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

Human Molecular Genetics Advance Access

Human Molecular Genetics Advance Access articles are papers in manuscript form that have been accepted by the journal but have not been copyedited or formatted for publication. Copyediting may lead to minor differences between the Advance Access version and the final version of the paper; there may also be differences in the quality of the graphics. 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 accepted manuscript, click its [Accepted Manuscript] 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.

3 July 2009

Abstract Article: 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.
doi:10.1093/hmg/ddp306
[Abstract] [Accepted Manuscript] [Supplementary Data] [Request Permissions]

2 July 2009

Abstract Article: 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.
doi:10.1093/hmg/ddp302
[Abstract] [Accepted Manuscript] [Supplementary Data] [Request Permissions]

1 July 2009

Abstract Article
Karol Estrada, Michael Krawczak, Stefan Schreiber, Kate van Duijn, Lisette Stolk, Joyce B.J. van Meurs, Fan Liu, Brenda W.J.H. Penninx, Jan H. Smit, Nicole Vogelzangs, Jouke Jan Hottenga, Gonneke Willemsen, Eco J.C. de Geus, Mattias Lorentzon, Huberta von Eller-Eberstein, Paul Lips, Natascha Schoor, Victor Pop, Jules de Keijzer, Albert Hofman, Yurii S. Aulchenko, Ben A. Oostra, Claes Ohlsson, Dorret I. Boomsma, Andre G. Uitterlinden, Cornelia M. van Duijn, Fernando Rivadeneira, and Manfred Kayser
A genome-wide association study of northwestern Europeans involves the CNP signaling pathway in the etiology of human height variation
Human Molecular Genetics Advance Access published on July 1, 2009.
doi:10.1093/hmg/ddp296
[Abstract] [Accepted Manuscript] [Supplementary Data] OPEN ACCESS ARTICLE

30 June 2009

Abstract Article: 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.
doi:10.1093/hmg/ddp300
[Abstract] [Accepted Manuscript] [Supplementary Data] [Request Permissions]

29 June 2009

Abstract Article: Shepherd H. Schurman, Mohammad Hedayati, ZhengMing Wang, Dharmendra K. Singh, Elzbieta Speina, Yongqing Zhang, Kevin Becker, Margaret Macris, Patrick Sung, David M. Wilson III, Deborah L. Croteau, and Vilhelm A. Bohr
Direct and Indirect Roles of RECQL4 in Modulating Base Excision Repair Capacity
Human Molecular Genetics Advance Access published on June 29, 2009.
doi:10.1093/hmg/ddp291
[Abstract] [Accepted Manuscript] [Supplementary Data] [Request Permissions]

27 June 2009

Abstract Article: Adriana Malena, Emanuele Loro, Miriam Di Re, Ian J. Holt, and Lodovica Vergani
Inhibition of Mitochondrial Fission Favours Mutant Over Wild-type Mitochondrial DNA
Human Molecular Genetics Advance Access published on June 27, 2009.
doi:10.1093/hmg/ddp281
[Abstract] [Accepted Manuscript] [Supplementary Data] [Request Permissions]

26 June 2009

Abstract Article: 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 ${gamma}$ , 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.
doi:10.1093/hmg/ddp298
[Abstract] [Accepted Manuscript] [Supplementary Data] [Request Permissions]

Abstract Article: Sietske T. Bakker, Henri J. van de Vrugt, Martin A. Rooimans, Anneke B. Oostra, Jurgen Steltenpool, Elly Delzenne-Goette, Anja van der Wal, Martin van der Valk, Hans Joenje, Hein te Riele, and Johan P. de Winter
Fancm-deficient mice reveal unique features of Fanconi anemia complementation group M
Human Molecular Genetics Advance Access published on June 26, 2009.
doi:10.1093/hmg/ddp297
[Abstract] [Accepted Manuscript] [Supplementary Data] [Request Permissions]

25 June 2009

Abstract Article: Qibin Qi, Huaixing Li, Ruth J.F. Loos, Chen Liu, Ying Wu, Frank B. Hu, Hongyu Wu, Ling Lu, Zhijie Yu, and Xu Lin
Common variants in KCNQ1 are associated with type 2 diabetes and impaired fasting glucose in a Chinese Han population
Human Molecular Genetics Advance Access published on June 25, 2009.
doi:10.1093/hmg/ddp294
[Abstract] [Accepted Manuscript] [Supplementary Data] [Request Permissions]

