Human Molecular Genetics

ARTICLES

Get checked abstract Ming-Chang Chiang, Hui-Mei Chen, Hsing-Lin Lai, Hsiao-Wen Chen, Szu-Yi Chou, Chiung-Mei Chen, Fuu-Jen Tsai, and Yijuang Chern

The A_2A adenosine receptor rescues the urea cycle deficiency of Huntington's disease by enhancing the activity of the ubiquitin–proteasome system
Human Molecular Genetics Advance Access published on May 14, 2009
Hum. Mol. Genet. 2009 18: 2929-2942; doi:10.1093/hmg/ddp230 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Get checked abstract Akemi Shono, Hiroyasu Tsukaguchi, Akiko Kitamura, Ryugo Hiramoto, Xiao-Song Qin, Toshio Doi, and Kazumoto Iijima

Predisposition to relapsing nephrotic syndrome by a nephrin mutation that interferes with assembly of functioning microdomains
Human Molecular Genetics Advance Access published on May 14, 2009
Hum. Mol. Genet. 2009 18: 2943-2956; doi:10.1093/hmg/ddp232 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Get checked abstract M. Katharine Rudd, Julia Keene, Brian Bunke, Erin B. Kaminsky, Margaret P. Adam, Jennifer G. Mulle, David H. Ledbetter, and Christa L. Martin

Segmental duplications mediate novel, clinically relevant chromosome rearrangements
Human Molecular Genetics Advance Access published on May 14, 2009
Hum. Mol. Genet. 2009 18: 2957-2962; doi:10.1093/hmg/ddp233 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Get checked abstract Siân E. Williams, Anita A.C. Reed, Juris Galvanovskis, Corinne Antignac, Tim Goodship, Fiona E. Karet, Peter Kotanko, Karl Lhotta, Vincent Morinière, Paul Williams, William Wong, Patrik Rorsman, and Rajesh V. Thakker

Uromodulin mutations causing familial juvenile hyperuricaemic nephropathy lead to protein maturation defects and retention in the endoplasmic reticulum
Human Molecular Genetics Advance Access published on May 22, 2009
Hum. Mol. Genet. 2009 18: 2963-2974; doi:10.1093/hmg/ddp235 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Get checked abstract Annie E. Hill-Baskin, Maciej M. Markiewski, David A. Buchner, Haifeng Shao, David DeSantis, Gene Hsiao, Shankar Subramaniam, Nathan A. Berger, Colleen Croniger, John D. Lambris, and Joseph H. Nadeau

Diet-induced hepatocellular carcinoma in genetically predisposed mice
Human Molecular Genetics Advance Access published on May 19, 2009
Hum. Mol. Genet. 2009 18: 2975-2988; doi:10.1093/hmg/ddp236 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Get checked abstract Frank William Buaas, Pierre Val, and Amanda Swain

The transcription co-factor CITED2 functions during sex determination and early gonad development
Human Molecular Genetics Advance Access published on May 20, 2009
Hum. Mol. Genet. 2009 18: 2989-3001; doi:10.1093/hmg/ddp237 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Get checked abstract Corinne Belville, Jean-Didier Maréchal, Sophie Pennetier, Paul Carmillo, Laura Masgrau, Liza Messika-Zeitoun, Julie Galey, Gabrielle Machado, Dominique Treton, Jacques Gonzalès, Jean-Yves Picard, Nathalie Josso, Richard L. Cate, and Nathalie di Clemente

Natural mutations of the anti-Müllerian hormone type II receptor found in persistent Müllerian duct syndrome affect ligand binding, signal transduction and cellular transport
Human Molecular Genetics Advance Access published on May 20, 2009
Hum. Mol. Genet. 2009 18: 3002-3013; doi:10.1093/hmg/ddp238 [Abstract] [Full Text] [PDF] [Request Permissions]  

Get checked abstract Yanbo Shi, Manik C. Ghosh, Wing-Hang Tong, and Tracey A. Rouault

Human ISD11 is essential for both iron–sulfur cluster assembly and maintenance of normal cellular iron homeostasis
Human Molecular Genetics Advance Access published on May 18, 2009
Hum. Mol. Genet. 2009 18: 3014-3025; doi:10.1093/hmg/ddp239 [Abstract] [Full Text] [PDF] [Request Permissions]  

Get checked abstract Robert A. Waterland, Richard Kellermayer, Marie-Therese Rached, Nina Tatevian, Marcus V. Gomes, Jiexin Zhang, Li Zhang, Abrita Chakravarty, Wei Zhu, Eleonora Laritsky, Wenjuan Zhang, Xiaodan Wang, and Lanlan Shen

Epigenomic profiling indicates a role for DNA methylation in early postnatal liver development
Human Molecular Genetics Advance Access published on May 20, 2009
Hum. Mol. Genet. 2009 18: 3026-3038; doi:10.1093/hmg/ddp241 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Get checked abstract Meera Swami, Audrey E. Hendricks, Tammy Gillis, Tiffany Massood, Jayalakshmi Mysore, Richard H. Myers, and Vanessa C. Wheeler

