Works matching IS 09646906 AND DT 2001 AND VI 10 AND IP 16
Results: 27
SCA7 mouse models show selective stabilization of mutant ataxin-7 and similar cellular responses in different neuronal cell types.
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- Human Molecular Genetics, 2001, v. 10, n. 16, p. 1679, doi. 10.1093/hmg/10.16.1679
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- Article
Pathogenic APP mutations near the γ-secretase cleavage site differentially affect Aβ secretion and APP C-terminal fragment stability.
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- Human Molecular Genetics, 2001, v. 10, n. 16, p. 1665, doi. 10.1093/hmg/10.16.1665
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Mutation of the gene encoding the enamel-specific protein, enamelin, causes autosomal-dominant amelogenesis imperfecta.
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- Human Molecular Genetics, 2001, v. 10, n. 16, p. 1673, doi. 10.1093/hmg/10.16.1673
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Mismatch repair detection (MRD): high-throughput scanning for DNA variations.
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- Human Molecular Genetics, 2001, v. 10, n. 16, p. 1657, doi. 10.1093/hmg/10.16.1657
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Excess cone cell proliferation due to lack of a functional NR2E3 causes retinal dysplasia and degeneration in rd7/rd7 mice.
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- Human Molecular Genetics, 2001, v. 10, n. 16, p. 1619, doi. 10.1093/hmg/10.16.1619
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The melanocortin-1-receptor gene is the major freckle gene.
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- Human Molecular Genetics, 2001, v. 10, n. 16, p. 1701, doi. 10.1093/hmg/10.16.1701
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Functional analyses of two newly identified PITX2 mutants reveal a novel molecular mechanism for Axenfeld-Rieger syndrome.
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- Human Molecular Genetics, 2001, v. 10, n. 16, p. 1631, doi. 10.1093/hmg/10.16.1631
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- Article
Mutations in the novel protocadherin PCDH15 cause Usher syndrome type 1F.
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- Human Molecular Genetics, 2001, v. 10, n. 16, p. 1709, doi. 10.1093/hmg/10.16.1709
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Instability of a (CGG)9<sub>8</sub> repeat in the Fmr1 promoter.
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- Human Molecular Genetics, 2001, v. 10, n. 16, p. 1693, doi. 10.1093/hmg/10.16.1693
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Enzyme therapy for lysosomal acid lipase deficiency in the mouse.
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- Human Molecular Genetics, 2001, v. 10, n. 16, p. 1639
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Peptide-N-glycanases and DNA repair proteins, Xp-C/Rad4, are, respectively, active and inactivated enzymes sharing a common transglutaminase fold.
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- Human Molecular Genetics, 2001, v. 10, n. 16, p. 1627, doi. 10.1093/hmg/10.16.1627
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- Article
The importance of gene dosage studies: mutational analysis of the parkin gene in early-onset parkinsonism.
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- Human Molecular Genetics, 2001, v. 10, n. 16, p. 1649, doi. 10.1093/hmg/10.16.1649
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- Article
Molecular scanning of the human sorbin and SH3-domain-containing-1 ( SORBS1) gene: positive association of the T228A polymorphism with obesity and type 2 diabetes.
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- Human Molecular Genetics, 2001, v. 10, n. 16
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Domain homologues of dopamine β -hydroxylase and ferric reductase: roles for iron metabolism in neurodegenerative disorders?
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- Human Molecular Genetics, 2001, v. 10, n. 16
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Identification of an endogenous RNA transcribed from the antisense strand of the HFE gene.
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- Human Molecular Genetics, 2001, v. 10, n. 16
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Quantitative effects on gene silencing by allelic variation at a tetranucleotide microsatellite.
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- Human Molecular Genetics, 2001, v. 10, n. 16
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Fumarylacetoacetate, the metabolite accumulating in hereditary tyrosinemia, activates the ERK pathway and induces mitotic abnormalities and genomic instability.
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- Human Molecular Genetics, 2001, v. 10, n. 16
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Divergent evolution in M6P/IGF2R imprinting from the Jurassic to the Quaternary.
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- Human Molecular Genetics, 2001, v. 10, n. 16
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Quantitative localization of heterogeneous methyl-CpG-binding protein 2 (MeCP2) expression phenotypes in normal and Rett syndrome brain by laser scanning cytometry.
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- Human Molecular Genetics, 2001, v. 10, n. 16
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Pathological and genetic analysis of the degenerating muscle (dmu) mouse: a new allele of Scn8a.
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- Human Molecular Genetics, 2001, v. 10, n. 16
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Mutations in the X-linked filamin 1 gene cause periventricular nodular heterotopia in males as well as in females.
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- Human Molecular Genetics, 2001, v. 10, n. 16, p. 1775, doi. 10.1093/hmg/10.17.1775
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The mutational spectrum of human malignant autosomal recessive osteopetrosis.
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- Human Molecular Genetics, 2001, v. 10, n. 16, p. 1767, doi. 10.1093/hmg/10.17.1767
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α -synuclein gene haplotypes are associated with Parkinson’s disease.
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- Human Molecular Genetics, 2001, v. 10, n. 16
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The sarcolemmal proteins dysferlin and caveolin-3 interact in skeletal muscle.
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- Human Molecular Genetics, 2001, v. 10, n. 16, p. 1
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Insights into psoriasis and other inflammatory diseases from large-scale gene expression studies.
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- Human Molecular Genetics, 2001, v. 10, n. 16
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Polyglutamine expansions cause decreased CRE-mediated transcription and early gene expression changes prior to cell death in an inducible cell model of Huntington’s disease.
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- Human Molecular Genetics, 2001, v. 10, n. 16
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The huntingtin interacting protein HIP1 is a clathrin and α-adaptin-binding protein involved in receptor-mediated endocytosis.
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- Human Molecular Genetics, 2001, v. 10, n. 16
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