Works matching IS 09646906 AND DT 2003 AND VI 12 AND IP 5

Results: 13

Retinitis pigmentosa and allied diseases: numerous diseases, genes, and inheritance patterns.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 5, p. 583, doi. 10.1093/hmg/12.5.583

By:

Rivolta, Carlo;
Sharon, Dror;
DeAngelis, Margaret M.;
Dryja, Thaddeus P.

Publication type:

Article

Mutations in the human melanocortin-4 receptor gene associated with severe familial obesity disrupts receptor function through multiple molecular mechanisms.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 5, p. 561, doi. 10.1093/hmg/ddg057

By:

Yeo, Giles S.H.;
Lank, Emma J.;
Farooqi, I. Sadaf;
Keogh, Julia;
Challis, Benjamin G.;
O'Rahilly, Stephen

Publication type:

Article

Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 5, p. 463, doi. 10.1093/hmg/ddg051

By:

Weil, Dominique;
El-Amraoui, Aziz;
Masmoudi, Saber;
Mustapha, Mirna;
Kikkawa, Yoshiaki;
Lainé, Sophie;
Delmaghani, Sedigheh;
Adato, Avital;
Nadifi, Sellama;
Zina, Zeineb Ben;
Hamel, Christian;
Gal, Andreas;
Ayadi, Hammadi;
Yonekawa, Hiromichi;
Petit, Christine

Publication type:

Article

A mouse model for hereditary hemorrhagic telangiectasia (HHT) type 2.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 5, p. 473, doi. 10.1093/hmg/ddg050

By:

Srinivasan, Sudha;
Hanes, Martha A.;
Dickens, Tayeashai;
Porteous, Mary E. M.;
Oh, S. Paul;
Hale, Laura P.;
Marchuk, Douglas A.

Publication type:

Article

The voltage-gated potassium channel Kv1.3 regulates energy homeostasis and body weight.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 5, p. 551

By:

Xu, Jianchao;
Koni, Pandelakis A.;
Wang, Peili;
Li, Guoyong;
Kaczmarek, Leonard;
Wu, Yanling;
Li, Yanyan;
Flavell, Richard A.;
Desir, Gary V.

Publication type:

Article

Identification of CDH1 germline missense mutations associated with functional inactivation of the E-cadherin protein in young gastric cancer probands.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 5, p. 575, doi. 10.1093/hmg/ddg048

By:

Suriano, Gianpaolo;
Oliveira, Carla;
Ferreira, Paulo;
Machado, José C.;
Bordin, Maria C.;
De Wever, Olivier;
Bruyneel, Erik A.;
Moguilevsky, Nicole;
Grehan, Nicola;
Porter, Timothy R.;
Richards, Frances M.;
Hruban, Ralph H.;
Roviello, Franco;
Huntsman, David;
Mareel, Marc;
Carneiro, Fátima;
Caldas, Carlos;
Seruca, Raquel

Publication type:

Article

Defective integrin switch and matrix composition at alpha 7-deficient myotendinous junctions precede the onset of muscular dystrophy in mice.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 5, p. 483, doi. 10.1093/hmg/ddg047

By:

Nawrotzki, Ralph;
Willem, Michael;
Miosge, Nicolai;
Brinkmeier, Heinrich;
Mayer, Ulrike

Publication type:

Article

Specific progressive cAMP reduction implicates energy deficit in presymptomatic Huntington's disease knock-in mice.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 5, p. 497, doi. 10.1093/hmg/ddg046

By:

Gines, Silvia;
Seong, Ihn Sik;
Fossale, Elisa;
Ivanova, Elena;
Trettel, Flavia;
Gusella, James F.;
Wheeler, Vanessa C.;
Persichetti, Francesca;
MacDonald, Marcy E.

Publication type:

Article

A major locus on mouse chromosome 18 controls XX sex reversal in Odd Sex (Ods) mice.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 5, p. 509, doi. 10.1093/hmg/ddg045

By:

Qin, Yangjun;
Poirier, Christophe;
Truong, Cavatina;
Schumacher, Armin;
Agoulnik, Alexander I.;
Bishop, Colin E.

Publication type:

Article

Parkin prevents mitochondrial swelling and cytochrome c release in mitochondria-dependent cell death.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 5, p. 517, doi. 10.1093/hmg/ddg044

By:

Darios, Frédéric;
Corti, Olga;
Lücking, Christoph B.;
Hampe, Cornelia;
Muriel, Marie-Paule;
Abbas, Nacer;
Gu, Wen-Jie;
Hirsch, Etienne C.;
Rooney, Thomas;
Ruberg, Merle;
Brice, Alexis

Publication type:

Article

Worldwide distribution and broader clinical spectrum of muscle–eye–brain disease.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 5, p. 527, doi. 10.1093/hmg/ddg043

By:

Taniguchi, Kiyomi;
Kobayashi, Kazuhiro;
Saito, Kayoko;
Yamanouchi, Hideo;
Ohnuma, Akira;
Hayashi, Yukiko K.;
Manya, Hiroshi;
Jin, Dong Kyu;
Lee, Munhyang;
Parano, Enrico;
Falsaperla, Raffaele;
Pavone, Piero;
Van Coster, Rudy;
Talim, Beril;
Steinbrecher, Alice;
Straub, Volker;
Nishino, Ichizo;
Topaloglu, Haluk;
Voit, Thomas;
Endo, Tamao

Publication type:

Article

Mutations in a new scaffold protein Sans cause deafness in Jackson shaker mice.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 5, p. 453, doi. 10.1093/hmg/ddg042

By:

Kikkawa, Yoshiaki;
Shitara, Hiroshi;
Wakana, Shigeharu;
Kohara, Yuki;
Takada, Toyoyuki;
Okamoto, Mieko;
Taya, Choji;
Kamiya, Kazusaku;
Yoshikawa, Yasuhiro;
Tokano, Hisashi;
Kitamura, Ken;
Shimizu, Kunihiko;
Wakabayashi, Yuichi;
Shiroishi, Toshihiko;
Kominami, Ryo;
Yonekawa, Hiromichi

Publication type:

Article

Loss of imprinting of IGF2 and H19 in osteosarcoma is accompanied by reciprocal methylation changes of a CTCF-binding site.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 5, p. 535, doi. 10.1093/hmg/ddg034

By:

Ulaner, Gary A.;
Vu, Thanh H.;
Li, Tao;
Hu, Ji-Fan;
Yao, Xiao-Ming;
Yang, Youwen;
Gorlick, Richard;
Meyers, Paul;
Healey, John;
Ladanyi, Marc;
Hoffman, Andrew R.

Publication type:

Article