Found: 13
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Influence of PRKCE non-synonymous variants on protein dynamics and functionality.
- Published in:
- Human Molecular Genetics, 2022, v. 31, n. 13, p. 2236, doi. 10.1093/hmg/ddac029
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- Publication type:
- Article
Two ovarian candidate enhancers, identified by time series enhancer RNA analyses, harbor rare genetic variations identified in ovarian insufficiency.
- Published in:
- Human Molecular Genetics, 2022, v. 31, n. 13, p. 2223, doi. 10.1093/hmg/ddac023
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- Publication type:
- Article
NSD1 mutations deregulate transcription and DNA methylation of bivalent developmental genes in Sotos syndrome.
- Published in:
- Human Molecular Genetics, 2022, v. 31, n. 13, p. 2164, doi. 10.1093/hmg/ddac026
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- Article
Correction to: Genome-wide association studies identify two novel loci conferring susceptibility to diabetic retinopathy in Japanese patients with type 2 diabetes.
- Published in:
- Human Molecular Genetics, 2022, v. 31, n. 13, p. 2294, doi. 10.1093/hmg/ddac090
- Publication type:
- Article
Multisystem involvement, defective lysosomes and impaired autophagy in a novel rat model of nephropathic cystinosis.
- Published in:
- Human Molecular Genetics, 2022, v. 31, n. 13, p. 2262, doi. 10.1093/hmg/ddac033
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- Publication type:
- Article
BTBD9 attenuates manganese-induced oxidative stress and neurotoxicity by regulating insulin growth factor signaling pathway.
- Published in:
- Human Molecular Genetics, 2022, v. 31, n. 13, p. 2207, doi. 10.1093/hmg/ddac025
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- Publication type:
- Article
renal inflammatory network of nephronophthisis.
- Published in:
- Human Molecular Genetics, 2022, v. 31, n. 13, p. 2121, doi. 10.1093/hmg/ddac014
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- Publication type:
- Article
Identification of the genetic mechanism that associates L3MBTL3 to multiple sclerosis.
- Published in:
- Human Molecular Genetics, 2022, v. 31, n. 13, p. 2155, doi. 10.1093/hmg/ddac009
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- Publication type:
- Article
TNFRSF10A downregulation induces retinal pigment epithelium degeneration during the pathogenesis of age-related macular degeneration and central serous chorioretinopathy.
- Published in:
- Human Molecular Genetics, 2022, v. 31, n. 13, p. 2194, doi. 10.1093/hmg/ddac020
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- Publication type:
- Article
Multiomics analyses reveal early metabolic imbalance and mitochondrial stress in neonatal photoreceptors leading to cell death in Pde6brd1/rd1 mouse model of retinal degeneration.
- Published in:
- Human Molecular Genetics, 2022, v. 31, n. 13, p. 2137, doi. 10.1093/hmg/ddac013
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- Publication type:
- Article
Ancestry- and sex-specific effects underlying inguinal hernia susceptibility identified in a multiethnic genome-wide association study meta-analysis.
- Published in:
- Human Molecular Genetics, 2022, v. 31, n. 13, p. 2279, doi. 10.1093/hmg/ddac003
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- Publication type:
- Article
Associations of genetic variation in E3 SUMO-protein ligase CBX4 with noise-induced hearing loss.
- Published in:
- Human Molecular Genetics, 2022, v. 31, n. 13, p. 2109, doi. 10.1093/hmg/ddac006
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- Publication type:
- Article
Single-cell transcription profiles in Bloom syndrome patients link BLM deficiency with altered condensin complex expression signatures.
- Published in:
- Human Molecular Genetics, 2022, v. 31, n. 13, p. 2185, doi. 10.1093/hmg/ddab373
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- Publication type:
- Article