Rare genetic variants underlie outlying levels of DNA methylation and gene-expression.
- Published in:
- Human Molecular Genetics, 2023, v. 32, n. 11, p. 1912, doi. 10.1093/hmg/ddad028
- By:
- Publication type:
- Article
Works matching IS 09646906 AND DT 2023 AND VI 32 AND IP 11
Results: 17
1
2
Correction to: SCN1A: bioinformatically informed revised boundaries for promoter and enhancer regions.
- Published in:
- Human Molecular Genetics, 2023, v. 32, n. 11, p. 1944, doi. 10.1093/hmg/ddad071
- Publication type:
- Article
3
Correction to: Parkin regulates neuronal lipid homeostasis through SREBP2-lipoprotein lipase pathway—implications for Parkinson's disease.
- Published in:
- Human Molecular Genetics, 2023, v. 32, n. 11, p. 1943, doi. 10.1093/hmg/ddad068
- Publication type:
- Article
4
Circulating triglycerides are associated with human adipose tissue DNA methylation of genes linked to metabolic disease.
- Published in:
- Human Molecular Genetics, 2023, v. 32, n. 11, p. 1875, doi. 10.1093/hmg/ddad024
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- Publication type:
- Article
5
Acid ceramidase involved in pathogenic cascade leading to accumulation of α-synuclein in iPSC model of GBA1-associated Parkinson's disease.
- Published in:
- Human Molecular Genetics, 2023, v. 32, n. 11, p. 1888, doi. 10.1093/hmg/ddad025
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- Publication type:
- Article
6
Analysis of exome data in a UK cohort of 603 patients with syndromic orofacial clefting identifies causal molecular pathways.
- Published in:
- Human Molecular Genetics, 2023, v. 32, n. 11, p. 1932, doi. 10.1093/hmg/ddad023
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- Publication type:
- Article
7
CEBPB regulates the migration, invasion and EMT of breast cancer cells by inhibiting THBS2 expression and O-fucosylation.
- Published in:
- Human Molecular Genetics, 2023, v. 32, n. 11, p. 1850, doi. 10.1093/hmg/ddad022
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- Publication type:
- Article
8
Human DUX4 and porcine DUXC activate similar early embryonic programs in pig muscle cells: implications for preclinical models of FSHD.
- Published in:
- Human Molecular Genetics, 2023, v. 32, n. 11, p. 1864, doi. 10.1093/hmg/ddad021
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- Publication type:
- Article
9
Potentiation of neuromuscular transmission by a small molecule calcium channel gating modifier improves motor function in a severe spinal muscular atrophy mouse model.
- Published in:
- Human Molecular Genetics, 2023, v. 32, n. 11, p. 1901, doi. 10.1093/hmg/ddad019
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- Publication type:
- Article
10
Nicotinamide riboside rescues dysregulated glycolysis and fatty acid β-oxidation in a human hepatic cell model of citrin deficiency.
- Published in:
- Human Molecular Genetics, 2023, v. 32, n. 11, p. 1922, doi. 10.1093/hmg/ddad018
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- Publication type:
- Article
11
A novel cancer risk prediction score for the natural course of FA patients with biallelic BRCA2/FANCD1 mutations.
- Published in:
- Human Molecular Genetics, 2023, v. 32, n. 11, p. 1836, doi. 10.1093/hmg/ddad017
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- Publication type:
- Article
12
Accelerated epigenetic aging and DNA methylation alterations in Berardinelli–Seip congenital lipodystrophy.
- Published in:
- Human Molecular Genetics, 2023, v. 32, n. 11, p. 1826, doi. 10.1093/hmg/ddad016
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- Publication type:
- Article
13
Population-based genetic analysis in infertile men reveals novel mutations of ADAD family members in patients with impaired spermatogenesis.
- Published in:
- Human Molecular Genetics, 2023, v. 32, n. 11, p. 1814, doi. 10.1093/hmg/ddad012
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- Publication type:
- Article
14
Predicting brain-regional gene regulatory networks from multi-omics for Alzheimer's disease phenotypes and Covid-19 severity.
- Published in:
- Human Molecular Genetics, 2023, v. 32, n. 11, p. 1797, doi. 10.1093/hmg/ddad009
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- Publication type:
- Article
15
Identification of potential causal metabolites associated with atopic dermatitis.
- Published in:
- Human Molecular Genetics, 2023, v. 32, n. 11, p. 1786, doi. 10.1093/hmg/ddad005
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- Publication type:
- Article
16
A Caenorhabditis elegans model of autosomal dominant adult-onset neuronal ceroid lipofuscinosis identifies ethosuximide as a potential therapeutic.
- Published in:
- Human Molecular Genetics, 2023, v. 32, n. 11, p. 1772, doi. 10.1093/hmg/ddac263
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- Publication type:
- Article
17
Analysis for variable manifestations and molecular characteristics of pyridox(am)ine-5′-phosphate oxidase (PNPO) deficiency.
- Published in:
- Human Molecular Genetics, 2023, v. 32, n. 11, p. 1765, doi. 10.1093/hmg/ddac234
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- Publication type:
- Article