Hum. Mol. Genet. -- Human Molecular Genetics Advance Access

Human Molecular Genetics Advance Access

HMG Advanced Access articles are initially published in their 'Accepted Manuscript' form as soon as possible post acceptance. Subsequently, a copyedited, typeset, corrected version of the 'Corrected Proof' is also published on the Advanced Access page. More information, including how to cite Advance Access papers, can be found on the Advance Access Page.

Advance Access Articles By Date [View by Category]

To see an article, click its [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.

6 November 2009

Abstract Article: Matthew E. R. Butchbach, Jasbir Singh, Margrét Þorsteinsdóttir, Luciano Saieva, Elzbieta Slominski, John Thurmond, Thorkell Andrésson, Jun Zhang, Jonathan D. Edwards, Louise R. Simard, Livio Pellizzoni, Jill Jarecki, Arthur H. M. Burghes, and Mark E. Gurney
Effects of 2,4-diaminoquinazoline derivatives on SMN expression and phenotype in a mouse model for spinal muscular atrophy
Human Molecular Genetics Advance Access published on November 6, 2009.
doi:10.1093/hmg/ddp510
Accepted Manuscript [Abstract] [PDF] [Supplementary Data] [Request Permissions]

Abstract Article: Jeong K. Kim, Eunmin Kim, In C. Baek, Bong K. Kim, A-Ri Cho, Tae-Yoon Kim, Chang-Woo Song, Je K. Seong, Jong-Bok Yoon, Kurt S. Stenn, Satish Parimoo, and Sungjoo K. Yoon
Overexpression of Hr links excessive induction of Wnt signaling to Marie Unna Hereditary Hypotrichosis
Human Molecular Genetics Advance Access published on November 6, 2009.
doi:10.1093/hmg/ddp509
Accepted Manuscript [Abstract] [PDF] [Supplementary Data] [Request Permissions]

Abstract Article: Arne S. Schaefer, Gesa M. Richter, Michael Nothnagel, Thomas Manke, Henrik Dommisch, Gunnar Jacobs, Alexander Arlt, Philip Rosenstiel, Barbara Noack, Birte Groessner-Schreiber, Søren Jepsen, Bruno G. Loos, and Stefan Schreiber
A Genome-wide Association Study Identifies GLT6D1 as a Susceptibility Locus for Periodontitis
Human Molecular Genetics Advance Access published on November 6, 2009.
doi:10.1093/hmg/ddp508
Accepted Manuscript [Abstract] [PDF] [Supplementary Data] [Request Permissions]

5 November 2009

Abstract Article: Nick Patterson, Desiree C. Petersen, Richard E. van der Ross, Herawati Sudoyo, Richard H. Glashoff, Sangkot Marzuki, David Reich, and Vanessa M. Hayes
Genetic structure of a unique admixed population: implications for medical research
Human Molecular Genetics Advance Access published on November 5, 2009.
doi:10.1093/hmg/ddp505
Accepted Manuscript [Abstract] [PDF] [Supplementary Data] [Request Permissions]

Abstract Article: Joanne Betts-Henderson, Stefano Bartesaghi, Moira Crosier, Susan Lindsay, Hai-Lan Chen, Paolo Salomoni, Irene Gottlob, and Pierluigi Nicotera
The nystagmus-associated FRMD7 gene regulates neuronal outgrowth and development
Human Molecular Genetics Advance Access published on November 5, 2009.
doi:10.1093/hmg/ddp500
Accepted Manuscript [Abstract] [PDF] [Supplementary Data] [Request Permissions]

2 November 2009

Abstract Article: Sébastien Leidgens, Sébastien De Smet, and Françoise Foury
Frataxin interacts with Isu1 through a conserved tryptophan in its beta-sheet
Human Molecular Genetics Advance Access published on November 2, 2009.
doi:10.1093/hmg/ddp495
Accepted Manuscript [Abstract] [PDF] [Supplementary Data] [Request Permissions]

Abstract Article: Lyndsay M. Murray, Sheena Lee, Dirk Bäumer, Simon H. Parson, Kevin Talbot, and Thomas H. Gillingwater
Pre-symptomatic development of lower motor neuron connectivity in a mouse model of severe spinal muscular atrophy
Human Molecular Genetics Advance Access published on November 2, 2009.
doi:10.1093/hmg/ddp506
Accepted Manuscript [Abstract] [PDF] [Supplementary Data] [Request Permissions]

