Human Molecular Genetics

ARTICLES:

François Bertucci, Valéry Nasser, Samuel Granjeaud, François Eisinger, José Adelaïde, Rebecca Tagett, Béatrice Loriod, Aurélia Giaconia, Athmane Benziane, Elisabeth Devilard, Jocelyne Jacquemier, Patrice Viens, Catherine Nguyen, Daniel Birnbaum, and Rémi Houlgatte

Gene expression profiles of poor-prognosis primary breast cancer correlate with survival
Hum. Mol. Genet. 2002 11: 863-872; doi:10.1093/hmg/11.8.863 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Shiming Chen, Qing-Liang Wang, Siqun Xu, Ivy Liu, Lili Y. Li, Yufang Wang, and Donald J. Zack

Functional analysis of cone–rod homeobox (CRX) mutations associated with retinal dystrophy
Hum. Mol. Genet. 2002 11: 873-884; doi:10.1093/hmg/11.8.873 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Juha Isosomppi, Jouni Vesa, Anu Jalanko, and Leena Peltonen

Lysosomal localization of the neuronal ceroid lipofuscinosis CLN5 protein
Hum. Mol. Genet. 2002 11: 885-891; doi:10.1093/hmg/11.8.885 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Patrick A. Navas, Qiliang Li, Kenneth R. Peterson, Richard A. Swank, Alex Rohde, Julianne Roy, and George Stamatoyannopoulos

Activation of the ß-like globin genes in transgenic mice is dependent on the presence of the ß-locus control region
Hum. Mol. Genet. 2002 11: 893-903; doi:10.1093/hmg/11.8.893 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Zhao-Xue Yu, Shi-Hua Li, Huu-Phuc Nguyen, and Xiao-Jiang Li

Huntingtin inclusions do not deplete polyglutamine-containing transcription factors in HD mice
Hum. Mol. Genet. 2002 11: 905-914; doi:10.1093/hmg/11.8.905 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Francesca Vitelli, Masae Morishima, Ilaria Taddei, Elizabeth A. Lindsay, and Antonio Baldini

Tbx1 mutation causes multiple cardiovascular defects and disrupts neural crest and cranial nerve migratory pathways
Hum. Mol. Genet. 2002 11: 915-922; doi:10.1093/hmg/11.8.915 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Nikolay O. Bukanov, Hervé Husson, William R. Dackowski, Brandon D. Lawrence, Patricia A. Clow, Bruce L. Roberts, Katherine W. Klinger, and Oxana Ibraghimov-Beskrovnaya

Functional polycystin-1 expression is developmentally regulated during epithelial morphogenesis in vitro: downregulation and loss of membrane localization during cystogenesis
Hum. Mol. Genet. 2002 11: 923-936; doi:10.1093/hmg/11.8.923 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Colin D. Bingle and C. Jeremy Craven

PLUNC: A novel family of candidate host defence proteins expressed in the upper airways and nasopharynx
Hum. Mol. Genet. 2002 11: 937-943; doi:10.1093/hmg/11.8.937 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Edmond Y. W. Chan, Jamal Nasir, Claire-Anne Gutekunst, Sarah Coleman, Alan Maclean, Alex Maas, Martina Metzler, Marina Gertsenstein, Christopher A. Ross, Andràs Nagy, and Michael R. Hayden

Targeted disruption of Huntingtin-associated protein-1 (Hap1) results in postnatal death due to depressed feeding behavior
Hum. Mol. Genet. 2002 11: 945-959; doi:10.1093/hmg/11.8.945 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Carol A. Wise, Joseph D. Gillum, Christine E. Seidman, Noralane M. Lindor, Rose Veile, Stavros Bashiardes, and Michael Lovett

Mutations in CD2BP1 disrupt binding to PTP PEST and are responsible for PAPA syndrome, an autoinflammatory disorder
Hum. Mol. Genet. 2002 11: 961-969; doi:10.1093/hmg/11.8.961 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Guido J. Breedveld, Jeroen W.F. van Dongen, Cesare Danesino, Andrea Guala, Alan K. Percy, Leon S. Dure, Peter Harper, Lazarus P. Lazarou, Herma van der Linde, Marijke Joosse, Annette Grüters, Marcy E. MacDonald, Bert B.A. de Vries, Willem Frans M. Arts, Ben A. Oostra, Heiko Krude, and Peter Heutink

Mutations in TITF-1 are associated with benign hereditary chorea
Hum. Mol. Genet. 2002 11: 971-979; doi:10.1093/hmg/11.8.971 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Thierry Bienvenu, Karine Poirier, Gaelle Friocourt, Nadia Bahi, Delphine Beaumont, Fabien Fauchereau, Lamia Ben Jeema, Ramzi Zemni, Marie-Claude Vinet, Fiona Francis, Philippe Couvert, Marie Gomot, Claude Moraine, Hans van Bokhoven, Vera Kalscheuer, Suzanne Frints, Josef Gecz, Kanae Ohzaki, Habiba Chaabouni, Jean-Pierre Fryns, Vincent Desportes, Cherif Beldjord, and Jamel Chelly

ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation
Hum. Mol. Genet. 2002 11: 981-991; doi:10.1093/hmg/11.8.981 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

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