Works matching IS 09646906 AND DT 2005 AND VI 14 AND IP 20
Results: 15
Unrip, a factor implicated in cap-independent translation, associates with the cytosolic SMN complex and influences its intracellular localization.
- Published in:
- Human Molecular Genetics, 2005, v. 14, n. 20, p. 3099, doi. 10.1093/hmg/ddi343
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- Article
Mutations in human CPO gene predict clinical expression of either hepatic hereditary coproporphyria or erythropoietic harderoporphyria.
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- Human Molecular Genetics, 2005, v. 14, n. 20, p. 3089, doi. 10.1093/hmg/ddi342
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- Article
Complete loss-of-function of the heart/muscle-specific adenine nucleotide translocator is associated with mitochondrial myopathy and cardiomyopathy.
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- Human Molecular Genetics, 2005, v. 14, n. 20, p. 3079, doi. 10.1093/hmg/ddi341
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- Article
Contribution of nuclear and extranuclear polyQ to neurological phenotypes in mouse models of Huntington's disease.
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- Human Molecular Genetics, 2005, v. 14, n. 20, p. 3065, doi. 10.1093/hmg/ddi340
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- Article
Mapping cis-regulatory domains in the human genome using multi-species conservation of synteny.
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- Human Molecular Genetics, 2005, v. 14, n. 20, p. 3057, doi. 10.1093/hmg/ddi338
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- Article
Juxtaposition of the HPFH2 enhancer is not sufficient to reactivate the γ-globin gene in adult erythropoiesis.
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- Human Molecular Genetics, 2005, v. 14, n. 20, p. 3047, doi. 10.1093/hmg/ddi337
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- Article
Intracellular entrapment of wild-type TSH receptor by oligomerization with mutants linked to dominant TSH resistance.
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- Human Molecular Genetics, 2005, v. 14, n. 20, p. 2991, doi. 10.1093/hmg/ddi329
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- Article
Fancd2 functions in a double strand break repair pathway that is distinct from non-homologous end joining.
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- Human Molecular Genetics, 2005, v. 14, n. 20, p. 3027, doi. 10.1093/hmg/ddi334
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- Article
Impaired hepatocyte survival and liver regeneration in Atm-deficient mice.
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- Human Molecular Genetics, 2005, v. 14, n. 20, p. 3019, doi. 10.1093/hmg/ddi333
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- Article
Discontinuities and unsynapsed regions in meiotic chromosomes have a cis effect on meiotic recombination patterns in normal human males.
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- Human Molecular Genetics, 2005, v. 14, n. 20, p. 3013, doi. 10.1093/hmg/ddi332
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- Article
Lithium rescues toxicity of aggregate-prone proteins in Drosophila by perturbing Wnt pathway.
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- Human Molecular Genetics, 2005, v. 14, n. 20, p. 3003, doi. 10.1093/hmg/ddi331
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- Article
Mutation of the calcium channel gene Cacna1f disrupts calcium signaling, synaptic transmission and cellular organization in mouse retina.
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- Human Molecular Genetics, 2005, v. 14, n. 20, p. 3035, doi. 10.1093/hmg/ddi336
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- Article
Infantile onset spinocerebellar ataxia is caused by recessive mutations in mitochondrial proteins Twinkle and Twinky.
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- Human Molecular Genetics, 2005, v. 14, n. 20, p. 2981, doi. 10.1093/hmg/ddi328
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- Article
Identification of QTLs for serum lipid levels in a female sib-pair cohort: a novel application to improve the power of two-locus linkage analysis.
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- Human Molecular Genetics, 2005, v. 14, n. 20, p. 2971, doi. 10.1093/hmg/ddi327
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- Article
Incomplete processing of mutant lamin A in Hutchinson–Gilford progeria leads to nuclear abnormalities, which are reversed by farnesyltransferase inhibition.
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- Human Molecular Genetics, 2005, v. 14, n. 20, p. 2959, doi. 10.1093/hmg/ddi326
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- Article