Found: 16
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Cingulin regulates hair cell cuticular plate morphology and is required for hearing in human and mouse.
- Published in:
- EMBO Molecular Medicine, 2023, v. 15, n. 11, p. 1, doi. 10.15252/emmm.202317611
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- Publication type:
- Article
CRISPR/Cas9-Mediated Allele-Specific Disruption of a Dominant COL6A1 Pathogenic Variant Improves Collagen VI Network in Patient Fibroblasts.
- Published in:
- International Journal of Molecular Sciences, 2022, v. 23, n. 8, p. 4410, doi. 10.3390/ijms23084410
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- Publication type:
- Article
Selective miRNA inhibition in CD8+ cytotoxic T lymphocytes enhances HIV-1 specific cytotoxic responses.
- Published in:
- Frontiers in Immunology, 2022, v. 13, p. 1, doi. 10.3389/fimmu.2022.998368
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- Publication type:
- Article
An ENU-induced mutation of miR-96 associated with progressive hearing loss in mice.
- Published in:
- Nature Genetics, 2009, v. 41, n. 5, p. 614, doi. 10.1038/ng.369
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- Publication type:
- Article
Mutations in the seed region of human miR-96 are responsible for nonsyndromic progressive hearing loss.
- Published in:
- Nature Genetics, 2009, v. 41, n. 5, p. 609, doi. 10.1038/ng.355
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- Publication type:
- Article
Pathological mechanisms and candidate therapeutic approaches in the hearing loss of mice carrying human MIR96 mutations.
- Published in:
- Genome Medicine, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13073-024-01394-5
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- Publication type:
- Article
Therapeutic Potential of EWSR1–FLI1 Inactivation by CRISPR/Cas9 in Ewing Sarcoma.
- Published in:
- Cancers, 2021, v. 13, n. 15, p. 3783, doi. 10.3390/cancers13153783
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- Publication type:
- Article
Pathogenic variants of the coenzyme A biosynthesis‐associated enzyme phosphopantothenoylcysteine decarboxylase cause autosomal‐recessive dilated cardiomyopathy.
- Published in:
- Journal of Inherited Metabolic Disease, 2023, v. 46, n. 2, p. 261, doi. 10.1002/jimd.12584
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- Publication type:
- Article
Characterization of a spontaneous, recessive, missense mutation arising in the Tecta gene.
- Published in:
- 2008
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- Publication type:
- journal article
Parental Mosaicism in PAX6 Causes Intra-Familial Variability: Implications for Genetic Counseling of Congenital Aniridia and Microphthalmia.
- Published in:
- Frontiers in Genetics, 2018, p. N.PAG, doi. 10.3389/fgene.2018.00479
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- Publication type:
- Article
Three deaf mice: mouse models for TECTA-based human hereditary deafness reveal domain-specific structural phenotypes in the tectorial membrane.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 10, p. 2551, doi. 10.1093/hmg/ddt646
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- Publication type:
- Article
KCNQ4 K<sup>+</sup> channels tune mechanoreceptors for normal touch sensation in mouse and man.
- Published in:
- Nature Neuroscience, 2012, v. 15, n. 1, p. 138, doi. 10.1038/nn.2985
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- Publication type:
- Article
In vivo and in vitro effects of two novel gamma-actin (ACTG1) mutations that cause DFNA20/26 hearing impairment.
- Published in:
- Human Molecular Genetics, 2009, v. 18, n. 16, p. 3075
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- Publication type:
- Article
A Novel Truncating Mutation in HOMER2 Causes Nonsyndromic Progressive DFNA68 Hearing Loss in a Spanish Family.
- Published in:
- Genes, 2021, v. 12, n. 3, p. 411, doi. 10.3390/genes12030411
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- Publication type:
- Article
Three New Mutations and Mild, Asymmetrical Phenotype in the Highly Distinctive LAMM Syndrome: A Report of Eight Further Cases.
- Published in:
- Genes, 2019, v. 10, n. 7, p. 529, doi. 10.3390/genes10070529
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- Publication type:
- Article
Novel mutations in the KCNJ10 gene associated to a distinctive ataxia, sensorineural hearing loss and spasticity clinical phenotype.
- Published in:
- Neurogenetics, 2020, v. 21, n. 2, p. 135, doi. 10.1007/s10048-020-00605-6
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- Publication type:
- Article