Human Molecular Genetics

ARTICLES:

Michelle Mills, Nan Yang, Ron Weinberger, Douglas L. Vander Woude, Alan H. Beggs, Simon Easteal, and Kathryn North

Differential expression of the actin-binding proteins, -actinin-2 and -3, in different species: implications for the evolution of functional redundancy
Hum. Mol. Genet. 2001 10: 1335-1346; doi:10.1093/hmg/10.13.1335 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

REPORTS:

Marie-Eve Paquet, Nadia Pece-Barbara, Sonia Vera, Urszula Cymerman, Amna Karabegovic, Claire Shovlin, and Michelle Letarte

Analysis of several endoglin mutants reveals no endogenous mature or secreted protein capable of interfering with normal endoglin function
Hum. Mol. Genet. 2001 10: 1347-1357; doi:10.1093/hmg/10.13.1347 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Ulrike E.A. Pesch, Beate Leo-Kottler, Simone Mayer, Bernhard Jurklies, Ulrich Kellner, Eckart Apfelstedt-Sylla, Eberhart Zrenner, Christiane Alexander, and Bernd Wissinger

OPA1 mutations in patients with autosomal dominant optic atrophy and evidence for semi-dominant inheritance
Hum. Mol. Genet. 2001 10: 1359-1368; doi:10.1093/hmg/10.13.1359 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Carmel Toomes, Nicola J. Marchbank, David A. Mackey, Jamie E. Craig, Ruth A. Newbury-Ecob, Chris P. Bennett, Colin J. Vize, Shrivatsa P. Desai, Graeme C.M. Black, Nishal Patel, Masoud Teimory, Alexander F. Markham, Chris F. Inglehearn, and Amanda J. Churchill

Spectrum, frequency and penetrance of OPA1 mutations in dominant optic atrophy
Hum. Mol. Genet. 2001 10: 1369-1378; doi:10.1093/hmg/10.13.1369 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Kenji Sakai, Senji Shirasawa, Naofumi Ishikawa, Kunihiko Ito, Hajime Tamai, Kanji Kuma, Takashi Akamizu, Masako Tanimura, Koichi Furugaki, Ken Yamamoto, and Takehiko Sasazuki

Identification of susceptibility loci for autoimmune thyroid disease to 5q31–q33 and Hashimoto’s thyroiditis to 8q23–q24 by multipoint affected sib-pair linkage analysis in Japanese
Hum. Mol. Genet. 2001 10: 1379-1386; doi:10.1093/hmg/10.13.1379 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Catalina López-Correa, Michael Dorschner, Hilde Brems, Conxi Lázaro, Maurizio Clementi, Meena Upadhyaya, Dennis Dooijes, Ute Moog, Hildegard Kehrer-Sawatzki, J. Lynn Rutkowski, Jean-Pierre Fryns, Peter Marynen, Karen Stephens, and Eric Legius

Recombination hotspot in NF1 microdeletion patients
Hum. Mol. Genet. 2001 10: 1387-1392; doi:10.1093/hmg/10.13.1387 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Junko Matsui, Yuji Goto, and Nobuo Takagi

Control of Xist expression for imprinted and random X chromosome inactivation in mice
Hum. Mol. Genet. 2001 10: 1393-1401; doi:10.1093/hmg/10.13.1393 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Céline Morey, Danielle Arnaud, Philip Avner, and Philippe Clerc

Tsix-mediated repression of Xist accumulation is not sufficient for normal random X inactivation
Hum. Mol. Genet. 2001 10: 1403-1411; doi:10.1093/hmg/10.13.1403 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Dominic J. Smiraglia, Laura J. Rush, Michael C. Frühwald, Zunyan Dai, William A. Held, Joseph F. Costello, James C. Lang, Charis Eng, Bin Li, Fred A. Wright, Michael A. Caligiuri, and Christoph Plass

Excessive CpG island hypermethylation in cancer cell lines versus primary human malignancies
Hum. Mol. Genet. 2001 10: 1413-1419; doi:10.1093/hmg/10.13.1413 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Masayuki Sekine, Hiroshi Nagata, Shoji Tsuji, Yasuo Hirai, Seiichiro Fujimoto, Masayuki Hatae, Iwao Kobayashi, Tsuneo Fujii, Ichiro Nagata, Kimio Ushijima, Koshiro Obata, Mitsuaki Suzuki, Mitsuhiro Yoshinaga, Naohiko Umesaki, Shinji Satoh, Takayuki Enomoto, Satoru Motoyama, Kenichi Tanaka, and The Japanese Familial Ovarian Cancer Study Group

Localization of a novel susceptibility gene for familial ovarian cancer to chromosome 3p22–p25
Hum. Mol. Genet. 2001 10: 1421-1429; doi:10.1093/hmg/10.13.1421 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Amit K. Das, Jui-Yun Lu, and Sandra L. Hofmann

Biochemical analysis of mutations in palmitoyl-protein thioesterase causing infantile and late-onset forms of neuronal ceroid lipofuscinosis
Hum. Mol. Genet. 2001 10: 1431-1439; doi:10.1093/hmg/10.13.1431 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

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