31 October 2009

Abstract Article: Xiao-Fei Kong, Guillaume Vogt, Ariane Chapgier, Christophe Lamaze, Jacinta Bustamante, Carolina Prando, Anny Fortin, Anne Puel, Jacqueline Feinberg, Xin-Xin Zhang, Pauline Gonnord, Ulla M. Pihkala-Saarinen, Mikko Arola, Petra Moilanen, Laurent Abel, Matti Korppi, Stéphanie Boisson-Dupuis, and Jean-Laurent Casanova
A novel form of cell type-specific partial IFN- ${gamma}$ R1 deficiency caused by a germ line mutation of the IFNGR1 initiation codon
Human Molecular Genetics Advance Access published on October 31, 2009.
doi:10.1093/hmg/ddp507
Accepted Manuscript [Abstract] [PDF] [Supplementary Data] [Request Permissions]

Abstract Article
Rebecca Hardy, Andrew K. Wills, Andrew Wong, Cathy E. Elks, Nicholas J. Wareham, Ruth J.F. Loos, Diana Kuh, and Ken K. Ong
Life course variations in the associations between FTO and MC4R gene variants and body size
Human Molecular Genetics Advance Access published on October 31, 2009.
doi:10.1093/hmg/ddp504
Accepted Manuscript [Abstract] [PDF] OPEN ACCESS ARTICLE

30 October 2009

Abstract Article: David Cunningham, Tiffany Talabere, Natalie Bir, Matthew Kennedy, Kim L. McBride, and Gail E. Herman
Significant Contributions of the Extraembryonic Membranes and Maternal Genotype to the Placental Pathology in Heterozygous Nsdhl Deficient Female Embryos
Human Molecular Genetics Advance Access published on October 30, 2009.
doi:10.1093/hmg/ddp502
Accepted Manuscript [Abstract] [PDF] [Supplementary Data] [Request Permissions]

Abstract Article: Di Sha, Lih-Shen Chin, and Lian Li
Phosphorylation of parkin by Parkinson disease-linked kinase PINK1 activates parkin E3 ligase function and NF- ${kappa}$ B signaling
Human Molecular Genetics Advance Access published on October 30, 2009.
doi:10.1093/hmg/ddp501
Accepted Manuscript [Abstract] [PDF] [Request Permissions]

29 October 2009

Abstract Article: M. D'Aurelio, C. Vives-Bauza, M.M. Davidson, and G. Manfredi
Mitochondrial DNA background modifies the bioenergetics of NARP/MILS ATP6 mutant cells
Human Molecular Genetics Advance Access published on October 29, 2009.
doi:10.1093/hmg/ddp503
Accepted Manuscript [Abstract] [PDF] [Supplementary Data] [Request Permissions]

28 October 2009

Abstract Article: Jianlin Zhang, Amanda Felder, Yujie Liu, Ling T. Guo, Stephan Lange, Nancy D. Dalton, Yusu Gu, Kirk L. Peterson, Andrew P. Mizisin, G. Diane Shelton, Richard L. Lieber, and Ju Chen
Nesprin 1 is critical for nuclear positioning and anchorage
Human Molecular Genetics Advance Access published on October 28, 2009.
doi:10.1093/hmg/ddp499
Accepted Manuscript [Abstract] [PDF] [Supplementary Data] [Request Permissions]

Abstract Article
Stuart Rabin, Jae Mun "Hugo" Kim, Michael Baughn, Ryan T. Libby, Young Joo Kim, Yuxin Fan, Randell T. Libby, Albert La Spada, Brad Stone, and John Ravits
SPORADIC ALS HAS COMPARTMENT-SPECIFIC ABERRANT EXON SPLICING AND ALTERED CELL-MATRIX ADHESION BIOLOGY
Human Molecular Genetics Advance Access published on October 28, 2009.
doi:10.1093/hmg/ddp498
Accepted Manuscript [Abstract] [PDF] [Supplementary Data] OPEN ACCESS ARTICLE

Abstract Article: Dolores Garcia-Arocena, Jane E. Yang, Judith R. Brouwer, Flora Tassone, Christine Iwahashi, Elizabeth M. Berry-Kravis, Christopher G. Goetz, Allison M. Sumis, Lili Zhou, Danh V. Nguyen, Luis Campos, Erin Howell, Anna Ludwig, Claudia Greco, Rob Willemsen, Randi J. Hagerman, and Paul J. Hagerman
Fibroblast phenotype in male carriers of FMR1 premutation alleles
Human Molecular Genetics Advance Access published on October 28, 2009.
doi:10.1093/hmg/ddp497
Accepted Manuscript [Abstract] [PDF] [Supplementary Data] [Request Permissions]

