Works matching IS 09646906 AND DT 2024 AND VI 33 AND IP 9
Results: 8
Clinical mutations in the TERT and TERC genes coding for telomerase components induced oxidative stress, DNA damage at telomeres and cell apoptosis besides decreased telomerase activity.
- Published in:
- Human Molecular Genetics, 2024, v. 33, n. 9, p. 818, doi. 10.1093/hmg/ddae015
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- Publication type:
- Article
Correction to: Enhanced tau pathology via RanBP9 and Hsp90/Hsc70 chaperone complexes.
- Published in:
- Human Molecular Genetics, 2024, v. 33, n. 9, p. 835, doi. 10.1093/hmg/ddae026
- Publication type:
- Article
Correction to: Exon-specific U1 snRNAs improve ELP1 exon 20 definition and rescue ELP1 protein expression in a familial dysautonomia mouse model.
- Published in:
- Human Molecular Genetics, 2024, v. 33, n. 9, p. 836, doi. 10.1093/hmg/ddae017
- Publication type:
- Article
Excessive tubulin glutamylation leads to progressive cone-rod dystrophy and loss of outer segment integrity.
- Published in:
- Human Molecular Genetics, 2024, v. 33, n. 9, p. 802, doi. 10.1093/hmg/ddae013
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- Publication type:
- Article
Deletion of a conserved genomic region associated with adolescent idiopathic scoliosis leads to vertebral rotation in mice.
- Published in:
- Human Molecular Genetics, 2024, v. 33, n. 9, p. 787, doi. 10.1093/hmg/ddae011
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- Publication type:
- Article
OPA1 mutation affects autophagy and triggers senescence in autosomal dominant optic atrophy plus fibroblasts.
- Published in:
- Human Molecular Genetics, 2024, v. 33, n. 9, p. 768, doi. 10.1093/hmg/ddae008
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- Publication type:
- Article
SPINT2 mutations in the Kunitz domain 2 found in SCSD patients inactivate HAI-2 as prostasin inhibitor via abnormal protein folding and N-glycosylation.
- Published in:
- Human Molecular Genetics, 2024, v. 33, n. 9, p. 752, doi. 10.1093/hmg/ddae005
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- Publication type:
- Article
High throughput functional profiling of genes at intraocular pressure loci reveals distinct networks for glaucoma.
- Published in:
- Human Molecular Genetics, 2024, v. 33, n. 9, p. 739, doi. 10.1093/hmg/ddae003
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- Publication type:
- Article