Found: 15
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Functionally oriented analysis of cardiometabolic traits in a trans-ethnic sample.
- Published in:
- Human Molecular Genetics, 2019, v. 28, n. 7, p. 1212, doi. 10.1093/hmg/ddy435
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- Publication type:
- Article
CREB activation in hypertrophic chondrocytes is involved in the skeletal overgrowth in epiphyseal chondrodysplasia Miura type caused by activating mutations of natriuretic peptide receptor B.
- Published in:
- Human Molecular Genetics, 2019, v. 28, n. 7, p. 1183, doi. 10.1093/hmg/ddy428
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- Article
Genome-wide association analyses identify 139 loci associated with macular thickness in the UK Biobank cohort.
- Published in:
- Human Molecular Genetics, 2019, v. 28, n. 7, p. 1162, doi. 10.1093/hmg/ddy422
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- Article
Evidence that ITGB3 promoter variants increase serotonin blood levels by regulating platelet serotonin transporter trafficking.
- Published in:
- Human Molecular Genetics, 2019, v. 28, n. 7, p. 1153, doi. 10.1093/hmg/ddy421
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- Article
Hereditary spastic paraplegia: gain-of-function mechanisms revealed by new transgenic mouse.
- Published in:
- Human Molecular Genetics, 2019, v. 28, n. 7, p. 1136, doi. 10.1093/hmg/ddy419
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- Publication type:
- Article
Persistent upregulation of the β-tubulin tubb6, linked to muscle regeneration, is a source of microtubule disorganization in dystrophic muscle.
- Published in:
- Human Molecular Genetics, 2019, v. 28, n. 7, p. 1117, doi. 10.1093/hmg/ddy418
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- Publication type:
- Article
Structural basis for adPEO-causing mutations in the mitochondrial TWINKLE helicase.
- Published in:
- Human Molecular Genetics, 2019, v. 28, n. 7, p. 1090, doi. 10.1093/hmg/ddy415
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- Publication type:
- Article
Analysis of hidradenitis suppurativa–linked mutations in four genes and the effects of PSEN1-P242LfsX11 on cytokine and chemokine expression in macrophages.
- Published in:
- Human Molecular Genetics, 2019, v. 28, n. 7, p. 1173, doi. 10.1093/hmg/ddy414
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- Article
PD-linked CHCHD2 mutations impair CHCHD10 and MICOS complex leading to mitochondria dysfunction.
- Published in:
- Human Molecular Genetics, 2019, v. 28, n. 7, p. 1100, doi. 10.1093/hmg/ddy413
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- Article
Sequence variants associating with urinary biomarkers.
- Published in:
- Human Molecular Genetics, 2019, v. 28, n. 7, p. 1199, doi. 10.1093/hmg/ddy409
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- Publication type:
- Article
Corrigendum: SLP-2 interacts with Parkin in mitochondria and prevents mitochondrial dysfunction in Parkin-deficient human iPSC-derived neurons and Drosophila.
- Published in:
- Human Molecular Genetics, 2019, v. 28, n. 7, p. 1225, doi. 10.1093/hmg/ddy408
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- Publication type:
- Article
Corrigendum: Increased cytoplasmic TDP-43 reduces global protein synthesis by interacting with RACK1 on polyribosomes.
- Published in:
- Human Molecular Genetics, 2019, v. 28, n. 7, p. 1226, doi. 10.1093/hmg/ddy407
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- Publication type:
- Article
Single-cell RNA sequencing in facioscapulohumeral muscular dystrophy disease etiology and development.
- Published in:
- Human Molecular Genetics, 2019, v. 28, n. 7, p. 1064, doi. 10.1093/hmg/ddy400
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- Article
Specific inhibition of myostatin activation is beneficial in mouse models of SMA therapy.
- Published in:
- Human Molecular Genetics, 2019, v. 28, n. 7, p. 1076, doi. 10.1093/hmg/ddy382
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- Publication type:
- Article
Detecting genetic modifiers of spondyloepimetaphyseal dysplasia with joint laxity in the Caucasian Afrikaner community.
- Published in:
- Human Molecular Genetics, 2019, v. 28, n. 7, p. 1053, doi. 10.1093/hmg/ddy373
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- Publication type:
- Article