Abstract Article: Ming Ye, Karyn M. Berry-Wynne, Mika Asai-Coakwell, Periasamy Sundaresan, Tim Footz, Curtis R. French, Marc Abitbol, Valerie C. Fleisch, Nathan Corbett, W. Ted Allison, Garry Drummond, Michael A. Walter, T. Michael Underhill, Andrew J. Waskiewicz, and Ordan J. Lehmann
Mutation of the Bone Morphogenetic Protein GDF3 causes ocular and skeletal anomalies
Human Molecular Genetics Advance Access published on October 28, 2009.
doi:10.1093/hmg/ddp496
Accepted Manuscript [Abstract] [PDF] [Request Permissions]

Abstract Article: Francisco J. del Castillo, Martine Cohen-Salmon, Anne Charollais, Dorothée Caille, Paul D. Lampe, Philippe Chavrier, Paolo Meda, and Christine Petit
CONSORTIN, A TRANS-GOLGI NETWORK CARGO RECEPTOR FOR THE PLASMA MEMBRANE TARGETING AND RECYCLING OF CONNEXINS
Human Molecular Genetics Advance Access published on October 28, 2009.
doi:10.1093/hmg/ddp490
Accepted Manuscript [Abstract] [PDF] [Supplementary Data] [Request Permissions]

27 October 2009

Abstract Article: Pim van der Harst, Stephan J.L. Bakker, Rudolf A. de Boer, Bruce H.R. Wolffenbuttel, Toby Johnson, Mark J. Caulfield, and Gerjan Navis
Replication of the 5 Novel Loci for Uric Acid Concentrations and Potential Mediating Mechanisms
Human Molecular Genetics Advance Access published on October 27, 2009.
doi:10.1093/hmg/ddp489
Accepted Manuscript [Abstract] [PDF] [Supplementary Data] [Request Permissions]

21 October 2009

Abstract Article: Weizhong Chang, Aileen M. Barnes, Wayne A. Cabral, Joann N. Bodurtha, and Joan C. Marini
Prolyl 3-Hydroxylase 1 and CRTAP are Mutually Stabilizing in the Endoplasmic Reticulum Collagen Prolyl 3-Hydroxylation Complex
Human Molecular Genetics Advance Access published on October 21, 2009.
doi:10.1093/hmg/ddp481
Accepted Manuscript [Abstract] [PDF] [Supplementary Data] [Request Permissions]

Abstract Article: Yucui Chen, Flora Tassone, Robert F. Berman, Paul J. Hagerman, Randi J. Hagerman, Rob Willemsen, and Isaac N. Pessah
Murine Hippocampal Neurons Expressing Fmr1 gene Premutations Show Early Developmental Deficits and Late Degeneration
Human Molecular Genetics Advance Access published on October 21, 2009.
doi:10.1093/hmg/ddp479
Accepted Manuscript [Abstract] [PDF] [Request Permissions]

20 October 2009

Abstract Article: Sacha Reichman, Ravi Kiran Reddy Kalathur, Sophie Lambard, Najate Ait-Ali, Yanjiang Yang, Aurélie Lardenois, Raymond Ripp, Olivier Poch, Donald J. Zack, José-Alain Sahel, and Thierry Léveillard
THE HOMEOBOX GENE CHX10/VSX2 REGULATES RDCVF PROMOTER ACTIVITY IN THE INNER RETINA
Human Molecular Genetics Advance Access published on October 20, 2009.
doi:10.1093/hmg/ddp484
Accepted Manuscript [Abstract] [PDF] [Supplementary Data] [Request Permissions]

Abstract Article
Deepak Adhikari, Wenjing Zheng, Yan Shen, Nagaraju Gorre, Tuula Hämäläinen, Austin J. Cooney, Ilpo Huhtaniemi, Zi-Jian Lan, and Kui Liu
Tsc/mTORC1 signaling in oocytes governs the quiescence and activation of primordial follicles
Human Molecular Genetics Advance Access published on October 20, 2009.
doi:10.1093/hmg/ddp483
Accepted Manuscript [Abstract] [PDF] OPEN ACCESS ARTICLE

19 October 2009

Abstract Article: Christopher P. Reina, Xiaoyan Zhong, and Randall N. Pittman
Proteotoxic stress increases nuclear localization of ataxin-3
Human Molecular Genetics Advance Access published on October 19, 2009.
doi:10.1093/hmg/ddp482
Accepted Manuscript [Abstract] [PDF] [Supplementary Data] [Request Permissions]

