Works matching IS 09646906 AND DT 2001 AND VI 10 AND IP 16

Results: 27

The melanocortin-1-receptor gene is the major freckle gene.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 16, p. 1701, doi. 10.1093/hmg/10.16.1701

By:

Bastiaens, Maarten;
ter Huurne, Jeanette;
Gruis, Nelleke;
Bergman, Wilma;
Westendorp, Rudi;
Vermeer, Bert-Jan;
Bouwes Bavinck, Jan-Nico

Publication type:

Article

Functional analyses of two newly identified PITX2 mutants reveal a novel molecular mechanism for Axenfeld-Rieger syndrome.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 16, p. 1631, doi. 10.1093/hmg/10.16.1631

By:

Priston, Megan;
Kozlowski, Kathy;
Gill, Dan;
Letwin, Ken;
Buys, Yvonne;
Levin, Alex V.;
Walter, Mike A.;
Héon, Elise

Publication type:

Article

Mutations in the novel protocadherin PCDH15 cause Usher syndrome type 1F.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 16, p. 1709, doi. 10.1093/hmg/10.16.1709

By:

Alagramam, Kumar N.;
Huijun Yuan;
Kuehn, Markus H.;
Murcia, Crystal L.;
Wayne, Sigrid;
Srisailpathy, C. R. Srikumari;
Lowry, R. Brian;
Knaus, Russell;
Van Laer, Lut;
F. P., F. P.;
Schwartz, Stuart;
Lee, Charles;
Morton, Cynthia C.;
Mullins, Robert F.;
Ramesh, Arabandi;
Van Camp, Guy;
Hagemen, Gregory S.;
Woychik, Richard P.;
Smith, Richard J. H.

Publication type:

Article

Instability of a (CGG)9<sub>8</sub> repeat in the Fmr1 promoter.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 16, p. 1693, doi. 10.1093/hmg/10.16.1693

By:

Bontekoe, C. J. M.;
Bakker, C. E.;
Nieuwenhuizen, I. M.;
van der Linde, H.;
Lans, H.;
de Lange, D.;
Hirst, M. C.;
Oostra, B. A.

Publication type:

Article

SCA7 mouse models show selective stabilization of mutant ataxin-7 and similar cellular responses in different neuronal cell types.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 16, p. 1679, doi. 10.1093/hmg/10.16.1679

By:

Yvert, Gaël;
Lindenberg, Katrin S.;
Devys, Didier;
Helmlinger, Dominique;
Landwehrmeyer, G. Bernhard;
Mandel, Jean-Louis

Publication type:

Article

Pathogenic APP mutations near the γ-secretase cleavage site differentially affect Aβ secretion and APP C-terminal fragment stability.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 16, p. 1665, doi. 10.1093/hmg/10.16.1665

By:

De Jonghe,, Chris;
Esselens, Cary;
Kumar-Singh, Samir;
Craessaerts, Katleen;
Serneels, Sally;
Checler, Frédéric;
Annaert, Wim;
Van Broeckhoven,, Christine;
De Strooper, Bart

Publication type:

Article

Mutation of the gene encoding the enamel-specific protein, enamelin, causes autosomal-dominant amelogenesis imperfecta.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 16, p. 1673, doi. 10.1093/hmg/10.16.1673

By:

Rajpar, M. Helen;
Harley, Kathryn;
Laing, Chris;
Davies, Robin M.;
Dixon, Michael J.

Publication type:

Article

Mismatch repair detection (MRD): high-throughput scanning for DNA variations.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 16, p. 1657, doi. 10.1093/hmg/10.16.1657

By:

Faham, Malek;
Baharloo, Siamak;
Tomitaka, Shinichiro;
DeYoung, Joe;
Freimer, Nelson B.

Publication type:

Article

Excess cone cell proliferation due to lack of a functional NR2E3 causes retinal dysplasia and degeneration in rd7/rd7 mice.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 16, p. 1619, doi. 10.1093/hmg/10.16.1619

By:

Haider, Neena B.;
Naggert, Jürgen K.;
Nishina, Patsy M.

Publication type:

Article

Enzyme therapy for lysosomal acid lipase deficiency in the mouse.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 16, p. 1639

By:

Hong Du;
Schiavi, Susan;
Levine, Mark;
Mishra, Jaya;
Heur, Martin;
Grabowski, Gregory A.

Publication type:

Article

Peptide-N-glycanases and DNA repair proteins, Xp-C/Rad4, are, respectively, active and inactivated enzymes sharing a common transglutaminase fold.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 16, p. 1627, doi. 10.1093/hmg/10.16.1627

By:

Anantharaman, Vivek;
Koonin, Eugene V.;
Aravind, L.

Publication type:

Article

The importance of gene dosage studies: mutational analysis of the parkin gene in early-onset parkinsonism.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 16, p. 1649, doi. 10.1093/hmg/10.16.1649

By:

Hedrich, Katja;
Kann, Martin;
Lanthaler, Andrea J.;
Dalski, Andreas;
Eskelson, Cordula;
Landt, Olfert;
Schwinger, Eberhard;
Vieregge, Peter;
Lang, Anthony E.;
Breakefield, Xandra O.;
Ozelius, Laurie J.;
Pramstaller, Peter P.;
Klein, Christine

Publication type:

Article

Molecular scanning of the human sorbin and SH3-domain-containing-1 ( SORBS1) gene: positive association of the T228A polymorphism with obesity and type 2 diabetes.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 16

By:

Lin, Wen-Hsing;
Chiu, Ken C.;
Chang, Hui-Min;
Lee, Kuan-Chin;
Tai, Tong-Yuan;
Chuang, Lee-Ming

Publication type:

Article

Domain homologues of dopamine β -hydroxylase and ferric reductase: roles for iron metabolism in neurodegenerative disorders?

