Works matching IS 09646906 AND DT 2001 AND VI 10 AND IP 11

Results: 22

Mutations in the γ2 subunit of AMP-activated protein kinase cause familial hypertrophic cardiomyopathy: evidence for the central role of energy compromise in disease pathogenesis.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 11, p. 1215, doi. 10.1093/hmg/10.11.1215

By:

Blair, Edward;
Redwood, Charles;
Ashrafian, Houman;
Oliveira, Marisa;
Broxholme, John;
Kerr, Bronwyn;
Salmon, Anthony;
Östman-Smith, Ingegerd;
Watkins, Hugh

Publication type:

Article

A mutation in the saposin A domain of the sphingolipid activator protein (prosaposin) gene results in a late-onset, chronic form of globoid cell leukodystrophy in the mouse.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 11, p. 1191, doi. 10.1093/hmg/10.11.1191

By:

Matsuda, Junko;
Vanier, Marie T.;
Saito, Yuko;
Tohyama, Jun;
Suzuki, Kinuko;
Suzuki, Kunihiko

Publication type:

Article

Mutations in the X-linked RP2 gene cause intracellular misrouting and loss of the protein.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 11, p. 1177, doi. 10.1093/hmg/10.11.1177

By:

Schwahn, Uwe;
Paland, Nicole;
Techritz, Sandra;
Lenzner, Steffen;
Berger, Wolfgang

Publication type:

Article

hMRE11: genomic structure and a null mutation identified in a transcript protected from nonsense-mediated mRNA decay.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 11, p. 1155, doi. 10.1093/hmg/10.11.1155

By:

Pitts, Sharon A.;
Kullar, Harjit S.;
Stankovic, Tatjana;
Stewart, Grant S.;
Last, James I. K.;
Bedenham, Tina;
Armstrong, Susan J.;
Piane, Maria;
Chessa, Luciana;
Taylor, A. Malcolm R.;
Byrd, Philip J.

Publication type:

Article

The product of an oculopharyngeal muscular dystrophy gene, poly(A)-binding protein 2, interacts with SKIP and stimulates muscle-specific gene expression.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 11, p. 1129, doi. 10.1093/hmg/10.11.1129

By:

Kim, Yeon-Jeong;
Noguchi, Satoru;
Hayashi, Yukiko K.;
Tsukahara, Toshifumi;
Shimizu, Takao;
Arahata, Kiichi

Publication type:

Article

Persistent Prop1 expression delays gonadotrope differentiation and enhances pituitary tumor susceptibility.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 11, p. 1141, doi. 10.1093/hmg/10.11.1141

By:

Cushman, Lisa J.;
Watkins-Chow, Dawn E.;
Brinkmeier, Michelle L.;
Raetzman, Lori T.;
Radak, Amy L.;
Lloyd, Ricardo V.;
Camper, Sally A.

Publication type:

Article

Mice containing a human chromosome 21 model behavioral impairment and cardiac anomalies of Down’s syndrome.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 11, p. 1163, doi. 10.1093/hmg/10.11.1163

By:

Shinohara, Tokuyuki;
Tomizuka, Kazuma;
Miyabara, Shinichi;
Takehara, Shoko;
Kazuki, Yasuhiro;
Inoue, Jun;
Katoh, Motonobu;
Nakane, Hironobu;
Iino, Akihiro;
Ohguma, Atsuko;
Ikegami, Shiro;
Inokuchi, Kaoru;
Ishida, Isao;
Reeves, Roger H.;
Oshimura, Mitsuo

Publication type:

Article

Ataxin-7 interacts with a Cbl-associated protein that it recruits into neuronal intranuclear inclusions.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 11, p. 1201, doi. 10.1093/hmg/10.11.1201

By:

Lebre, Anne-Sophie;
Jamot, Laure;
Takahashi, Junko;
Spassky, Nathalie;
Leprince, Corinne;
Ravisé, Nicole;
Zander, Cécilia;
Fujigasaki, Hiroto;
Kussel-Andermann, Polonka;
Duyckaerts, Charles;
Camonis, Jacques H.;
Brice, Alexis

Publication type:

Article

Superoxide-induced massive apoptosis in cultured skin fibroblasts harboring the neurogenic ataxia retinitis pigmentosa (NARP) mutation in the ATPase-6 gene of the mitochondrial DNA.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 11, p. 1221, doi. 10.1093/hmg/10.11.1221

By:

Geromel, Vanna;
Kadhom, Noman;
Cebalos-Picot, Irène;
Ouari, Olivier;
Polidori, Ange;
Munnich, Arnold;
Rötig, Agnès;
Rustin, Pierre

Publication type:

Article

Disruption of an inner arm dynein heavy chain gene results in asthenozoospermia and reduced ciliary beat frequency.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 11, p. 1117, doi. 10.1093/hmg/10.11.1117

By:

Neesen, Juergen;
Kirschner, Renate;
Ochs, Matthias;
Schmiedl, Andreas;
Habermann, Barbara;
Mueller, Christian;
Holstein, Adolf Friedrich;
Nuesslein, Thomas;
Adham, Ibrahim;
Engel, Wolfgang

Publication type:

Article

Truncating mutations in FOXC2 cause multiple lymphedema syndromes.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 11, p. 1185, doi. 10.1093/hmg/10.11.1185

By:

Finegold, David N.;
Kimak, Mark A.;
Lawrence, Elizabeth C.;
Levinson, Kara L.;
Cherniske, Elizabeth M.;
Pober, Barbara R.;
Dunlap, Jean W.;
Ferrell, Robert E.

