Expanded polyglutamine peptides disrupt EGF receptor signaling and glutamate transporter expression in Drosophila.
- Published in:
- Human Molecular Genetics, 2005, v. 14, n. 5, p. 713, doi. 10.1093/hmg/ddi067
- By:
- Publication type:
- Article
Works matching IS 09646906 AND DT 2005 AND VI 14 AND IP 5
Results: 15
1
2
Predisposition to atypical hemolytic uremic syndrome involves the concurrence of different susceptibility alleles in the regulators of complement activation gene cluster in 1q32.
- Published in:
- Human Molecular Genetics, 2005, v. 14, n. 5, p. 703, doi. 10.1093/hmg/ddi066
- By:
- Publication type:
- Article
3
The Fanconi anemia pathway is required for the DNA replication stress response and for the regulation of common fragile site stability.
- Published in:
- Human Molecular Genetics, 2005, v. 14, n. 5, p. 693, doi. 10.1093/hmg/ddi065
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- Publication type:
- Article
4
Neuronal dysfunction in a polyglutamine disease model occurs in the absence of ubiquitin–proteasome system impairment and inversely correlates with the degree of nuclear inclusion formation.
- Published in:
- Human Molecular Genetics, 2005, v. 14, n. 5, p. 679, doi. 10.1093/hmg/ddi064
- By:
- Publication type:
- Article
5
A mutation in NFkB interacting protein 1 results in cardiomyopathy and abnormal skin development in wa3 mice.
- Published in:
- Human Molecular Genetics, 2005, v. 14, n. 5, p. 667, doi. 10.1093/hmg/ddi063
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- Publication type:
- Article
6
Localization and functional analysis of the LARGE family of glycosyltransferases: significance for muscular dystrophy.
- Published in:
- Human Molecular Genetics, 2005, v. 14, n. 5, p. 657, doi. 10.1093/hmg/ddi062
- By:
- Publication type:
- Article
7
Characterization of the nephrocystin/nephrocystin-4 complex and subcellular localization of nephrocystin-4 to primary cilia and centrosomes.
- Published in:
- Human Molecular Genetics, 2005, v. 14, n. 5, p. 645, doi. 10.1093/hmg/ddi061
- By:
- Publication type:
- Article
8
Haplotypes produced from rare variants in the promoter and coding regions of angiotensinogen contribute to variation in angiotensinogen levels.
- Published in:
- Human Molecular Genetics, 2005, v. 14, n. 5, p. 639, doi. 10.1093/hmg/ddi060
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- Publication type:
- Article
9
Essential role for the Prader–Willi syndrome protein necdin in axonal outgrowth.
- Published in:
- Human Molecular Genetics, 2005, v. 14, n. 5, p. 627, doi. 10.1093/hmg/ddi059
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- Publication type:
- Article
10
ζ−/− Thalassemic mice are affected by two modifying loci and display unanticipated somatic recombination leading to inherited variation.
- Published in:
- Human Molecular Genetics, 2005, v. 14, n. 5, p. 615, doi. 10.1093/hmg/ddi058
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- Publication type:
- Article
11
Germline hepatocyte nuclear factor 1α and 1β mutations in renal cell carcinomas.
- Published in:
- Human Molecular Genetics, 2005, v. 14, n. 5, p. 603, doi. 10.1093/hmg/ddi057
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- Publication type:
- Article
12
Genome-wide identification of cis-regulatory sequences controlling blood and endothelial development.
- Published in:
- Human Molecular Genetics, 2005, v. 14, n. 5, p. 595, doi. 10.1093/hmg/ddi056
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- Publication type:
- Article
13
Common arterial trunk associated with a homeodomain mutation of NKX2.6.
- Published in:
- Human Molecular Genetics, 2005, v. 14, n. 5, p. 585, doi. 10.1093/hmg/ddi055
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- Publication type:
- Article
14
Enamelin (Enam) is essential for amelogenesis: ENU-induced mouse mutants as models for different clinical subtypes of human amelogenesis imperfecta (AI).
- Published in:
- Human Molecular Genetics, 2005, v. 14, n. 5, p. 575, doi. 10.1093/hmg/ddi054
- By:
- Publication type:
- Article
15
The R6/2 transgenic mouse model of Huntington's disease develops diabetes due to deficient β-cell mass and exocytosis.
- Published in:
- Human Molecular Genetics, 2005, v. 14, n. 5, p. 565
- By:
- Publication type:
- Article