24 June 2009

Abstract Article: David M. Evans, Peter M. Visscher, and Naomi R. Wray
Harnessing the Information Contained Within Genome-wide Association Studies to Improve Individual Prediction of Complex Disease Risk
Human Molecular Genetics Advance Access published on June 24, 2009.
doi:10.1093/hmg/ddp295
[Abstract] [Accepted Manuscript] [Supplementary Data] [Request Permissions]

Abstract Article: Chris Cotsapas, Elizabeth K. Speliotes, Ida J. Hatoum, Danielle M. Greenawalt, Radu Dobrin, Pek Y. Lum, Christine Suver, Eugene Chudin, Daniel Kemp, Marc Reitman, Benjamin F. Voight, Benjamin M. Neale, the GIANT Consortium, Eric E. Schadt, Joel N. Hirschhorn, Lee M. Kaplan, and Mark J. Daly
Common BMI-associated variants confer risk of extreme obesity
Human Molecular Genetics Advance Access published on June 24, 2009.
doi:10.1093/hmg/ddp292
[Abstract] [Accepted Manuscript] [Supplementary Data] [Request Permissions]

23 June 2009

Abstract Article: Stephen T. Bradford, Dagmar Wilhelm, Roberto Bandiera, Valerie Vidal, Andreas Schedl, and Peter Koopman
A cell-autonomous role for WT1 in regulating Sry in vivo
Human Molecular Genetics Advance Access published on June 23, 2009.
doi:10.1093/hmg/ddp283
[Abstract] [Accepted Manuscript] [Request Permissions]

Abstract Article: Agustín Tortajada, Tamara Montes, Ruben Martinez-Barricarte, B. Paul Morgan, Claire L. Harris, and Santiago Rodríguez de Córdoba
The disease-protective complement factor H allotypic variant Ile62 shows increased binding affinity for C3b and enhanced cofactor activity
Human Molecular Genetics Advance Access published on June 23, 2009.
doi:10.1093/hmg/ddp289
[Abstract] [Accepted Manuscript] [Request Permissions]

19 June 2009

Abstract Article: Thorsten Mueller, Peter Breuer, Ina Schmitt, Bernd O. Evert, and Ullrich Wüllner
CK2-Dependent Phosphorylation Determines Cellular Localization and Stability of Ataxin-3
Human Molecular Genetics Advance Access published on June 19, 2009.
doi:10.1093/hmg/ddp274
[Abstract] [Accepted Manuscript] [Supplementary Data] [Request Permissions]

Abstract Article: Ruben Attali, Nasim Warwar, Ariel Israel, Irina Gurt, Elizabeth McNally, Megan Puckelwartz, Benjamin Glick, Yoram Nevo, Ziva Ben-Neriah, and Judith Melki
Mutation of SYNE-1, encoding an essential component of the nuclear lamina, is responsible for autosomal recessive arthrogryposis
Human Molecular Genetics Advance Access published on June 19, 2009.
doi:10.1093/hmg/ddp290
[Abstract] [Accepted Manuscript] [Request Permissions]

Abstract Article: Michelle Wehling-Henricks, Meredith Oltmann, Chiara Rinaldi, Kyu H. Myung, and James G. Tidball
Loss of positive allosteric interactions between neuronal nitric oxide synthase and phosphofructokinase contribute to defects in glycolysis and increased fatigability in muscular dystrophy
Human Molecular Genetics Advance Access published on June 19, 2009.
doi:10.1093/hmg/ddp288
[Abstract] [Accepted Manuscript] [Request Permissions]

Abstract Article: Michael W. Killen, Dawn M. Stults, Noritaka Adachi, Les Hanakahi, and Andrew J. Pierce
Loss of Bloom syndrome protein destabilizes human gene cluster architecture
Human Molecular Genetics Advance Access published on June 19, 2009.
doi:10.1093/hmg/ddp282
[Abstract] [Accepted Manuscript] [Supplementary Data] [Request Permissions]

