Works matching IS 09646906 AND DT 2002 AND VI 11 AND IP 21

Results: 14

Skeletal, cardiac and tongue muscle pathology, defective retinal transmission, and neuronal migration defects in the Largemyd mouse defines a natural model for glycosylation-deficient muscle – eye – brain disorders.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 21, p. 2673, doi. 10.1093/hmg/11.21.2673

By:

Holzfeind, Paul J.;
Grewal, Prabhjit K.;
Reitsamer, Herbert A.;
Kechvar, Jasmin;
Lassmann, Hans;
Hoeger, Harald;
Hewitt, Jane E.;
Bittner, Reginald E.

Publication type:

Article

A non-essential function for yeast frataxin in iron–sulfur cluster assembly.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 21, p. 2635, doi. 10.1093/hmg/11.21.2635

By:

Duby, Geoffrey;
Foury, Françoise;
Ramazzotti, Anna;
Herrmann, Johannes;
Lutz, Thomas

Publication type:

Article

Single-nucleotide polymorphism haplotypes in the both proximal promoter and exon 3 of the APM1 gene modulate adipocyte-secreted adiponectin hormone levels and contribute to the genetic risk for type 2 diabetes in French Caucasians.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 21, p. 2607, doi. 10.1093/hmg/11.21.2607

By:

Vasseur, Francis;
Helbecque, Nicole;
Dina, Christian;
Lobbens, Stéphane;
Delannoy, Valérie;
Gaget, Stéphane;
Boutin, Philippe;
Vaxillaire, Martine;
Leprêtre, Frédéric;
Dupont, Sophie;
Hara, Kazuo;
Clément, Karine;
Bihain, Bernard;
Kadowaki, Takashi;
Froguel, Philippe

Publication type:

Article

The disintegrin/metalloprotease ADAM 10 is essential for Notch signalling but not for α-secretase activity in fibroblasts.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 21, p. 2615, doi. 10.1093/hmg/11.21.2615

By:

Hartmann, Dieter;
de Strooper, Bart;
Serneels, Lutgarde;
Craessaerts, Katleen;
Herreman, An;
Annaert, Wim;
Umans, Lieve;
Lübke, Torben;
Lena Illert, Anna;
von Figura, Kurt;
Saftig, Paul

Publication type:

Article

PACSIN 1 interacts with huntingtin and is absent from synaptic varicosities in presymptomatic Huntington's disease brains.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 21, p. 2547, doi. 10.1093/hmg/11.21.2547

By:

Modregger, Jan;
DiProspero, Nicholas A.;
Charles, Vinod;
Tagle, Danilo A.;
Plomann, Markus

Publication type:

Article

Mutation of the signal peptide region of the bicistronic gene DSPP affects translocation to the endoplasmic reticulum and results in defective dentine biomineralization.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 21, p. 2559, doi. 10.1093/hmg/11.21.2559

By:

Rajpar, M. Helen;
Koch, Martin J.;
Davies, Robin M.;
Mellody, Kieran T.;
Kielty, Cay M.;
Dixon, Michael J.

Publication type:

Article

Carriership of a defective tenascin-X gene in steroid 21-hydroxylase deficiency patients: TNXB –TNXA hybrids in apparent large-scale gene conversions.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 21, p. 2581, doi. 10.1093/hmg/11.21.2581

By:

Koppens, Paul F.J.;
Hoogenboezem, Theo;
Degenhart, Herman J.

Publication type:

Article

Suppression of polyglutamine toxicity by a Drosophila homolog of myeloid leukemia factor 1.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 21, p. 2657, doi. 10.1093/hmg/11.21.2657

By:

Kazemi-Esfarjani, Parsa;
Benzer, Seymour

Publication type:

Article

BRCA1 interacts directly with the Fanconi anemia protein FANCA.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 21, p. 2591, doi. 10.1093/hmg/11.21.2591

By:

Folias, Alexandra;
Matkovic, Mara;
Bruun, Donald;
Reid, Sonja;
Hejna, James;
Grompe, Markus;
D'Andrea, Alan;
Moses, Robb

Publication type:

Article

Evidence for an inflammatory bowel disease locus on chromosome 3p26: linkage, transmission/disequilibrium and partitioning of linkage.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 21, p. 2599, doi. 10.1093/hmg/11.21.2599

By:

Duerr, Richard H.;
Barmada, M. Michael;
Zhang, Leilei;
Achkar, Jean-Paul;
Cho, Judy H.;
Hanauer, Stephen B.;
Brant, Steven R.;
Bayless, Theodore M.;
Baldassano, Robert N.;
Weeks, Daniel E.

Publication type:

Article

Retention of pendrin in the endoplasmic reticulum is a major mechanism for Pendred syndrome.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 21, p. 2625, doi. 10.1093/hmg/11.21.2625

By:

Rotman-Pikielny, Pnina;
Hirschberg, Koret;
Maruvada, Padma;
Suzuki, Koichi;
Royaux, Ines E.;
Green, Eric D.;
Kohn, Leonard D.;
Lippincott-Schwartz, Jennifer;
Yen, Paul M.

Publication type:

Article

Overexpression of a calpastatin transgene in mdx muscle reduces dystrophic pathology.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 21, p. 2645, doi. 10.1093/hmg/11.21.2645

By:

Spencer, Melissa J.;
Mellgren, Ronald L.

Publication type:

Article

DNA cross-link-dependent RAD50/MRE11/NBS1 subnuclear assembly requires the Fanconi anemia C protein.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 21, p. 2531, doi. 10.1093/hmg/11.21.2531

By:

Pichierri, Pietro;
Averbeck, Dietrich;
Rosselli, Filippo

Publication type:

Article

Deletion of the mental retardation gene Gdi1 impairs associative memory and alters social behavior in mice.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 21, p. 2567, doi. 10.1093/hmg/11.21.2567

By:

D'Adamo, Patrizia;
Welzl, Hans;
Papadimitriou, Stavros;
Raffaele di Barletta, Marina;
Tiveron, Cecilia;
Tatangelo, Laura;
Pozzi, Laura;
Chapman, Paul F.;
Knevett, Simon G.;
Ramsay, Mark F.;
Valtorta, Flavia;
Leoni, Chiara;
Menegon, Andrea;
Wolfer, David P.;
Lipp, Hans-Peter;
Toniolo, Daniela

Publication type:

Article