Works matching IS 09646906 AND DT 2006 AND VI 15 AND IP 2

Results: 39

Stem-cell protein Piwil2 is widely expressed in tumors and inhibits apoptosis through activation of Stat3/Bcl-XL pathway.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 2, p. 201, doi. 10.1093/hmg/ddi430

By:

Jae Ho Lee;
Schütte, Dorothea;
Wulf, Gerald;
Füzesi, Laszlo;
Radzun, Heinz-Joachim;
Schweyer, Stephan;
Engel, Wolfgang;
Nayernia, Karim

Publication type:

Article

Palmitoyl-protein thioesterase-1 deficiency mediates the activation of the unfolded protein response and neuronal apoptosis in INCL.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 2, p. 337, doi. 10.1093/hmg/ddi451

By:

Zhongjian Zhang;
Yi-Ching Lee;
Sung-Jo Kim;
Choi, Moonsuk S.;
Pei-ChihTsai;
Yan Xu;
Yi-Jin Xiao;
Peng Zhang;
Heffer, Alison;
Mukherjee, Anil B.

Publication type:

Article

Mitochondrial and nuclear DNA defects in Saccharomyces cerevisiae with mutations in DNA polymerase γ associated with progressive external ophthalmoplegia.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 2, p. 363, doi. 10.1093/hmg/ddi454

By:

Stuart, Gregory R.;
Santos, Janine H.;
Strand, Micheline K.;
Van Houten, Bennett;
Copeland, William C.

Publication type:

Article

Xcat, a novel mouse model for Nance–Horan syndrome inhibits expression of the cytoplasmic-targeted Nhs1 isoform.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 2, p. 319, doi. 10.1093/hmg/ddi449

By:

Huang, Kristen M.;
Junhua Wu;
Duncan, Melinda K.;
Moy, Chris;
Dutra, Amalia;
Favor, Jack;
Tong Da;
Stambolian, Dwight

Publication type:

Article

Hamartin, the tuberous sclerosis complex 1 gene product, interacts with polo-like kinase 1 in a phosphorylation-dependent manner.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 2, p. 287, doi. 10.1093/hmg/ddi444

By:

Astrinidis, Aristotelis;
Senapedis, William;
Henske, Elizabeth P.

Publication type:

Article

Transplanted ALDHhiSSClo neural stem cells generate motor neurons and delay disease progression of nmd mice, an animal model of SMARD1.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 2, p. 167, doi. 10.1093/hmg/ddi446

By:

Corti, Stefania;
Locatelli, Federica;
Papadimitriou, Dimitra;
Donadoni, Chiara;
Bo, Roberto Del;
Crimi, Marco;
Bordoni, Andreina;
Fortunato, Francesco;
Strazzer, Sandra;
Menozzi, Giorgia;
Salani, Sabrina;
Bresolin, Nereo;
Comi, Giacomo P.

Publication type:

Article

A genome-wide linkage scan of familial benign recurrent vertigo: linkage to 22q12 with evidence of heterogeneity.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 2, p. 251, doi. 10.1093/hmg/ddi441

By:

Hane Lee;
Jen, Joanna C.;
Hui Wang;
Zugen Chen;
Mamsa, Hafsa;
Sabatti, Chiara;
Baloh, Robert W.;
Nelson, Stanley F.

Publication type:

Article

Inclusion body myopathy-associated mutations in p97/VCP impair endoplasmic reticulum-associated degradation.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 2, p. 189, doi. 10.1093/hmg/ddi426

By:

Weihl, Conrad C.;
Dalal, Seema;
Pestronk, Alan;
Hanson, Phyllis I.

Publication type:

Article

Mice deficient in the Rab5 guanine nucleotide exchange factor ALS2/alsin exhibit age-dependent neurological deficits and altered endosome trafficking.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 2, p. 233, doi. 10.1093/hmg/ddi440

By:

Shinji Hadano;
Benn, Susanna C.;
Shigeru Kakuta;
Asako Otomo;
Katsuko Sudo;
Ryota Kunita;
Kyoko Suzuki-Utsunomiya;
Hikaru Mizumura;
Shefner, Jeremy M.;
Cox, Gregory A.;
Yoichiro Iwakura;
Brown, Robert H.;
Joh-E Ikeda