15 June 2009

Abstract Article
Tuomas O. Kilpeläinen, Sheila A Bingham, Kay-Tee Khaw, Nicholas J. Wareham, and Ruth J.F. Loos
Association of variants in the PCSK1 gene with obesity in the EPIC-Norfolk Study
Human Molecular Genetics Advance Access published on June 15, 2009.
doi:10.1093/hmg/ddp280
[Abstract] [Accepted Manuscript] OPEN ACCESS ARTICLE

12 June 2009

Abstract Article: Rolf J.R.J. Janssen, Felix Distelmaier, Roel Smeets, Tessa Wijnhoven, Elsebet Østergaard, Nicolaas G.J. Jaspers, Anja Raams, Stephan Kemp, Richard J.T. Rodenburg, Peter H.M.G. Willems, Lambert P.W.J. van den Heuvel, Jan A.M. Smeitink, and Leo G.J. Nijtmans
Contiguous gene deletion of ELOVL7, ERCC8, and NDUFAF2 in a patient with a fatal multisystem disorder
Human Molecular Genetics Advance Access published on June 12, 2009.
doi:10.1093/hmg/ddp276
[Abstract] [Accepted Manuscript] [Request Permissions]

11 June 2009

Abstract Article: Hiroki Kurahashi, Hidehito Inagaki, Takema Kato, Eriko Hosoba, Hiroshi Kogo, Tamae Ohye, Makiko Tsutsumi, Hasbaira Bolor, Maoqing Tong, and Beverly S. Emanuel
Impaired DNA replication prompts deletions within palindromic sequences, but does not induce translocations in human cells
Human Molecular Genetics Advance Access published on June 11, 2009.
doi:10.1093/hmg/ddp279
[Abstract] [Accepted Manuscript] [Supplementary Data] [Request Permissions]

10 June 2009

Abstract Article: Amila Suraweera, YiChieh Lim, Rick Woods, Geoff W. Birrell, Talat Nasim, Olivier J. Becherel, and Martin F. Lavin
Functional role for senataxin, defective in ataxia oculomotor apraxia type 2, in transcriptional regulation
Human Molecular Genetics Advance Access published on June 10, 2009.
doi:10.1093/hmg/ddp278
[Abstract] [Accepted Manuscript] [Supplementary Data] [Request Permissions]

Abstract Article: Amandine Henckel, Kazuhiko Nakabayashi, Lionel A. Sanz, Robert Feil, Kenichiro Hata, and Philippe Arnaud
Histone methylation is mechanistically linked to DNA methylation at imprinting control regions in mammals
Human Molecular Genetics Advance Access published on June 10, 2009.
doi:10.1093/hmg/ddp277
[Abstract] [Accepted Manuscript] [Supplementary Data] [Request Permissions]

Abstract Article: Takashi Nonaka, Fuyuki Kametani, Tetsuaki Arai, Haruhiko Akiyama, and Masato Hasegawa
Truncation and pathogenic mutations facilitate the formation of intracellular aggregates of TDP-43
Human Molecular Genetics Advance Access published on June 10, 2009.
doi:10.1093/hmg/ddp275
[Abstract] [Accepted Manuscript] [Supplementary Data] [Request Permissions]

Abstract Article: Aurélie Dipietromaria, Bérénice A. Benayoun, Anne-Laure Todeschini, Isabelle Rivals, Claude Bazin, and Reiner A. Veitia
Towards a functional classification of pathogenic FOXL2 mutations using transactivation reporter systems
Human Molecular Genetics Advance Access published on June 10, 2009.
doi:10.1093/hmg/ddp273
[Abstract] [Accepted Manuscript] [Supplementary Data] [Request Permissions]

Abstract Article: Rachaneekorn Tammachote, Cynthia J. Hommerding, Rachel M. Sinders, Caroline A. Miller, Peter G. Czarnecki, Amanda C. Leightner, Jeffrey L. Salisbury, Christopher J. Ward, Vicente E. Torres, Vincent H. Gattone II, and Peter C. Harris
Ciliary and centrosomal defects associated with mutation and depletion of the Meckel syndrome genes MKS1 and MKS3
Human Molecular Genetics Advance Access published on June 10, 2009.
doi:10.1093/hmg/ddp272
[Abstract] [Accepted Manuscript] [Supplementary Data] [Request Permissions]

