Human Molecular Genetics

ARTICLES

Get checked abstract Hirohide Asai, Makito Hirano, Keiji Shimada, Takao Kiriyama, Yoshiko Furiya, Masanori Ikeda, Takaaki Iwamoto, Toshio Mori, Kazuto Nishinaka, Noboru Konishi, Fukashi Udaka, and Satoshi Ueno

Protein kinase C, a protein causative for dominant ataxia, negatively regulates nuclear import of recessive-ataxia-related aprataxin
Human Molecular Genetics Advance Access published on June 26, 2009
Hum. Mol. Genet. 2009 18: 3533-3543; doi:10.1093/hmg/ddp298 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Get checked abstract Stella Marie Reamon-Buettner, Yari Ciribilli, Ilaria Traverso, Beate Kuhls, Alberto Inga, and Juergen Borlak

A functional genetic study identifies HAND1 mutations in septation defects of the human heart
Human Molecular Genetics Advance Access published on July 7, 2009
Hum. Mol. Genet. 2009 18: 3567-3578; doi:10.1093/hmg/ddp305 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Get checked abstract Lisenka E.L.M. Vissers, Samarth S. Bhatt, Irene M. Janssen, Zhilian Xia, Seema R. Lalani, Rolph Pfundt, Katarzyna Derwinska, Bert B.A. de Vries, Christian Gilissen, Alexander Hoischen, Monika Nesteruk, Barbara Wisniowiecka-Kowalnik, Marta Smyk, Han G. Brunner, Sau Wai Cheung, Ad Geurts van Kessel, Joris A. Veltman, and Pawel Stankiewicz

Rare pathogenic microdeletions and tandem duplications are microhomology-mediated and stimulated by local genomic architecture
Human Molecular Genetics Advance Access published on July 3, 2009
Hum. Mol. Genet. 2009 18: 3579-3593; doi:10.1093/hmg/ddp306 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Get checked abstract Jenny A. Watson, Chris J. Watson, Ann-Maria McCrohan, Kathryn Woodfine, Miriam Tosetto, Jennifer McDaid, Emma Gallagher, David Betts, John Baugh, Jacintha O'Sullivan, Adele Murrell, R. William G. Watson, and Amanda McCann

Generation of an epigenetic signature by chronic hypoxia in prostate cells
Human Molecular Genetics Advance Access published on July 7, 2009
Hum. Mol. Genet. 2009 18: 3594-3604; doi:10.1093/hmg/ddp307 [Abstract] [Full Text] [PDF] [Request Permissions]  

Get checked abstract Angélique Chauvin, Jian-Min Chen, Sylvia Quemener, Emmanuelle Masson, Hildegard Kehrer-Sawatzki, Barbara Ohmle, David N. Cooper, Cédric Le Maréchal, and Claude Férec

Elucidation of the complex structure and origin of the human trypsinogen locus triplication
Human Molecular Genetics Advance Access published on July 7, 2009
Hum. Mol. Genet. 2009 18: 3605-3614; doi:10.1093/hmg/ddp308 [Abstract] [Full Text] [PDF] [Request Permissions]  

Get checked abstract Kum-Loong Boon, Shu Xiao, Michelle L. McWhorter, Thomas Donn, Emma Wolf-Saxon, Markus T. Bohnsack, Cecilia B. Moens, and Christine E. Beattie

Zebrafish survival motor neuron mutants exhibit presynaptic neuromuscular junction defects
Human Molecular Genetics Advance Access published on July 10, 2009
Hum. Mol. Genet. 2009 18: 3615-3625; doi:10.1093/hmg/ddp310 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Get checked abstract Leanne M. Dibbens, Saul Mullen, Ingo Helbig, Heather C. Mefford, Marta A. Bayly, Susannah Bellows, Costin Leu, Holger Trucks, Tanja Obermeier, Michael Wittig, Andre Franke, Hande Caglayan, Zuhal Yapici, EPICURE Consortium, Thomas Sander, Evan E. Eichler, Ingrid E. Scheffer, John C. Mulley, and Samuel F. Berkovic

Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: precedent for disorders with complex inheritance
Human Molecular Genetics Advance Access published on July 10, 2009
Hum. Mol. Genet. 2009 18: 3626-3631; doi:10.1093/hmg/ddp311 [Abstract] [Full Text] [PDF] [Request Permissions]  

Get checked abstract Joëlle Deplazes, Margit Fuchs, Sandra Rauser, Harald Genth, Ernst Lengyel, Raymonde Busch, and Birgit Luber

Rac1 and Rho contribute to the migratory and invasive phenotype associated with somatic E-cadherin mutation
Human Molecular Genetics Advance Access published on July 7, 2009
Hum. Mol. Genet. 2009 18: 3632-3644; doi:10.1093/hmg/ddp312 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Get checked abstract Lutz Garbes, Markus Riessland, Irmgard Hölker, Raoul Heller, Jan Hauke, Christian Tränkle, Roland Coras, Ingmar Blümcke, Eric Hahnen, and Brunhilde Wirth

LBH589 induces up to 10-fold SMN protein levels by several independent mechanisms and is effective even in cells from SMA patients non-responsive to valproate
Human Molecular Genetics Advance Access published on July 7, 2009
Hum. Mol. Genet. 2009 18: 3645-3658; doi:10.1093/hmg/ddp313 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Get checked abstract Zhihao Wu, Chenghua Li, Shan Lv, and Bing Zhou

Pantothenate kinase-associated neurodegeneration: insights from a Drosophila model
Human Molecular Genetics Advance Access published on July 13, 2009
Hum. Mol. Genet. 2009 18: 3659-3672; doi:10.1093/hmg/ddp314 [Abstract] [Full Text] [PDF] [Request Permissions]  

Get checked abstract Andrew J. Ramsay, Victor Quesada, Mayka Sanchez, Cecilia Garabaya, María P. Sardà, Montserrat Baiget, Angel Remacha, Gloria Velasco, and Carlos López-Otín

Matriptase-2 mutations in iron-refractory iron deficiency anemia patients provide new insights into protease activation mechanisms
Human Molecular Genetics Advance Access published on July 10, 2009
Hum. Mol. Genet. 2009 18: 3673-3683; doi:10.1093/hmg/ddp315 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Get checked abstract Heather L. Ball, Bing Zhang, J. Jacob Riches, Rikesh Gandhi, Jing Li, Johanna M. Rommens, and Jeremy S. Myers

Shwachman-Bodian Diamond syndrome is a multi-functional protein implicated in cellular stress responses
Human Molecular Genetics Advance Access published on July 14, 2009
Hum. Mol. Genet. 2009 18: 3684-3695; doi:10.1093/hmg/ddp316 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Get checked abstract Vânia Gonçalves, Paulo Matos, and Peter Jordan

Antagonistic SR proteins regulate alternative splicing of tumor-related Rac1b downstream of the PI3-kinase and Wnt pathways
Human Molecular Genetics Advance Access published on July 13, 2009
Hum. Mol. Genet. 2009 18: 3696-3707; doi:10.1093/hmg/ddp317 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Get checked abstract Kunio Kitamura, Yukiko Itou, Masako Yanazawa, Maki Ohsawa, Rika Suzuki-Migishima, Yuko Umeki, Hirohiko Hohjoh, Yuchio Yanagawa, Toshikazu Shinba, Masayuki Itoh, Kenji Nakamura, and Yu-ichi Goto

Three human ARX mutations cause the lissencephaly-like and mental retardation with epilepsy-like pleiotropic phenotypes in mice
Human Molecular Genetics Advance Access published on July 15, 2009
Hum. Mol. Genet. 2009 18: 3708-3724; doi:10.1093/hmg/ddp318 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

