Human Molecular Genetics

ARTICLES

Get checked abstract Vinzenz Oji, Juliette Mazereeuw Hautier, Bijan Ahvazi, Ingrid Hausser, Karin Aufenvenne, Tatjana Walker, Natalia Seller, Peter M. Steijlen, Wolfgang Küster, Alain Hovnanian, Hans Christian Hennies, and Heiko Traupe

Bathing suit ichthyosis is caused by transglutaminase-1 deficiency: evidence for a temperature-sensitive phenotype
Human Molecular Genetics Advance Access published on September 12, 2006
Hum. Mol. Genet. 2006 15: 3083-3097; doi:10.1093/hmg/ddl249 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Get checked abstract Valérie Tosch, Holger M. Rohde, Hélène Tronchère, Edmar Zanoteli, Nancy Monroy, Christine Kretz, Nicolas Dondaine, Bernard Payrastre, Jean-Louis Mandel, and Jocelyn Laporte

A novel PtdIns3P and PtdIns(3,5)P₂ phosphatase with an inactivating variant in centronuclear myopathy
Human Molecular Genetics Advance Access published on September 28, 2006
Hum. Mol. Genet. 2006 15: 3098-3106; doi:10.1093/hmg/ddl250 [Abstract] [FREE Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Get checked abstract Ping K. Yip, Liang-Fong Wong, Damian Pattinson, Anna Battaglia, John Grist, Elizabeth J. Bradbury, Malcolm Maden, Stephen B. McMahon, and Nicholas D. Mazarakis

Lentiviral vector expressing retinoic acid receptor ß2 promotes recovery of function after corticospinal tract injury in the adult rat spinal cord
Human Molecular Genetics Advance Access published on September 19, 2006
Hum. Mol. Genet. 2006 15: 3107-3118; doi:10.1093/hmg/ddl251 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Get checked abstract Ruben Smith, Hinfan Chung, Sara Rundquist, Marion L.C. Maat-Schieman, Lesley Colgan, Elisabet Englund, Yong-Jian Liu, Raymund A.C. Roos, Richard L.M. Faull, Patrik Brundin, and Jia-Yi Li

Cholinergic neuronal defect without cell loss in Huntington's disease
Human Molecular Genetics Advance Access published on September 20, 2006
Hum. Mol. Genet. 2006 15: 3119-3131; doi:10.1093/hmg/ddl252 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Get checked abstract Hamid Mostafavi Abdolmaleky, Kuang-hung Cheng, Stephen V. Faraone, Marsha Wilcox, Stephen J. Glatt, Fangming Gao, Cassandra L. Smith, Rahim Shafa, Batol Aeali, Julie Carnevale, Hongjie Pan, Panagiotis Papageorgis, Jose F. Ponte, Vadivelu Sivaraman, Ming T. Tsuang, and Sam Thiagalingam

Hypomethylation of MB-COMT promoter is a major risk factor for schizophrenia and bipolar disorder
Human Molecular Genetics Advance Access published on September 19, 2006
Hum. Mol. Genet. 2006 15: 3132-3145; doi:10.1093/hmg/ddl253 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Get checked abstract Ibi Herzberg, Anna Jasinska, Jenny García, Damini Jawaheer, Susan Service, Barbara Kremeyer, Constanza Duque, María V. Parra, Jorge Vega, Daniel Ortiz, Luis Carvajal, Guadalupe Polanco, Gabriel J. Restrepo, Carlos López, Carlos Palacio, Matthew Levinson, Ileana Aldana, Carol Mathews, Pablo Davanzo, Julio Molina, Eduardo Fournier, Julio Bejarano, Magui Ramírez, Carmen Araya Ortiz, Xinia Araya, Chiara Sabatti, Victor Reus, Gabriel Macaya, Gabriel Bedoya, Jorge Ospina, Nelson Freimer, and Andrés Ruiz-Linares

Convergent linkage evidence from two Latin-American population isolates supports the presence of a susceptibility locus for bipolar disorder in 5q31–34
Human Molecular Genetics Advance Access published on September 19, 2006
Hum. Mol. Genet. 2006 15: 3146-3153; doi:10.1093/hmg/ddl254 [Abstract] [FREE Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Get checked abstract Sonja C. Vernes, Jérôme Nicod, Fanny M. Elahi, Julie A. Coventry, Niamh Kenny, Anne-Marie Coupe, Louise E. Bird, Kay E. Davies, and Simon E. Fisher

Functional genetic analysis of mutations implicated in a human speech and language disorder
Human Molecular Genetics Advance Access published on September 19, 2006
Hum. Mol. Genet. 2006 15: 3154-3167; doi:10.1093/hmg/ddl392 [Abstract] [FREE Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Get checked abstract Mario A. Guzmán, María A. Navarro, Ricardo Carnicer, Alfonso J. Sarría, Sergio Acín, Carmen Arnal, Pedro Muniesa, Joaquín C. Surra, José M. Arbonés-Mainar, Nobuyo Maeda, and Jesús Osada

