Human Molecular Genetics

ARTICLES:

Guido Fitze, Hella Appelt, Inke R. König, Heike Görgens, Ulrike Stein, Wolfgang Walther, Manfred Gossen, Matthias Schreiber, Andreas Ziegler, Dietmar Roesner, and Hans K. Schackert

Functional haplotypes of the RET proto-oncogene promoter are associated with Hirschsprung disease (HSCR)
Human Molecular Genetics Advance Access published on November 4, 2003
Hum. Mol. Genet. 2003 12: 3207-3214; doi:10.1093/hmg/ddg354 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Zubair M. Ahmed, Saima Riazuddin, Jamil Ahmad, Steve L. Bernstein, Yan Guo, Muhammad F. Sabar, Paul Sieving, Sheikh Riazuddin, Andrew J. Griffith, Thomas B. Friedman, Inna A. Belyantseva, and Edward R. Wilcox

PCDH15 is expressed in the neurosensory epithelium of the eye and ear and mutant alleles are responsible for both USH1F and DFNB23
Human Molecular Genetics Advance Access published on October 21, 2003
Hum. Mol. Genet. 2003 12: 3215-3223; doi:10.1093/hmg/ddg358 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Clyde Francks, Lynn E. DeLisi, Sarah H. Shaw, Simon E. Fisher, Alex J. Richardson, John F. Stein, and Anthony P. Monaco

Parent-of-origin effects on handedness and schizophrenia susceptibility on chromosome 2p12–q11
Human Molecular Genetics Advance Access published on October 28, 2003
Hum. Mol. Genet. 2003 12: 3225-3230; doi:10.1093/hmg/ddg362 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Zheng-Hong Qin, Yumei Wang, Kimberly B. Kegel, Aleksey Kazantsev, Barbara L. Apostol, Leslie Michels Thompson, Jennifer Yoder, Neil Aronin, and Marian DiFiglia

Autophagy regulates the processing of amino terminal huntingtin fragments
Human Molecular Genetics Advance Access published on October 21, 2003
Hum. Mol. Genet. 2003 12: 3231-3244; doi:10.1093/hmg/ddg346 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Yu Kun, Lee Chee How, Tan Puay Hoon, Vladimir B. Bajic, Tan Sin Lam, Amit Aggarwal, Hong Ga Sze, Wee Siew Bok, Wong Chow Yin, and Patrick Tan

Classifying the estrogen receptor status of breast cancers by expression profiles reveals a poor prognosis subpopulation exhibiting high expression of the ERBB2 receptor
Human Molecular Genetics Advance Access published on October 21, 2003
Hum. Mol. Genet. 2003 12: 3245-3258; doi:10.1093/hmg/ddg347 [Abstract] [FREE Full Text] [PDF] [Supplementary Material] [Request Permissions]  

Yi-Ju Li, Sofia A. Oliveira, Puting Xu, Eden R. Martin, Judith E. Stenger, Clemens R. Scherzer, Michael A. Hauser, William K. Scott, Gary W. Small, Martha A. Nance, Ray L. Watts, Jean P. Hubble, William C. Koller, Rajesh Pahwa, Mathew B. Stern, Bradley C. Hiner, Joseph Jankovic, Christopher G. Goetz, Frank Mastaglia, Lefkos T. Middleton, Allen D. Roses, Ann M. Saunders, Donald E. Schmechel, Steven R. Gullans, Jonathan L. Haines, John R. Gilbert, Jeffery M. Vance, and Margaret A. Pericak-Vance

Glutathione S-transferase omega-1 modifies age-at-onset of Alzheimer disease and Parkinson disease
Human Molecular Genetics Advance Access published on October 21, 2003
Hum. Mol. Genet. 2003 12: 3259-3267; doi:10.1093/hmg/ddg357 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Graeme C.M. Black, Chantal J. Mazerolle, Yaping Wang, Katrina D. Campsall, Dino Petrin, Brian C. Leonard, Karim F. Damji, D. Gareth Evans, David McLeod, and Valerie A. Wallace

Abnormalities of the vitreoretinal interface caused by dysregulated Hedgehog signaling during retinal development
Human Molecular Genetics Advance Access published on October 21, 2003
Hum. Mol. Genet. 2003 12: 3269-3276; doi:10.1093/hmg/ddg356 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Rajiv D. Machado, Nung Rudarakanchana, Carl Atkinson, Julia A. Flanagan, Rachel Harrison, Nicholas W. Morrell, and Richard C. Trembath

Functional interaction between BMPR-II and Tctex-1, a light chain of Dynein, is isoform-specific and disrupted by mutations underlying primary pulmonary hypertension
Human Molecular Genetics Advance Access published on October 28, 2003
Hum. Mol. Genet. 2003 12: 3277-3286; doi:10.1093/hmg/ddg365 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Laure Plantard, Marcel Huber, Francoise Macari, Paolo Meda, and Daniel Hohl

Molecular interaction of connexin 30.3 and connexin 31 suggests a dominant-negative mechanism associated with erythrokeratodermia variabilis
Human Molecular Genetics Advance Access published on October 28, 2003
Hum. Mol. Genet. 2003 12: 3287-3294; doi:10.1093/hmg/ddg364 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Stephanie Ceman, William T. O'Donnell, Matt Reed, Stephana Patton, Jan Pohl, and Stephen T. Warren

Phosphorylation influences the translation state of FMRP-associated polyribosomes
Human Molecular Genetics Advance Access published on October 21, 2003
Hum. Mol. Genet. 2003 12: 3295-3305; doi:10.1093/hmg/ddg350 [Abstract] [FREE Full Text] [PDF] [Supplementary Material] [Request Permissions]  