Publication type:

Article

Human mesenchymal stem cells ectopically expressing full-length dystrophin can complement Duchenne muscular dystrophy myotubes by cell fusion.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 2, p. 213, doi. 10.1093/hmg/ddi438

By:

Gonçalves, Manuel A. F. V.;
de Vries, Antoine A. F.;
Holkers, Maarten;
van de Watering, Marloes J. M.;
van der Velde, Ietje;
van Nierop, Gijsbert P.;
Valerio, Dinko;
Knaän-Shanzer, Shoshan

Publication type:

Article

The Parkinson disease causing LRRK2 mutation I2020T is associated with increased kinase activity.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 2, p. 223, doi. 10.1093/hmg/ddi439

By:

Gloeckner, Christian Johannes;
Kinkl, Norbert;
Schumacher, Annette;
Braun, Ralf J.;
O’Neill, Eric;
Meitinger, Thomas;
Kolch, Walter;
Prokisch, Holger;
Ueffing, Marius

Publication type:

Article

Mutant huntingtin alters MAPK signaling pathways in PC12 and striatal cells: ERK1/2 protects against mutant huntingtin-associated toxicity.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 2, p. 273, doi. 10.1093/hmg/ddi443

By:

Apostol, Barbara L.;
Illes, Katalin;
Pallos, Judit;
Bodai, Laszlo;
Jun Wu;
Strand, Andrew;
Schweitzer, Erik S.;
Olson, James M.;
Kazantsev, Aleksey;
Marsh, J. Lawrence;
Thompson, Leslie Michels

Publication type:

Article

Identification of a splicing enhancer in MLH1 using COMPARE, a new assay for determination of relative RNA splicing efficiencies.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 2, p. 329, doi. 10.1093/hmg/ddi450

By:

Dong-Qing Xu;
Mattox, William

Publication type:

Article

Spastin and atlastin, two proteins mutated in autosomal-dominant hereditary spastic paraplegia, are binding partners.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 2, p. 307, doi. 10.1093/hmg/ddi447

By:

Sanderson, Christopher M.;
Connell, James W.;
Edwards, Thomas L.;
Bright, Nicholas A.;
Duley, Simon;
Thompson, Amanda;
Luzio, J. Paul;
Reid, Evan

Publication type:

Article

A mutation in the small heat-shock protein HSPB1 leading to distal hereditary motor neuronopathy disrupts neurofilament assembly and the axonal transport of specific cellular cargoes.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 2, p. 347, doi. 10.1093/hmg/ddi452

By:

Ackerley, Steven;
James, Paul A.;
Kalli, Arran;
French, Sarah;
Davies, Kay E.;
Talbot, Kevin

Publication type:

Article

Gain-of-function haplotypes in the vesicular monoamine transporter promoter are protective for Parkinson disease in women.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 2, p. 299, doi. 10.1093/hmg/ddi445

By:

Glatt, Charles E.;
Wahner, Angelika D.;
White, Daniel J.;
Ruiz-Linares, Andres;
Ritz, Beate

Publication type:

Article

Deletion of long-range sequences at Sox10 compromises developmental expression in a mouse model of Waardenburg–Shah (WS4) syndrome.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 2, p. 259, doi. 10.1093/hmg/ddi442

By:

Antonellis, Anthony;
Bennett, William R.;
Menheniott, Trevelyan R.;
Prasad, Arjun B.;
Shih-Queen Lee-Lin;
NISC Comparative Sequencing Program;
Green, Eric D.;
Paisley, Derek;
Kelsh, Robert N.;
Pavan, William J.;
Ward, Andrew

Publication type:

Article

Mitochondrial DNA polymerase-γ and human disease.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 2, p. r244, doi. 10.1093/hmg/ddl233

By:

Hudson, Gavin;
Chinnery, Patrick F.

Publication type:

Article

The genetic architecture of normal variation in human pigmentation: an evolutionary perspective and model.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 2, p. r176, doi. 10.1093/hmg/ddl217

By:

McEvoy, Brian;
Beleza, Sandra;
Shriver, Mark D.

Publication type:

Article

Planar cell polarity, ciliogenesis and neural tube defects.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 2, p. r227, doi. 10.1093/hmg/ddl216

By:

Wallingford, John B.

