Works matching IS 09646906 AND DT 2002 AND VI 11 AND IP 21
Results: 14
A non-essential function for yeast frataxin in iron–sulfur cluster assembly.
- Published in:
- Human Molecular Genetics, 2002, v. 11, n. 21, p. 2635, doi. 10.1093/hmg/11.21.2635
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- Article
Skeletal, cardiac and tongue muscle pathology, defective retinal transmission, and neuronal migration defects in the Largemyd mouse defines a natural model for glycosylation-deficient muscle – eye – brain disorders.
- Published in:
- Human Molecular Genetics, 2002, v. 11, n. 21, p. 2673, doi. 10.1093/hmg/11.21.2673
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- Article
Single-nucleotide polymorphism haplotypes in the both proximal promoter and exon 3 of the APM1 gene modulate adipocyte-secreted adiponectin hormone levels and contribute to the genetic risk for type 2 diabetes in French Caucasians.
- Published in:
- Human Molecular Genetics, 2002, v. 11, n. 21, p. 2607, doi. 10.1093/hmg/11.21.2607
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- Publication type:
- Article
The disintegrin/metalloprotease ADAM 10 is essential for Notch signalling but not for α-secretase activity in fibroblasts.
- Published in:
- Human Molecular Genetics, 2002, v. 11, n. 21, p. 2615, doi. 10.1093/hmg/11.21.2615
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- Article
PACSIN 1 interacts with huntingtin and is absent from synaptic varicosities in presymptomatic Huntington's disease brains.
- Published in:
- Human Molecular Genetics, 2002, v. 11, n. 21, p. 2547, doi. 10.1093/hmg/11.21.2547
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- Article
Mutation of the signal peptide region of the bicistronic gene DSPP affects translocation to the endoplasmic reticulum and results in defective dentine biomineralization.
- Published in:
- Human Molecular Genetics, 2002, v. 11, n. 21, p. 2559, doi. 10.1093/hmg/11.21.2559
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- Article
DNA cross-link-dependent RAD50/MRE11/NBS1 subnuclear assembly requires the Fanconi anemia C protein.
- Published in:
- Human Molecular Genetics, 2002, v. 11, n. 21, p. 2531, doi. 10.1093/hmg/11.21.2531
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- Publication type:
- Article
Deletion of the mental retardation gene Gdi1 impairs associative memory and alters social behavior in mice.
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- Human Molecular Genetics, 2002, v. 11, n. 21, p. 2567, doi. 10.1093/hmg/11.21.2567
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- Article
Carriership of a defective tenascin-X gene in steroid 21-hydroxylase deficiency patients: TNXB –TNXA hybrids in apparent large-scale gene conversions.
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- Human Molecular Genetics, 2002, v. 11, n. 21, p. 2581, doi. 10.1093/hmg/11.21.2581
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- Article
Evidence for an inflammatory bowel disease locus on chromosome 3p26: linkage, transmission/disequilibrium and partitioning of linkage.
- Published in:
- Human Molecular Genetics, 2002, v. 11, n. 21, p. 2599, doi. 10.1093/hmg/11.21.2599
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- Article
Retention of pendrin in the endoplasmic reticulum is a major mechanism for Pendred syndrome.
- Published in:
- Human Molecular Genetics, 2002, v. 11, n. 21, p. 2625, doi. 10.1093/hmg/11.21.2625
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- Publication type:
- Article
Overexpression of a calpastatin transgene in mdx muscle reduces dystrophic pathology.
- Published in:
- Human Molecular Genetics, 2002, v. 11, n. 21, p. 2645, doi. 10.1093/hmg/11.21.2645
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- Article
Suppression of polyglutamine toxicity by a Drosophila homolog of myeloid leukemia factor 1.
- Published in:
- Human Molecular Genetics, 2002, v. 11, n. 21, p. 2657, doi. 10.1093/hmg/11.21.2657
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- Publication type:
- Article
BRCA1 interacts directly with the Fanconi anemia protein FANCA.
- Published in:
- Human Molecular Genetics, 2002, v. 11, n. 21, p. 2591, doi. 10.1093/hmg/11.21.2591
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- Publication type:
- Article