Works matching IS 09646906 AND DT 2022 AND VI 31 AND IP 5
Results: 14
Sensitive quantification of m.3243A>G mutational proportion in non-retinal tissues and its relationship with visual symptoms.
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- Human Molecular Genetics, 2022, v. 31, n. 5, p. 775, doi. 10.1093/hmg/ddab289
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- Article
Mycn deficiency underlies the development of orofacial clefts in mice and humans.
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- Human Molecular Genetics, 2022, v. 31, n. 5, p. 803, doi. 10.1093/hmg/ddab288
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- Article
Relationship between glucose homeostasis and obesity in early life—a study of Italian children and adolescents.
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- Human Molecular Genetics, 2022, v. 31, n. 5, p. 816, doi. 10.1093/hmg/ddab287
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- Article
Mutations at a split codon in the GTPase-encoding domain of OPA1 cause dominant optic atrophy through different molecular mechanisms.
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- Human Molecular Genetics, 2022, v. 31, n. 5, p. 761, doi. 10.1093/hmg/ddab286
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- Article
α-synuclein inhibits Snx3-retromer retrograde trafficking of the conserved membrane-bound proprotein convertase Kex2 in the secretory pathway of Saccharomyces cerevisiae.
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- Human Molecular Genetics, 2022, v. 31, n. 5, p. 705, doi. 10.1093/hmg/ddab284
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- Article
Enhanced glycolysis and GSK3 inactivation promote brain metabolic adaptations following neuronal mitochondrial stress.
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- Human Molecular Genetics, 2022, v. 31, n. 5, p. 692, doi. 10.1093/hmg/ddab282
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- Article
Lysosomes and the pathogenesis of merosin-deficient congenital muscular dystrophy.
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- Human Molecular Genetics, 2022, v. 31, n. 5, p. 733, doi. 10.1093/hmg/ddab278
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- Article
Neuroligin-3 and neuroligin-4X form nanoscopic clusters and regulate growth cone organization and size.
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- Human Molecular Genetics, 2022, v. 31, n. 5, p. 674, doi. 10.1093/hmg/ddab277
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- Article
Sarcospan increases laminin-binding capacity of α-dystroglycan to ameliorate DMD independent of Galgt2.
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- Human Molecular Genetics, 2022, v. 31, n. 5, p. 718, doi. 10.1093/hmg/ddab276
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- Article
Blood copper and risk of cardiometabolic diseases: a Mendelian randomization study.
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- Human Molecular Genetics, 2022, v. 31, n. 5, p. 783, doi. 10.1093/hmg/ddab275
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- Article
Epilepsy-causing Reelin mutations result in impaired secretion and intracellular degradation of mutant proteins.
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- Human Molecular Genetics, 2022, v. 31, n. 5, p. 665, doi. 10.1093/hmg/ddab271
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- Article
GWAS meta-analysis followed by Mendelian randomization revealed potential control mechanisms for circulating α-Klotho levels.
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- Human Molecular Genetics, 2022, v. 31, n. 5, p. 792, doi. 10.1093/hmg/ddab263
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- Article
High-resolution breakpoint junction mapping of proximally extended D4Z4 deletions in FSHD1 reveals evidence for a founder effect.
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- Human Molecular Genetics, 2022, v. 31, n. 5, p. 748, doi. 10.1093/hmg/ddab250
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- Article
genome-first approach to rare variants in hypertrophic cardiomyopathy genes MYBPC3 and MYH7 in a medical biobank.
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- Human Molecular Genetics, 2022, v. 31, n. 5, p. 827, doi. 10.1093/hmg/ddab249
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- Article