Publication type:

Article

Genetics of obesity and the prediction of risk for health.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 2, p. r124, doi. 10.1093/hmg/ddl215

By:

Walley, Andrew J.;
Blakemore, Alexandra I.F.;
Froguel, Philippe

Publication type:

Article

Molecular bases of progeroid syndromes.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 2, p. r151, doi. 10.1093/hmg/ddl214

By:

Navarro, Claire L.;
Cau, Pierre;
Lévy, Nicolas

Publication type:

Article

Epigenetics of autism spectrum disorders.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 2, p. r138, doi. 10.1093/hmg/ddl213

By:

Schanen, N. Carolyn

Publication type:

Article

Molecular components of the mammalian circadian clock.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 2, p. r271, doi. 10.1093/hmg/ddl207

By:

Ko, Caroline H.;
Takahashi, Joseph S.

Publication type:

Article

Usher syndrome: molecular links of pathogenesis, proteins and pathways.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 2, p. r262, doi. 10.1093/hmg/ddl205

By:

Kremer, Hannie;
van Wijk, Erwin;
Märker, Tina;
Wolfrum, Uwe;
Roepman, Ronald

Publication type:

Article

Recent advances in the genetics of amyotrophic lateral sclerosis and frontotemporal dementia: common pathways in neurodegenerative disease.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 2, p. r182, doi. 10.1093/hmg/ddl202

By:

Talbot, Kevin;
Ansorge, Olaf

Publication type:

Article

How lifetimes shape epigenotype within and across generations.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 2, p. r131, doi. 10.1093/hmg/ddl200

By:

Whitelaw, Nadia C.;
Whitelaw, Emma

Publication type:

Article

Noonan syndrome and related disorders: dysregulated RAS-mitogen activated protein kinase signal transduction.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 2, p. r220, doi. 10.1093/hmg/ddl197

By:

Gelb, Bruce D.;
Tartaglia, Marco

Publication type:

Article

The many facets of the Wilms' tumour gene, WT1.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 2, p. r196, doi. 10.1093/hmg/ddl196

By:

Hohenstein, Peter;
Hastie, Nicholas D.

Publication type:

Article

Towards understanding CRUMBS function in retinal dystrophies.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 2, p. r235, doi. 10.1093/hmg/ddl195

By:

Richard, Mélisande;
Roepman, Ronald;
Aartsen, Wendy M.;
van Rossum, Agnes G.S.H.;
den Hollander, Anneke I.;
Knust, Elisabeth;
Wijnholds, Jan;
Cremers, Frans P.M.

Publication type:

Article

Type-2 diabetes: a cocktail of genetic discovery.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 2, p. r202, doi. 10.1093/hmg/ddl191

By:

Freeman, H.;
Cox, R.D.

Publication type:

Article

Untangling the tau gene association with neurodegenerative disorders.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 2, p. r188, doi. 10.1093/hmg/ddl190

By:

Pittman, Alan M.;
Fung, Hon-Chung;
de Silva, Rohan

Publication type:

Article

The genetics of mental retardation.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 2, p. r110, doi. 10.1093/hmg/ddl189

By:

Raymond, F. Lucy;
Tarpey, Patrick

Publication type:

Article

Genetic susceptibility to myocardial infarction and coronary artery disease.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 2, p. r117, doi. 10.1093/hmg/ddl183

By:

Topol, Eric J.;
Smith, Jonathan;
Plow, Edward F.;
Wang, Qing K.

Publication type:

Article

Signatures of adaptive evolution within human non-coding sequence.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 2, p. r170, doi. 10.1093/hmg/ddl182

By:

Ponting, Chris P.;
Lunter, Gerton

Publication type:

Article

RNA-dominant diseases.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 2, p. r162, doi. 10.1093/hmg/ddl181

By:

Osborne, Robert J.;
Thornton, Charles A.

Publication type:

Article

Challenges and opportunities in dystrophin-deficient cardiomyopathy gene therapy.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 2, p. r253, doi. 10.1093/hmg/ddl180

By:

Duan, Dongsheng

Publication type:

Article

New techniques to understand chromosome dosage: mouse models of aneuploidy.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 2, p. r103, doi. 10.1093/hmg/ddl179

By:

Tybulewicz, Victor L.J.;
Fisher, Elizabeth M.C.

