Myotonic dystrophy associated expanded CUG repeat muscleblind positive ribonuclear foci are not toxic to Drosophila.
- Published in:
- Human Molecular Genetics, 2005, v. 14, n. 6, p. 873, doi. 10.1093/hmg/ddi080
- By:
- Publication type:
- Article
Works matching IS 09646906 AND DT 2005 AND VI 14 AND IP 6
Results: 13
1
2
SMNΔ7, the major product of the centromeric survival motor neuron (SMN2) gene, extends survival in mice with spinal muscular atrophy and associates with full-length SMN.
- Published in:
- Human Molecular Genetics, 2005, v. 14, n. 6, p. 845, doi. 10.1093/hmg/ddi078
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- Publication type:
- Article
3
A diastrophic dysplasia sulfate transporter (SLC26A2) mutant mouse: morphological and biochemical characterization of the resulting chondrodysplasia phenotype.
- Published in:
- Human Molecular Genetics, 2005, v. 14, n. 6, p. 859, doi. 10.1093/hmg/ddi079
- By:
- Publication type:
- Article
4
FMRP interferes with the Rac1 pathway and controls actin cytoskeleton dynamics in murine fibroblasts.
- Published in:
- Human Molecular Genetics, 2005, v. 14, n. 6, p. 835, doi. 10.1093/hmg/ddi077
- By:
- Publication type:
- Article
5
Linkage of familial hemophagocytic lymphohistiocytosis (FHL) type-4 to chromosome 6q24 and identification of mutations in syntaxin 11.
- Published in:
- Human Molecular Genetics, 2005, v. 14, n. 6, p. 827, doi. 10.1093/hmg/ddi076
- By:
- Publication type:
- Article
6
Defective sister-chromatid cohesion, aneuploidy and cancer predisposition in a mouse model of type II Rothmund–Thomson syndrome.
- Published in:
- Human Molecular Genetics, 2005, v. 14, n. 6, p. 813, doi. 10.1093/hmg/ddi075
- By:
- Publication type:
- Article
7
Genetic and genomic studies of Drosophila parkin mutants implicate oxidative stress and innate immune responses in pathogenesis.
- Published in:
- Human Molecular Genetics, 2005, v. 14, n. 6, p. 799, doi. 10.1093/hmg/ddi074
- By:
- Publication type:
- Article
8
Homologous pairing of 15q11–13 imprinted domains in brain is developmentally regulated but deficient in Rett and autism samples.
- Published in:
- Human Molecular Genetics, 2005, v. 14, n. 6, p. 785, doi. 10.1093/hmg/ddi073
- By:
- Publication type:
- Article
9
ɛ-Sarcoglycan compensates for lack of α-sarcoglycan in a mouse model of limb-girdle muscular dystrophy.
- Published in:
- Human Molecular Genetics, 2005, v. 14, n. 6, p. 775, doi. 10.1093/hmg/ddi072
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- Publication type:
- Article
10
A structure-based analysis of huntingtin mutant polyglutamine aggregation and toxicity: evidence for a compact beta-sheet structure.
- Published in:
- Human Molecular Genetics, 2005, v. 14, n. 6, p. 765, doi. 10.1093/hmg/ddi071
- By:
- Publication type:
- Article
11
The photoreceptor-specific nuclear receptor Nr2e3 interacts with Crx and exerts opposing effects on the transcription of rod versus cone genes.
- Published in:
- Human Molecular Genetics, 2005, v. 14, n. 6, p. 747, doi. 10.1093/hmg/ddi070
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- Publication type:
- Article
12
The Pax6 isoform bearing an alternative spliced exon promotes the development of the neural retinal structure.
- Published in:
- Human Molecular Genetics, 2005, v. 14, n. 6, p. 735, doi. 10.1093/hmg/ddi069
- By:
- Publication type:
- Article
13
Identification of a novel adult-onset primary open-angle glaucoma (POAG) gene on 5q22.1.
- Published in:
- Human Molecular Genetics, 2005, v. 14, n. 6, p. 725, doi. 10.1093/hmg/ddi068
- By:
- Publication type:
- Article