ASSOCIATION STUDIES ARTICLES

Get checked abstract Weiva Sieh, Yoonha Choi, Nicola H. Chapman, Ulla-Katrina Craig, Ellen J. Steinbart, Joseph H. Rothstein, Kiyomitsu Oyanagi, Ralph M. Garruto, Thomas D. Bird, Douglas R. Galasko, Gerard D. Schellenberg, and Ellen M. Wijsman

Identification of novel susceptibility loci for Guam neurodegenerative disease: challenges of genome scans in genetic isolates
Human Molecular Genetics Advance Access published on June 30, 2009
Hum. Mol. Genet. 2009 18: 3725-3738; doi:10.1093/hmg/ddp300 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Get checked abstract Elena Sánchez, Rogelio J. Palomino-Morales, Norberto Ortego-Centeno, Juan Jiménez-Alonso, Miguel A. González-Gay, Miguel A. López-Nevot, Julio Sánchez-Román, Enrique de Ramón, M. Francisca González-Escribano, Bernardo A. Pons-Estel, Sandra D'Alfonso, Gian Domenico Sebastiani The Italian collaborative group, Marta E. Alarcón-Riquelme, and Javier Martín

Identification of a new putative functional IL18 gene variant through an association study in systemic lupus erythematosus
Human Molecular Genetics Advance Access published on July 7, 2009
Hum. Mol. Genet. 2009 18: 3739-3748; doi:10.1093/hmg/ddp301 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Get checked abstract Jiyoung Ahn, Fredrick R. Schumacher, Sonja I. Berndt, Ruth Pfeiffer, Demetrius Albanes, Gerald L. Andriole, Eva Ardanaz, Heiner Boeing, Bas Bueno-de-Mesquita, Stephen J. Chanock, Françoise Clavel-Chapelon, W. Ryan Diver, Heather Spencer Feigelson, J. Michael Gaziano, Edward Giovannucci, Christopher A. Haiman, Brian E. Henderson, Robert N. Hoover, Laurence N. Kolonel, Peter Kraft, Jing Ma, Loïc Le Marchand, Kim Overvad, Domenico Palli, Pär Stattin, Meir Stampfer, Daniel O. Stram, Gilles Thomas, Michael J. Thun, Ruth C. Travis, Dimitrios Trichopoulos, Jarmo Virtamo, Stephanie J. Weinstein, Meredith Yeager, Rudolf Kaaks, David J. Hunter, and Richard B. Hayes

Quantitative trait loci predicting circulating sex steroid hormones in men from the NCI-Breast and Prostate Cancer Cohort Consortium (BPC3)
Human Molecular Genetics Advance Access published on July 2, 2009
Hum. Mol. Genet. 2009 18: 3749-3757; doi:10.1093/hmg/ddp302 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Get checked abstract Martina Teichert, Mark Eijgelsheim, Fernando Rivadeneira, Andre G. Uitterlinden, Ron H.N. van Schaik, Albert Hofman, Peter A.G.M. De Smet, Teun van Gelder, Loes E. Visser, and Bruno H.Ch. Stricker

A genome-wide association study of acenocoumarol maintenance dosage
Human Molecular Genetics Advance Access published on July 4, 2009
Hum. Mol. Genet. 2009 18: 3758-3768; doi:10.1093/hmg/ddp309 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

FRONT-MATTER/BACK-MATTER

Cover Page
Hum. Mol. Genet. 2009 18: NP; doi:10.1093/hmg/ddp375 [PDF] [Request Permissions]  

Editorial Board
Hum. Mol. Genet. 2009 18: NP; doi:10.1093/hmg/ddp376 [PDF] [Request Permissions]  

Subscription Page
Hum. Mol. Genet. 2009 18: NP; doi:10.1093/hmg/ddp377 [PDF] [Request Permissions]  

Contents Page
Hum. Mol. Genet. 2009 18: NP; doi:10.1093/hmg/ddp374 [PDF] [Request Permissions]  

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