Publication type:

Article

Signaling pathways in self-renewing hematopoietic and leukemic stem cells: do all stem cells need a niche?

Published in:

Human Molecular Genetics, 2006, v. 15, n. 2, p. r210, doi. 10.1093/hmg/ddl175

By:

Rizo, Aleksandra;
Vellenga, Edo;
de Haan, Gerald;
Schuringa, Jan Jacob

Publication type:

Article

Works matching IS 09646906 AND DT 2006 AND VI 15 AND IP 2

Stem-cell protein Piwil2 is widely expressed in tumors and inhibits apoptosis through activation of Stat3/Bcl-X<sub>L</sub> pathway.

Palmitoyl-protein thioesterase-1 deficiency mediates the activation of the unfolded protein response and neuronal apoptosis in INCL.

Mitochondrial and nuclear DNA defects in Saccharomyces cerevisiae with mutations in DNA polymerase γ associated with progressive external ophthalmoplegia.

Xcat, a novel mouse model for Nance–Horan syndrome inhibits expression of the cytoplasmic-targeted Nhs1 isoform.

Hamartin, the tuberous sclerosis complex 1 gene product, interacts with polo-like kinase 1 in a phosphorylation-dependent manner.

Transplanted ALDH<sup>hi</sup>SSC<sup>lo</sup> neural stem cells generate motor neurons and delay disease progression of nmd mice, an animal model of SMARD1.

A genome-wide linkage scan of familial benign recurrent vertigo: linkage to 22q12 with evidence of heterogeneity.

Inclusion body myopathy-associated mutations in p97/VCP impair endoplasmic reticulum-associated degradation.

Mice deficient in the Rab5 guanine nucleotide exchange factor ALS2/alsin exhibit age-dependent neurological deficits and altered endosome trafficking.

Human mesenchymal stem cells ectopically expressing full-length dystrophin can complement Duchenne muscular dystrophy myotubes by cell fusion.

The Parkinson disease causing LRRK2 mutation I2020T is associated with increased kinase activity.

Mutant huntingtin alters MAPK signaling pathways in PC12 and striatal cells: ERK1/2 protects against mutant huntingtin-associated toxicity.

Identification of a splicing enhancer in MLH1 using COMPARE, a new assay for determination of relative RNA splicing efficiencies.

Spastin and atlastin, two proteins mutated in autosomal-dominant hereditary spastic paraplegia, are binding partners.

A mutation in the small heat-shock protein HSPB1 leading to distal hereditary motor neuronopathy disrupts neurofilament assembly and the axonal transport of specific cellular cargoes.

Gain-of-function haplotypes in the vesicular monoamine transporter promoter are protective for Parkinson disease in women.

Deletion of long-range sequences at Sox10 compromises developmental expression in a mouse model of Waardenburg–Shah (WS4) syndrome.

Mitochondrial DNA polymerase-γ and human disease.

The genetic architecture of normal variation in human pigmentation: an evolutionary perspective and model.

Planar cell polarity, ciliogenesis and neural tube defects.

Genetics of obesity and the prediction of risk for health.

Molecular bases of progeroid syndromes.

Epigenetics of autism spectrum disorders.

Molecular components of the mammalian circadian clock.

Usher syndrome: molecular links of pathogenesis, proteins and pathways.

Recent advances in the genetics of amyotrophic lateral sclerosis and frontotemporal dementia: common pathways in neurodegenerative disease.

How lifetimes shape epigenotype within and across generations.

Noonan syndrome and related disorders: dysregulated RAS-mitogen activated protein kinase signal transduction.

The many facets of the Wilms' tumour gene, WT1.

Towards understanding CRUMBS function in retinal dystrophies.

Type-2 diabetes: a cocktail of genetic discovery.

Untangling the tau gene association with neurodegenerative disorders.

The genetics of mental retardation.

Genetic susceptibility to myocardial infarction and coronary artery disease.

Signatures of adaptive evolution within human non-coding sequence.

RNA-dominant diseases.

Challenges and opportunities in dystrophin-deficient cardiomyopathy gene therapy.

New techniques to understand chromosome dosage: mouse models of aneuploidy.

Signaling pathways in self-renewing hematopoietic and leukemic stem cells: do all stem cells need a niche?