Works matching IS 09646906 AND DT 2023 AND VI 32 AND IP 8
Results: 14
Correction to: Reduced dynamin-related protein 1 protects against phosphorylated Tau-induced mitochondrial dysfunction and synaptic damage in Alzheimer's disease.
- Published in:
- Human Molecular Genetics, 2023, v. 32, n. 8, p. 1410, doi. 10.1093/hmg/ddac305
- Publication type:
- Article
A novel frameshift variant of LMX1A that leads to autosomal dominant non-syndromic sensorineural hearing loss: functional characterization of the C-terminal domain in LMX1A.
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- Human Molecular Genetics, 2023, v. 32, n. 8, p. 1348, doi. 10.1093/hmg/ddac301
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- Article
Upregulation of non-canonical and canonical inflammasome genes associates with pathological features in Krabbe disease and related disorders.
- Published in:
- Human Molecular Genetics, 2023, v. 32, n. 8, p. 1361, doi. 10.1093/hmg/ddac299
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- Article
Human TrkA<sup>R649W</sup> mutation impairs nociception, sweating and cognitive abilities: a mouse model of HSAN IV.
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- Human Molecular Genetics, 2023, v. 32, n. 8, p. 1380, doi. 10.1093/hmg/ddac295
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- Article
Artesunate ameliorates osteoarthritis cartilage damage by updating MTA1 expression and promoting the transcriptional activation of LXA4 to suppress the JAK2/STAT3 signaling pathway.
- Published in:
- Human Molecular Genetics, 2023, v. 32, n. 8, p. 1324, doi. 10.1093/hmg/ddac293
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- Article
Molecular basis of diseases induced by the mitochondrial DNA mutation m.9032T>C.
- Published in:
- Human Molecular Genetics, 2023, v. 32, n. 8, p. 1313, doi. 10.1093/hmg/ddac292
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- Publication type:
- Article
Antisense oligonucleotide induced pseudoexon skipping and restoration of functional protein for Fukuyama muscular dystrophy caused by a deep-intronic variant.
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- Human Molecular Genetics, 2023, v. 32, n. 8, p. 1301, doi. 10.1093/hmg/ddac286
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- Article
Derivation of a minimal functional XIST by combining human and mouse interaction domains.
- Published in:
- Human Molecular Genetics, 2023, v. 32, n. 8, p. 1289, doi. 10.1093/hmg/ddac285
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- Publication type:
- Article
A functional variant of CD40 modulates clearance of hepatitis B virus in hepatocytes via regulation of the ANXA2/CD40/BST2 axis.
- Published in:
- Human Molecular Genetics, 2023, v. 32, n. 8, p. 1334, doi. 10.1093/hmg/ddac284
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- Article
Clinically relevant mouse models of Charcot–Marie–Tooth type 2S.
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- Human Molecular Genetics, 2023, v. 32, n. 8, p. 1276, doi. 10.1093/hmg/ddac283
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- Publication type:
- Article
Functional analysis of germline RAD51C missense variants highlight the role of RAD51C in replication fork protection.
- Published in:
- Human Molecular Genetics, 2023, v. 32, n. 8, p. 1401, doi. 10.1093/hmg/ddac281
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- Publication type:
- Article
Identifying causal serum protein–cardiometabolic trait relationships using whole genome sequencing.
- Published in:
- Human Molecular Genetics, 2023, v. 32, n. 8, p. 1266, doi. 10.1093/hmg/ddac275
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- Publication type:
- Article
Reversing lysosome-ribosome circuit dysregulation mitigates C9FTD/ALS neurodegeneration and behaviors.
- Published in:
- Human Molecular Genetics, 2023, v. 32, n. 8, p. 1252, doi. 10.1093/hmg/ddac271
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- Publication type:
- Article
MATS: a novel multi-ancestry transcriptome-wide association study to account for heterogeneity in the effects of cis-regulated gene expression on complex traits.
- Published in:
- Human Molecular Genetics, 2023, v. 32, n. 8, p. 1237, doi. 10.1093/hmg/ddac247
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- Publication type:
- Article