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-X<sub>L</sub> pathway.
- Published in:
- Human Molecular Genetics, 2006, v. 15, n. 2, p. 201, doi. 10.1093/hmg/ddi430
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- Article
Palmitoyl-protein thioesterase-1 deficiency mediates the activation of the unfolded protein response and neuronal apoptosis in INCL.
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- Human Molecular Genetics, 2006, v. 15, n. 2, p. 337, doi. 10.1093/hmg/ddi451
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- Article
Mitochondrial and nuclear DNA defects in Saccharomyces cerevisiae with mutations in DNA polymerase γ associated with progressive external ophthalmoplegia.
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- Human Molecular Genetics, 2006, v. 15, n. 2, p. 363, doi. 10.1093/hmg/ddi454
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- Article
Xcat, a novel mouse model for Nance–Horan syndrome inhibits expression of the cytoplasmic-targeted Nhs1 isoform.
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- Human Molecular Genetics, 2006, v. 15, n. 2, p. 319, doi. 10.1093/hmg/ddi449
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- Article
Hamartin, the tuberous sclerosis complex 1 gene product, interacts with polo-like kinase 1 in a phosphorylation-dependent manner.
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- Human Molecular Genetics, 2006, v. 15, n. 2, p. 287, doi. 10.1093/hmg/ddi444
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- Article
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.
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- Human Molecular Genetics, 2006, v. 15, n. 2, p. 167, doi. 10.1093/hmg/ddi446
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- Article
A genome-wide linkage scan of familial benign recurrent vertigo: linkage to 22q12 with evidence of heterogeneity.
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- Human Molecular Genetics, 2006, v. 15, n. 2, p. 251, doi. 10.1093/hmg/ddi441
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- Article
Inclusion body myopathy-associated mutations in p97/VCP impair endoplasmic reticulum-associated degradation.
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- Human Molecular Genetics, 2006, v. 15, n. 2, p. 189, doi. 10.1093/hmg/ddi426
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- Article
Mice deficient in the Rab5 guanine nucleotide exchange factor ALS2/alsin exhibit age-dependent neurological deficits and altered endosome trafficking.
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- Human Molecular Genetics, 2006, v. 15, n. 2, p. 233, doi. 10.1093/hmg/ddi440
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- 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.
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- Human Molecular Genetics, 2006, v. 15, n. 2, p. 347, doi. 10.1093/hmg/ddi452
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- Article
The Parkinson disease causing LRRK2 mutation I2020T is associated with increased kinase activity.
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- Human Molecular Genetics, 2006, v. 15, n. 2, p. 223, doi. 10.1093/hmg/ddi439
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- Article
Mutant huntingtin alters MAPK signaling pathways in PC12 and striatal cells: ERK1/2 protects against mutant huntingtin-associated toxicity.
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- Human Molecular Genetics, 2006, v. 15, n. 2, p. 273, doi. 10.1093/hmg/ddi443
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- Article
Identification of a splicing enhancer in MLH1 using COMPARE, a new assay for determination of relative RNA splicing efficiencies.
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- Human Molecular Genetics, 2006, v. 15, n. 2, p. 329, doi. 10.1093/hmg/ddi450
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- Publication type:
- Article
Gain-of-function haplotypes in the vesicular monoamine transporter promoter are protective for Parkinson disease in women.
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- Human Molecular Genetics, 2006, v. 15, n. 2, p. 299, doi. 10.1093/hmg/ddi445
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- Publication type:
- Article
Human mesenchymal stem cells ectopically expressing full-length dystrophin can complement Duchenne muscular dystrophy myotubes by cell fusion.
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- Human Molecular Genetics, 2006, v. 15, n. 2, p. 213, doi. 10.1093/hmg/ddi438
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- Article
Spastin and atlastin, two proteins mutated in autosomal-dominant hereditary spastic paraplegia, are binding partners.
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- Human Molecular Genetics, 2006, v. 15, n. 2, p. 307, doi. 10.1093/hmg/ddi447
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- Publication type:
- Article
Deletion of long-range sequences at Sox10 compromises developmental expression in a mouse model of Waardenburg–Shah (WS4) syndrome.
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- Human Molecular Genetics, 2006, v. 15, n. 2, p. 259, doi. 10.1093/hmg/ddi442
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- Article
Mitochondrial DNA polymerase-γ and human disease.
