Works matching IS 09646906 AND DT 2003 AND VI 12 AND IP 24

Results: 20

Mouse model of N-acetylgalactosamine-6-sulfate sulfatase deficiency (Galns−/−) produced by targeted disruption of the gene defective in Morquio A disease.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 24, p. 3349, doi. 10.1093/hmg/ddg366

By:

Tomatsu, Shunji;
Orii, Koji O.;
Vogler, Carole;
Nakayama, Jun;
Levy, Beth;
Grubb, Jeffrey H.;
Gutierrez, Monica A.;
Shim, Soomin;
Yamaguchi, Seiji;
Nishioka, Tatsuo;
Montaño, Adriana Maria;
Noguchi, Akihiko;
Orii, Tadao;
Kondo, Naomi;
Sly, William S.

Publication type:

Article

Functional interaction between BMPR-II and Tctex-1, a light chain of Dynein, is isoform-specific and disrupted by mutations underlying primary pulmonary hypertension.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 24, p. 3277, doi. 10.1093/hmg/ddg365

By:

Machado, Rajiv D.;
Rudarakanchana, Nung;
Atkinson, Carl;
Flanagan, Julia A.;
Harrison, Rachel;
Morrell, Nicholas W.;
Trembath, Richard C.

Publication type:

Article

Molecular interaction of connexin 30.3 and connexin 31 suggests a dominant-negative mechanism associated with erythrokeratodermia variabilis.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 24, p. 3287, doi. 10.1093/hmg/ddg364

By:

Plantard, Laure;
Huber, Marcel;
Macari, Francoise;
Meda, Paolo;
Hohl, Daniel

Publication type:

Article

Complement factor H mutations and gene polymorphisms in haemolytic uraemic syndrome: the C-257T, the A2089G and the G2881T polymorphisms are strongly associated with the disease.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 24, p. 3385, doi. 10.1093/hmg/ddg363

By:

Caprioli, Jessica;
Castelletti, Federica;
Bucchioni, Sara;
Bettinaglio, Paola;
Bresin, Elena;
Pianetti, Gaia;
Gamba, Sara;
Brioschi, Simona;
Daina, Erica;
Remuzzi, Giuseppe;
Noris, Marina

Publication type:

Article

Abnormalities of the vitreoretinal interface caused by dysregulated Hedgehog signaling during retinal development.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 24, p. 3269, doi. 10.1093/hmg/ddg356

By:

Black, Graeme C.M.;
Mazerolle, Chantal J.;
Wang, Yaping;
Campsall, Katrina D.;
Petrin, Dino;
Leonard, Brian C.;
Damji, Karim F.;
Evans, D. Gareth;
McLeod, David;
Wallace, Valerie A.

Publication type:

Article

Functional haplotypes of the RET proto-oncogene promoter are associated with Hirschsprung disease (HSCR).

Published in:

Human Molecular Genetics, 2003, v. 12, n. 24, p. 3207, doi. 10.1093/hmg/ddg354

By:

Fitze, Guido;
Appelt, Hella;
König, Inke R.;
Görgens, Heike;
Stein, Ulrike;
Walther, Wolfgang;
Gossen, Manfred;
Schreiber, Matthias;
Ziegler, Andreas;
Roesner, Dietmar;
Schackert, Hans K.

Publication type:

Article

Parent-of-origin effects on handedness and schizophrenia susceptibility on chromosome 2p12–q11.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 24, p. 3225, doi. 10.1093/hmg/ddg362

By:

Francks, Clyde;
DeLisi, Lynn E.;
Shaw, Sarah H.;
Fisher, Simon E.;
Richardson, Alex J.;
Stein, John F.;
Monaco, Anthony P.

Publication type:

Article

PCDH15 is expressed in the neurosensory epithelium of the eye and ear and mutant alleles are responsible for both USH1F and DFNB23.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 24, p. 3215, doi. 10.1093/hmg/ddg358

By:

Ahmed, Zubair M.;
Riazuddin, Saima;
Ahmad, Jamil;
Bernstein, Steve L.;
Guo, Yan;
Sabar, Muhammad F.;
Sieving, Paul;
Riazuddin, Sheikh;
Griffith, Andrew J.;
Friedman, Thomas B.;
Belyantseva, Inna A.;
Wilcox, Edward R.

Publication type:

Article

Glutathione S-transferase omega-1 modifiesage-at-onset of Alzheimer disease and Parkinson disease.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 24, p. 3259, doi. 10.1093/hmg/ddg357

By:

Li, Yi-Ju;
Oliveira, Sofia A.;
Xu, Puting;
Martin, Eden R.;
Stenger, Judith E.;
Scherzer, Clemens R.;
Hauser, Michael A.;
Scott, William K.;
Small, Gary W.;
Nance, Martha A.;
Watts, Ray L.;
Hubble, Jean P.;
Koller, William C.;
Pahwa, Rajesh;
Stern, Mathew B.;
Hiner, Bradley C.;
Jankovic, Joseph;
Goetz, Christopher G.;
Mastaglia, Frank;
Middleton, Lefkos T.

