Works matching IS 09646906 AND DT 2023 AND VI 32 AND IP 5
Results: 15
Trans-ancestry, Bayesian meta-analysis discovers 20 novel risk loci for inflammatory bowel disease in an African American, East Asian and European cohort.
- Published in:
- Human Molecular Genetics, 2023, v. 32, n. 5, p. 873, doi. 10.1093/hmg/ddac269
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- Article
Correction to: Novel Drosophila model of myotonic dystrophy type 1: phenotypic characterization and genome-wide view of altered gene expression.
- Published in:
- Human Molecular Genetics, 2023, v. 32, n. 5, p. 883, doi. 10.1093/hmg/ddad010
- Publication type:
- Article
Identifying an oligodendrocyte enhancer that regulates Olig2 expression.
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- Human Molecular Genetics, 2023, v. 32, n. 5, p. 835, doi. 10.1093/hmg/ddac249
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- Article
Germline de novo variant F747S extends the phenotypic spectrum of CACNA1D Ca<sup>2+</sup> channelopathies.
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- Human Molecular Genetics, 2023, v. 32, n. 5, p. 847, doi. 10.1093/hmg/ddac248
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- Article
Cell-trafficking impairment in disease-associated LPA6 missense mutants and a potential pharmacoperone therapy for autosomal recessive woolly hair/hypotrichosis.
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- Human Molecular Genetics, 2023, v. 32, n. 5, p. 825, doi. 10.1093/hmg/ddac244
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- Article
Genetic tuning of β-carotene oxygenase-1 activity rescues cone photoreceptor function in STRA6-deficient mice.
- Published in:
- Human Molecular Genetics, 2023, v. 32, n. 5, p. 798, doi. 10.1093/hmg/ddac242
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- Article
Supt16 haploinsufficiency causes neurodevelopment disorder by disrupting MAPK pathway in neural stem cells.
- Published in:
- Human Molecular Genetics, 2023, v. 32, n. 5, p. 860, doi. 10.1093/hmg/ddac240
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- Publication type:
- Article
Histidine supplementation can escalate or rescue HARS deficiency in a Charcot–Marie–Tooth disease model.
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- Human Molecular Genetics, 2023, v. 32, n. 5, p. 810, doi. 10.1093/hmg/ddac239
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- Article
GWAS of genetic factors affecting white blood cell morphological parameters in Sardinians uncovers influence of chromosome 11 innate immunity gene cluster on eosinophil morphology.
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- Human Molecular Genetics, 2023, v. 32, n. 5, p. 790, doi. 10.1093/hmg/ddac238
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- Article
Nuclear envelope protein lamin B receptor protects the genome from chromosomal instability and tumorigenesis.
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- Human Molecular Genetics, 2023, v. 32, n. 5, p. 745, doi. 10.1093/hmg/ddac235
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- Article
The GBA variant E326K is associated with alpha-synuclein aggregation and lipid droplet accumulation in human cell lines.
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- Human Molecular Genetics, 2023, v. 32, n. 5, p. 773, doi. 10.1093/hmg/ddac233
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- Article
A novel recessive mutation in OXR1 is identified in patient with hearing loss recapitulated by the knockdown zebrafish.
- Published in:
- Human Molecular Genetics, 2023, v. 32, n. 5, p. 764, doi. 10.1093/hmg/ddac229
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- Article
Functional assessment of homozygous ALDH18A1 variants reveals alterations in amino acid and antioxidant metabolism.
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- Human Molecular Genetics, 2023, v. 32, n. 5, p. 732, doi. 10.1093/hmg/ddac226
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- Publication type:
- Article
A non-coding variant in 5' untranslated region drove up-regulation of pseudo-kinase EPHA10 and caused non-syndromic hearing loss in humans.
- Published in:
- Human Molecular Genetics, 2023, v. 32, n. 5, p. 720, doi. 10.1093/hmg/ddac223
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- Publication type:
- Article
Socioeconomic changes predict genome-wide DNA methylation in childhood.
- Published in:
- Human Molecular Genetics, 2023, v. 32, n. 5, p. 709, doi. 10.1093/hmg/ddac171
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- Publication type:
- Article