Abstract Article: Christoph Loenarz, Wei Ge, Mathew L. Coleman, Nathan R. Rose, Christopher D. O. Cooper, Robert J. Klose, Peter J. Ratcliffe, and Christopher J. Schofield
PHF8, a gene associated with cleft lip/palate and mental retardation, encodes for an N-dimethyl lysine demethylase
Human Molecular Genetics Advance Access published on October 19, 2009.
doi:10.1093/hmg/ddp480
Accepted Manuscript [Abstract] [PDF] [Supplementary Data] [Request Permissions]

Abstract Article: Alexandre Janer, Andreas Werner, Junko Takahashi-Fujigasaki, Aurélie Daret, Hiroto Fujigasaki, Koji Takada, Charles Duyckaerts, Alexis Brice, Anne Dejean, and Annie Sittler
SUMOylation attenuates the aggregation propensity and cellular toxicity of the polyglutamine expanded ataxin-7
Human Molecular Genetics Advance Access published on October 19, 2009.
doi:10.1093/hmg/ddp478
Accepted Manuscript [Abstract] [PDF] [Supplementary Data] [Request Permissions]

16 October 2009

Abstract Article: Hua Yang, Sonja Brosel, Rebeca Acin-Perez, Vesna Slavkovich, Ichizo Nishino, Raffay Khan, Ira J. Goldberg, Joseph Graziano, Giovanni Manfredi, and Eric A. Schon
Analysis of mouse models of cytochrome c oxidase deficiency due to mutations in Sco2
Human Molecular Genetics Advance Access published on October 16, 2009.
doi:10.1093/hmg/ddp477
Accepted Manuscript [Abstract] [PDF] [Supplementary Data] [Request Permissions]

Abstract Article
Amy S. Leonardson, Jun Zhu, Yanqing Chen, Kai Wang, John R. Lamb, Marc Reitman, Valur Emilsson, and Eric E. Schadt
The effect of food intake on gene expression in human peripheral blood
Human Molecular Genetics Advance Access published on October 16, 2009.
doi:10.1093/hmg/ddp476
Accepted Manuscript [Abstract] [PDF] [Supplementary Data] OPEN ACCESS ARTICLE

Abstract Article: Marie-Anne Colle, Françoise Piguet, Lise Bertrand, Sylvie Raoul, Ivan Bieche, Laurence Dubreil, Didi Sloothaak, Céline Bouquet, Philippe Moullier, Patrick Aubourg, Yan Cherel, Nathalie Cartier, and Caroline Sevin
EFFICIENT INTRACEREBRAL DELIVERY OF AAV5 VECTOR ENCODING HUMAN ARSA IN NON-HUMAN PRIMATE
Human Molecular Genetics Advance Access published on October 16, 2009.
doi:10.1093/hmg/ddp475
Accepted Manuscript [Abstract] [PDF] [Request Permissions]

13 October 2009

Abstract Article
Maikel L. Colli, Fabrice Moore, Esteban N. Gurzov, Fernanda Ortis, and Decio L. Eizirik
MDA5 and PTPN2, two candidate genes for type 1 diabetes, modify pancreatic β-cell responses to the viral by-product double stranded RNA
Human Molecular Genetics Advance Access published on October 13, 2009.
doi:10.1093/hmg/ddp474
Accepted Manuscript [Abstract] [PDF] [Supplementary Data] OPEN ACCESS ARTICLE

CORRIGENDUM: Catherine Deveault, Jian Hua Qian, Wafaa Chebaro, Asangla Ao, Lucy Gilbert, Amira Mehio, Rabia Khan, Seang Lin Tan, Anita Wischmeijer, Philippe Coullin, Xing Xie, and Rima Slim
NLRP7 mutations in women with diploid androgenetic and triploid moles: a proposed mechanism for mole formation
Human Molecular Genetics Advance Access published on October 13, 2009.
doi:10.1093/hmg/ddp461
Accepted Manuscript [Extract] [Full Text] [PDF] [Request Permissions]

CORRIGENDUM: Neil Ashley, Anthony O'Rourke, Conrad Smith, Susan Adams, Vasantha Gowda, Massimo Zeviani, Garry K. Brown, Carl Fratter, and Joanna Poulton
Depletion of mitochondrial DNA in fibroblast cultures from patients with POLG1 mutations is a consequence of catalytic mutations
Human Molecular Genetics Advance Access published on October 13, 2009.
doi:10.1093/hmg/ddp458
Accepted Manuscript [Extract] [Full Text] [PDF] [Request Permissions]

