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Contents: Volume 18, Number 22, 15 November 2009   [Index by Author] 

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To see an article, click its [Full Text] or [PDF] link. To review many abstracts, check the boxes to the left of the titles you want, and click the 'Get All Checked Abstract(s)' button. To see one abstract at a time, click its [Abstract] link.

ARTICLES Back

Karen N. Leung, Roxanne O. Vallero, Amanda J. DuBose, James L. Resnick, and Janine M. LaSalle
Imprinting regulates mammalian snoRNA-encoding chromatin decondensation and neuronal nucleolar size
Human Molecular Genetics Advance Access published on August 5, 2009
Hum. Mol. Genet. 2009 18: 4227-4238; doi:10.1093/hmg/ddp373 [Abstract] [FREE Full Text] [PDF] [Supplementary Data]   Creative Commons License OPEN ACCESS  

Hikaru Ito, Natsue Yoshimura, Masaru Kurosawa, Shunsuke Ishii, Nobuyuki Nukina, and Hitoshi Okazawa
Knock-down of PQBP1 impairs anxiety-related cognition in mouse
Human Molecular Genetics Advance Access published on August 6, 2009
Hum. Mol. Genet. 2009 18: 4239-4254; doi:10.1093/hmg/ddp378 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Louis Lefebvre, Lynn Mar, Aaron Bogutz, Rosemary Oh-McGinnis, Mohammad A. Mandegar, Jana Paderova, Marina Gertsenstein, Jeremy A. Squire, and Andras Nagy
The interval between Ins2 and Ascl2 is dispensable for imprinting centre function in the murine Beckwith–Wiedemann region
Human Molecular Genetics Advance Access published on August 14, 2009
Hum. Mol. Genet. 2009 18: 4255-4267; doi:10.1093/hmg/ddp379 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Zheng Ying, Hongfeng Wang, Huadong Fan, Xiaodong Zhu, Jiawei Zhou, Erkang Fei, and Guanghui Wang
Gp78, an ER associated E3, promotes SOD1 and ataxin-3 degradation
Human Molecular Genetics Advance Access published on August 6, 2009
Hum. Mol. Genet. 2009 18: 4268-4281; doi:10.1093/hmg/ddp380 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Jana Boy, Thorsten Schmidt, Hartwig Wolburg, Andreas Mack, Silke Nuber, Martin Böttcher, Ina Schmitt, Carsten Holzmann, Frank Zimmermann, Antonio Servadio, and Olaf Riess
Reversibility of symptoms in a conditional mouse model of spinocerebellar ataxia type 3
Human Molecular Genetics Advance Access published on August 10, 2009
Hum. Mol. Genet. 2009 18: 4282-4295; doi:10.1093/hmg/ddp381 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Kevin Bullaughey, Claudia I. Chavarria, Graham Coop, and Yoav Gilad
Expression quantitative trait loci detected in cell lines are often present in primary tissues
Human Molecular Genetics Advance Access published on August 11, 2009
Hum. Mol. Genet. 2009 18: 4296-4303; doi:10.1093/hmg/ddp382 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Cécile Vercherat, Teng-Kai Chung, Safak Yalcin, Neriman Gulbagci, Suma Gopinadhan, Saghi Ghaffari, and Reshma Taneja
Stra13 regulates oxidative stress mediated skeletal muscle degeneration
Human Molecular Genetics Advance Access published on August 13, 2009
Hum. Mol. Genet. 2009 18: 4304-4316; doi:10.1093/hmg/ddp383 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Alison K. Berger, Giuseppe P. Cortese, Katherine D. Amodeo, Andreas Weihofen, Anthony Letai, and Matthew J. LaVoie
Parkin selectively alters the intrinsic threshold for mitochondrial cytochrome c release
Human Molecular Genetics Advance Access published on August 13, 2009
Hum. Mol. Genet. 2009 18: 4317-4328; doi:10.1093/hmg/ddp384 [Abstract] [Full Text] [PDF] [Request Permissions]  

Jungyeon Won, Elaine Gifford, Richard S. Smith, Haiqing Yi, Paulo A. Ferreira, Wanda L. Hicks, Tiansen Li, Jürgen K. Naggert, and Patsy M. Nishina
RPGRIP1 is essential for normal rod photoreceptor outer segment elaboration and morphogenesis
Human Molecular Genetics Advance Access published on August 13, 2009
Hum. Mol. Genet. 2009 18: 4329-4339; doi:10.1093/hmg/ddp385 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Chunliang Li, Junmei Zhou, Guilai Shi, Yu Ma, Ying Yang, Junjie Gu, Hongyao Yu, Shibo Jin, Zhe Wei, Fang Chen, and Ying Jin
Pluripotency can be rapidly and efficiently induced in human amniotic fluid-derived cells
Human Molecular Genetics Advance Access published on August 13, 2009
Hum. Mol. Genet. 2009 18: 4340-4349; doi:10.1093/hmg/ddp386 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Patricie Paesold-Burda, Charlotte Maag, Heinz Troxler, François Foulquier, Peter Kleinert, Siegrun Schnabel, Matthias Baumgartner, and Thierry Hennet
Deficiency in COG5 causes a moderate form of congenital disorders of glycosylation
Human Molecular Genetics Advance Access published on August 18, 2009
Hum. Mol. Genet. 2009 18: 4350-4356; doi:10.1093/hmg/ddp389 [Abstract] [Full Text] [PDF] [Request Permissions]  

