Works matching IS 09646906 AND DT 2004 AND VI 13 AND IP 20

Results: 20

Single nucleotide polymorphisms in protein tyrosine phosphatase 1β (PTPN1) are associated with essential hypertension and obesity.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 20, p. 2545, doi. 10.1093/hmg/ddh283

By:

Olivier, Michael;
Hsiung, Chao A.;
Chuang, Lee-Ming;
Ho, Lo-Tone;
Ting, Chih-Tai;
Bustos, Valerie I.;
Lee, Teresa M.;
de Witte, Anniek;
Chen, Yii-Der I.;
Olshen, Richard;
Rodriguez, Beatriz;
Wen, Chi-Chung;
Cox, David R.

Publication type:

Article

An inducible null mutant murine model of Nijmegen breakage syndrome proves the essential function of NBS1 in chromosomal stability and cell viability.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 20, p. 2385, doi. 10.1093/hmg/ddh278

By:

Demuth, Ilja;
Frappart, Pierre-Olivier;
Hildebrand, Gabriele;
Melchers, Anna;
Lobitz, Stephan;
Stöckl, Lars;
Varon, Raymonda;
Herceg, Zdenko;
Sperling, Karl;
Wang, Zhao-Qi;
Digweed, Martin

Publication type:

Article

Hypermutability in a Drosophila model for multiple endocrine neoplasia type 1.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 20, p. 2399, doi. 10.1093/hmg/ddh271

By:

Busygina, Valeria;
Suphapeetiporn, Kanya;
Marek, Lorri R.;
Stowers, R. Steven;
Xu, Tian;
Bale, Allen E.

Publication type:

Article

A molecular pathogenesis for transcription factor associated poly-alanine tract expansions.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 20, p. 2351, doi. 10.1093/hmg/ddh277

By:

Albrecht, Andrea N.;
Kornak, Uwe;
Böddrich, Annett;
Süring, Kathrin;
Robinson, Peter N.;
Stiege, Asita C.;
Lurz, Rudi;
Stricker, Sigmar;
Wanker, Erich E.;
Mundlos, Stefan

Publication type:

Article

Disease associations and altered immune function in CD45 138G variant carriers.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 20, p. 2377, doi. 10.1093/hmg/ddh276

By:

Boxall, Sally;
Stanton, Tara;
Hirai, Kouzo;
Ward, Victoria;
Yasui, Tomoyo;
Tahara, Hideki;
Tamori, Akihiro;
Nishiguchi, Shuhei;
Shiomi, Susumu;
Ishiko, Osamu;
Inaba, Masaaki;
Nishizawa, Yoshiki;
Dawes, Ritu;
Bodmer, Walter;
Beverley, Peter C.L.;
Tchilian, Elma Z.

Publication type:

Article

Common DNase I polymorphism associated with autoantibody production among systemic lupus erythematosus patients.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 20, p. 2343, doi. 10.1093/hmg/ddh275

By:

Shin, Hyoung Doo;
Park, Byung Lae;
Kim, Lyoung Hyo;
Lee, Hye-Soon;
Kim, Think-You;
Bae, Sang-Cheol

Publication type:

Article

Transgenic overexpression of human DMPK accumulates into hypertrophic cardiomyopathy, myotonic myopathy and hypotension traits of myotonic dystrophy.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 20, p. 2505, doi. 10.1093/hmg/ddh266

By:

O'Cochlain, D. Fearghas;
Perez-Terzic, Carmen;
Reyes, Santiago;
Kane, Garvan C.;
Behfar, Atta;
Hodgson, Denice M.;
Strommen, Jeffrey A.;
Liu, Xiao-Ke;
van den Broek, Walther;
Wansink, Derick G.;
Wieringa, Bé;
Terzic, Andre

Publication type:

Article

Analysis of DNA ligase IV mutations found in LIG4 syndrome patients: the impact of two linked polymorphisms.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 20, p. 2369, doi. 10.1093/hmg/ddh274

By:

Girard, Pierre-Marie;
Kysela, Boris;
Härer, Christine J.;
Doherty, Aidan J.;
Jeggo, Penny A.

Publication type:

Article

A synonymous SNP of the corneodesmosin gene leads to increased mRNA stability and demonstrates association with psoriasis across diverse ethnic groups.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 20, p. 2361, doi. 10.1093/hmg/ddh273

By:

Capon, Francesca;
Allen, Michael H.;
Ameen, Mahreen;
Burden, A. David;
Tillman, David;
Barker, Jonathan N.;
Trembath, Richard C.

Publication type:

Article

Correction of aberrant FGFR1 alternative RNA splicing through targeting of intronic regulatory elements.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 20, p. 2409, doi. 10.1093/hmg/ddh272

By:

Bruno, Ivone G.;
Jin, Wei;
Cote, Gilbert J.