Abstract Article
Graham A. Heap, Jennie H.M. Yang, Kate Downes, Barry C. Healy, Karen A. Hunt, Nicholas Bockett, Lude Franke, Patrick C. Dubois, Charles A. Mein, Richard J. Dobson, Thomas J. Albert, Matthew J. Rodesch, David G. Clayton, John A. Todd, David A. van Heel, and Vincent Plagnol
Genome-wide analysis of allelic expression imbalance in human primary cells by high throughput transcriptome resequencing
Human Molecular Genetics Advance Access published on October 13, 2009.
doi:10.1093/hmg/ddp473
Accepted Manuscript [Abstract] [PDF] [Supplementary Data] OPEN ACCESS ARTICLE

Abstract Article: Laura A. Hecker, Albert O. Edwards, Euijung Ryu, Nirubol Tosakulwong, Keith H. Baratz, William L. Brown, Peter Charbel Issa, Hendrik P. Scholl, Beatrix Pollok-Kopp, Katharina E. Schmid-Kubista, Kent R. Bailey, and Martin Oppermann
Genetic control of the alternative pathway of complement in humans and age-related macular degeneration
Human Molecular Genetics Advance Access published on October 13, 2009.
doi:10.1093/hmg/ddp472
Accepted Manuscript [Abstract] [PDF] [Supplementary Data] [Request Permissions]

Abstract Article: Keikichi Takahashi, Kayo Adachi, Kaichi Yoshizaki, Shohko Kunimoto, Raj N. Kalaria, and Atsushi Watanabe
Mutations in NOTCH3 cause the formation and retention of aggregates in the endoplasmic reticulum, leading to impaired cell proliferation
Human Molecular Genetics Advance Access published on October 13, 2009.
doi:10.1093/hmg/ddp468
Accepted Manuscript [Abstract] [PDF] [Supplementary Data] [Request Permissions]

12 October 2009

Abstract Article
Kirupa Sathasivam, Amin Lane, Justin Legleiter, Alice Warley, Ben Woodman, Steve Finkbeiner, Paolo Paganetti, Paul J. Muchowski, Stuart Wilson, and Gillian P. Bates
Identical oligomeric and fibrillar structures captured from the brains of R6/2 and knock-in mouse models of Huntington's disease
Human Molecular Genetics Advance Access published on October 12, 2009.
doi:10.1093/hmg/ddp467
Accepted Manuscript [Abstract] [PDF] OPEN ACCESS ARTICLE

8 October 2009

Abstract Article: Gerard Cantero-Recasens, César Fandos, Fanny Rubio-Moscardo, Miguel A. Valverde, and Rubén Vicente
The asthma-associated ORMDL3 gene product regulates endoplasmic reticulum-mediated calcium signaling and cellular stress
Human Molecular Genetics Advance Access published on October 8, 2009.
doi:10.1093/hmg/ddp471
Accepted Manuscript [Abstract] [PDF] [Supplementary Data] [Request Permissions]

Abstract Article: Aparna Palakodeti, Isabelle Lucas, Yanwen Jiang, David J. Young, Anthony A. Fernald, Theodore Karrison, and Michelle M. Le Beau
Impaired Replication Dynamics at the FRA3B Common Fragile Site
Human Molecular Genetics Advance Access published on October 8, 2009.
doi:10.1093/hmg/ddp470
Accepted Manuscript [Abstract] [PDF] [Supplementary Data] [Request Permissions]

Abstract Article: Amiya K. Ghosh, Carlos A. Murga-Zamalloa, Lansze Chan, Peter F. Hitchcock, Anand Swaroop, and Hemant Khanna
Human retinopathy-associated ciliary protein Retinitis Pigmentosa GTPase Regulator (RPGR) regulates cilia-dependent vertebrate development
Human Molecular Genetics Advance Access published on October 8, 2009.
doi:10.1093/hmg/ddp469
Accepted Manuscript [Abstract] [PDF] [Supplementary Data] [Request Permissions]

6 October 2009

Abstract Article
Katarzyna A. Piróg, Oihane Jaka, Yoshihisa Katakura, Roger S. Meadows, Karl E. Kadler, Raymond P. Boot-Handford, and Michael D. Briggs
A mouse model offers novel insight into the myopathy and tendinopathy that is often associated with pseudoachondroplasia and multiple epiphyseal dysplasia
Human Molecular Genetics Advance Access published on October 6, 2009.
doi:10.1093/hmg/ddp466
Accepted Manuscript [Abstract] [PDF] [Supplementary Data] OPEN ACCESS ARTICLE