8 June 2009

Abstract Article
Margit Rosner, Christiane Fuchs, Nicol Siegel, Alessandro Valli, and Markus Hengstschläger
Functional interaction of mTOR complexes in regulating mammalian cell size and cell cycle
Human Molecular Genetics Advance Access published on June 8, 2009.
doi:10.1093/hmg/ddp271
[Abstract] [Accepted Manuscript] OPEN ACCESS ARTICLE

5 June 2009

Abstract Article: Kate D. Meyer and Jill A. Morris
Disc1 regulates granule cell migration in the developing hippocampus
Human Molecular Genetics Advance Access published on June 5, 2009.
doi:10.1093/hmg/ddp266
[Abstract] [Accepted Manuscript] [Supplementary Data] [Request Permissions]

4 June 2009

Abstract Article
Kenneth D. Cronin, Dongliang Ge, Paul Manninger, Colton Linnertz, Anna Rossoshek, Bonnie M. Orrison, David J. Bernard, Omar M.A. El-Agnaf, Michael G. Schlossmacher, Robert L. Nussbaum, and Ornit Chiba-Falek
Expansion of the Parkinson Disease-Associated SNCA-Rep1 Allele Up-Regulates Human ${alpha}$ -Synuclein in Transgenic Mouse Brain
Human Molecular Genetics Advance Access published on June 4, 2009.
doi:10.1093/hmg/ddp265
[Abstract] [Accepted Manuscript] [Supplementary Data] OPEN ACCESS ARTICLE

Abstract Article
Teresa Rodriguez-Martin, Karen Anthony, Mariano A. Garcia-Blanco, S. Gary Mansfield, and Jean-Marc Gallo
Correction of tau mis-splicing caused by FTDP-17 MAPT mutations by spliceosome-mediated RNA trans-splicing
Human Molecular Genetics Advance Access published on June 4, 2009.
doi:10.1093/hmg/ddp264
[Abstract] [Accepted Manuscript] OPEN ACCESS ARTICLE

Abstract Article: Adam J. de Smith, Carolin Purmann, Robin G. Walters, Richard J. Ellis, Susan E. Holder, Mieke M. Van Haelst, Angela F. Brady, Una L. Fairbrother, Mehul Dattani, Julia M. Keogh, Elana Henning, Giles S.H. Yeo, Stephen O'Rahilly, Philippe Froguel, I. Sadaf Farooqi, and Alexandra I. F. Blakemore
A Deletion of the HBII-85 Class of Small Nucleolar RNAs (snoRNAs) is Associated with Hyperphagia, Obesity and Hypogonadism
Human Molecular Genetics Advance Access published on June 4, 2009.
doi:10.1093/hmg/ddp263
[Abstract] [Accepted Manuscript] [Request Permissions]

3 June 2009

Abstract Article
Ellen Reynders, François Foulquier, Elisa Leão Teles, Dulce Quelhas, Willy Morelle, Cathérine Rabouille, Wim Annaert, and Gert Matthijs
Golgi function and dysfunction in the first COG4-deficient CDG type II patient
Human Molecular Genetics Advance Access published on June 3, 2009.
doi:10.1093/hmg/ddp262
[Abstract] [Accepted Manuscript] [Supplementary Data] OPEN ACCESS ARTICLE

Abstract Article: Li Qian and Rolf Bodmer
Partial loss of GATA factor Pannier impairs adult heart function in Drosophila
Human Molecular Genetics Advance Access published on June 3, 2009.
doi:10.1093/hmg/ddp254
[Abstract] [Accepted Manuscript] [Request Permissions]

1 June 2009

Abstract Article
Jennifer C. Darnell, Claire E. Fraser, Olga Mostovetsky, and Robert B. Darnell
Discrimination of common and unique RNA-binding activities among Fragile-X mental retardation protein paralogs
Human Molecular Genetics Advance Access published on June 1, 2009.
doi:10.1093/hmg/ddp255
[Abstract] [Accepted Manuscript] OPEN ACCESS ARTICLE