Publication type:

Article

Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 20, p. 2493, doi. 10.1093/hmg/ddh265

By:

Navarro, Claire L.;
De Sandre-Giovannoli, Annachiara;
Bernard, Rafaëlle;
Boccaccio, Irène;
Boyer, Amandine;
Geneviève, David;
Hadj-Rabia, Smail;
Gaudy-Marqueste, Caroline;
Smitt, Henk Sillevis;
Vabres, Pierre;
Faivre, Laurence;
Verloes, Alain;
Van Essen, Ton;
Flori, Elisabeth;
Hennekam, Raoul;
Beemer, Frits A.;
Laurent, Nicole;
Le Merrer, Martine;
Cau, Pierre;
Lévy, Nicolas

Publication type:

Article

Common variation in BRCA2 and breast cancer risk: a haplotype-based analysis in the Multiethnic Cohort.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 20, p. 2431, doi. 10.1093/hmg/ddh270

By:

Freedman, Matthew L.;
Penney, Kathryn L.;
Stram, Daniel O.;
Le Marchand, Loïc;
Hirschhorn, Joel N.;
Kolonel, Laurence N.;
Altshuler, David;
Henderson, Brian E.;
Haiman, Christopher A.

Publication type:

Article

RECQL4, mutated in the Rothmund–Thomson and RAPADILINO syndromes, interacts with ubiquitin ligases UBR1 and UBR2 of the N-end rule pathway.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 20, p. 2421, doi. 10.1093/hmg/ddh269

By:

Yin, Jinhu;
Kwon, Yong Tae;
Varshavsky, Alexander;
Wang, Weidong

Publication type:

Article

Gene profiling links SCA1 pathophysiology to glutamate signaling in Purkinje cells of transgenic mice.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 20, p. 2535, doi. 10.1093/hmg/ddh268

By:

Serra, Heliane G.;
Byam, Courtney E.;
Lande, Jeffrey D.;
Tousey, Susan K.;
Zoghbi, Huda Y.;
Orr, Harry T.

Publication type:

Article

Nuclear DNA-encoded tRNAs targeted into mitochondria can rescue a mitochondrial DNA mutation associated with the MERRF syndrome in cultured human cells.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 20, p. 2519, doi. 10.1093/hmg/ddh267

By:

Kolesnikova, Olga A.;
Entelis, Nina S.;
Jacquin-Becker, Clarisse;
Goltzene, Francine;
Chrzanowska-Lightowlers, Zofia M.;
Lightowlers, Robert N.;
Martin, Robert P.;
Tarassov, Ivan

Publication type:

Article

Mutations in classical late infantile neuronal ceroid lipofuscinosis disrupt transport of tripeptidyl-peptidase I to lysosomes.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 20, p. 2483, doi. 10.1093/hmg/ddh264

By:

Steinfeld, Robert;
Steinke, Hans-Bertram;
Isbrandt, Dirk;
Kohlschütter, Alfried;
Gärtner, Jutta

Publication type:

Article

Mutations in ichthyin a new gene on chromosome 5q33 in a new form of autosomal recessive congenital ichthyosis.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 20, p. 2473

By:

Lefèvre, Caroline;
Bouadjar, Bakar;
Karaduman, Aysen;
Jobard, Florence;
Saker, Safa;
Özguc, Meral;
Lathrop, Mark;
Prud'homme, Jean-François;
Fischer, Judith

Publication type:

Article

Human mitochondrial complex I assembles through the combination of evolutionary conserved modules: a framework to interpret complex I deficiencies.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 20, p. 2461, doi. 10.1093/hmg/ddh262

By:

Ugalde, Cristina;
Vogel, Rutger;
Huijbens, Richard;
van den Heuvel, Bert;
Smeitink, Jan;
Nijtmans, Leo

Publication type:

Article

BRCA1 mRNA expression levels as an indicator of chemoresistance in lung cancer.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 20, p. 2443, doi. 10.1093/hmg/ddh260

By:

Taron, Miquel;
Rosell, Rafael;
Felip, Enriqueta;
Mendez, Pedro;
Souglakos, John;
Ronco, Maria Sanchez;
Queralt, Cristina;
Majo, Joaquim;
Sanchez, Jose Miguel;
Sanchez, Jose Javier;
Maestre, Jose

Publication type:

Article

Reduced hepatic expression of farnesoid X receptor in hereditary cholestasis associated to mutation in ATP8B1.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 20, p. 2451, doi. 10.1093/hmg/ddh261

By:

Alvarez, Luis;
Jara, Paloma;
Sánchez-Sabaté, Elena;
Hierro, Loreto;
Larrauri, Javier;
Díaz, María C.;
Camarena, Carmen;
De la Vega, Angela;
Frauca, Esteban;
López-Collazo, Eduardo;
Lapunzina, Pablo

Publication type:

Article