Cystathionine ß-synthase is essential for female reproductive function
Human Molecular Genetics Advance Access published on September 19, 2006
Hum. Mol. Genet. 2006 15: 3168-3176; doi:10.1093/hmg/ddl393 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Get checked abstract Huu Phuc Nguyen, Philipp Kobbe, Henning Rahne, Till Wörpel, Burkard Jäger, Michael Stephan, Reinhard Pabst, Carsten Holzmann, Olaf Riess, Hubert Korr, Orsolya Kántor, Elisabeth Petrasch-Parwez, Ronald Wetzel, Alexander Osmand, and Stephan von Hörsten

Behavioral abnormalities precede neuropathological markers in rats transgenic for Huntington's disease
Human Molecular Genetics Advance Access published on September 19, 2006
Hum. Mol. Genet. 2006 15: 3177-3194; doi:10.1093/hmg/ddl394 [Abstract] [FREE Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Get checked abstract D.S. Cunninghame Graham, A.K. Wong, N.J. McHugh, J.C. Whittaker, and Timothy J. Vyse

Evidence for unique association signals in SLE at the CD28–CTLA4–ICOS locus in a family-based study
Human Molecular Genetics Advance Access published on September 25, 2006
Hum. Mol. Genet. 2006 15: 3195-3205; doi:10.1093/hmg/ddl395 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Get checked abstract Yvette P. Conley, Johanna Jakobsdottir, Tammy Mah, Daniel E. Weeks, Ronald Klein, Lewis Kuller, Robert E. Ferrell, and Michael B. Gorin

CFH, ELOVL4, PLEKHA1 and LOC387715 genes and susceptibility to age-related maculopathy: AREDS and CHS cohorts and meta-analyses
Human Molecular Genetics Advance Access published on September 25, 2006
Hum. Mol. Genet. 2006 15: 3206-3218; doi:10.1093/hmg/ddl396 [Abstract] [FREE Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Get checked abstract Vimla S. Aggarwal, Jun Liao, Alexei Bondarev, Thomas Schimmang, Mark Lewandoski, Joseph Locker, Alan Shanske, Marina Campione, and Bernice E. Morrow

Dissection of Tbx1 and Fgf interactions in mouse models of 22q11DS suggests functional redundancy
Human Molecular Genetics Advance Access published on September 25, 2006
Hum. Mol. Genet. 2006 15: 3219-3228; doi:10.1093/hmg/ddl399 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Get checked abstract Yahya Tamimi, Jonathan M. Skarie, Tim Footz, Fred B. Berry, Brian A. Link, and Michael A. Walter

FGF19 is a target for FOXC1 regulation in ciliary body-derived cells
Human Molecular Genetics Advance Access published on September 25, 2006
Hum. Mol. Genet. 2006 15: 3229-3240; doi:10.1093/hmg/ddl400 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Get checked abstract Chou Hung Sim, Daisy Sio Seng Lio, Su San Mok, Colin L. Masters, Andrew F. Hill, Janetta G. Culvenor, and Heung-Chin Cheng

C-terminal truncation and Parkinson's disease-associated mutations down-regulate the protein serine/threonine kinase activity of PTEN-induced kinase-1
Human Molecular Genetics Advance Access published on September 25, 2006
Hum. Mol. Genet. 2006 15: 3251-3262; doi:10.1093/hmg/ddl398 [Abstract] [FREE Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Get checked abstract Emily L. Webb, Matthew F. Rudd, Gabrielle S. Sellick, Rachid El Galta, Lara Bethke, Wendy Wood, Olivia Fletcher, Steven Penegar, Laura Withey, Mobshra Qureshi, Nichola Johnson, Ian Tomlinson, Richard Gray, Julian Peto, and Richard S. Houlston

Search for low penetrance alleles for colorectal cancer through a scan of 1467 non-synonymous SNPs in 2575 cases and 2707 controls with validation by kin-cohort analysis of 14 704 first-degree relatives
Human Molecular Genetics Advance Access published on September 25, 2006
Hum. Mol. Genet. 2006 15: 3263-3271; doi:10.1093/hmg/ddl401 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

CORRIGENDUM

Lydia Urak, Martha Feucht, Nahid Fathi, Kurt Hornik, and Karoline Fuchs

A GABRB3 promoter haplotype associated with childhood absence epilepsy impairs transcriptional activity
Hum. Mol. Genet. 2006 15: 3272; doi:10.1093/hmg/ddl397 [Extract] [FREE Full Text] [PDF] [Request Permissions]  

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