Works matching IS 09646906 AND DT 2007 AND VI 16 AND IP 8
Results: 13
PGC-1α/β upregulation is associated with improved oxidative phosphorylation in cells harboring nonsense mtDNA mutations.
- Published in:
- Human Molecular Genetics, 2007, v. 16, n. 8, p. 993, doi. 10.1093/hmg/ddm045
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- Publication type:
- Article
Polyductin undergoes notch-like processing and regulated release from primary cilia.
- Published in:
- Human Molecular Genetics, 2007, v. 16, n. 8, p. 942, doi. 10.1093/hmg/ddm039
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- Publication type:
- Article
Calpain 3 participates in sarcomere remodeling by acting upstream of the ubiquitin-proteasome pathway.
- Published in:
- Human Molecular Genetics, 2007, v. 16, n. 8, p. 1006, doi. 10.1093/hmg/ddm044
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- Publication type:
- Article
Combined saposin C and D deficiencies in mice lead to a neuronopathic phenotype, glucosylceramide and α-hydroxy ceramide accumulation, and altered prosaposin trafficking.
- Published in:
- Human Molecular Genetics, 2007, v. 16, n. 8, p. 957, doi. 10.1093/hmg/ddm040
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- Publication type:
- Article
The archetypal R90C CADASIL–NOTCH3 mutation retains NOTCH3 function in vivo.
- Published in:
- Human Molecular Genetics, 2007, v. 16, n. 8, p. 982, doi. 10.1093/hmg/ddm042
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- Article
Transgenic expression of inclusion body myopathy associated mutant p97/VCP causes weakness and ubiquitinated protein inclusions in mice.
- Published in:
- Human Molecular Genetics, 2007, v. 16, n. 8, p. 919, doi. 10.1093/hmg/ddm037
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- Publication type:
- Article
Cellular and molecular studies of Marfan syndrome mutations identify co-operative protein folding in the cbEGF12–13 region of fibrillin-1.
- Published in:
- Human Molecular Genetics, 2007, v. 16, n. 8, p. 907, doi. 10.1093/hmg/ddm035
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- Publication type:
- Article
Tissue-specific imprinting of the ZAC/PLAGL1 tumour suppressor gene results from variable utilization of monoallelic and biallelic promoters.
- Published in:
- Human Molecular Genetics, 2007, v. 16, n. 8, p. 972, doi. 10.1093/hmg/ddm041
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- Publication type:
- Article
Evidence for novel susceptibility genes for late-onset Alzheimer's disease from a genome-wide association study of putative functional variants.
- Published in:
- Human Molecular Genetics, 2007, v. 16, n. 8, p. 865, doi. 10.1093/hmg/ddm031
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- Publication type:
- Article
Multiple roles for neurofibromin in skeletal development and growth.
- Published in:
- Human Molecular Genetics, 2007, v. 16, n. 8, p. 874, doi. 10.1093/hmg/ddm032
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- Publication type:
- Article
Corticosteroid-exacerbated symptoms in an Andersen's syndrome kindred.
- Published in:
- Human Molecular Genetics, 2007, v. 16, n. 8, p. 900, doi. 10.1093/hmg/ddm034
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- Publication type:
- Article
Epistatic interaction between haplotypes of the ghrelin ligand and receptor genes influence susceptibility to myocardial infarction and coronary artery disease.
- Published in:
- Human Molecular Genetics, 2007, v. 16, n. 8, p. 887, doi. 10.1093/hmg/ddm033
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- Publication type:
- Article
Mitochondrial frataxin interacts with ISD11 of the NFS1/ISCU complex and multiple mitochondrial chaperones.
- Published in:
- Human Molecular Genetics, 2007, v. 16, n. 8, p. 929, doi. 10.1093/hmg/ddm038
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- Publication type:
- Article