Found: 13
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Targeted deletion of an NRL- and CRX-regulated alternative promoter specifically silences FERM and PDZ domain containing 1 (Frmpd1) in rod photoreceptors.
- Published in:
- Human Molecular Genetics, 2019, v. 28, n. 5, p. 804, doi. 10.1093/hmg/ddy388
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- Publication type:
- Article
SPINT2 (HAI-2) missense variants identified in congenital sodium diarrhea/tufting enteropathy affect the ability of HAI-2 to inhibit prostasin but not matriptase.
- Published in:
- Human Molecular Genetics, 2019, v. 28, n. 5, p. 828, doi. 10.1093/hmg/ddy394
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- Publication type:
- Article
neuronal enhancer network upstream of MEF2C is compromised in patients with Rett-like characteristics.
- Published in:
- Human Molecular Genetics, 2019, v. 28, n. 5, p. 818, doi. 10.1093/hmg/ddy393
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- Article
Nucleoside supplementation modulates mitochondrial DNA copy number in the dguok −/− zebrafish.
- Published in:
- Human Molecular Genetics, 2019, v. 28, n. 5, p. 796, doi. 10.1093/hmg/ddy389
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- Article
Mitochondrial division inhibitor 1 reduces dynamin-related protein 1 and mitochondrial fission activity.
- Published in:
- Human Molecular Genetics, 2019, v. 28, n. 5, p. 875, doi. 10.1093/hmg/ddy399
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- Publication type:
- Article
Loss-of-function mutations in KIF14 cause severe microcephaly and kidney development defects in humans and zebrafish.
- Published in:
- Human Molecular Genetics, 2019, v. 28, n. 5, p. 778, doi. 10.1093/hmg/ddy381
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- Publication type:
- Article
Genome-wide chromatin accessibility and transcriptome profiling show minimal epigenome changes and coordinated transcriptional dysregulation of hedgehog signaling in Danforth's short tail mice.
- Published in:
- Human Molecular Genetics, 2019, v. 28, n. 5, p. 736, doi. 10.1093/hmg/ddy378
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- Publication type:
- Article
Genetic influences on susceptibility to rheumatoid arthritis in African-Americans.
- Published in:
- Human Molecular Genetics, 2019, v. 28, n. 5, p. 858, doi. 10.1093/hmg/ddy395
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- Publication type:
- Article
deubiquitinating enzyme Usp14 controls ciliogenesis and Hedgehog signaling.
- Published in:
- Human Molecular Genetics, 2019, v. 28, n. 5, p. 764, doi. 10.1093/hmg/ddy380
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- Publication type:
- Article
Candidate-based screening via gene modulation in human neurons and astrocytes implicates FERMT2 in A β and TAU proteostasis.
- Published in:
- Human Molecular Genetics, 2019, v. 28, n. 5, p. 718, doi. 10.1093/hmg/ddy376
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- Publication type:
- Article
BRCA1 represses DNA replication initiation through antagonizing estrogen signaling and maintains genome stability in parallel with WEE1–MCM2 signaling during pregnancy.
- Published in:
- Human Molecular Genetics, 2019, v. 28, n. 5, p. 842, doi. 10.1093/hmg/ddy398
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- Publication type:
- Article
c-Myc is a regulator of the PKD1 gene and PC1-induced pathogenesis.
- Published in:
- Human Molecular Genetics, 2019, v. 28, n. 5, p. 751, doi. 10.1093/hmg/ddy379
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- Publication type:
- Article
Altered social behavior in mice carrying a cortical Foxp2 deletion.
- Published in:
- Human Molecular Genetics, 2019, v. 28, n. 5, p. 701, doi. 10.1093/hmg/ddy372
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- Publication type:
- Article