Works matching IS 09646906 AND DT 2005 AND VI 14 AND IP 23
Results: 19
Defective lysosomal arginine transport in juvenile Batten disease.
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- Human Molecular Genetics, 2005, v. 14, n. 23, p. 3759, doi. 10.1093/hmg/ddi406
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- Article
TAB2, TRAF6 and TAK1 are involved in NF-κB activation induced by the TNF-receptor, Edar and its adaptator Edaradd.
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- Human Molecular Genetics, 2005, v. 14, n. 23, p. 3751, doi. 10.1093/hmg/ddi405
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- Article
Gene expression variation and expression quantitative trait mapping of human chromosome 21 genes.
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- Human Molecular Genetics, 2005, v. 14, n. 23, p. 3741, doi. 10.1093/hmg/ddi404
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- Article
Consequences of mutations in the non-coding RMRP RNA in cartilage-hair hypoplasia.
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- Human Molecular Genetics, 2005, v. 14, n. 23, p. 3723, doi. 10.1093/hmg/ddi403
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- Article
A segment of the Mecp2 promoter is sufficient to drive expression in neurons.
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- Human Molecular Genetics, 2005, v. 14, n. 23, p. 3709, doi. 10.1093/hmg/ddi402
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- Article
Molecular consequences of PHOX2B missense, frameshift and alanine expansion mutations leading to autonomic dysfunction.
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- Human Molecular Genetics, 2005, v. 14, n. 23, p. 3697, doi. 10.1093/hmg/ddi401
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- Article
An animal model for Charcot–Marie–Tooth disease type 4B1.
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- Human Molecular Genetics, 2005, v. 14, n. 23, p. 3685, doi. 10.1093/hmg/ddi400
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- Article
Induction of HSP70 expression and recruitment of HSC70 and HSP70 in the nucleus reduce aggregation of a polyalanine expansion mutant of PABPN1 in HeLa cells.
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- Human Molecular Genetics, 2005, v. 14, n. 23, p. 3673, doi. 10.1093/hmg/ddi395
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- Article
Induction of inclusion formation and disruption of lamin A/C structure by premutation CGG-repeat RNA in human cultured neural cells.
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- Human Molecular Genetics, 2005, v. 14, n. 23, p. 3661, doi. 10.1093/hmg/ddi394
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- Article
RNA-binding protein is involved in aggregation of light neurofilament protein and is implicated in the pathogenesis of motor neuron degeneration.
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- Human Molecular Genetics, 2005, v. 14, n. 23, p. 3643, doi. 10.1093/hmg/ddi392
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- Article
The activity of the spinal muscular atrophy protein is regulated during development and cellular differentiation.
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- Human Molecular Genetics, 2005, v. 14, n. 23, p. 3629, doi. 10.1093/hmg/ddi390
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- Article
Evidence of balancing selection at the HLA-G promoter region.
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- Human Molecular Genetics, 2005, v. 14, n. 23, p. 3619, doi. 10.1093/hmg/ddi389
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- Article
Reduction of Pax9 gene dosage in an allelic series of mouse mutants causes hypodontia and oligodontia.
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- Human Molecular Genetics, 2005, v. 14, n. 23, p. 3605, doi. 10.1093/hmg/ddi388
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- Article
Polymorphism discovery in 51 chemotherapy pathway genes.
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- Human Molecular Genetics, 2005, v. 14, n. 23, p. 3595, doi. 10.1093/hmg/ddi387
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- Article
A cardiac myosin binding protein C mutation in the Maine Coon cat with familial hypertrophic cardiomyopathy.
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- Human Molecular Genetics, 2005, v. 14, n. 23, p. 3587, doi. 10.1093/hmg/ddi386
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- Article
Sorsby's fundus dystrophy mutations impair turnover of TIMP-3 by retinal pigment epithelial cells†This article is dedicated to our colleague Kevin Langton, who died suddenly on 19th December 2004. We all miss his intellect, practical skills and sense ...
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- Human Molecular Genetics, 2005, v. 14, n. 23, p. 3579, doi. 10.1093/hmg/ddi385
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- Article
Inactivation of the peroxisomal ABCD2 transporter in the mouse leads to late-onset ataxia involving mitochondria, Golgi and endoplasmic reticulum damage.
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- Human Molecular Genetics, 2005, v. 14, n. 23, p. 3565, doi. 10.1093/hmg/ddi384
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- Article
Deletions in the polyAlanine-containing transcription factor FOXL2 lead to intranuclear aggregation.
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- Human Molecular Genetics, 2005, v. 14, n. 23, p. 3557, doi. 10.1093/hmg/ddi383
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- Article
Comprehensive evaluation of common genetic variation within LRRK2 reveals evidence for association with sporadic Parkinson's disease.
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- Human Molecular Genetics, 2005, v. 14, n. 23, p. 3549, doi. 10.1093/hmg/ddi376
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- Article