Found: 22
Select item for more details and to access through your institution.
High levels of sarcospan are well tolerated and act as a sarcolemmal stabilizer to address skeletal muscle and pulmonary dysfunction in DMD.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 24, p. 5395, doi. 10.1093/hmg/ddw356
- By:
- Publication type:
- Article
Retraction notice: the SMN structure reveals its crucial role in snRNP assembly.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 24, p. 5516, doi. 10.1093/hmg/ddw355
- Publication type:
- Article
DNA methylation-independent removable insulator controls chromatin remodeling at the HOXA locus via retinoic acid signaling.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 24, p. 5383, doi. 10.1093/hmg/ddw354
- By:
- Publication type:
- Article
Mitochondrial defects and neurodegeneration in mice overexpressing wild-type or G399S mutant HtrA2.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 24, p. 5513, doi. 10.1093/hmg/ddw353
- Publication type:
- Article
Evidence for mitochondrial genetic control of autosomal gene expression.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 24, p. 5332, doi. 10.1093/hmg/ddw347
- By:
- Publication type:
- Article
MeCP2 deficiency results in robust Rett-like behavioural and motor deficits in male and female rats.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 24, p. 5514, doi. 10.1093/hmg/ddw435
- Publication type:
- Article
The RING finger domain E3 ubiquitin ligases BRCA1 and the RNF20/RNF40 complex in global loss of the chromatin mark histone H2B monoubiquitination (H2Bub1) in cell line models and primary high-grade serous ovarian cancer.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 24, p. 5460, doi. 10.1093/hmg/ddw362
- By:
- Publication type:
- Article
Variegated yet non-random rod and cone photoreceptor disease patterns in RPGR-ORF15-associated retinal degeneration.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 24, p. 5444, doi. 10.1093/hmg/ddw361
- By:
- Publication type:
- Article
Embryonic forebrain transcriptome of mice with polyalanine expansion mutations in the ARX homeobox gene.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 24, p. 5433, doi. 10.1093/hmg/ddw360
- By:
- Publication type:
- Article
Attenuated pupillary light responses and downregulation of opsin expression parallel decline in circadian disruption in two different mouse models of Huntington's disease.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 24, p. 5418, doi. 10.1093/hmg/ddw359
- By:
- Publication type:
- Article
Fine-mapping of lipid regions in global populations discovers ethnic-specific signals and refines previously identified lipid loci.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 24, p. 5500, doi. 10.1093/hmg/ddw358
- By:
- Publication type:
- Article
Behavioural abnormalities in a novel mouse model for Silver Russell Syndrome.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 24, p. 5407, doi. 10.1093/hmg/ddw357
- By:
- Publication type:
- Article
Human R1441C LRRK2 regulates the synaptic vesicle proteome and phosphoproteome in a Drosophila model of Parkinson's disease.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 24, p. 5365, doi. 10.1093/hmg/ddw352
- By:
- Publication type:
- Article
Effects of the Bowen-Conradi syndrome mutation in EMG1 on its nuclear import, stability and nucleolar recruitment.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 24, p. 5353, doi. 10.1093/hmg/ddw351
- By:
- Publication type:
- Article
Structural analysis of X-linked retinoschisis mutations reveals distinct classes which differentially effect retinoschisin function.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 24, p. 5311, doi. 10.1093/hmg/ddw345
- By:
- Publication type:
- Article
Genome-wide association study of caffeine metabolites provides new insights to caffeine metabolism and dietary caffeine-consumption behavior.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 24, p. 5472, doi. 10.1093/hmg/ddw334
- By:
- Publication type:
- Article
Population structure of Han Chinese in the modern Taiwanese population based on 10,000 participants in the Taiwan Biobank project.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 24, p. 5321, doi. 10.1093/hmg/ddw346
- By:
- Publication type:
- Article
UV-B-induced cutaneous inflammation and prospects for antioxidant treatment in Kindler syndrome.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 24, p. 5339, doi. 10.1093/hmg/ddw350
- By:
- Publication type:
- Article
Prostate cancer risk regions at 8q24 and 17q24 are differentially associated with somatic TMPRSS2:ERG fusion status.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 24, p. 5490, doi. 10.1093/hmg/ddw349
- By:
- Publication type:
- Article
Additional rare variant analysis in Parkinson's disease cases with and without known pathogenic mutations: evidence for oligogenic inheritance.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 24, p. 5483, doi. 10.1093/hmg/ddw348
- By:
- Publication type:
- Article
Zfy genes are required for efficient meiotic sex chromosome inactivation (MSCI) in spermatocytes.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 24, p. 5300, doi. 10.1093/hmg/ddw344
- By:
- Publication type:
- Article
Germline missense pathogenic variants in the BRCA1 BRCT domain, p.Gly1706Glu and p.Ala1708Glu, increase cellular sensitivity to PARP inhibitor olaparib by a dominant negative effect.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 24, p. 5287, doi. 10.1093/hmg/ddw343
- By:
- Publication type:
- Article