Works matching IS 09646906 AND DT 2002 AND VI 11 AND IP 5

Results: 14

Mutations in the RPGR genecause X-linked cone dystrophy.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 5, p. 605, doi. 10.1093/hmg/11.5.605

By:

Yang, Zhenglin;
Peachey, Neal S.;
Moshfeghi, DariusM.;
Thirumalaichary, Sukanya;
Chorich, Lou;
Shugart, YinY.;
Fan, Keke;
Zhang, Kang

Publication type:

Article

A Gja8 (Cx50)point mutation causes an alteration of α3 connexin (Cx46) in semi-dominantcataracts of Lop10 mice.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 5, p. 507, doi. 10.1093/hmg/11.5.507

By:

Chang, Bo;
Wang, Xin;
Hawes, Norman L.;
Ojakian, Ryan;
Davisson, Muriel T.;
Lo, Woo-Kuen;
Gong, Xiaohua

Publication type:

Article

Different evolutionary processesshaped the mouse and human olfactory receptor gene families.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 5, p. 535, doi. 10.1093/hmg/11.5.535

By:

Young, Janet M.;
Friedman, Cynthia;
Williams, EleanorM.;
Ross, JosephA.;
Tonnes-Priddy, Lori;
Trask, BarbaraJ.

Publication type:

Article

Molecular chaperones enhancethe degradation of expanded polyglutamine repeat androgen receptorin a cellular model of spinal and bulbar muscular atrophy.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 5, p. 515, doi. 10.1093/hmg/11.5.515

By:

Bailey, Christine K.;
Andriola, IsabellaF. M.;
Kampinga, HarmH.;
Merry, DianeE.

Publication type:

Article

Mutations in the inosine monophosphate dehydrogenase1 gene (IMPDH1) cause the RP10 form of autosomal dominant retinitispigmentosa.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 5, p. 559, doi. 10.1093/hmg/11.5.559

By:

Bowne, Sara J.;
Sullivan, Lori S.;
Blanton, Susan H.;
Cepko, ConstanceL.;
Blackshaw, Seth;
Birch, DavidG.;
Hughbanks-Wheaton, Dianna;
Heckenlively, John R.;
Daiger, Stephen P.

Publication type:

Article

A mouse model of TSC1 revealssex-dependent lethality from liver hemangiomas, and up-regulation of p70S6 kinase activity in Tsc1 null cells.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 5, p. 525, doi. 10.1093/hmg/11.5.525

By:

Kwiatkowski, David J.;
Zhang, Hongbing;
Bandura, JenniferL.;
Heiberger, KristinaM.;
Glogauer, Michael;
el-Hashemite, Nisreen;
Onda, Hiroaki

Publication type:

Article

Identification of an IMPDH1 mutationin autosomal dominant retinitis pigmentosa (RP10) revealed followingcomparative microarray analysis of transcripts derived from retinasof wild-type and Rho–/– mice.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 5, p. 547, doi. 10.1093/hmg/11.5.547

By:

Kennan, Avril;
Aherne, Aileen;
Palfi, Arpad;
Humphries, Marian;
McKee, Alex;
Stitt, Alan;
Simpson, David A. C.;
Demtroder, Karin;
Orntoft, Torben;
Ayuso, Carmen;
Kenna, Paul F.;
Farrar, G. Jane;
Humphries, Pete

Publication type:

Article

Human deafness dystonia syndromeis caused by a defect in assembly of the DDP1/TIMM8a–TIMM13 complex.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 5, p. 477, doi. 10.1093/hmg/11.5.477

By:

Roesch, Karin;
Curran, SeanP.;
Tranebjaerg, Lisbeth;
Koehler, Carla M.

Publication type:

Article

The role of matrix metalloproteinasepolymorphisms in the rate of decline in lung function.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 5, p. 569, doi. 10.1093/hmg/11.5.569

By:

Joos, Ladina;
He, Jian-Qing;
Shepherdson, MeganB.;
Connett, JohnE.;
Anthonisen, Nicholas R.;
Paré, Peter D.;
Sandford, AndrewJ.

Publication type:

Article

A frequent mild mutation in ALG6 may exacerbate the clinical severity of patientswith congenital disorder of glycosylation Ia (CDG-Ia) caused by phosphomannomutasedeficiency.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 5, p. 599, doi. 10.1093/hmg/11.5.599

By:

Westphal, Vibeke;
Kjaergaard, Susanne;
Schollen, Els;
Martens, Kevin;
Grunewald, Stephanie;
Schwartz, Marianne;
Matthijs, Gert;
Freeze, Hudson H.

Publication type:

Article

SRp30c-dependent stimulationof survival motor neuron (SMN)exon 7 inclusion is facilitated by a direct interaction with hTra2β1.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 5, p. 577, doi. 10.1093/hmg/11.5.577

By:

Young, Philip J.;
DiDonato, ChristineJ.;
Hu, Diane;
Kothary, Rashmi;
Androphy, Elliot J.;
Lorson, ChristianL.

Publication type:

Article

Coding haplotype analysis supportsHCR as the putative susceptibility gene for psoriasis at the MHC PSORS1locus.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 5, p. 589, doi. 10.1093/hmg/11.5.589

By:

Asumalahti, Kati;
Veal, Colin;
Laitinen, Tarja;
Suomela, Sari;
Allen, Michael;
Elomaa, Outi;
Moser, Michael;
deCid, Rafael;
Ripatti, Samuli;
Vorechovsky, Igor;
Marcusson, Jan A.;
Nakagawa, Hidemi;
Lazaro, Conxi;
Estivill, Xavier;
Capon, Francesca;
Novelli, Giuseppe;
The Psoriasis Consortium;
Saarialho-Kere, Ulpu;
Barker, Jonathan;
Trembath, Richard

Publication type:

Article

Knockout mouse model for Fxr2:a model for mental retardation.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 5, p. 487, doi. 10.1093/hmg/11.5.487

By:

Bontekoe, Carola J. M.;
McIlwain, Kellie L.;
Nieuwenhuizen, Ingeborg M.;
Yuva-Paylor, Lisa A.;
Nellis, Anna;
Willemsen, Rob;
Fang, Zhe;
Kirkpatrick, Laura;
Bakker, Cathy E.;
McAninch, Robin;
Cheng, Ngan Ching;
Merriweather, Michelle;
Hoogeveen, Andre T.;
Nelson, David;
Paylor, Richard;
Oostra, BenA.

Publication type:

Article

Late onset neurological phenotypeof the X-ALD gene inactivation in mice: a mouse model for adrenomyeloneuropathy.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 5, p. 499, doi. 10.1093/hmg/11.5.499

By:

Pujol, Aurora;
Hindelang, Colette;
Callizot, Noëlle;
Bartsch, Udo;
Schachner, Melitta;
Mandel, Jean Louis

Publication type:

Article