Found: 13
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Increased nuclear but not cytoplasmic activities of CELF1 protein leads to muscle wasting.
- Published in:
- Human Molecular Genetics, 2020, v. 29, n. 10, p. 1729, doi. 10.1093/hmg/ddaa095
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- Publication type:
- Article
Lowe syndrome patient cells display mTOR- and RhoGTPase-dependent phenotypes alleviated by rapamycin and statins.
- Published in:
- Human Molecular Genetics, 2020, v. 29, n. 10, p. 1700, doi. 10.1093/hmg/ddaa086
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- Publication type:
- Article
Glucocerebrosidase deficiency promotes release of α-synuclein fibrils from cultured neurons.
- Published in:
- Human Molecular Genetics, 2020, v. 29, n. 10, p. 1716, doi. 10.1093/hmg/ddaa085
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- Publication type:
- Article
Twist1 induces chromosomal instability (CIN) in colorectal cancer cells.
- Published in:
- Human Molecular Genetics, 2020, v. 29, n. 10, p. 1673, doi. 10.1093/hmg/ddaa076
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- Publication type:
- Article
Pmp22 super-enhancer deletion causes tomacula formation and conduction block in peripheral nerves.
- Published in:
- Human Molecular Genetics, 2020, v. 29, n. 10, p. 1689, doi. 10.1093/hmg/ddaa082
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- Publication type:
- Article
ALS-associated genes in SCA2 mouse spinal cord transcriptomes.
- Published in:
- Human Molecular Genetics, 2020, v. 29, n. 10, p. 1658, doi. 10.1093/hmg/ddaa072
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- Publication type:
- Article
Otx2b mutant zebrafish have pituitary, eye and mandible defects that model mammalian disease.
- Published in:
- Human Molecular Genetics, 2020, v. 29, n. 10, p. 1648, doi. 10.1093/hmg/ddaa064
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- Publication type:
- Article
Deletion of the Impg2 gene causes the degeneration of rod and cone cells in mice.
- Published in:
- Human Molecular Genetics, 2020, v. 29, n. 10, p. 1624, doi. 10.1093/hmg/ddaa062
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- Publication type:
- Article
Ngly1<sup>−/−</sup> rats develop neurodegenerative phenotypes and pathological abnormalities in their peripheral and central nervous systems.
- Published in:
- Human Molecular Genetics, 2020, v. 29, n. 10, p. 1635, doi. 10.1093/hmg/ddaa059
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- Publication type:
- Article
Transcriptome changes during the initiation and progression of Duchenne muscular dystrophy in Caenorhabditis elegans.
- Published in:
- Human Molecular Genetics, 2020, v. 29, n. 10, p. 1607, doi. 10.1093/hmg/ddaa055
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- Publication type:
- Article
Recapitulation of the EEF1A2 D252H neurodevelopmental disorder-causing missense mutation in mice reveals a toxic gain of function.
- Published in:
- Human Molecular Genetics, 2020, v. 29, n. 10, p. 1592, doi. 10.1093/hmg/ddaa042
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- Publication type:
- Article
Genome-wide assessment of genetic risk for systemic lupus erythematosus and disease severity.
- Published in:
- Human Molecular Genetics, 2020, v. 29, n. 10, p. 1745, doi. 10.1093/hmg/ddaa030
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- Publication type:
- Article
Prostate cancer risk SNP rs10993994 is a trans-eQTL for SNHG11 mediated through MSMB.
- Published in:
- Human Molecular Genetics, 2020, v. 29, n. 10, p. 1581, doi. 10.1093/hmg/ddaa026
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- Publication type:
- Article