Works matching IS 09646906 AND DT 2010 AND VI 19 AND IP 22
Results: 24
Contents Page.
- Published in:
- Human Molecular Genetics, 2010, v. 19, n. 22, p. NP, doi. 10.1093/hmg/ddq438
- Publication type:
- Article
Identification of epistatic effects using a protein–protein interaction database.
- Published in:
- Human Molecular Genetics, 2010, v. 19, n. 22, p. 4345, doi. 10.1093/hmg/ddq356
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- Publication type:
- Article
Cover Page.
- Published in:
- Human Molecular Genetics, 2010, v. 19, n. 22, p. NP, doi. 10.1093/hmg/ddq441
- Publication type:
- Article
Mutations in C16orf57 and normal-length telomeres unify a subset of patients with dyskeratosis congenita, poikiloderma with neutropenia and Rothmund–Thomson syndrome.
- Published in:
- Human Molecular Genetics, 2010, v. 19, n. 22, p. 4453, doi. 10.1093/hmg/ddq371
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- Publication type:
- Article
Editorial Board.
- Published in:
- Human Molecular Genetics, 2010, v. 19, n. 22, p. NP, doi. 10.1093/hmg/ddq444
- Publication type:
- Article
Identification of AF4/FMR2 family, member 3 (AFF3) as a novel rheumatoid arthritis susceptibility locus and confirmation of two further pan-autoimmune susceptibility genes.
- Published in:
- Human Molecular Genetics, 2010, v. 19, n. 22, p. 4543
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- Publication type:
- Article
A Drosophila model of GSS syndrome suggests defects in active zones are responsible for pathogenesis of GSS syndrome.
- Published in:
- Human Molecular Genetics, 2010, v. 19, n. 22, p. 4474, doi. 10.1093/hmg/ddq379
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- Publication type:
- Article
Combined effects of three independent SNPs greatly increase the risk estimate for RA at 6q23.
- Published in:
- Human Molecular Genetics, 2010, v. 19, n. 22, p. 4544
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- Publication type:
- Article
Expression and lysosomal targeting of CLN7, a major facilitator superfamily transporter associated with variant late-infantile neuronal ceroid lipofuscinosis.
- Published in:
- Human Molecular Genetics, 2010, v. 19, n. 22, p. 4497, doi. 10.1093/hmg/ddq381
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- Publication type:
- Article
Mutations in the neuronal β-tubulin subunit TUBB3 result in malformation of cortical development and neuronal migration defects.
- Published in:
- Human Molecular Genetics, 2010, v. 19, n. 22, p. 4462, doi. 10.1093/hmg/ddq377
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- Publication type:
- Article
Glutaredoxin 2 prevents aggregation of mutant SOD1 in mitochondria and abolishes its toxicity.
- Published in:
- Human Molecular Genetics, 2010, v. 19, n. 22, p. 4529, doi. 10.1093/hmg/ddq383
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- Publication type:
- Article
Reduced striatal dopamine underlies the attention system dysfunction in neurofibromatosis-1 mutant mice.
- Published in:
- Human Molecular Genetics, 2010, v. 19, n. 22, p. 4515, doi. 10.1093/hmg/ddq382
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- Publication type:
- Article
Kinesin-1 transport reductions enhance human tau hyperphosphorylation, aggregation and neurodegeneration in animal models of tauopathies.
- Published in:
- Human Molecular Genetics, 2010, v. 19, n. 22, p. 4399, doi. 10.1093/hmg/ddq363
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- Publication type:
- Article
The retinitis pigmentosa protein RP2 interacts with polycystin 2 and regulates cilia-mediated vertebrate development.
- Published in:
- Human Molecular Genetics, 2010, v. 19, n. 22, p. 4330, doi. 10.1093/hmg/ddq355
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- Publication type:
- Article
Prevention of autosomal dominant retinitis pigmentosa by systemic drug therapy targeting heat shock protein 90 (Hsp90).
- Published in:
- Human Molecular Genetics, 2010, v. 19, n. 22, p. 4421, doi. 10.1093/hmg/ddq369
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- Publication type:
- Article
Resveratrol regulates the PTEN/AKT pathway through androgen receptor-dependent and -independent mechanisms in prostate cancer cell lines.
- Published in:
- Human Molecular Genetics, 2010, v. 19, n. 22, p. 4319, doi. 10.1093/hmg/ddq354
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- Publication type:
- Article
Genetic background impacts developmental potential of enteric neural crest-derived progenitors in the Sox10Dom model of Hirschsprung disease.
- Published in:
- Human Molecular Genetics, 2010, v. 19, n. 22, p. 4353, doi. 10.1093/hmg/ddq357
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- Publication type:
- Article
Dissecting the role of the mitochondrial chaperone mortalin in Parkinson's disease: functional impact of disease-related variants on mitochondrial homeostasis.
- Published in:
- Human Molecular Genetics, 2010, v. 19, n. 22, p. 4437, doi. 10.1093/hmg/ddq370
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- Publication type:
- Article
The Huntington's disease mutation impairs Huntingtin's role in the transport of NF-κB from the synapse to the nucleus.
- Published in:
- Human Molecular Genetics, 2010, v. 19, n. 22, p. 4373, doi. 10.1093/hmg/ddq358
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- Publication type:
- Article
Effects of cis-regulatory variation differ across regions of the adult human brain.
- Published in:
- Human Molecular Genetics, 2010, v. 19, n. 22, p. 4490, doi. 10.1093/hmg/ddq380
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- Publication type:
- Article
A point mutation in the dynein heavy chain gene leads to striatal atrophy and compromises neurite outgrowth of striatal neurons.
- Published in:
- Human Molecular Genetics, 2010, v. 19, n. 22, p. 4385, doi. 10.1093/hmg/ddq361
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- Publication type:
- Article
Knockdown of zebrafish Lgi1a results in abnormal development, brain defects and a seizure-like behavioral phenotype.
- Published in:
- Human Molecular Genetics, 2010, v. 19, n. 22, p. 4409, doi. 10.1093/hmg/ddq364
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- Publication type:
- Article
Subscription Page.
- Published in:
- Human Molecular Genetics, 2010, v. 19, n. 22, p. NP, doi. 10.1093/hmg/ddq447
- Publication type:
- Article
Identification by whole-genome resequencing of gene defect responsible for severe hypercholesterolemia.
- Published in:
- Human Molecular Genetics, 2010, v. 19, n. 22, p. 4313, doi. 10.1093/hmg/ddq352
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- Publication type:
- Article