Abstract Article: 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.
doi:10.1093/hmg/ddp248
[Abstract] [Accepted Manuscript] [Supplementary Data] [Request Permissions]

30 May 2009

Abstract Article: Viviane Labrie, Ryutaro Fukumura, Anjali Rastogi, Laura J. Fick, Wei Wang, Paul C. Boutros, James L. Kennedy, Mawahib O. Semeralul, Frankie H. Lee, Glen B. Baker, Denise D. Belsham, Steven W. Barger, Yoichi Gondo, Albert H.C. Wong, and John C. Roder
Serine racemase is associated with schizophrenia susceptibility in humans and in a mouse model
Human Molecular Genetics Advance Access published on May 30, 2009.
doi:10.1093/hmg/ddp261
[Abstract] [Accepted Manuscript] [Supplementary Data] [Request Permissions]

Abstract Article
Mercedes Prudencio, P. John Hart, David R. Borchelt, and Peter M. Andersen
Variation in aggregation propensities among ALS-associated variants of SOD1: Correlation to human disease
Human Molecular Genetics Advance Access published on May 30, 2009.
doi:10.1093/hmg/ddp260
[Abstract] [Accepted Manuscript] [Supplementary Data] OPEN ACCESS ARTICLE

Abstract Article: Ralf Zarbock, Doris Hendig, Christiane Szliska, Knut Kleesiek, and Christian Götting
VEGF gene polymorphisms as prognostic markers for ocular manifestations in pseudoxanthoma elasticum
Human Molecular Genetics Advance Access published on May 30, 2009.
doi:10.1093/hmg/ddp259
[Abstract] [Accepted Manuscript] [Request Permissions]

29 May 2009

Abstract Article: Mark P. Burns, Lihua Zhang, G. William Rebeck, Henry W. Querfurth, and Charbel E-H. Moussa
Parkin promotes intracellular Aβ_1-42 clearance
Human Molecular Genetics Advance Access published on May 29, 2009.
doi:10.1093/hmg/ddp258
[Abstract] [Accepted Manuscript] [Request Permissions]

Abstract Article: Irina Kramerova, Elena Kudryashova, Benjamin Wu, Sean Germain, Krista Vandenborne, Nadine Romain, Ronald Haller, M. Anthony Verity, and Melissa J. Spencer
Mitochondrial abnormalities, energy deficit and oxidative stress are features of calpain 3 deficiency in skeletal muscle
Human Molecular Genetics Advance Access published on May 29, 2009.
doi:10.1093/hmg/ddp257
[Abstract] [Accepted Manuscript] [Request Permissions]

Abstract Article: Suhasni Gopalakrishnan, Beth A. Sullivan, Stefania Trazzi, Giuliano Della Valle, and Keith D. Robertson
DNMT3B interacts with constitutive centromere protein CENP-C to modulate DNA methylation and the histone code at centromeric regions
Human Molecular Genetics Advance Access published on May 29, 2009.
doi:10.1093/hmg/ddp256
[Abstract] [Accepted Manuscript] [Supplementary Data] [Request Permissions]

CORRIGENDUM: Lydia Quaye, Dimitra Dafou, Susan J. Ramus, Honglin Song, Aleksandra Gentry-Maharaj, Maria Notaridou, Estrid Hogdall, Susanne Kruger Kjaer, Lise Christensen, Claus Hogdall, Douglas F. Easton, Ian Jacobs, Usha Menon, Paul D.P. Pharoah, and Simon A. Gayther
Functional complementation studies identify candidate genes and common genetic variants associated with ovarian cancer survival
Human Molecular Genetics Advance Access published on May 29, 2009.
doi:10.1093/hmg/ddp234
[Extract] [Full Text] [Accepted Manuscript] [Request Permissions]

28 May 2009

Abstract Article: Charlotte J. Sumner, Claribel D. Wee, Leigh C. Warsing, Dong W. Choe, Andrew S. Ng, Cathleen Lutz, and Kathryn R. Wagner
Inhibition of myostatin does not ameliorate disease features of severe SMA mice
Human Molecular Genetics Advance Access published on May 28, 2009.
doi:10.1093/hmg/ddp253
[Abstract] [Accepted Manuscript] [Supplementary Data] [Request Permissions]

