Human Molecular Genetics

ARTICLES

Get checked abstract Mei Hong Tan, Alexander J. Smith, Basil Pawlyk, Xiaoyun Xu, Xiaoqing Liu, James B. Bainbridge, Mark Basche, Jenny McIntosh, Hoai Viet Tran, Amit Nathwani, Tiansen Li, and Robin R. Ali

Gene therapy for retinitis pigmentosa and Leber congenital amaurosis caused by defects in AIPL1: effective rescue of mouse models of partial and complete Aipl1 deficiency using AAV2/2 and AAV2/8 vectors
Human Molecular Genetics Advance Access published on March 19, 2009
Hum. Mol. Genet. 2009 18: 2099-2114; doi:10.1093/hmg/ddp133 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Get checked abstract Mariàngels de Planell-Saguer, David G. Schroeder, Maria Celina Rodicio, Gregory A. Cox, and Zissimos Mourelatos

Biochemical and genetic evidence for a role of IGHMBP2 in the translational machinery
Human Molecular Genetics Advance Access published on March 19, 2009
Hum. Mol. Genet. 2009 18: 2115-2126; doi:10.1093/hmg/ddp134 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Get checked abstract A. Jacquier, S. Bellouze, S. Blanchard, D. Bohl, and G. Haase

Astrocytic protection of spinal motor neurons but not cortical neurons against loss of Als2/alsin function
Human Molecular Genetics Advance Access published on March 20, 2009
Hum. Mol. Genet. 2009 18: 2127-2139; doi:10.1093/hmg/ddp136 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Get checked abstract Christine M. Doe, Dinko Relkovic, Alastair S. Garfield, Jeffrey W. Dalley, David E.H. Theobald, Trevor Humby, Lawrence S. Wilkinson, and Anthony R. Isles

Loss of the imprinted snoRNA mbii-52 leads to increased 5htr2c pre-RNA editing and altered 5HT_2CR-mediated behaviour
Human Molecular Genetics Advance Access published on March 20, 2009
Hum. Mol. Genet. 2009 18: 2140-2148; doi:10.1093/hmg/ddp137 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Get checked abstract Vishwanathan Hucthagowder, Eva Morava, Uwe Kornak, Dirk J. Lefeber, Björn Fischer, Aikaterini Dimopoulou, Annika Aldinger, Jiwon Choi, Elaine C. Davis, Dianne N. Abuelo, Maciej Adamowicz, Jumana Al-Aama, Lina Basel-Vanagaite, Bridget Fernandez, Marie T. Greally, Gabriele Gillessen-Kaesbach, Hulya Kayserili, Emmanuelle Lemyre, Mustafa Tekin, Seval Türkmen, Beyhan Tuysuz, Berrin Yüksel-Konuk, Stefan Mundlos, Lionel Van Maldergem, Ron A. Wevers, and Zsolt Urban

Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival
Human Molecular Genetics Advance Access published on March 25, 2009
Hum. Mol. Genet. 2009 18: 2149-2165; doi:10.1093/hmg/ddp148 [Abstract] [Full Text] [PDF] [Request Permissions]  

Get checked abstract Cleo S. Bonnet, Mark Aldred, Christopher von Ruhland, Rebecca Harris, Richard Sandford, and Jeremy P. Cheadle

Defects in cell polarity underlie TSC and ADPKD-associated cystogenesis
Human Molecular Genetics Advance Access published on March 25, 2009
Hum. Mol. Genet. 2009 18: 2166-2176; doi:10.1093/hmg/ddp149 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Get checked abstract Chao Li, Zhisheng Chen, Zhong Liu, Junjiu Huang, Wei Zhang, Lingjun Zhou, David L. Keefe, and Lin Liu

Correlation of expression and methylation of imprinted genes with pluripotency of parthenogenetic embryonic stem cells
Human Molecular Genetics Advance Access published on March 26, 2009
Hum. Mol. Genet. 2009 18: 2177-2187; doi:10.1093/hmg/ddp150 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Get checked abstract Claudia M.B. Carvalho, Feng Zhang, Pengfei Liu, Ankita Patel, Trilochan Sahoo, Carlos A. Bacino, Chad Shaw, Sandra Peacock, Amber Pursley, Y. Jane Tavyev, Melissa B. Ramocki, Magdalena Nawara, Ewa Obersztyn, Angela M. Vianna-Morgante, Pawel Stankiewicz, Huda Y. Zoghbi, Sau Wai Cheung, and James R. Lupski

Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching
Human Molecular Genetics Advance Access published on March 26, 2009
Hum. Mol. Genet. 2009 18: 2188-2203; doi:10.1093/hmg/ddp151 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Get checked abstract Lan Lin, Peng Jiang, Shihao Shen, Seiko Sato, Beverly L. Davidson, and Yi Xing

Large-scale analysis of exonized mammalian-wide interspersed repeats in primate genomes
Human Molecular Genetics Advance Access published on March 26, 2009
Hum. Mol. Genet. 2009 18: 2204-2214; doi:10.1093/hmg/ddp152 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Get checked abstract Eileen Workman, Luciano Saieva, Tessa L. Carrel, Thomas O. Crawford, Don Liu, Cathleen Lutz, Christine E. Beattie, Livio Pellizzoni, and Arthur H.M. Burghes

A SMN missense mutation complements SMN2 restoring snRNPs and rescuing SMA mice
Human Molecular Genetics Advance Access published on March 27, 2009
Hum. Mol. Genet. 2009 18: 2215-2229; doi:10.1093/hmg/ddp157 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Get checked abstract Scot C. Leary, Florin Sasarman, Tamiko Nishimura, and Eric A. Shoubridge