Hulya Kayserili, Elif Uz, Carien Niessen, Ibrahim Vargel, Yasemin Alanay, Gokhan Tuncbilek, Gokhan Yigit, Oya Uyguner, Sukru Candan, Hamza Okur, Serkan Kaygin, Sevim Balci, Emin Mavili, Mehmet Alikasifoglu, Ingo Haase, Bernd Wollnik, and Nurten Ayse Akarsu
ALX4 dysfunction disrupts craniofacial and epidermal development
Human Molecular Genetics Advance Access published on August 19, 2009
Hum. Mol. Genet. 2009 18: 4357-4366; doi:10.1093/hmg/ddp391 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Roxanne Y. Walder, Baoli Yang, John B. Stokes, Patricia A. Kirby, Xiao Cao, Peijun Shi, Charles C. Searby, Russell F. Husted, and Val C. Sheffield
Mice defective in Trpm6 show embryonic mortality and neural tube defects
Human Molecular Genetics Advance Access published on August 18, 2009
Hum. Mol. Genet. 2009 18: 4367-4375; doi:10.1093/hmg/ddp392 [Abstract] [Full Text] [PDF] [Request Permissions]  

Cory R. Nicholas, Kelly M. Haston, Amarjeet K. Grewall, Teri A. Longacre, and Renee A. Reijo Pera
Transplantation directs oocyte maturation from embryonic stem cells and provides a therapeutic strategy for female infertility
Human Molecular Genetics Advance Access published on August 20, 2009
Hum. Mol. Genet. 2009 18: 4376-4389; doi:10.1093/hmg/ddp393 [Abstract] [FREE Full Text] [PDF] [Supplementary Data]   Creative Commons License OPEN ACCESS  

Katerina Venderova, Ghassan Kabbach, Elizabeth Abdel-Messih, Yi Zhang, Robin J. Parks, Yuzuru Imai, Stephan Gehrke, Johnny Ngsee, Matthew J. LaVoie, Ruth S. Slack, Yong Rao, Zhuohua Zhang, Bingwei Lu, M. Emdadul Haque, and David S. Park
Leucine-rich repeat kinase 2 interacts with Parkin, DJ-1 and PINK-1 in a Drosophila melanogaster model of Parkinson's disease
Human Molecular Genetics Advance Access published on August 19, 2009
Hum. Mol. Genet. 2009 18: 4390-4404; doi:10.1093/hmg/ddp394 [Abstract] [Full Text] [PDF] [Request Permissions]  

HaiFang Yin, Hong M. Moulton, Corinne Betts, Yiqi Seow, Jordan Boutilier, Patrick L. Iverson, and Matthew J.A. Wood
A fusion peptide directs enhanced systemic dystrophin exon skipping and functional restoration in dystrophin-deficient mdx mice
Human Molecular Genetics Advance Access published on August 18, 2009
Hum. Mol. Genet. 2009 18: 4405-4414; doi:10.1093/hmg/ddp395 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Anna J. Jasinska, Susan Service, Oi-wa Choi, Joseph DeYoung, Olivera Grujic, Sit-yee Kong, Matthew J. Jorgensen, Julia Bailey, Sherry Breidenthal, Lynn A. Fairbanks, Roger P. Woods, J. David Jentsch, and Nelson B. Freimer
Identification of brain transcriptional variation reproduced in peripheral blood: an approach for mapping brain expression traits
Human Molecular Genetics Advance Access published on August 19, 2009
Hum. Mol. Genet. 2009 18: 4415-4427; doi:10.1093/hmg/ddp397 [Abstract] [FREE Full Text] [PDF] [Supplementary Data]   Creative Commons License OPEN ACCESS  

Jing Zhou, James Brugarolas, and Luis F. Parada
Loss of Tsc1, but not Pten, in renal tubular cells causes polycystic kidney disease by activating mTORC1
Human Molecular Genetics Advance Access published on August 19, 2009
Hum. Mol. Genet. 2009 18: 4428-4441; doi:10.1093/hmg/ddp398 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

