Works matching IS 09646906 AND DT 2013 AND VI 22 AND IP 25
Results: 23
Full-length PGC-1α salvages the phenotype of a mouse model of human neuropathy through mitochondrial proliferation.
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- Human Molecular Genetics, 2013, v. 22, n. 25, p. 5096, doi. 10.1093/hmg/ddt359
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- Article
Myc inhibition impairs autophagosome formation.
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- Human Molecular Genetics, 2013, v. 22, n. 25, p. 5237, doi. 10.1093/hmg/ddt381
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- Article
Subnormal levels of POLγA cause inefficient initiation of light-strand DNA synthesis and lead to mitochondrial DNA deletions and progressive external ophthalmoplegia.
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- Human Molecular Genetics, 2013, v. 22, n. 25, p. 5295, doi. 10.1093/hmg/ddt491
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- Article
CDK6 associates with the centrosome during mitosis and is mutated in a large Pakistani family with primary microcephaly.
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- Human Molecular Genetics, 2013, v. 22, n. 25, p. 5199, doi. 10.1093/hmg/ddt374
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- Article
Cover Page.
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- Human Molecular Genetics, 2013, v. 22, n. 25, p. NP, doi. 10.1093/hmg/ddt606
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- Article
Epigenetic regulation of COL15A1 in smooth muscle cell replicative aging and atherosclerosis.
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- Human Molecular Genetics, 2013, v. 22, n. 25, p. 5107, doi. 10.1093/hmg/ddt365
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- Article
Disease-associated MRE11 mutants impact ATM/ATR DNA damage signaling by distinct mechanisms.
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- Human Molecular Genetics, 2013, v. 22, n. 25, p. 5146, doi. 10.1093/hmg/ddt368
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- Article
Length-dependent CTG·CAG triplet-repeat expansion in myotonic dystrophy patient-derived induced pluripotent stem cells.
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- Human Molecular Genetics, 2013, v. 22, n. 25, p. 5276
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- Article
WT1 regulates the expression of inhibitory chemokines during heart development.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 25, p. 5083, doi. 10.1093/hmg/ddt358
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- Publication type:
- Article
Genome-wide association study identifies ZFHX1B as a susceptibility locus for severe myopia.
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- Human Molecular Genetics, 2013, v. 22, n. 25, p. 5288
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- Article
The lysosomal inhibitor, chloroquine, increases cell surface BMPR-II levels and restores BMP9 signalling in endothelial cells harbouring BMPR-II mutations.
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- Human Molecular Genetics, 2013, v. 22, n. 25, p. 5296, doi. 10.1093/hmg/ddt492
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- Article
Quantification of shape and cell polarity reveals a novel mechanism underlying malformations resulting from related FGF mutations during facial morphogenesis.
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- Human Molecular Genetics, 2013, v. 22, n. 25, p. 5160, doi. 10.1093/hmg/ddt369
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- Article
A defective Krab-domain zinc-finger transcription factor contributes to altered myogenesis in myotonic dystrophy type 1.
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- Human Molecular Genetics, 2013, v. 22, n. 25, p. 5188, doi. 10.1093/hmg/ddt373
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- Publication type:
- Article
Contents Page.
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- Human Molecular Genetics, 2013, v. 22, n. 25, p. NP, doi. 10.1093/hmg/ddt605
- Publication type:
- Article
Impaired amino acid metabolism contributes to fasting-induced hypoglycemia in fatty acid oxidation defects.
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- Human Molecular Genetics, 2013, v. 22, n. 25, p. 5249, doi. 10.1093/hmg/ddt382
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- Article
Congenital myopathy is caused by mutation of HACD1.
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- Human Molecular Genetics, 2013, v. 22, n. 25, p. 5229, doi. 10.1093/hmg/ddt380
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- Article
Vps33b pathogenic mutations preferentially affect VIPAS39/SPE-39-positive endosomes.
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- Human Molecular Genetics, 2013, v. 22, n. 25, p. 5215, doi. 10.1093/hmg/ddt378
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- Article
A GAA repeat expansion reporter model of Friedreich's ataxia recapitulates the genomic context and allows rapid screening of therapeutic compounds.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 25, p. 5173, doi. 10.1093/hmg/ddt370
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- Publication type:
- Article
Subscription Page.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 25, p. NP, doi. 10.1093/hmg/ddt608
- Publication type:
- Article
Non-exomic and synonymous variants in ABCA4 are an important cause of Stargardt disease.
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- Human Molecular Genetics, 2013, v. 22, n. 25, p. 5136, doi. 10.1093/hmg/ddt367
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- Article
A comprehensive molecular study on Coffin–Siris and Nicolaides–Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling.
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- Human Molecular Genetics, 2013, v. 22, n. 25, p. 5121, doi. 10.1093/hmg/ddt366
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- Article
Editorial Board.
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- Human Molecular Genetics, 2013, v. 22, n. 25, p. NP, doi. 10.1093/hmg/ddt607
- Publication type:
- Article
Armet/Manf and Creld2 are components of a specialized ER stress response provoked by inappropriate formation of disulphide bonds: implications for genetic skeletal diseases.
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- Human Molecular Genetics, 2013, v. 22, n. 25, p. 5262, doi. 10.1093/hmg/ddt383
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- Article