Works matching IS 09646906 AND DT 2004 AND VI 13 AND IP 19

Results: 15

Calcium-permeable AMPA receptors promote misfolding of mutant SOD1 protein and development of amyotrophic lateral sclerosis in a transgenic mouse model.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 19, p. 2183, doi. 10.1093/hmg/ddh246

By:

Tateno, Minako;
Sadakata, Hisako;
Tanaka, Mika;
Itohara, Shigeyoshi;
Shin, Ryong-Moon;
Miura, Masami;
Masuda, Masao;
Aosaki, Toshihiko;
Urushitani, Makoto;
Misawa, Hidemi;
Takahashi, Ryosuke

Publication type:

Article

SNPs in the promoter of a B cell-specific antisense transcript, SAS-ZFAT, determine susceptibility to autoimmune thyroid disease.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 19, p. 2221, doi. 10.1093/hmg/ddh245

By:

Shirasawa, Senji;
Harada, Haruhito;
Furugaki, Koichi;
Akamizu, Takashi;
Ishikawa, Naofumi;
Ito, Kunihiko;
Ito, Koichi;
Tamai, Hajime;
Kuma, Kanji;
Kubota, Sumihisa;
Hiratani, Hitomi;
Tsuchiya, Tomoko;
Baba, Iwai;
Ishikawa, Mayuko;
Tanaka, Masao;
Sakai, Kenji;
Aoki, Masayuki;
Yamamoto, Ken;
Sasazuki, Takehiko

Publication type:

Article

Promoter-restricted histone code, not the differentially methylated DNA regions or antisense transcripts, marks the imprinting status of IGF2R in human and mouse.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 19, p. 2233

By:

Vu, Thanh H.;
Li, Tao;
Hoffman, Andrew R.

Publication type:

Article

Interactions between Sox10 and EdnrB modulate penetrance and severity of aganglionosis in the Sox10Dom mouse model of Hirschsprung disease.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 19, p. 2289, doi. 10.1093/hmg/ddh243

By:

Cantrell, V. Ashley;
Owens, Sarah E.;
Chandler, Ronald L.;
Airey, David C.;
Bradley, Kevin M.;
Smith, Jeffrey R.;
Southard-Smith, E. Michelle

Publication type:

Article

Functional expression and cellular distribution of diastrophic dysplasia sulfate transporter (DTDST) gene mutations in HEK cells.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 19, p. 2165, doi. 10.1093/hmg/ddh242

By:

Karniski, Lawrence P.

Publication type:

Article

Age-associated alteration of gene expression patterns in mouse oocytes.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 19, p. 2263, doi. 10.1093/hmg/ddh241

By:

Hamatani, Toshio;
Falco, Geppino;
Carter, Mark G.;
Akutsu, Hidenori;
Stagg, Carole A.;
Sharov, Alexei A.;
Dudekula, Dawood B.;
VanBuren, Vincent;
Ko, Minoru S.H.

Publication type:

Article

The AZFa gene DBY (DDX3Y) is widely transcribed but the protein is limited to the male germ cells by translation control.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 19, p. 2333, doi. 10.1093/hmg/ddh240

By:

Ditton, H.J.;
Zimmer, J.;
Kamp, C.;
Rajpert-De Meyts, E.;
Vogt, P.H.

Publication type:

Article

Genome-wide linkage analysis of a composite index of neuroticism and mood-related scales in extreme selected sibships.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 19, p. 2173, doi. 10.1093/hmg/ddh239

By:

Nash, Matthew W.;
Huezo-Diaz, Patricia;
Williamson, Richard J.;
Sterne, Abraham;
Purcell, Shaun;
Hoda, Farzana;
Cherny, Stacey S.;
Abecasis, Gonçalo R.;
Prince, Martin;
Gray, Jeffrey A.;
Ball, David;
Asherson, Philip;
Mann, Anthony;
Goldberg, David;
McGuffin, Peter;
Farmer, Anne;
Plomin, Robert;
Craig, Ian W.;
Sham, Pak C.

Publication type:

Article

Distinct patterns of KRAS mutations in colorectal carcinomas according to germline mismatch repair defects and hMLH1 methylation status.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 19, p. 2303, doi. 10.1093/hmg/ddh238

By:

Oliveira, Carla;
Westra, Jantine L.;
Arango, Diego;
Ollikainen, Miina;
Domingo, Enric;
Ferreira, Ana;
Velho, Sérgia;
Niessen, Renee;
Lagerstedt, Kristina;
Alhopuro, Pia;
Laiho, Paivi;
Veiga, Isabel;
Teixeira, Manuel R.;
Ligtenberg, Marjolijn;
Kleibeuker, Jan H.;
Sijmons, Rolf H.;
Plukker, John T.;
Imai, Kohzoh;
Lage, Pedro;
Hamelin, Richard

Publication type:

Article

Meta-analysis of genome-wide scans for hypertension and blood pressure in Caucasians shows evidence of susceptibility regions on chromosomes 2 and 3.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 19, p. 2325, doi. 10.1093/hmg/ddh237

By:

Koivukoski, Liisa;
Fisher, Sheila A.;
Kanninen, Timo;
Lewis, Cathryn M.;
von Wowern, Fredrik;
Hunt, Steven;
Kardia, Sharon L.R.;
Levy, Daniel;
Perola, Markus;
Rankinen, Tuomo;
Rao, Dabeeru C.;
Rice, Treva;
Thiel, Bonnie A.;
Melander, Olle

Publication type:

Article

Phenotypic analysis of neurofilament light gene mutations linked to Charcot-Marie-Tooth disease in cell culture models.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 19, p. 2207, doi. 10.1093/hmg/ddh236

By:

Perez-Olle, Raul;
Jones, Sidonie T.;
Liem, Ronald K.H.

Publication type:

Article

Biochemical analysis of pathogenic ligand-dependent FGFR2 mutations suggests distinct pathophysiological mechanisms for craniofacial and limb abnormalities.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 19, p. 2313, doi. 10.1093/hmg/ddh235

By:

Ibrahimi, Omar A.;
Zhang, Fuming;
Eliseenkova, Anna V.;
Itoh, Nobuyuki;
Linhardt, Robert J.;
Mohammadi, Moosa

Publication type:

Article

In vivo function of the conserved non-catalytic domain of Werner syndrome helicase in DNA replication.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 19, p. 2247, doi. 10.1093/hmg/ddh234

By:

Sharma, Sudha;
Sommers, Joshua A.;
Brosh, Robert M.

Publication type:

Article

A common haplotype at the CD36 locus is associated with high free fatty acid levels and increased cardiovascular risk in Caucasians.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 19, p. 2197

By:

Ma, Xiaowei;
Bacci, Simonetta;
Mlynarski, Wojciech;
Gottardo, Lucia;
Soccio, Teresa;
Menzaghi, Claudia;
Iori, Elisabetta;
Lager, Robert A.;
Shroff, Adhir R.;
Gervino, Ernest V.;
Nesto, Richard W.;
Johnstone, Michael T.;
Abumrad, Nada A.;
Avogaro, Angelo;
Trischitta, Vincenzo;
Doria, Alessandro

Publication type:

Article

The expression of human mitochondrial ferritin rescues respiratory function infrataxin-deficient yeast.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 19, p. 2279, doi. 10.1093/hmg/ddh232

By:

Campanella, Alessandro;
Isaya, Grazia;
O'Neill, Heather A.;
Santambrogio, Paolo;
Cozzi, Anna;
Arosio, Paolo;
Levi, Sonia

Publication type:

Article