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- Human Molecular Genetics, 2006, v. 15, n. 2, p. r244, doi. 10.1093/hmg/ddl233
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- Article
The genetic architecture of normal variation in human pigmentation: an evolutionary perspective and model.
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- Human Molecular Genetics, 2006, v. 15, n. 2, p. r176, doi. 10.1093/hmg/ddl217
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- Article
Planar cell polarity, ciliogenesis and neural tube defects.
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- Human Molecular Genetics, 2006, v. 15, n. 2, p. r227, doi. 10.1093/hmg/ddl216
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- Article
Genetics of obesity and the prediction of risk for health.
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- Human Molecular Genetics, 2006, v. 15, n. 2, p. r124, doi. 10.1093/hmg/ddl215
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- Article
Molecular bases of progeroid syndromes.
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- Human Molecular Genetics, 2006, v. 15, n. 2, p. r151, doi. 10.1093/hmg/ddl214
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- Article
Epigenetics of autism spectrum disorders.
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- Human Molecular Genetics, 2006, v. 15, n. 2, p. r138, doi. 10.1093/hmg/ddl213
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- Article
Molecular components of the mammalian circadian clock.
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- Human Molecular Genetics, 2006, v. 15, n. 2, p. r271, doi. 10.1093/hmg/ddl207
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- Article
Usher syndrome: molecular links of pathogenesis, proteins and pathways.
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- Human Molecular Genetics, 2006, v. 15, n. 2, p. r262, doi. 10.1093/hmg/ddl205
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Recent advances in the genetics of amyotrophic lateral sclerosis and frontotemporal dementia: common pathways in neurodegenerative disease.
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- Human Molecular Genetics, 2006, v. 15, n. 2, p. r182, doi. 10.1093/hmg/ddl202
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- Article
How lifetimes shape epigenotype within and across generations.
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- Human Molecular Genetics, 2006, v. 15, n. 2, p. r131, doi. 10.1093/hmg/ddl200
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- Article
Noonan syndrome and related disorders: dysregulated RAS-mitogen activated protein kinase signal transduction.
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- Human Molecular Genetics, 2006, v. 15, n. 2, p. r220, doi. 10.1093/hmg/ddl197
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The many facets of the Wilms' tumour gene, WT1.
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- Human Molecular Genetics, 2006, v. 15, n. 2, p. r196, doi. 10.1093/hmg/ddl196
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- Article
Towards understanding CRUMBS function in retinal dystrophies.
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- Human Molecular Genetics, 2006, v. 15, n. 2, p. r235, doi. 10.1093/hmg/ddl195
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- Article
Type-2 diabetes: a cocktail of genetic discovery.
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- Human Molecular Genetics, 2006, v. 15, n. 2, p. r202, doi. 10.1093/hmg/ddl191
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Untangling the tau gene association with neurodegenerative disorders.
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- Human Molecular Genetics, 2006, v. 15, n. 2, p. r188, doi. 10.1093/hmg/ddl190
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- Article
The genetics of mental retardation.
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- Human Molecular Genetics, 2006, v. 15, n. 2, p. r110, doi. 10.1093/hmg/ddl189
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- Article
Genetic susceptibility to myocardial infarction and coronary artery disease.
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- Human Molecular Genetics, 2006, v. 15, n. 2, p. r117, doi. 10.1093/hmg/ddl183
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- Article
Signatures of adaptive evolution within human non-coding sequence.
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- Human Molecular Genetics, 2006, v. 15, n. 2, p. r170, doi. 10.1093/hmg/ddl182
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RNA-dominant diseases.
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- Human Molecular Genetics, 2006, v. 15, n. 2, p. r162, doi. 10.1093/hmg/ddl181
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- Article
Challenges and opportunities in dystrophin-deficient cardiomyopathy gene therapy.
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- Human Molecular Genetics, 2006, v. 15, n. 2, p. r253, doi. 10.1093/hmg/ddl180
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- Article
New techniques to understand chromosome dosage: mouse models of aneuploidy.
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- Human Molecular Genetics, 2006, v. 15, n. 2, p. r103, doi. 10.1093/hmg/ddl179
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Signaling pathways in self-renewing hematopoietic and leukemic stem cells: do all stem cells need a niche?
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- Human Molecular Genetics, 2006, v. 15, n. 2, p. r210, doi. 10.1093/hmg/ddl175
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- Article