4 October 2009

Abstract Article: Brenna A. Market-Velker, Liyue Zhang, Lauren S. Magri, Anne C. Bonvissuto, and Mellissa R.W. Mann
Dual Effects of Superovulation: Loss of maternal and paternal imprinted methylation in a dose-dependent manner
Human Molecular Genetics Advance Access published on October 4, 2009.
doi:10.1093/hmg/ddp465
Accepted Manuscript [Abstract] [PDF] [Supplementary Data] [Request Permissions]

3 October 2009

Abstract Article
Lihong Zhao, Christine Rosales, Kevin Seburn, David Ron, and Susan L. Ackerman
Alteration of the Unfolded Protein Response Modifies Neurodegeneration in a Mouse Model of Marinesco-Sjögren Syndrome
Human Molecular Genetics Advance Access published on October 3, 2009.
doi:10.1093/hmg/ddp464
Accepted Manuscript [Abstract] [PDF] [Supplementary Data] OPEN ACCESS ARTICLE

Abstract Article: Hongyu Gao, Yan Wang, Tomasz Wegierski, Kassiani Skouloudaki, Michael Pütz, Xiao Fu, Christina Engel, Christopher Boehlke, Hongquan Peng, E. Wolfgang Kühn, Emily Kim, Albrecht Kramer-Zucker, and Gerd Walz
PRKCSH/80K-H, the protein mutated in polycystic liver disease, protects polycystin-2/TRPP2 against HERP-mediated degradation
Human Molecular Genetics Advance Access published on October 3, 2009.
doi:10.1093/hmg/ddp463
Accepted Manuscript [Abstract] [PDF] [Supplementary Data] [Request Permissions]

30 September 2009

Abstract Article: Julien Ratelade, Christelle Arrondel, Ghislaine Hamard, Serge Garbay, Scott Harvey, Nathalie Biebuyck, Herbert Schulz, Nick Hastie, Marco Pontoglio, Marie-Claire Gubler, Corinne Antignac, and Laurence Heidet
A MURINE MODEL OF DENYS-DRASH SYNDROME REVEALS NOVEL TRANSCRIPTIONAL TARGETS OF WT1 IN PODOCYTES
Human Molecular Genetics Advance Access published on September 30, 2009.
doi:10.1093/hmg/ddp462
Accepted Manuscript [Abstract] [PDF] [Supplementary Data] [Request Permissions]

29 September 2009

Abstract Article
Cole J. Ferguson, Guy M. Lenk, and Miriam H. Meisler
Defective autophagy in neurons and astrocytes from mice deficient in PI(3,5)P₂
Human Molecular Genetics Advance Access published on September 29, 2009.
doi:10.1093/hmg/ddp460
Accepted Manuscript [Abstract] [PDF] [Supplementary Data] OPEN ACCESS ARTICLE

Abstract Article: Yang Li, Wen-Jing Wang, Huiqing Cao, Jiehua Lu, Chong Wu, Fang-Yuan Hu, Jian Guo, Ling Zhao, Fan Yang, Yi-Xin Zhang, Wei Li, Gu-Yan Zheng, Hanbin Cui, Xiaomin Chen, Zhiming Zhu, Hongbo He, Birong Dong, Xianming Mo, Yi Zeng, and Xiao-Li Tian
Genetic association of FOXO1A and FOXO3A with longevity trait in Han Chinese populations
Human Molecular Genetics Advance Access published on September 29, 2009.
doi:10.1093/hmg/ddp459
Accepted Manuscript [Abstract] [PDF] [Supplementary Data] [Request Permissions]

Abstract Article
Tanya L. Henshall, Ben Tucker, Amanda L. Lumsden, Svanhild Nornes, Michael T. Lardelli, and Robert I. Richards
Selective neuronal requirement for Huntingtin in the developing zebrafish
Human Molecular Genetics Advance Access published on September 29, 2009.
doi:10.1093/hmg/ddp455
Accepted Manuscript [Abstract] [PDF] OPEN ACCESS ARTICLE

26 September 2009

Abstract Article
Patricia Lopes Pereira, Laetitia Magnol, Ignasi Sahún, Véronique Brault, Arnaud Duchon, Paola Prandini, Agnès Gruart, Jean-Charles Bizot, Bernadette Chadefaux-Vekemans, Samuel Deutsch, Fabrice Trovero, José María Delgado-García, Stylianos E. Antonarakis, Mara Dierssen, and Yann Herault
A NEW MOUSE MODEL FOR THE TRISOMY OF THE ABCG1-U2AF1 REGION REVEALS THE COMPLEXITY OF THE COMBINATORIAL GENETIC CODE OF DOWN SYNDROME
Human Molecular Genetics Advance Access published on September 26, 2009.
doi:10.1093/hmg/ddp438
Accepted Manuscript [Abstract] [PDF] [Supplementary Data] OPEN ACCESS ARTICLE

