Human Molecular Genetics

ARTICLES:

Hülya Nazlican, Michael Zeschnigk, Uwe Claussen, Susanne Michel, Stefan Boehringer, Gabriele Gillessen-Kaesbach, Karin Buiting, and Bernhard Horsthemke

Somatic mosaicism in patients with Angelman syndrome and an imprinting defect
Human Molecular Genetics Advance Access published on September 22, 2004
Hum. Mol. Genet. 2004 13: 2547-2555; doi:10.1093/hmg/ddh296 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Xiayi Ke, Caroline Durrant, Andrew P. Morris, Sarah Hunt, David R. Bentley, Panos Deloukas, and Lon R. Cardon

Efficiency and consistency of haplotype tagging of dense SNP maps in multiple samples
Human Molecular Genetics Advance Access published on September 14, 2004
Hum. Mol. Genet. 2004 13: 2557-2565; doi:10.1093/hmg/ddh294 [Abstract] [FREE Full Text] [PDF] [Supplementary Material] [Request Permissions]  

Jos L.V. Broers, Emiel A.G. Peeters, Helma J.H. Kuijpers, Jorike Endert, Carlijn V.C. Bouten, Cees W.J. Oomens, Frank P.T. Baaijens, and Frans C.S. Ramaekers

Decreased mechanical stiffness in LMNA–/– cells is caused by defective nucleo-cytoskeletal integrity: implications for the development of laminopathies
Human Molecular Genetics Advance Access published on September 14, 2004
Hum. Mol. Genet. 2004 13: 2567-2580; doi:10.1093/hmg/ddh295 [Abstract] [FREE Full Text] [PDF] [Supplementary Material] [Request Permissions]  

Oscar Teijido, Albert Martínez, Michael Pusch, Antonio Zorzano, Eduardo Soriano, Jose Antonio del Río, Manuel Palacín, and Raúl Estévez

Localization and functional analyses of the MLC1 protein involved in megalencephalic leukoencephalopathy with subcortical cysts
Human Molecular Genetics Advance Access published on September 14, 2004
Hum. Mol. Genet. 2004 13: 2581-2594; doi:10.1093/hmg/ddh291 [Abstract] [FREE Full Text] [PDF] [Supplementary Material] [Request Permissions]  

Anna Brancaccio, Annunziata Minichiello, Marina Grachtchouk, Dario Antonini, Hong Sheng, Rosanna Parlato, Nina Dathan, Andrzej A. Dlugosz, and Caterina Missero

Requirement of the forkhead gene Foxe1, a target of sonic hedgehog signaling, in hair follicle morphogenesis
Human Molecular Genetics Advance Access published on September 14, 2004
Hum. Mol. Genet. 2004 13: 2595-2606; doi:10.1093/hmg/ddh292 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Lluïsa de Yebra, Rosa Adroer, Nuria de Gregorio-Rocasolano, Rafael Blesa, Ramon Trullas, and Nicole Mahy

Reduced KIAA0471 mRNA expression in Alzheimer's patients: a new candidate gene product linked to the disease?
Human Molecular Genetics Advance Access published on September 14, 2004
Hum. Mol. Genet. 2004 13: 2607-2612; doi:10.1093/hmg/ddh293 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Jiong Yan, Victoria W. Keener, Weimin Bi, Katherina Walz, Allan Bradley, Monica J. Justice, and James R. Lupski

Reduced penetrance of craniofacial anomalies as a function of deletion size and genetic background in a chromosome engineered partial mouse model for Smith–Magenis syndrome
Human Molecular Genetics Advance Access published on September 30, 2004
Hum. Mol. Genet. 2004 13: 2613-2624; doi:10.1093/hmg/ddh288 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Martin Zenker, Thomas Aigner, Olaf Wendler, Tim Tralau, Horst Müntefering, Regina Fenski, Susanne Pitz, Valérie Schumacher, Brigitte Royer-Pokora, Elke Wühl, Pierre Cochat, Raymonde Bouvier, Cornelia Kraus, Karlheinz Mark, Henry Madlon, Jörg Dötsch, Wolfgang Rascher, Iwona Maruniak-Chudek, Thomas Lennert, Luitgard M. Neumann, and André Reis

Human laminin ß2 deficiency causes congenital nephrosis with mesangial sclerosis and distinct eye abnormalities
Human Molecular Genetics Advance Access published on September 14, 2004
Hum. Mol. Genet. 2004 13: 2625-2632; doi:10.1093/hmg/ddh284 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Josephine E. Joya, Anthony J. Kee, Visalini Nair-Shalliker, Majid Ghoddusi, Mai-Anh T. Nguyen, Pradeep Luther, and Edna C. Hardeman