Abstract Article: 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.
doi:10.1093/hmg/ddp252
[Abstract] [Accepted Manuscript] [Request Permissions]

Abstract Article: 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 remodeling and mimics nucleosome positioning
Human Molecular Genetics Advance Access published on May 28, 2009.
doi:10.1093/hmg/ddp251
[Abstract] [Accepted Manuscript] [Supplementary Data] [Request Permissions]

Abstract Article: 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.
doi:10.1093/hmg/ddp250
[Abstract] [Accepted Manuscript] [Supplementary Data] [Request Permissions]

Abstract Article: 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.
doi:10.1093/hmg/ddp249
[Abstract] [Accepted Manuscript] [Supplementary Data] [Request Permissions]

23 May 2009

Abstract Article: 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.
doi:10.1093/hmg/ddp242
[Abstract] [Accepted Manuscript] [Supplementary Data] [Request Permissions]

22 May 2009

Abstract Article: 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.
doi:10.1093/hmg/ddp235
[Abstract] [Accepted Manuscript] [Supplementary Data] [Request Permissions]

21 May 2009

Abstract Article: Rajnish K. Chaturvedi, Peter Adhihetty, S. 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 ${alpha}$ function in muscle in Huntington's disease
Human Molecular Genetics Advance Access published on May 21, 2009.
doi:10.1093/hmg/ddp243
[Abstract] [Accepted Manuscript] [Supplementary Data] [Request Permissions]

Abstract Article: 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.
doi:10.1093/hmg/ddp240
[Abstract] [Accepted Manuscript] [Supplementary Data] [Request Permissions]

20 May 2009

Abstract Article: 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.
doi:10.1093/hmg/ddp241
[Abstract] [Accepted Manuscript] [Supplementary Data] [Request Permissions]

Abstract Article: Corinne Belville, Jean-Didier Maréchal, Sophie Pennetier, Paul Carmillo, Laura Masgrau, Liza Messika-Zeitoun, Julie Galey, Gabrielle Machado, Dominique Treton, Jacques Gonzales, 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.
doi:10.1093/hmg/ddp238
[Abstract] [Accepted Manuscript] [Request Permissions]

Abstract Article: 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.
doi:10.1093/hmg/ddp237
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Abstract Article
Glenn P. Lobo, Kristin A. Waite, Sarah M. Planchon, Todd Romigh, Najah T. Nassif, and Charis Eng
Germline and somatic cancer-associated mutations in the ATP-binding motifs of PTEN influence its subcellular localization and tumor suppressive function
Human Molecular Genetics Advance Access published on May 20, 2009.
doi:10.1093/hmg/ddp220
[Abstract] [Accepted Manuscript] [Supplementary Data] OPEN ACCESS ARTICLE

19 May 2009

Abstract Article: 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.
doi:10.1093/hmg/ddp236
[Abstract] [Accepted Manuscript] [Supplementary Data] [Request Permissions]

Abstract Article: Helena Kilpinen, Tero Ylisaukko-oja, Karola Rehnström, Emilia Gaál, Joni A. Turunen, Elli Kempas, Lennart von Wendt, Teppo Varilo, and Leena Peltonen
Linkage and Linkage Disequilibrium Scan for Autism Loci in an Extended Pedigree from Finland
Human Molecular Genetics Advance Access published on May 19, 2009.
doi:10.1093/hmg/ddp229
[Abstract] [Accepted Manuscript] [Supplementary Data] [Request Permissions]

18 May 2009

Abstract Article: Roza Kucharczyk, Bénédicte Salin, and J.-P. di Rago
INTRODUCING THE HUMAN LEIGH SYNDROM MUTATION T9176G INTO SACCHAROMYCES CEREVIAE MITOCHONDRIAL DNA LEADS TO SEVERE DEFECTS IN THE INCORPORATION OF Atp6p INTO THE ATP SYTNHASE AND IN THE MITOCHONDRIAL MORPHOLOGY
Human Molecular Genetics Advance Access published on May 18, 2009.
doi:10.1093/hmg/ddp226
[Abstract] [Accepted Manuscript] [Request Permissions]

Abstract Article: Yanbo Shi, Manik 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.
doi:10.1093/hmg/ddp239
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14 May 2009

