Works matching IS 09646906 AND DT 2019 AND VI 28 AND IP 6
Results: 15
Runx2 regulates cranial suture closure by inducing hedgehog, Fgf, Wnt and Pthlh signaling pathway gene expressions in suture mesenchymal cells.
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- Human Molecular Genetics, 2019, v. 28, n. 6, p. 896, doi. 10.1093/hmg/ddy386
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- Article
Mitochondrial energetics is impaired in very long-chain acyl-CoA dehydrogenase deficiency and can be rescued by treatment with mitochondria-targeted electron scavengers.
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- Human Molecular Genetics, 2019, v. 28, n. 6, p. 928, doi. 10.1093/hmg/ddy403
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- Article
Metabolic pathways modulate the neuronal toxicity associated with fragile X-associated tremor/ataxia syndrome.
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- Human Molecular Genetics, 2019, v. 28, n. 6, p. 980, doi. 10.1093/hmg/ddy410
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- Article
Loss of zebrafish Ataxin-7, a SAGA subunit responsible for SCA7 retinopathy, causes ocular coloboma and malformation of photoreceptors.
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- Human Molecular Genetics, 2019, v. 28, n. 6, p. 912, doi. 10.1093/hmg/ddy401
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- Article
Human SPG11 cerebral organoids reveal cortical neurogenesis impairment.
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- Human Molecular Genetics, 2019, v. 28, n. 6, p. 961, doi. 10.1093/hmg/ddy397
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- Article
Genomic analyses in African populations identify novel risk loci for cleft palate.
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- Human Molecular Genetics, 2019, v. 28, n. 6, p. 1038, doi. 10.1093/hmg/ddy402
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- Article
Enhancer deletion and allelic effects define a regulatory molecular mechanism at the VLDLR cholesterol GWAS locus.
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- Human Molecular Genetics, 2019, v. 28, n. 6, p. 888, doi. 10.1093/hmg/ddy385
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- Article
Enhanced axonal neuregulin-1 type-III signaling ameliorates neurophysiology and hypomyelination in a Charcot–Marie–Tooth type 1B mouse model.
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- Human Molecular Genetics, 2019, v. 28, n. 6, p. 992, doi. 10.1093/hmg/ddy411
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- Article
Dystrophinopathy-associated dysfunction of Krebs cycle metabolism.
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- Human Molecular Genetics, 2019, v. 28, n. 6, p. 942, doi. 10.1093/hmg/ddy404
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- Article
Dominant Noonan syndrome-causing LZTR1 mutations specifically affect the Kelch domain substrate-recognition surface and enhance RAS-MAPK signaling.
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- Human Molecular Genetics, 2019, v. 28, n. 6, p. 1007, doi. 10.1093/hmg/ddy412
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- Article
Corrigendum: Homozygous missense mutation L673P in adenylate kinase 7 (AK7) leads to primary male infertility and multiple morphological anomalies of the flagella but not to primary ciliary dyskinesia.
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- Human Molecular Genetics, 2019, v. 28, n. 6, p. 1052, doi. 10.1093/hmg/ddy368
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- Article
Clinical and functional characterization of recurrent missense variants implicated in THOC6 -related intellectual disability.
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- Human Molecular Genetics, 2019, v. 28, n. 6, p. 952, doi. 10.1093/hmg/ddy391
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- Article
Biallelic variants in FBXL3 cause intellectual disability, delayed motor development and short stature.
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- Human Molecular Genetics, 2019, v. 28, n. 6, p. 972, doi. 10.1093/hmg/ddy406
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- Article
Association of prolactin receptor (PRLR) variants with prolactinomas.
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- Human Molecular Genetics, 2019, v. 28, n. 6, p. 1023, doi. 10.1093/hmg/ddy396
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- Article
Altered GLI3 and FGF8 signaling underlies acrocallosal syndrome phenotypes in Kif7 depleted mice.
- Published in:
- Human Molecular Genetics, 2019, v. 28, n. 6, p. 877, doi. 10.1093/hmg/ddy392
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- Publication type:
- Article