Somatic expansion of the Huntington's disease CAG repeat in the brain is associated with an earlier age of disease onset
Human Molecular Genetics Advance Access published on May 23, 2009
Hum. Mol. Genet. 2009 18: 3039-3047; doi:10.1093/hmg/ddp242 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Get checked abstract Rajnish K. Chaturvedi, Peter Adhihetty, Shubha Shukla, Thomas Hennessy, Noel Calingasan, Lichuan Yang, Anatoly Starkov, Mahmoud Kiaei, Milena Cannella, Jenny Sassone, Andrea Ciammola, Fernando Squitieri, and M. Flint Beal

Impaired PGC-1 function in muscle in Huntington's disease
Human Molecular Genetics Advance Access published on May 21, 2009
Hum. Mol. Genet. 2009 18: 3048-3065; doi:10.1093/hmg/ddp243 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Get checked abstract David Monk, Philippe Arnaud, Jennifer Frost, Frank A. Hills, Philip Stanier, Robert Feil, and Gudrun E. Moore

Reciprocal imprinting of human GRB10 in placental trophoblast and brain: evolutionary conservation of reversed allelic expression
Human Molecular Genetics Advance Access published on June 1, 2009
Hum. Mol. Genet. 2009 18: 3066-3074; doi:10.1093/hmg/ddp248 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Get checked abstract Matías Morín, Keith E. Bryan, Fernando Mayo-Merino, Richard Goodyear, Ángeles Mencía, Silvia Modamio-Høybjør, Ignacio del Castillo, Jessica M. Cabalka, Guy Richardson, Felipe Moreno, Peter A. Rubenstein, and Miguel Ángel Moreno-Pelayo

In vivo and in vitro effects of two novel gamma-actin (ACTG1) mutations that cause DFNA20/26 hearing impairment
Human Molecular Genetics Advance Access published on May 28, 2009
Hum. Mol. Genet. 2009 18: 3075-3089; doi:10.1093/hmg/ddp249 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Get checked abstract Jing Zhao, Jun Ding, Yingqian Li, Kaiqun Ren, Jiahao Sha, Minsheng Zhu, and Xiang Gao

HnRNP U mediates the long-range regulation of Shh expression during limb development
Human Molecular Genetics Advance Access published on May 28, 2009
Hum. Mol. Genet. 2009 18: 3090-3097; doi:10.1093/hmg/ddp250 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Get checked abstract Rebecca A. Hinshelwood, John R. Melki, Lily I. Huschtscha, Cheryl Paul, Jenny Z. Song, Clare Stirzaker, Roger R. Reddel, and Susan J. Clark

Aberrant de novo methylation of the p16^INK4A CpG island is initiated post gene silencing in association with chromatin remodelling and mimics nucleosome positioning
Human Molecular Genetics Advance Access published on May 28, 2009
Hum. Mol. Genet. 2009 18: 3098-3109; doi:10.1093/hmg/ddp251 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Get checked abstract Hai-Ying M. Cheng, Matias Alvarez-Saavedra, Heather Dziema, Yun Sik Choi, Aiqing Li, and Karl Obrietan

Segregation of expression of mPeriod gene homologs in neurons and glia: possible divergent roles of mPeriod1 and mPeriod2 in the brain
Human Molecular Genetics Advance Access published on May 28, 2009
Hum. Mol. Genet. 2009 18: 3110-3124; doi:10.1093/hmg/ddp252 [Abstract] [Full Text] [PDF] [Request Permissions]  

ASSOCIATION STUDIES ARTICLES

Get checked abstract Jen C. Wang, Carlos Cruchaga, Nancy L. Saccone, Sarah Bertelsen, Pengyuan Liu, John P. Budde, Weimin Duan, Louis Fox, Richard A. Grucza, Jason Kern, Kevin Mayo, Oliver Reyes, John Rice, Scott F. Saccone, Noah Spiegel, Joseph H. Steinbach, Jerry A. Stitzel, Marshall W. Anderson, Ming You, Victoria L. Stevens, Laura J. Bierut, and Alison M. Goate COGEND collaborators and GELCC collaborators

Risk for nicotine dependence and lung cancer is conferred by mRNA expression levels and amino acid change in CHRNA5
Human Molecular Genetics Advance Access published on May 14, 2009
Hum. Mol. Genet. 2009 18: 3125-3135; doi:10.1093/hmg/ddp231 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Get checked abstract Martin Sikora, Anna Ferrer-Admetlla, Hafid Laayouni, Clara Menendez, Alfredo Mayor, Azucena Bardaji, Betuel Sigauque, Inacio Mandomando, Pedro L. Alonso, Jaume Bertranpetit, and Ferran Casals

A variant in the gene FUT9 is associated with susceptibility to placental malaria infection
Human Molecular Genetics Advance Access published on May 21, 2009
Hum. Mol. Genet. 2009 18: 3136-3144; doi:10.1093/hmg/ddp240 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

FRONT-MATTER/BACK-MATTER

Cover Page
Hum. Mol. Genet. 2009 18: NP; doi:10.1093/hmg/ddp284 [PDF] [Request Permissions]  

Editorial Board
Hum. Mol. Genet. 2009 18: NP; doi:10.1093/hmg/ddp285 [PDF] [Request Permissions]  

Subscription Page
Hum. Mol. Genet. 2009 18: NP; doi:10.1093/hmg/ddp287 [PDF] [Request Permissions]  

Contents Page
Hum. Mol. Genet. 2009 18: NP; doi:10.1093/hmg/ddp286 [PDF] [Request Permissions]  

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