25 September 2009

Abstract Article: Fuli Yu, Alon Keinan, Hua Chen, Russell J. Ferland, Robert S. Hill, Andre A. Mignault, Christopher A. Walsh, and David Reich
Detecting natural selection by empirical comparison to random regions of the genome
Human Molecular Genetics Advance Access published on September 25, 2009.
doi:10.1093/hmg/ddp457
Accepted Manuscript [Abstract] [PDF] [Supplementary Data] [Request Permissions]

Abstract Article
Joonil Jung, Kexiang Xu, Derek Lessing, and Nancy M. Bonini
Preventing Ataxin-3 protein cleavage mitigates degeneration in a Drosophila model of SCA-3
Human Molecular Genetics Advance Access published on September 25, 2009.
doi:10.1093/hmg/ddp456
Accepted Manuscript [Abstract] [PDF] [Supplementary Data] OPEN ACCESS ARTICLE

24 September 2009

Abstract Article: Lina M. Moreno, Maria Adela Mansilla, Steve A. Bullard, Margaret E. Cooper, Tamara D. Busch, Junichiro Machida, Marla. K. Johnson, David Brauer, Katherine Krahn, Sandy Daack-Hirsch, Jamie L'Heureux, Consuelo Valencia-Ramirez, Dora Rivera, Ana Maria López, Manuel A. Moreno, Anne Hing, Edward J. Lammer, Marilyn Jones, Kaare Christensen, Rolv T. Lie, Astanand Jugessur, Allen J. Wilcox, Peter Chines, Elizabeth Pugh, Kim Doheny, Mauricio Arcos-Burgos, Mary L. Marazita, Jeffrey C. Murray, and Andrew C. Lidral
FOXE1 Association with both Isolated Cleft Lip with or without Cleft Palate; and Isolated Cleft Palate
Human Molecular Genetics Advance Access published on September 24, 2009.
doi:10.1093/hmg/ddp444
Accepted Manuscript [Abstract] [PDF] [Supplementary Data] [Request Permissions]

23 September 2009

Abstract Article: Nilva K. Cervigne, Patricia P. Reis, Jerry Machado, Bekim Sadikovic, Grace Bradley, Natalie N. Galloni, Melania Pintilie, Igor Jurisica, Ralph Gilbert, Patrick Gullane, Jonathan Irish, and Suzanne Kamel-Reid
Identification of a microRNA signature associated with progression of leukoplakia to oral carcinoma
Human Molecular Genetics Advance Access published on September 23, 2009.
doi:10.1093/hmg/ddp446
Accepted Manuscript [Abstract] [PDF] [Supplementary Data] [Request Permissions]

Abstract Article: Hyang-Min Byun, Kimberly D. Siegmund, Fei Pan, Daniel J. Weisenberger, Gary Kanel, Peter W. Laird, and Allen S. Yang
Epigenetic profiling of somatic tissues from human autopsy specimens identifies tissue- and individual-specific DNA methylation patterns
Human Molecular Genetics Advance Access published on September 23, 2009.
doi:10.1093/hmg/ddp445
Accepted Manuscript [Abstract] [PDF] [Supplementary Data] [Request Permissions]

Abstract Article
Glen M. Borchert, Brian L. Gilmore, Ryan M. Spengler, Yi Xing, William Lanier, Debashish Bhattacharya, and Beverly L. Davidson
Adenosine deamination in human transcripts generates novel microRNA binding sites
Human Molecular Genetics Advance Access published on September 23, 2009.
doi:10.1093/hmg/ddp443
Accepted Manuscript [Abstract] [PDF] [Supplementary Data] OPEN ACCESS ARTICLE

22 September 2009

Abstract Article: Alice R. Clark, Gregory M. Sawyer, Stephen P. Robertson, and Andrew J. Sutherland-Smith
Skeletal dysplasias due to filamin A mutations result from a gain-of-function mechanism distinct from allelic neurological disorders
Human Molecular Genetics Advance Access published on September 22, 2009.
doi:10.1093/hmg/ddp442
Accepted Manuscript [Abstract] [PDF] [Supplementary Data] [Request Permissions]