Publication type:

Article

Truncating mutations in FOXC2 cause multiple lymphedema syndromes.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 11, p. 1185, doi. 10.1093/hmg/10.11.1185

By:

Finegold, David N.

Publication type:

Article

Disruption of an inner arm dynein heavy chain gene results in asthenozoospermia and reduced ciliary beat frequency.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 11, p. 1117, doi. 10.1093/hmg/10.11.1117

By:

Neesen, Juergen

Publication type:

Article

Superoxide-induced massive apoptosis in cultured skin fibroblasts harboring the neurogenic ataxia retinitis pigmentosa (NARP) mutation in the ATPase-6 gene of the mitochondrial DNA.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 11, p. 1221, doi. 10.1093/hmg/10.11.1221

By:

Geromel, Vanna;
Kadhom, Noman;
Cebalos-Picot, Irène;
Ouari, Olivier;
Polidori, Ange;
Munnich, Arnold;
Rötig, Agnès;
Rustin, Pierre

Publication type:

Article

Ataxin-7 interacts with a Cbl-associated protein that it recruits into neuronal intranuclear inclusions.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 11, p. 1201, doi. 10.1093/hmg/10.11.1201

By:

Lebre, Anne-Sophie;
Jamot, Laure;
Takahashi, Junko;
Spassky, Nathalie;
Leprince, Corinne;
Ravisé, Nicole;
Zander, Cécilia;
Fujigasaki, Hiroto;
Kussel-Andermann, Polonka;
Duyckaerts, Charles;
Camonis, Jacques H.;
Brice, Alexis

Publication type:

Article

Mice containing a human chromosome 21 model behavioral impairment and cardiac anomalies of Down's syndrome.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 11, p. 1163, doi. 10.1093/hmg/10.11.1163

By:

Shinohara, Tokuyuki;
Tomizuka, Kazuma;
Miyabara, Shinichi;
Takehara, Shoko;
Kazuki, Yasuhiro;
Inoue, Jun;
Katoh, Motonobu;
Nakane, Hironobu;
Iino, Akihiro;
Ohguma, Atsuko;
Ikegami, Shiro;
Inokuchi, Kaoru;
Ishida, Isao;
Reeves, Roger H.;
Oshimura, Mitsuo

Publication type:

Article

Persistent Prop1 expression delays gonadotrope differentiation and enhances pituitary tumor susceptibility.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 11, p. 1141, doi. 10.1093/hmg/10.11.1141

By:

Cushman, Lisa J.;
Watkins-Chow, Dawn E.;
Brinkmeier, Michelle L.;
Raetzman, Lori T.;
Radak, Amy L.;
Lloyd, Ricardo V.;
Camper, Sally A.

Publication type:

Article

The product of an oculopharyngeal muscular dystrophy gene, poly(A)-binding protein 2, interacts with SKIP and stimulates muscle-specific gene expression.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 11, p. 1129, doi. 10.1093/hmg/10.11.1129

By:

Kim, Yeon-Jeong;
Noguchi, Satoru;
Hayashi, Yukiko K.

Publication type:

Article

hMRE11: genomic structure and a null mutation identified in a transcript protected from nonsense-mediated mRNA decay.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 11, p. 1155, doi. 10.1093/hmg/10.11.1155

By:

Pitts, Sharon A.;
Kullar, Harjit S.;
Stankovic, Tatjana;
Stewart, Grant S.;
Last, James I. K.;
Bedenham, Tina;
Armstrong, Susan J.;
Taylor, A. Malcolm R.;
Byrd, Philip J.

Publication type:

Article

Mutations in the X-linked RP2 gene cause intracellular misrouting and loss of the protein.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 11, p. 1177, doi. 10.1093/hmg/10.11.1177

By:

Schwahn, Uwe

Publication type:

Article

A mutation in the saposin A domain of the sphingolipid activator protein (prosaposin) gene results in a late-onset, chronic form of globoid cell leukodystrophy in the mouse.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 11, p. 1191, doi. 10.1093/hmg/10.11.1191

By:

Matsuda, Junko;
Vanier, Marie T.;
Saito, Yuko;
Tohyama, Jun

Publication type:

Article

Mutations in the γ [sub 2] subunit of AMP-activated protein kinase cause familial hypertrophic cardiomyopathy: evidence for the central role of energy compromise in disease pathogenesis.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 11, p. 1215, doi. 10.1093/hmg/10.11.1215

By:

Blair, Edward

Publication type:

Article