Human SCO2 is required for the synthesis of CO II and as a thiol-disulphide oxidoreductase for SCO1
Human Molecular Genetics Advance Access published on March 31, 2009
Hum. Mol. Genet. 2009 18: 2230-2240; doi:10.1093/hmg/ddp158 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Get checked abstract Andrea E. Murmann, Donald F. Conrad, Heather Mashek, Chris A. Curtis, Raluca I. Nicolae, Carole Ober, and Stuart Schwartz

Inverted duplications on acentric markers: mechanism of formation
Human Molecular Genetics Advance Access published on March 31, 2009
Hum. Mol. Genet. 2009 18: 2241-2256; doi:10.1093/hmg/ddp160 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Get checked abstract Simon T. Cliffe, Jamie M. Kramer, Khalid Hussain, Joris H. Robben, Eiko K. de Jong, Arjan P. de Brouwer, Esther Nibbeling, Erik-Jan Kamsteeg, Melanie Wong, Julie Prendiville, Chela James, Raja Padidela, Charlie Becknell, Hans van Bokhoven, Peter M.T. Deen, Raoul C.M. Hennekam, Robert Lindeman, Annette Schenck, Tony Roscioli, and Michael F. Buckley

SLC29A3 gene is mutated in pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome and interacts with the insulin signaling pathway
Human Molecular Genetics Advance Access published on March 31, 2009
Hum. Mol. Genet. 2009 18: 2257-2265; doi:10.1093/hmg/ddp161 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Get checked abstract Aurore Carré, Gabor Szinnai, Mireille Castanet, Sylvia Sura-Trueba, Elodie Tron, Isabelle Broutin-L’Hermite, Pascal Barat, Cyril Goizet, Didier Lacombe, Marie-Laure Moutard, Christine Raybaud, Catherine Raynaud-Ravni, Serge Romana, Hubert Ythier, Juliane Léger, and Michel Polak

Five new TTF1/NKX2.1 mutations in brain–lung–thyroid syndrome: rescue by PAX8 synergism in one case
Human Molecular Genetics Advance Access published on March 31, 2009
Hum. Mol. Genet. 2009 18: 2266-2276; doi:10.1093/hmg/ddp162 [Abstract] [Full Text] [PDF] [Request Permissions]  

Get checked abstract Tadao Maeda, Artur V. Cideciyan, Akiko Maeda, Marcin Golczak, Tomas S. Aleman, Samuel G. Jacobson, and Krzysztof Palczewski

Loss of cone photoreceptors caused by chromophore depletion is partially prevented by the artificial chromophore pro-drug, 9-cis-retinyl acetate
Human Molecular Genetics Advance Access published on April 1, 2009
Hum. Mol. Genet. 2009 18: 2277-2287; doi:10.1093/hmg/ddp163 [Abstract] [Full Text] [PDF] [Request Permissions]  

ASSOCIATION STUDIES ARTICLES

Get checked abstract Honglin Song, Susan J. Ramus, Susanne Krüger Kjaer, Richard A. DiCioccio, Georgia Chenevix-Trench, Celeste Leigh Pearce, Estrid Hogdall, Alice S. Whittemore, Valerie McGuire, Claus Hogdall, Jan Blaakaer, Anna H. Wu, David J. Van Den Berg, Daniel O. Stram, Usha Menon, Aleksandra Gentry-Maharaj, Ian J. Jacobs, Penny M. Webb, Jonathan Beesley, Xiaoqing Chen, the Australian Cancer (Ovarian) Study, The Australian Ovarian Cancer Study Group, Mary Anne Rossing, Jennifer A. Doherty, Jenny Chang-Claude, Shan Wang-Gohrke, Marc T. Goodman, Galina Lurie, Pamela J. Thompson, Michael E. Carney, Roberta B. Ness, Kirsten Moysich, Ellen L. Goode, Robert A. Vierkant, Julie M. Cunningham, Stephanie Anderson, Joellen M. Schildkraut, Andrew Berchuck, Edwin S. Iversen, Patricia G. Moorman, Montserrat Garcia-Closas, Stephen Chanock, Jolanta Lissowska, Louise Brinton, Hoda Anton-Culver, Argyrios Ziogas, Wendy R. Brewster, Bruce A.J. Ponder, Douglas F. Easton, Simon A. Gayther, and Paul D.P. Pharoah on behalf of the Ovarian Cancer Association Consortium (OCAC)

Association between invasive ovarian cancer susceptibility and 11 best candidate SNPs from breast cancer genome-wide association study
Human Molecular Genetics Advance Access published on March 20, 2009
Hum. Mol. Genet. 2009 18: 2297-2304; doi:10.1093/hmg/ddp138 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

FRONT-MATTER/BACK-MATTER

Cover Page
Hum. Mol. Genet. 2009 18: NP; doi:10.1093/hmg/ddp198 [PDF] [Request Permissions]  

Editorial Board
Hum. Mol. Genet. 2009 18: NP; doi:10.1093/hmg/ddp199 [PDF] [Request Permissions]  

Subscription Page
Hum. Mol. Genet. 2009 18: NP; doi:10.1093/hmg/ddp200 [PDF] [Request Permissions]  

Contents Page
Hum. Mol. Genet. 2009 18: NP; doi:10.1093/hmg/ddp197 [PDF] [Request Permissions]  

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