Abstract Article: 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.
doi:10.1093/hmg/ddp233
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Abstract Article: 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.
doi:10.1093/hmg/ddp232
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Abstract Article: 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, Alison M. Goate, and 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.
doi:10.1093/hmg/ddp231
[Abstract] [Accepted Manuscript] [Supplementary Data] [Request Permissions]

Abstract Article: 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.
doi:10.1093/hmg/ddp230
[Abstract] [Accepted Manuscript] [Supplementary Data] [Request Permissions]

12 May 2009

Abstract Article: Radoslaw Dobrowolski, Gerda Hertig, Hildegard Lechner, Philipp Wörsdörfer, Volker Wulf, Nikolai Dicke, Dawid Eckert, Reinhard Bauer, Hubert Schorle, and Klaus Willecke
Loss of connexin43 mediated gap junctional coupling in the mesenchyme of limb buds leads to altered expression of morphogens in mice
Human Molecular Genetics Advance Access published on May 12, 2009.
doi:10.1093/hmg/ddp227
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10 May 2009

Abstract Article: Leah K. Hutnick, Peyman Golshani, Masakasu Namihira, Zhigang Xue, Anna Matynia, X. William Yang, Alcino J. Silva, Felix E. Schweizer, and Guoping Fan
DNA hypomethylation restricted to the murine forebrain induces cortical degeneration and impairs postnatal neuronal maturation
Human Molecular Genetics Advance Access published on May 10, 2009.
doi:10.1093/hmg/ddp222
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9 May 2009

Abstract Article: Ying Wang, Jay C. Groppe, Jingfeng Wu, Takuya Ogawa, Gabriele Mues, Rena N. D'Souza, and Hitesh Kapadia
Pathogenic mechanisms of tooth agenesis linked to paired domain mutations in human PAX9
Human Molecular Genetics Advance Access published on May 9, 2009.
doi:10.1093/hmg/ddp221
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Abstract Article
Rachel M. Freathy, Susan M. Ring, Beverley Shields, Bruna Galobardes, Beatrice Knight, Michael N. Weedon, George Davey Smith, Timothy M. Frayling, and Andrew T. Hattersley
A common genetic variant in the 15q24 nicotinic acetylcholine receptor gene cluster (CHRNA5-CHRNA3-CHRNB4) is associated with a reduced ability of women to quit smoking in pregnancy
Human Molecular Genetics Advance Access published on May 9, 2009.
doi:10.1093/hmg/ddp216
[Abstract] [Accepted Manuscript] [Supplementary Data] OPEN ACCESS ARTICLE

Abstract Article: Meredith Downes, Mathias François, Charles Ferguson, Robert G. Parton, and Peter Koopman
Vascular defects in a mouse model of hypotrichosis-lymphedema-telangiectasia syndrome indicate a role for SOX18 in blood vessel maturation
Human Molecular Genetics Advance Access published on May 9, 2009.
doi:10.1093/hmg/ddp219
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Abstract Article: Huilin Jin, Rob J. van't Hof, Omar M. E. Albagha, and Stuart H. Ralston
Promoter and intron 1 polymorphisms of COL1A1 interact to regulate transcription and susceptibility to osteoporosis
Human Molecular Genetics Advance Access published on May 9, 2009.
doi:10.1093/hmg/ddp205
[Abstract] [Accepted Manuscript] [Request Permissions]

7 May 2009

Abstract Article: Pradeep Reddy, Deepak Adhikari, Wenjing Zheng, Shawn Liang, Tuula Hämäläinen, Virpi Tohonen, Wataru Ogawa, Tetsuo Noda, Sinisa Volarevic, Ilpo Huhtaniemi, and Kui Liu
PDK1 signaling in oocytes controls reproductive aging and lifespan by manipulating the survival of primordial follicles
Human Molecular Genetics Advance Access published on May 7, 2009.
doi:10.1093/hmg/ddp217
[Abstract] [Accepted Manuscript] [Supplementary Data] [Request Permissions]