Miguel A. Maestro, Sylvia F. Boj, Reini F. Luco, Christophe E. Pierreux, Judit Cabedo, Joan M. Servitja, Michael S. German, Guy G. Rousseau, Frédéric P. Lemaigre, and Jorge Ferrer

Hnf6 and Tcf2 (MODY5) are linked in a gene network operating in a precursor cell domain of the embryonic pancreas
Human Molecular Genetics Advance Access published on October 21, 2003
Hum. Mol. Genet. 2003 12: 3307-3314; doi:10.1093/hmg/ddg355 [Abstract] [FREE Full Text] [PDF] [Supplementary Material] [Request Permissions]  

Dennis W. Schultz, Michael L. Klein, Andrea J. Humpert, Christina W. Luzier, Vesna Persun, Mitchell Schain, Alison Mahan, Charles Runckel, Maria Cassera, Vasavi Vittal, Trudy M. Doyle, Tammy M. Martin, Richard G. Weleber, Peter J. Francis, and Ted S. Acott

Analysis of the ARMD1 locus: evidence that a mutation in HEMICENTIN-1 is associated with age-related macular degeneration in a large family
Human Molecular Genetics Advance Access published on October 21, 2003
Hum. Mol. Genet. 2003 12: 3315-3323; doi:10.1093/hmg/ddg348 [Abstract] [FREE Full Text] [PDF] [Supplementary Material] [Request Permissions]  

Shamil Sunyaev, Fyodor A. Kondrashov, Peer Bork, and Vasily Ramensky

Impact of selection, mutation rate and genetic drift on human genetic variation
Human Molecular Genetics Advance Access published on October 21, 2003
Hum. Mol. Genet. 2003 12: 3325-3330; doi:10.1093/hmg/ddg359 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Gopalakrishnan Karthikeyan, Janine H. Santos, Maria A. Graziewicz, William C. Copeland, Grazia Isaya, Bennett Van Houten, and Michael A. Resnick

Reduction in frataxin causes progressive accumulation of mitochondrial damage
Human Molecular Genetics Advance Access published on October 21, 2003
Hum. Mol. Genet. 2003 12: 3331-3342; doi:10.1093/hmg/ddg349 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Claire Rougeulle, Pablo Navarro, and Philip Avner

Promoter-restricted H3 Lys 4 di-methylation is an epigenetic mark for monoallelic expression
Human Molecular Genetics Advance Access published on October 21, 2003
Hum. Mol. Genet. 2003 12: 3343-3348; doi:10.1093/hmg/ddg351 [Abstract] [FREE Full Text] [PDF] [Supplementary Material] [Request Permissions]  

Shunji Tomatsu, Koji O. Orii, Carole Vogler, Jun Nakayama, Beth Levy, Jeffrey H. Grubb, Monica A. Gutierrez, Soomin Shim, Seiji Yamaguchi, Tatsuo Nishioka, Adriana Maria Montaño, Akihiko Noguchi, Tadao Orii, Naomi Kondo, and William S. Sly

Mouse model of N-acetylgalactosamine-6-sulfate sulfatase deficiency (Galns^-/-) produced by targeted disruption of the gene defective in Morquio A disease
Human Molecular Genetics Advance Access published on October 28, 2003
Hum. Mol. Genet. 2003 12: 3349-3358; doi:10.1093/hmg/ddg366 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Laura Kennedy, Elizabeth Evans, Chiung-Mei Chen, Lyndsey Craven, Peter J. Detloff, Margaret Ennis, and Peggy F. Shelbourne

Dramatic tissue-specific mutation length increases are an early molecular event in Huntington disease pathogenesis
Human Molecular Genetics Advance Access published on October 21, 2003
Hum. Mol. Genet. 2003 12: 3359-3367; doi:10.1093/hmg/ddg352 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Luca Rampoldi, Gianluca Caridi, Daniela Santon, Francesca Boaretto, Ilenia Bernascone, Giuseppe Lamorte, Regina Tardanico, Monica Dagnino, Giacomo Colussi, Francesco Scolari, Gian Marco Ghiggeri, Antonio Amoroso, and Giorgio Casari

Allelism of MCKD, FJHN and GCKD caused by impairment of uromodulin export dynamics
Human Molecular Genetics Advance Access published on October 21, 2003
Hum. Mol. Genet. 2003 12: 3369-3384; doi:10.1093/hmg/ddg353 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Jessica Caprioli, Federica Castelletti, Sara Bucchioni, Paola Bettinaglio, Elena Bresin, Gaia Pianetti, Sara Gamba, Simona Brioschi, Erica Daina, Giuseppe Remuzzi, and Marina Noris

Complement factor H mutations and gene polymorphisms in haemolytic uraemic syndrome: the C-257T, the A2089G and the G2881T polymorphisms are strongly associated with the disease
Human Molecular Genetics Advance Access published on October 28, 2003
Hum. Mol. Genet. 2003 12: 3385-3395; doi:10.1093/hmg/ddg363 [Abstract] [FREE Full Text] [PDF] [Supplementary Material] [Request Permissions]  

Tobias B. Huber, Matias Simons, Björn Hartleben, Leonie Sernetz, Miriam Schmidts, Enken Gundlach, Moin A. Saleem, Gerd Walz, and Thomas Benzing

Molecular basis of the functional podocin–nephrin complex: mutations in the NPHS2 gene disrupt nephrin targeting to lipid raft microdomains
Human Molecular Genetics Advance Access published on October 21, 2003
Hum. Mol. Genet. 2003 12: 3397-3405; doi:10.1093/hmg/ddg360 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

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