth W. Fishbein, Richard G. Spencer, Mahendra S. Rao, and Clair A. Francomano

A central nervous system specific mouse model for thanatophoric dysplasia type II
Human Molecular Genetics Advance Access published on September 9, 2003
Hum. Mol. Genet. 2003 12: 2863-2871; doi:10.1093/hmg/ddg309 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

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