Abstract Article: Satu Massinen, Kristiina Tammimies, Isabel Tapia-Páez, Hans Matsson, Marie-Estelle Hokkanen, Ola Söderberg, Ulf Landegren, Eero Castrén, Jan-Åke Gustafsson, Eckardt Treuter, and Juha Kere
Functional interaction of DYX1C1 with estrogen receptors suggests involvement of hormonal pathways in dyslexia
Human Molecular Genetics Advance Access published on May 7, 2009.
doi:10.1093/hmg/ddp215
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Abstract Article
Bina Joe, Yasser Saad, Norman Lee, Bryan Frank, Ovoke Achinike, Truong Luu, Kathirvel Gopalakrishnan, Edward Toland, Phyllis Farms, Shane Yerga-Woolwine, Ezhilarasi Manickavasagam, John Rapp, Michael Garrett, David Coe, Suneel Apte, Tuomoko Rankinen, Louis Pérusse, Georg Ehret, Santhi Ganesh, Richard Cooper, Ashley Connor, Treva Rice, Alan Weder, Aravinda Chakravarti, Dabeeru Rao, and Claude Bouchard
Positional identification of variants of Adamts16 linked to inherited hypertension
Human Molecular Genetics Advance Access published on May 7, 2009.
doi:10.1093/hmg/ddp218
[Abstract] [Accepted Manuscript] [Supplementary Data] OPEN ACCESS ARTICLE

5 May 2009

Abstract Article: Zheng Huang, Degang Wang, Kaori Ihida-Stansbury, Peter Lloyd Jones, and James F. Martin
Defective pulmonary vascular remodeling in Smad8 mutant mice
Human Molecular Genetics Advance Access published on May 5, 2009.
doi:10.1093/hmg/ddp214
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Abstract Article: Paulina Heidrych, Ulrike Zimmermann, Stephanie Kuhn, Christoph Franz, Jutta Engel, Susanne V. Duncker, Bernhard Hirt, Carsten M. Pusch, Peter Ruth, Markus Pfister, Walter Marcotti, Nikolaus Blin, and Marlies Knipper
Otoferlin interacts with myosin VI: implications for maintenance of the basolateral synaptic structure of the inner hair cell
Human Molecular Genetics Advance Access published on May 5, 2009.
doi:10.1093/hmg/ddp213
[Abstract] [Accepted Manuscript] [Request Permissions]

Abstract Article: Audrey Sabbagh, Eric Pasmant, Ingrid Laurendeau, Béatrice Parfait, Sébastien Barbarot, Bernard Guillot, Patrick Combemale, Salah Ferkal, Michel Vidaud, Patrick Aubourg, Dominique Vidaud, Pierre Wolkenstein, and and the members of the NF France Network
Unravelling the genetic basis of variable clinical expression in neurofibromatosis 1
Human Molecular Genetics Advance Access published on May 5, 2009.
doi:10.1093/hmg/ddp212
[Abstract] [Accepted Manuscript] [Supplementary Data] [Request Permissions]

Abstract Article: Christian Opherk, Marco Düring, Nils Peters, Anna Karpinska, Stefanie Rosner, Elisabeth Schneider, Benedikt Bader, Armin Giese, and Martin Dichgans
CADASIL mutations enhance spontaneous multimerization of NOTCH3
Human Molecular Genetics Advance Access published on May 5, 2009.
doi:10.1093/hmg/ddp211
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3 May 2009

Abstract Article: Ruishuang Geng, Scott F. Geller, Toshinori Hayashi, Catherine A. Ray, Thomas A. Reh, Olivia Bermingham-McDonogh, Sherri M. Jones, Charles G. Wright, Sami Melki, Yoshikazu Imanishi, Krzysztof Palczewski, Kumar N. Alagramam, and John G. Flannery
Usher Syndrome IIIA Gene Clarin-1 is Essential for Hair Cell Function and Associated Neural Activation
Human Molecular Genetics Advance Access published on May 3, 2009.
doi:10.1093/hmg/ddp210
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Abstract Article: Wail M. Hassan, David A. Merin, Virginia Fonte, and Christopher D. Link
AIP-1 ameliorates β-amyloid peptide toxicity in a Caenorhabditis elegans Alzheimer's disease model
Human Molecular Genetics Advance Access published on May 3, 2009.
doi:10.1093/hmg/ddp209
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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
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