Works matching IS 09646906 AND DT 2022 AND VI 31 AND IP 15
Results: 15
Ubiquitination at the lysine 27 residue of the Parkin ubiquitin-like domain is suggestive of a new mechanism of Parkin activation.
- Published in:
- Human Molecular Genetics, 2022, v. 31, n. 15, p. 2623, doi. 10.1093/hmg/ddac064
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- Publication type:
- Article
Whole-exome sequencing and functional validation reveal a rare missense variant in MMP7 that confers ovarian endometriosis risk.
- Published in:
- Human Molecular Genetics, 2022, v. 31, n. 15, p. 2595, doi. 10.1093/hmg/ddac062
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- Article
Correction to: Pyridox (am) ine 5'-phosphate oxidase deficiency induces seizures in Drosophila melanogaster.
- Published in:
- Human Molecular Genetics, 2022, v. 31, n. 15, p. 2668, doi. 10.1093/hmg/ddac058
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- Article
PCARE requires coiled coil, RP62 kinase-binding and EVH1 domain-binding motifs for ciliary expansion.
- Published in:
- Human Molecular Genetics, 2022, v. 31, n. 15, p. 2560, doi. 10.1093/hmg/ddac057
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- Article
L1 chimeric transcripts are expressed in healthy brain and their deregulation in glioma follows that of their host locus.
- Published in:
- Human Molecular Genetics, 2022, v. 31, n. 15, p. 2606, doi. 10.1093/hmg/ddac056
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- Article
CAMLG-CDG: a novel congenital disorder of glycosylation linked to defective membrane trafficking.
- Published in:
- Human Molecular Genetics, 2022, v. 31, n. 15, p. 2571, doi. 10.1093/hmg/ddac055
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- Publication type:
- Article
Thyroid function, pernicious anemia and erythropoiesis: a two-sample Mendelian randomization study.
- Published in:
- Human Molecular Genetics, 2022, v. 31, n. 15, p. 2548, doi. 10.1093/hmg/ddac052
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- Article
mTOR pathway repressing expression of FoxO3 is a potential mechanism involved in neonatal white matter dysplasia.
- Published in:
- Human Molecular Genetics, 2022, v. 31, n. 15, p. 2508, doi. 10.1093/hmg/ddac049
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- Publication type:
- Article
RIPK4 regulates cell–cell adhesion in epidermal development and homeostasis.
- Published in:
- Human Molecular Genetics, 2022, v. 31, n. 15, p. 2535, doi. 10.1093/hmg/ddac046
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- Article
Genome-wide association study and functional follow-up identify 14q12 as a candidate risk locus for cervical cancer.
- Published in:
- Human Molecular Genetics, 2022, v. 31, n. 15, p. 2483, doi. 10.1093/hmg/ddac031
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- Publication type:
- Article
Non-canonical initiation factors modulate repeat-associated non-AUG translation.
- Published in:
- Human Molecular Genetics, 2022, v. 31, n. 15, p. 2521, doi. 10.1093/hmg/ddac021
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- Article
CHAMP1 disorder is associated with a complex neurobehavioral phenotype including autism, ADHD, repetitive behaviors and sensory symptoms.
- Published in:
- Human Molecular Genetics, 2022, v. 31, n. 15, p. 2582, doi. 10.1093/hmg/ddac018
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- Publication type:
- Article
Phenome-wide association study of the major histocompatibility complex region in the Korean population identifies novel association signals.
- Published in:
- Human Molecular Genetics, 2022, v. 31, n. 15, p. 2655, doi. 10.1093/hmg/ddac016
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- Publication type:
- Article
XBP1 variant 1 promotes mitosis of cancer cells involving upregulation of the polyglutamylase TTLL6.
- Published in:
- Human Molecular Genetics, 2022, v. 31, n. 15, p. 2639, doi. 10.1093/hmg/ddac010
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- Publication type:
- Article
Mitochondrial oxidative stress contributes to the pathological aggregation and accumulation of tau oligomers in Alzheimer's disease.
- Published in:
- Human Molecular Genetics, 2022, v. 31, n. 15, p. 2498, doi. 10.1093/hmg/ddab363
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- Publication type:
- Article