Publication type:

Article

Hnf6 and Tcf2 (MODY5) are linked in a gene network operating in a precursor cell domain of the embryonic pancreas.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 24, p. 3307, doi. 10.1093/hmg/ddg355

By:

Maestro, Miguel A.;
Boj, Sylvia F.;
Luco, Reini F.;
Pierreux, Christophe E.;
Cabedo, Judit;
Servitja, Joan M.;
German, Michael S.;
Rousseau, Guy G.;
Lemaigre, Frédéric P.;
Ferrer, Jorge

Publication type:

Article

Molecular basis of the functional podocin–nephrin complex: mutations in the NPHS2 gene disrupt nephrin targeting to lipid raft microdomains.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 24, p. 3397, doi. 10.1093/hmg/ddg360

By:

Huber, Tobias B.;
Simons, Matias;
Hartleben, Björn;
Sernetz, Leonie;
Schmidts, Miriam;
Gundlach, Enken;
Saleem, Moin A.;
Walz, Gerd;
Benzing, Thomas

Publication type:

Article

Impact of selection, mutation rate and genetic drift on human genetic variation.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 24, p. 3325, doi. 10.1093/hmg/ddg359

By:

Sunyaev, Shamil;
Kondrashov, Fyodor A.;
Bork, Peer;
Ramensky, Vasily

Publication type:

Article

Allelism of MCKD, FJHN and GCKD caused by impairment of uromodulin export dynamics.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 24, p. 3369, doi. 10.1093/hmg/ddg353

By:

Rampoldi, Luca;
Caridi, Gianluca;
Santon, Daniela;
Boaretto, Francesca;
Bernascone, Ilenia;
Lamorte, Giuseppe;
Tardanico, Regina;
Dagnino, Monica;
Colussi, Giacomo;
Scolari, Francesco;
Ghiggeri, Gian Marco;
Amoroso, Antonio;
Casari, Giorgio

Publication type:

Article

Dramatic tissue-specific mutation length increases are an early molecular event in Huntington disease pathogenesis.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 24, p. 3359, doi. 10.1093/hmg/ddg352

By:

Kennedy, Laura;
Evans, Elizabeth;
Chen, Chiung-Mei;
Craven, Lyndsey;
Detloff, Peter J.;
Ennis, Margaret;
Shelbourne, Peggy F.

Publication type:

Article

Promoter-restricted H3 Lys 4 di-methylation is an epigenetic mark for monoallelic expression.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 24, p. 3343, doi. 10.1093/hmg/ddg351

By:

Rougeulle, Claire;
Navarro, Pablo;
Avner, Philip

Publication type:

Article

Phosphorylation influences the translation state of FMRP-associated polyribosomes.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 24, p. 3295, doi. 10.1093/hmg/ddg350

By:

Ceman, Stephanie;
O'Donnell, William T.;
Reed, Matt;
Patton, Stephana;
Pohl, Jan;
Warren, Stephen T.

Publication type:

Article

Reduction in frataxin causes progressive accumulation of mitochondrial damage.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 24, p. 3331, doi. 10.1093/hmg/ddg349

By:

Karthikeyan, Gopalakrishnan;
Santos, Janine H.;
Graziewicz, Maria A.;
Copeland, William C.;
Isaya, Grazia;
Houten, Bennett Van;
Resnick, Michael A.

Publication type:

Article

Analysis of the ARMD1 locus: evidence that a mutation in HEMICENTIN-1 is associated with age-related macular degeneration in a large family.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 24, p. 3315, doi. 10.1093/hmg/ddg348

By:

Schultz, Dennis W.;
Klein, Michael L.;
Humpert, Andrea J.;
Luzier, Christina W.;
Persun, Vesna;
Schain, Mitchell;
Mahan, Alison;
Runckel, Charles;
Cassera, Maria;
Vittal, Vasavi;
Doyle, Trudy M.;
Martin, Tammy M.;
Weleber, Richard G.;
Francis, Peter J.;
Acott, Ted S.

Publication type:

Article

Autophagy regulates the processing of amino terminal huntingtin fragments.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 24, p. 3231, doi. 10.1093/hmg/ddg346

By:

Qin, Zheng-Hong;
Wang, Yumei;
Kegel, Kimberly B.;
Kazantsev, Aleksey;
Apostol, Barbara L.;
Thompson, Leslie Michels;
Yoder, Jennifer;
Aronin, Neil;
DiFiglia, Marian

Publication type:

Article

Classifying the estrogen receptor status of breast cancers by expression profiles reveals a poor prognosis subpopulation exhibiting high expression of the ERBB2 receptor.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 24, p. 3245, doi. 10.1093/hmg/ddg347

By:

Kun, Yu;
How, Lee Chee;
Hoon, Tan Puay;
Bajic, Vladimir B.;
Lam, Tan Sin;
Aggarwal, Amit;
Sze, Hong Ga;
Bok, Wee Siew;
Yin, Wong Chow;
Tan, Patrick

Publication type:

Article