ASSOCIATION STUDIES ARTICLES Back

Antonis C. Antoniou, Olga M. Sinilnikova, Lesley McGuffog, Sue Healey, Heli Nevanlinna, Tuomas Heikkinen, Jacques Simard, Amanda B. Spurdle, Jonathan Beesley, Xiaoqing Chen, The Kathleen Cuningham Foundation Consortium for Research into Familial Breast Cancer, Susan L. Neuhausen, Yuan C. Ding, Fergus J. Couch, Xianshu Wang, Zachary Fredericksen, Paolo Peterlongo, Bernard Peissel, Bernardo Bonanni, Alessandra Viel, Loris Bernard, Paolo Radice, Csilla I. Szabo, Lenka Foretova, Michal Zikan, Kathleen Claes, Mark H. Greene, Phuong L. Mai, Gad Rennert, Flavio Lejbkowicz, Irene L. Andrulis, Hilmi Ozcelik, Gord Glendon, OCGN, Anne-Marie Gerdes, Mads Thomassen, Lone Sunde, Maria A. Caligo, Yael Laitman, Tair Kontorovich, Shimrit Cohen, Bella Kaufman, Efrat Dagan, Ruth Gershoni Baruch, Eitan Friedman, Katja Harbst, Gisela Barbany-Bustinza, Johanna Rantala, Hans Ehrencrona, Per Karlsson, Susan M. Domchek, Katherine L. Nathanson, Ana Osorio, Ignacio Blanco, Adriana Lasa, Javier Benítez, Ute Hamann, Frans B.L. Hogervorst, Matti A. Rookus, J. Margriet Collee, Peter Devilee, Marjolijn J. Ligtenberg, Rob B. van der Luijt, Cora M. Aalfs, Quinten Waisfisz, Juul Wijnen, Cornelis E.P. van Roozendaal, HEBON, Susan Peock, Margaret Cook, Debra Frost, Clare Oliver, Radka Platte, D. Gareth Evans, Fiona Lalloo, Rosalind Eeles, Louise Izatt, Rosemarie Davidson, Carol Chu, Diana Eccles, Trevor Cole, Shirley Hodgson, EMBRACE, Andrew K. Godwin, Dominique Stoppa-Lyonnet, Bruno Buecher, Mélanie Léoné, Brigitte Bressac-de Paillerets, Audrey Remenieras, Olivier Caron, Gilbert M. Lenoir, Nicolas Sevenet, Michel Longy, Sandra Fert Ferrer, Fabienne Prieur, GEMO, David Goldgar, Alexander Miron, Esther M. John, Saundra S. Buys, Mary B. Daly, John L. Hopper, Mary Beth Terry, Yosuf Yassin, Breast Cancer Family Registry, Christian Singer, Daphne Gschwantler-Kaulich, Christine Staudigl, Thomas v. O. Hansen, Rosa Bjork Barkardottir, Tomas Kirchhoff, Prodipto Pal, Kristi Kosarin, Kenneth Offit, Marion Piedmonte, Gustavo C. Rodriguez, Katie Wakeley, John F. Boggess, Jack Basil, Peter E. Schwartz, Stephanie V. Blank, Amanda E. Toland, Marco Montagna, Cinzia Casella, Evgeny N. Imyanitov, Anna Allavena, Rita K. Schmutzler, Beatrix Versmold, Christoph Engel, Alfons Meindl, Nina Ditsch, Norbert Arnold, Dieter Niederacher, Helmut Deißler, Britta Fiebig, Christian Suttner, Ines Schönbuchner, Dorothea Gadzicki, Trinidad Caldes, Miguel de la Hoya, Karen A. Pooley, Douglas F. Easton, and Georgia Chenevix-Trench on behalf of CIMBA.
Common variants in LSP1, 2q35 and 8q24 and breast cancer risk for BRCA1 and BRCA2 mutation carriers
Human Molecular Genetics Advance Access published on August 5, 2009
Hum. Mol. Genet. 2009 18: 4442-4456; doi:10.1093/hmg/ddp372 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Luisa Zuccolo, Nicola Fitz-Simon, Ron Gray, Susan M. Ring, Kapil Sayal, George Davey Smith, and Sarah J. Lewis
A non-synonymous variant in ADH1B is strongly associated with prenatal alcohol use in a European sample of pregnant women
Human Molecular Genetics Advance Access published on August 17, 2009
Hum. Mol. Genet. 2009 18: 4457-4466; doi:10.1093/hmg/ddp388 [Abstract] [FREE Full Text] [PDF] [Supplementary Data]   Creative Commons License OPEN ACCESS  

FRONT-MATTER/BACK-MATTER Back

Cover Page
Hum. Mol. Genet. 2009 18: NP; doi:10.1093/hmg/ddp450 [PDF] [Request Permissions]  

Editorial Board
Hum. Mol. Genet. 2009 18: NP; doi:10.1093/hmg/ddp452 [PDF] [Request Permissions]  

Subscription Page
Hum. Mol. Genet. 2009 18: NP; doi:10.1093/hmg/ddp454 [PDF] [Request Permissions]  

Contents Page
Hum. Mol. Genet. 2009 18: NP; doi:10.1093/hmg/ddp448 [PDF] [Request Permissions]  

To see an article, click its [Full Text] or [PDF] link. To review many abstracts, check the boxes to the left of the titles you want, and click the 'Get All Checked Abstract(s)' button. To see one abstract at a time, click its [Abstract] link.