Works matching IS 09646906 AND DT 2003 AND VI 12 AND IP 16

Results: 15

Targeted disruption of exons 1 to 6 of the Fanconi Anemia group A gene leads to growth retardation, strain-specific microphthalmia, meiotic defects and primordial germ cell hypoplasia.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 16, p. 2063, doi. 10.1093/hmg/ddg219

By:

Wong, Jasmine C.Y.;
Alon, Noa;
Mckerlie, Colin;
Huang, Jun R.;
Meyn, M. Stephen;
Buchwald, Manuel

Publication type:

Article

Abnormal association of mutant huntingtin with synaptic vesicles inhibits glutamate release.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 16, p. 2021, doi. 10.1093/hmg/ddg218

By:

Li, He;
Wyman, Travis;
Yu, Zhao-Xue;
Li, Shi-Hua;
Li, Xiao-Jiang

Publication type:

Article

Global disruption of the cerebellar transcriptome in a Down syndrome mouse model.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 16, p. 2013, doi. 10.1093/hmg/ddg217

By:

Saran, Nidhi G.;
Pletcher, Mathew T.;
Natale, JoAnne E.;
Cheng, Ying;
Reeves, Roger H.

Publication type:

Article

TBX1 is required for inner ear morphogenesis.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 16, p. 2041, doi. 10.1093/hmg/ddg216

By:

Vitelli, Francesca;
Viola, Antonella;
Morishima, Masae;
Pramparo, Tiziano;
Baldini, Antonio;
Lindsay, Elizabeth

Publication type:

Article

Characterization of disease-associated mutations affecting an exonic splicing enhancer and two cryptic splice sites in exon 13 of the cystic fibrosis transmembrane conductance regulator gene.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 16, p. 2031, doi. 10.1093/hmg/ddg215

By:

Aznarez, Isabel;
Chan, Elayne M.;
Zielenski, Julian;
Blencowe, Benjamin J.;
Tsui, Lap-Chee

Publication type:

Article

Wolfram syndrome: structural and functional analyses of mutant and wild-type wolframin, the WFS1 gene product.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 16, p. 2003, doi. 10.1093/hmg/ddg214

By:

Hofmann, Sabine;
Philbrook, Christine;
Gerbitz, Klaus-Dieter;
Bauer, Matthias F.

Publication type:

Article

Zinc metalloproteinase, ZMPSTE24, is mutated in mandibuloacral dysplasia.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 16, p. 1995, doi. 10.1093/hmg/ddg213

By:

Agarwal, Anil K.;
Fryns, Jean-Pierre;
Auchus, Richard J.;
Garg, Abhimanyu

Publication type:

Article

A genomic rearrangement resulting in a tandem duplication is associated with split hand–split foot malformation 3 (SHFM3) at 10q24.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 16, p. 1959, doi. 10.1093/hmg/ddg212

By:

de Mollerat, Xavier J.;
Gurrieri, Fiorella;
Morgan, Chad T.;
Sangiorgi, Eugenio;
Everman, David B.;
Gaspari, Paola;
Amiel, Jeanne;
Bamshad, Michael J.;
Lyle, Robert;
Blouin, Jean-Louis;
Allanson, Judith E.;
Le Marec, Bernard;
Wilson, Melba;
Braverman, Nancy E.;
Radhakrishna, Uppala;
Delozier-Blanchet, Celia;
Abbott, Albert;
Elghouzzi, Vincent;
Antonarakis, Stylianos;
Stevenson, Roger E.

Publication type:

Article

Ubiquitin carboxy-terminal hydrolase L1 binds to and stabilizes monoubiquitin in neuron.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 16, p. 1945, doi. 10.1093/hmg/ddg211

By:

Osaka, Hitoshi;
Wang, Yu-Lai;
Takada, Koji;
Takizawa, Shuichi;
Setsuie, Rieko;
Li, Hang;
Sato, Yae;
Nishikawa, Kaori;
Sun, Ying-Jie;
Sakurai, Mikako;
Harada, Takayuki;
Hara, Yoko;
Kimura, Ichiro;
Chiba, Shigeru;
Namikawa, Kazuhiko;
Kiyama, Hiroshi;
Noda, Mami;
Aoki, Shunsuke;
Wada, Keiji

Publication type:

Article

Claudin 14 knockout mice, a model for autosomal recessive deafness DFNB29, are deaf due to cochlear hair cell degeneration.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 16, p. 2049, doi. 10.1093/hmg/ddg210

By:

Ben-Yosef, Tamar;
Belyantseva, Inna A.;
Saunders, Thomas L.;
Hughes, Elizabeth D.;
Kawamoto, Kohei;
Van Itallie, Christina M.;
Beyer, Lisa A.;
Halsey, Kärin;
Gardner, Donald J.;
Wilcox, Edward R.;
Rasmussen, Julia;
Anderson, James M.;
Dolan, David F.;
Forge, Andrew;
Raphael, Yehoash;
Camper, Sally A.;
Friedman, Thomas B.

Publication type:

Article

Fgd1, the Cdc42 GEF responsible for Faciogenital Dysplasia, directly interacts with cortactin and mAbp1 to modulate cell shape.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 16, p. 1981, doi. 10.1093/hmg/ddg209

By:

Hou, Peng;
Estrada, Lourdes;
Kinley, Andrew W.;
Parsons, J. Thomas;
Vojtek, Anne B.;
Gorski, Jerome L.

Publication type:

Article

Chromosome 12q harbors multiple genetic loci related to asthma and asthma-related phenotypes.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 16, p. 1973, doi. 10.1093/hmg/ddg208

By:

Raby, Benjamin A.;
Silverman, Edwin K.;
Lazarus, Ross;
Lange, Christoph;
Kwiatkowski, David J.;
Weiss, Scott T.

Publication type:

Article

Genome-wide linkage analysis of bronchodilator responsiveness and post-bronchodilator spirometric phenotypes in chronic obstructive pulmonary disease.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 16, p. 2085, doi. 10.1093/hmg/ddg207

By:

Palmer, Lyle J.;
Celedón, Juan C.;
Chapman, Harold A.;
Speizer, Frank E.;
Weiss, Scott T.;
Silverman, Edwin K.

Publication type:

Article

A genome wide scan for early onset primary hypertension in Scandinavians.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 16, p. 2077, doi. 10.1093/hmg/ddg206

By:

von Wowern, Fredrik;
Bengtsson, Kristina;
Lindgren, Cecilia M.;
Orho-Melander, Marju;
Fyhrquist, Frej;
Lindblad, Ulf;
Råstam, Lennart;
Forsblom, Carol;
Kanninen, Timo;
Almgren, Peter;
Burri, Philippe;
Katzman, Per;
Groop, Leif;
Hulthén, U. Lennart;
Melander, Olle

Publication type:

Article

Association of Eotaxin gene family with asthma and serum total IgE.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 16, p. 2083, doi. 10.1093/hmg/ddg205

By:

Shin, Hyoung Doo;
Kim, Lyoung Hyo;
Park, Byung Lae;
Jung, Ji Hyun;
Kim, Jun Yeon;
Chung, Il-Yup;
Kim, Jung Sun;
Lee, June Hyuk;
Chung, Sun Hee;
Kim, Yong Hoon;
Park, Hae-Sim;
Choi, Jeong Hee;
Lee, Young Mok;
Park, Sung Woo;
Choi, Byoung Whui;
Hong, Soo-Jong;
Park, Choon-Sik

Publication type:

Article