17 September 2009

Abstract Article: Xi-Qin Ding, Cynthia S. Harry, Yumiko Umino, Alexander V. Matveev, Steven J. Fliesler, and Robert B. Barlow
Impaired Cone Function and Cone Degeneration Resulting from CNGB3 Deficiency: Down-regulation of CNGA3 Biosynthesis as a Potential Mechanism
Human Molecular Genetics Advance Access published on September 17, 2009.
doi:10.1093/hmg/ddp440
Accepted Manuscript [Abstract] [PDF] [Request Permissions]

16 September 2009

Abstract Article: Priya S. Kishnani, Tzu-Po Chuang, Deeksha Bali, Dwight Koeberl, Stephanie Austin, David A. Weinstein, Elaine Murphy, Ying-Ting Chen, Keri Boyette, Chu-Hao Liu, Yuan-Tsong Chen, and Ling-Hui Li
Chromosomal and genetic alterations in human hepatocellular adenomas associated with type Ia glycogen storage disease
Human Molecular Genetics Advance Access published on September 16, 2009.
doi:10.1093/hmg/ddp441
Accepted Manuscript [Abstract] [PDF] [Supplementary Data] [Request Permissions]

Abstract Article: Xinhua Yu, Lena Wester-Rosenlöf, Ulrike Gimsa, Stephanie-Anna Holzhueter, Andreia Marques, Ludwig Jonas, Kristin Bauer, Manfred Kunz, Horst Nizze, Markus Tiedge, Rikard Holmdahl, and Saleh M. Ibrahim
The mtDNA nt7778 G/T polymorphism affects autoimmune diseases and reproductive performance in the mouse
Human Molecular Genetics Advance Access published on September 16, 2009.
doi:10.1093/hmg/ddp432
Accepted Manuscript [Abstract] [PDF] [Supplementary Data] [Request Permissions]

15 September 2009

Abstract Article: Sylvie Grandemange, Stephan Soler, and Isabelle Touitou
Expression of the familial Mediterranean fever (FMF) gene is regulated by nonsense-mediated decay (NMD)
Human Molecular Genetics Advance Access published on September 15, 2009.
doi:10.1093/hmg/ddp437
Accepted Manuscript [Abstract] [PDF] [Supplementary Data] [Request Permissions]

14 September 2009

Abstract Article
Daniel Tattersall, Claire A. Scott, Colin Gray, Daniel Zicha, and David P. Kelsell
EKV mutant Connexin 31 associated cell death is mediated by ER stress
Human Molecular Genetics Advance Access published on September 14, 2009.
doi:10.1093/hmg/ddp436
Accepted Manuscript [Abstract] [PDF] [Supplementary Data] OPEN ACCESS ARTICLE

Abstract Article: Salah Azzi, Sylvie Rossignol, Virginie Steunou, Theo Sas, Nathalie Thibaud, Fabienne Danton, Marilyne Le Jule, Claudine Heinrichs, Sylvie Cabrol, Christine Gicquel, Yves Le Bouc, and Irene Netchine
Multilocus methylation analysis in a large cohort of 11p15-related foetal growth disorders (Russell Silver and Beckwith Wiedemann syndromes) reveals simultaneous loss of methylation at paternal and maternal imprinted loci
Human Molecular Genetics Advance Access published on September 14, 2009.
doi:10.1093/hmg/ddp435
Accepted Manuscript [Abstract] [PDF] [Supplementary Data] [Request Permissions]

Abstract Article
Marion Delous, Nathan E. Hellman, Hélori-Maël Gaudé, Flora Silbermann, André Le Bivic, Rémi Salomon, Corinne Antignac, and Sophie Saunier
Nephrocystin-1 and nephrocystin-4 are required for epithelial morphogenesis and associate with PALS1/PATJ and Par6
Human Molecular Genetics Advance Access published on September 14, 2009.
doi:10.1093/hmg/ddp434
Accepted Manuscript [Abstract] [PDF] [Supplementary Data] OPEN ACCESS ARTICLE

10 September 2009

Abstract Article: Tõnis Org, Ana Rebane, Kai Kisand, Martti Laan, Uku Haljasorg, Reidar Andreson, and Pärt Peterson
AIRE activated tissue specific genes have histone modifications associated with inactive chromatin
Human Molecular Genetics Advance Access published on September 10, 2009.
doi:10.1093/hmg/ddp433
Accepted Manuscript [Abstract] [PDF] [Supplementary Data] [Request Permissions]

4 April 2007

Article: This article was published online in error and has been removed by the publisher.
Human Molecular Genetics Advance Access originally published on April 4, 2007. This version published May 3, 2007.
doi:10.1093/hmg/ddm077
Accepted Manuscript [PDF] [Request Permissions]