Published in:

Human Molecular Genetics, 2001, v. 10, n. 16

By:

Ponting, Chris P.

Publication type:

Article

Identification of an endogenous RNA transcribed from the antisense strand of the HFE gene.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 16

By:

Thénié, Agnès C.;
Gicquel, Isabelle M.;
Hardy, Serge;
Ferran, Hélène;
Fergelot, Patricia;
Le Gall, Jean-Yves;
Mosser, Jean

Publication type:

Article

Quantitative effects on gene silencing by allelic variation at a tetranucleotide microsatellite.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 16

By:

Albanèse, Véronique;
Biguet, Nicole Faucon;
Kiefer, Hélène;
Bayard, Elisa;
Mallet, Jacques;
Meloni, Rolando

Publication type:

Article

The mutational spectrum of human malignant autosomal recessive osteopetrosis.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 16, p. 1767, doi. 10.1093/hmg/10.17.1767

By:

Sobacchi, Cristina;
Frattini, Annalisa;
Orchard, Paul;
Porras, Oscar;
Tezcan, Ilhan;
Andolina, Marino;
Babul-Hirji, Riyana;
Baric, Ivo;
Canham, Natalie;
Chitayat, David;
Dupuis-Girod, Sophie;
Ellis, Ian;
Etzioni, Amos;
Fasth, Anders;
Fisher, Alain;
Gerritsen, Bert;
Gulino, Virginia;
Horwitz, Edwin;
Klamroth, Verena;
Lanino, Edoardo

Publication type:

Article

Divergent evolution in M6P/IGF2R imprinting from the Jurassic to the Quaternary.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 16

By:

Killian, J. Keith;
Nolan, Catherine M.;
Wylie, Andrew A.;
Li, Tao;
Vu, Thanh H.;
Hoffman, Andrew R.;
Jirtle, Randy L.

Publication type:

Article

Quantitative localization of heterogeneous methyl-CpG-binding protein 2 (MeCP2) expression phenotypes in normal and Rett syndrome brain by laser scanning cytometry.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 16

By:

LaSalle, Janine M.;
Goldstine, Jared;
Balmer, Damina;
Greco, Claudia M.

Publication type:

Article

Pathological and genetic analysis of the degenerating muscle (dmu) mouse: a new allele of Scn8a.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 16

By:

De Repentigny, Yves;
Côté, Patrice D.;
Pool, Madeline;
Bernier, Gilbert;
Girard, Sonia;
Vidal, Silvia M.;
Kothary, Rashmi

Publication type:

Article

Mutations in the X-linked filamin 1 gene cause periventricular nodular heterotopia in males as well as in females.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 16, p. 1775, doi. 10.1093/hmg/10.17.1775

By:

Sheen, Volney L.;
Dixon, Peter H.;
Fox, Jeremy W.;
Hong, Susan E.;
Kinton, Lucy;
Sisodiya, Sanjay M.;
Duncan, John S.;
Dubeau, Francois;
Scheffer, Ingrid E.;
Schachter, Steven C.;
Wilner, Andrew;
Henchy, Ruth;
Crino, Peter;
Kamuro, Kazuhiro;
DiMario, Frances;
Berg, Michel;
Kuzniecky, Ruben;
Cole, Andrew J.;
Bromfield, Edward;
Biber, Michael

Publication type:

Article

Fumarylacetoacetate, the metabolite accumulating in hereditary tyrosinemia, activates the ERK pathway and induces mitotic abnormalities and genomic instability.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 16

By:

Jorquera, Rossana;
Tanguay, Robert M.

Publication type:

Article

α -synuclein gene haplotypes are associated with Parkinson’s disease.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 16

By:

Farrer, Matt;
Maraganore, Demetrius M.;
Lockhart, Paul;
Singleton, Andrew;
Lesnick, T.G.;
de Andrade, Mariza;
West, Andrew;
de Silva, Rohan;
Hardy, John;
Hernandez, Dena

Publication type:

Article

The sarcolemmal proteins dysferlin and caveolin-3 interact in skeletal muscle.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 16, p. 1

By:

Matsuda, Chie;
Hayashi, Yukiko K.;
Ogawa, Megumu;
Aoki, Masashi;
Murayama, Kumiko;
Nishino, Ichizo;
Nonaka, Ikuya;
Arahata, Kiichi;
Brown, Jr., Robert H.

Publication type:

Article

Insights into psoriasis and other inflammatory diseases from large-scale gene expression studies.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 16

By:

Bowcock, M.;
Shannon, William;
Du, Fenghe;
Duncan, Jill;
Cao, Kai;
Aftergut, Kent;
Catier, Jennifer;
Fernandez-Vina, A.;
Menter, Alan

Publication type:

Article

Polyglutamine expansions cause decreased CRE-mediated transcription and early gene expression changes prior to cell death in an inducible cell model of Huntington’s disease.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 16

By:

Wyttenbach, Andreas;
Swartz, Jina;
Kita, Hiroko;
Thykjaer, Thomas;
Carmichael, Jenny;
Bradley, Jane;
Brown, Rosemary;
Maxwell, Michelle;
Schapira, Anthony;
Orntoft, Torben F.;
Kato, Kikuya;
Rubinsztein, David C.

Publication type:

Article

The huntingtin interacting protein HIP1 is a clathrin and α-adaptin-binding protein involved in receptor-mediated endocytosis.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 16

By:

Waelter, Stephanie;
Scherzinger, Eberhard;
Hasenbank, Renate;
Nordhoff, Eckhard;
Lurz, Rudi;
Goehler, Heike;
Gauss, Christine;
Sathasivam, Kirupa;
Bates, Gillian P.;
Lehrach, Hans;
Wanker, Erich E.

Publication type:

Article