Muscle weakness in a mouse model of nemaline myopathy can be reversed with exercise and reveals a novel myofiber repair mechanism
Human Molecular Genetics Advance Access published on September 14, 2004
Hum. Mol. Genet. 2004 13: 2633-2645; doi:10.1093/hmg/ddh285 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Hagit Katzov, Anna M. Bennet, Patrick Kehoe, Björn Wiman, Margaret Gatz, Kaj Blennow, Boris Lenhard, Nancy L. Pedersen, Ulf de Faire, and Jonathan A. Prince

A cladistic model of ACE sequence variation with implications for myocardial infarction, Alzheimer disease and obesity
Human Molecular Genetics Advance Access published on September 14, 2004
Hum. Mol. Genet. 2004 13: 2647-2657; doi:10.1093/hmg/ddh286 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Hongyan Wang, Samuel Parry, George Macones, Mary D. Sammel, Pedro E. Ferrand, Helena Kuivaniemi, Gerard Tromp, Indrani Halder, Mark D. Shriver, Roberto Romero, and Jerome F. Strauss, III

Functionally significant SNP MMP8 promoter haplotypes and preterm premature rupture of membranes (PPROM)
Human Molecular Genetics Advance Access published on September 14, 2004
Hum. Mol. Genet. 2004 13: 2659-2669; doi:10.1093/hmg/ddh287 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Xiaoxia Wang, Stephanie D. Thomas, and Jianzhi Zhang

Relaxation of selective constraint and loss of function in the evolution of human bitter taste receptor genes
Human Molecular Genetics Advance Access published on September 14, 2004
Hum. Mol. Genet. 2004 13: 2671-2678; doi:10.1093/hmg/ddh289 [Abstract] [FREE Full Text] [PDF] [Supplementary Material] [Request Permissions]  

Ann L. Collins, Jonathan M. Levenson, Alexander P. Vilaythong, Ronald Richman, Dawna L. Armstrong, Jeffrey L. Noebels, J. David Sweatt, and Huda Y. Zoghbi

Mild overexpression of MeCP2 causes a progressive neurological disorder in mice
Human Molecular Genetics Advance Access published on September 6, 2004
Hum. Mol. Genet. 2004 13: 2679-2689; doi:10.1093/hmg/ddh282 [Abstract] [FREE Full Text] [PDF] [Supplementary Material] [Request Permissions]  

Jing-Long Huang, Pei-Song Gao, Rasika A. Mathias, Tsung-Chieh Yao, Li-Chen Chen, Ming-Ling Kuo, Shih-Chang Hsu, Beverly Plunkett, Alkis Togias, Kathleen C. Barnes, Cristiana Stellato, Terri H. Beaty, and Shau-Ku Huang

Sequence variants of the gene encoding chemoattractant receptor expressed on Th2 cells (CRTH2) are associated with asthma and differentially influence mRNA stability
Human Molecular Genetics Advance Access published on September 2, 2004
Hum. Mol. Genet. 2004 13: 2691-2697; doi:10.1093/hmg/ddh279 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Tadahiro Numakawa, Yuki Yagasaki, Tetsuya Ishimoto, Takeya Okada, Tatsuyo Suzuki, Nakao Iwata, Norio Ozaki, Takahisa Taguchi, Masahiko Tatsumi, Kunitoshi Kamijima, Richard E. Straub, Daniel R. Weinberger, Hiroshi Kunugi, and Ryota Hashimoto

Evidence of novel neuronal functions of dysbindin, a susceptibility gene for schizophrenia
Human Molecular Genetics Advance Access published on September 2, 2004
Hum. Mol. Genet. 2004 13: 2699-2708; doi:10.1093/hmg/ddh280 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Junko Matsuda, Makiko Kido, Keiko Tadano-Aritomi, Ineo Ishizuka, Kumiko Tominaga, Kazunori Toida, Eiji Takeda, Kunihiko Suzuki, and Yasuhiro Kuroda

Mutation in saposin D domain of sphingolipid activator protein gene causes urinary system defects and cerebellar Purkinje cell degeneration with accumulation of hydroxy fatty acid-containing ceramide in mouse
Human Molecular Genetics Advance Access published on September 2, 2004
Hum. Mol. Genet. 2004 13: 2709-2723; doi:10.1093/hmg/ddh281 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Corrigenda:

Ivone G. Bruno, Wei Jin, and Gilbert J. Cote

Correction of aberrant FGFR1 alternative RNA splicing through targeting of intronic regulatory elements
Hum. Mol. Genet. 2004 13: 2725; doi:10.1093/hmg/ddh297 [Extract] [FREE Full Text] [PDF] [Request Permissions]  

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