Works matching IS 09646906 AND DT 2002 AND VI 11 AND IP 8

Results: 12

Functional analysis of cone–rod homeobox (CRX) mutations associated with retinal dystrophy.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 8, p. 873, doi. 10.1093/hmg/11.8.873

By:

Chen, Shiming;
Wang, Qing-Liang;
Xu, Siqun;
Liu, Ivy;
Li, Lili Y.;
Wang, Yufang;
Zack, Donald J.

Publication type:

Article

Huntingtin inclusions do not deplete polyglutamine-containing transcription factors in HD mice.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 8, p. 905

By:

Yu, Zhao-Xue;
Li, Shi-Hua;
Nguyen, Huu-Phuc;
Li, Xiao-Jiang

Publication type:

Article

PLUNC: A novel family of candidate host defence proteins expressed in the upper airways and nasopharynx.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 8, p. 937, doi. 10.1093/hmg/11.8.937

By:

Bingle, Colin D.;
Craven, C. Jeremy

Publication type:

Article

Mutations in CD2BP1 disrupt binding to PTP PEST and are responsible for PAPA syndrome, an autoinflammatory disorder.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 8, p. 961, doi. 10.1093/hmg/11.8.961

By:

Wise, Carol A.;
Gillum, Joseph D.;
Seidman, Christine E.;
Lindor, Noralane M.;
Veile, Rose;
Bashiardes, Stavros;
Lovett, Michael

Publication type:

Article

Activation of the β-like globin genes in transgenic mice is dependent on the presence of the β-locus control region.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 8, p. 893, doi. 10.1093/hmg/11.8.893

By:

Navas, Patrick A.;
Li, Qiliang;
Peterson, Kenneth R.;
Swank, Richard A.;
Rohde, Alex;
Roy, Julianne;
Stamatoyannopoulos, George

Publication type:

Article

Lysosomal localization of the neuronal ceroid lipofuscinosis CLN5 protein.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 8, p. 885, doi. 10.1093/hmg/11.8.885

By:

Isosomppi, Juha;
Vesa, Jouni;
Jalanko, Anu;
Peltonen, Leena

Publication type:

Article

Tbx1 mutation causes multiple cardiovascular defects and disrupts neural crest and cranial nerve migratory pathways.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 8, p. 915, doi. 10.1093/hmg/11.8.915

By:

Vitelli, Francesca;
Morishima, Masae;
Taddei, Ilaria;
Lindsay, Elizabeth A.;
Baldini, Antonio

Publication type:

Article

Targeted disruption of Huntingtin-associated protein-1 (Hap1) results in postnatal death due to depressed feeding behavior.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 8, p. 945, doi. 10.1093/hmg/11.8.945

By:

Chan, Edmond Y. W.;
Nasir, Jamal;
Gutekunst, Claire-Anne;
Coleman, Sarah;
Maclean, Alan;
Maas, Alex;
Metzler, Martina;
Gertsenstein, Marina;
Ross, Christopher A.;
Nagy, Andràs;
Hayden, Michael R.

Publication type:

Article

Mutations in TITF-1 are associated with benign hereditary chorea.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 8, p. 971, doi. 10.1093/hmg/11.8.971

By:

Breedveld, Guido J.;
van Dongen, Jeroen W.F.;
Danesino, Cesare;
Guala, Andrea;
Percy, Alan K.;
Dure, Leon S.;
Harper, Peter;
Lazarou, Lazarus P.;
van der Linde, Herma;
Joosse, Marijke;
Grüters, Annette;
MacDonald, Marcy E.;
de Vries, Bert B.A.;
Arts, Willem Frans M.;
Oostra, Ben A.;
Krude, Heiko;
Heutink, Peter

Publication type:

Article

Functional polycystin-1 expression is developmentally regulated during epithelial morphogenesis in vitro: downregulation and loss of membrane localization during cystogenesis.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 8, p. 923, doi. 10.1093/hmg/11.8.923

By:

O. Bukanov, Nikolay;
Husson, Hervé;
Dackowski, William R.;
Lawrence, Brandon D.;
Clow, Patricia A.;
Roberts, Bruce L.;
Klinger, Katherine W.;
Ibraghimov-Beskrovnaya, Oxana

Publication type:

Article

ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 8, p. 981, doi. 10.1093/hmg/11.8.981

By:

Bienvenu, Thierry;
Poirier, Karine;
Friocourt, Gaelle;
Bahi, Nadia;
Beaumont, Delphine;
Fauchereau, Fabien;
Ben Jeema, Lamia;
Zemni, Ramzi;
Vinet, Marie-Claude;
Francis, Fiona;
Couvert, Philippe;
Gomot, Marie;
Moraine, Claude;
van Bokhoven, Hans;
Kalscheuer, Vera;
Frints, Suzanne;
Gecz, Josef;
Ohzaki, Kanae;
Chaabouni, Habiba;
Fryns, Jean-Pierre

Publication type:

Article

Gene expression profiles of poor-prognosis primary breast cancer correlate with survival.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 8, p. 863, doi. 10.1093/hmg/11.8.863

By:

Bertucci, François;
Nasser, Valéry;
Granjeaud, Samuel;
Eisinger, François;
Adelaïde, José;
Tagett, Rebecca;
Loriod, Béatrice;
Giaconia, Aurélia;
Benziane, Athmane;
Devilard, Elisabeth;
Jacquemier, Jocelyne;
Viens, Patrice;
Nguyen, Catherine;
Birnbaum, Daniel;
Houlgatte, Rémi

Publication type:

Article