Found: 34
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CHD7 variants associated with hearing loss and enlargement of the vestibular aqueduct.
- Published in:
- Human Genetics, 2023, v. 142, n. 10, p. 1499, doi. 10.1007/s00439-023-02581-x
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- Publication type:
- Article
Molecular architecture underlying fluid absorption by the developing inner ear.
- Published in:
- eLife, 2017, p. 1, doi. 10.7554/eLife.26851
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- Publication type:
- Article
Mutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humans.
- Published in:
- Nature Genetics, 2008, v. 40, n. 11, p. 1335, doi. 10.1038/ng.245
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- Publication type:
- Article
Single-cell RNA-Seq resolves cellular complexity in sensory organs from the neonatal inner ear.
- Published in:
- Scientific Reports, 2015, p. 8557, doi. 10.1038/ncomms9557
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- Publication type:
- Article
A twin study of auditory processing indicates that dichotic listening ability is a strongly heritable trait.
- Published in:
- Human Genetics, 2007, v. 122, n. 1, p. 103, doi. 10.1007/s00439-007-0384-5
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- Publication type:
- Article
Challenges and solutions for gene identification in the presence of familial locus heterogeneity.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 9, p. 1207, doi. 10.1038/ejhg.2014.266
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- Publication type:
- Article
DFNB79: reincarnation of a nonsyndromic deafness locus on chromosome 9q34.3.
- Published in:
- European Journal of Human Genetics, 2010, v. 18, n. 1, p. 125, doi. 10.1038/ejhg.2009.121
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- Publication type:
- Article
The Inner Ear Heat Shock Transcriptional Signature Identifies Compounds That Protect Against Aminoglycoside Ototoxicity.
- Published in:
- Frontiers in Cellular Neuroscience, 2018, p. N.PAG, doi. 10.3389/fncel.2018.00445
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- Publication type:
- Article
Modifier variant of METTL13 suppresses human GAB1-associated profound deafness.
- Published in:
- 2018
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- Publication type:
- journal article
Single-cell RNA-Seq resolves cellular complexity in sensory organs from the neonatal inner ear.
- Published in:
- Nature Communications, 2015, v. 6, n. 10, p. 8557, doi. 10.1038/ncomms9557
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- Publication type:
- Article
A dysbiotic microbiome triggers T<sub>H</sub>17 cells to mediate oral mucosal immunopathology in mice and humans.
- Published in:
- Science Translational Medicine, 2018, v. 10, n. 463, p. 1, doi. 10.1126/scitranslmed.aat0797
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- Publication type:
- Article
Homozygous novel truncating variant of CLPP associated with severe Perrault syndrome.
- Published in:
- Clinical Genetics, 2024, v. 105, n. 5, p. 584, doi. 10.1111/cge.14514
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- Publication type:
- Article
Variants of LRP2, encoding a multifunctional cell‐surface endocytic receptor, associated with hearing loss and retinal dystrophy.
- Published in:
- Clinical Genetics, 2023, v. 103, n. 6, p. 699, doi. 10.1111/cge.14312
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- Publication type:
- Article
Vestibular phenotype‐genotype correlation in a cohort of 90 patients with Usher syndrome.
- Published in:
- Clinical Genetics, 2021, v. 99, n. 2, p. 226, doi. 10.1111/cge.13868
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- Publication type:
- Article
Glial processes, identified through their glial-specific 130 kD surface glycoprotein, are juxtaposed to sites of neurogenesis in the leech germinal plate.
- Published in:
- Glia, 1989, v. 2, n. 6, p. 446, doi. 10.1002/glia.440020607
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- Publication type:
- Article
Characterization of rare spindle and root cell transcriptional profiles in the stria vascularis of the adult mouse cochlea.
- Published in:
- Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-75238-8
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- Publication type:
- Article
The phenotypic landscape of a Tbc1d24 mutant mouse includes convulsive seizures resembling human early infantile epileptic encephalopathy.
- Published in:
- Human Molecular Genetics, 2019, v. 28, n. 9, p. 1530, doi. 10.1093/hmg/ddy445
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- Publication type:
- Article
TGF-β uncouples glycolysis and inflammation in macrophages and controls survival during sepsis.
- Published in:
- Science Signaling, 2023, v. 16, n. 797, p. 1, doi. 10.1126/scisignal.ade0385
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- Publication type:
- Article
Single-Cell RNA-Seq of Cisplatin-Treated Adult Stria Vascularis Identifies Cell Type-Specific Regulatory Networks and Novel Therapeutic Gene Targets.
- Published in:
- Frontiers in Molecular Neuroscience, 2021, v. 14, p. 1, doi. 10.3389/fnmol.2021.718241
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- Publication type:
- Article
Corrigendum: Characterizing Adult Cochlear Supporting Cell Transcriptional Diversity Using Single-Cell RNA-Seq: Validation in the Adult Mouse and Translational Implications for the Adult Human Cochlea.
- Published in:
- 2021
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- Publication type:
- Correction Notice
Characterizing Adult Cochlear Supporting Cell Transcriptional Diversity Using Single-Cell RNA-Seq: Validation in the Adult Mouse and Translational Implications for the Adult Human Cochlea.
- Published in:
- Frontiers in Molecular Neuroscience, 2020, v. 13, p. 1, doi. 10.3389/fnmol.2020.00013
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- Publication type:
- Article
Single Cell and Single Nucleus RNA-Seq Reveal Cellular Heterogeneity and Homeostatic Regulatory Networks in Adult Mouse Stria Vascularis.
- Published in:
- Frontiers in Molecular Neuroscience, 2019, v. 12, p. 1, doi. 10.3389/fnmol.2019.00316
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- Publication type:
- Article
Noncoding Microdeletion in Mouse Hgf Disrupts Neural Crest Migration into the Stria Vascularis, Reduces the Endocochlear Potential, and Suggests the Neuropathology for Human Nonsyndromic Deafness DFNB39.
- Published in:
- Journal of Neuroscience, 2020, v. 40, n. 15, p. 2976, doi. 10.1523/JNEUROSCI.2278-19.2020
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- Publication type:
- Article
A comparative analysis of library prep approaches for sequencing low input translatome samples.
- Published in:
- BMC Genomics, 2018, v. 19, n. 1, p. 1, doi. 10.1186/s12864-018-5066-2
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- Publication type:
- Article
Global genetic insight contributed by consanguineous Pakistani families segregating hearing loss.
- Published in:
- Human Mutation, 2019, v. 40, n. 1, p. 53, doi. 10.1002/humu.23666
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- Publication type:
- Article
Mutational spectrum of MYO15A: the large N-terminal extension of myosin XVA is required for hearing.
- Published in:
- Human Mutation, 2007, v. 28, n. 10, p. 1014, doi. 10.1002/humu.20556
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- Publication type:
- Article
Mutation of a transcription factor, TFCP2L3, causes progressive autosomal dominant hearing loss, DFNA28.
- Published in:
- Human Molecular Genetics, 2002, v. 11, n. 23, p. 2877, doi. 10.1093/hmg/11.23.2877
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- Publication type:
- Article
Deafness DFNB128 Associated with a Recessive Variant of Human MAP3K1 Recapitulates Hearing Loss of Map3k1 -Deficient Mice.
- Published in:
- Genes, 2024, v. 15, n. 7, p. 845, doi. 10.3390/genes15070845
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- Publication type:
- Article
Mouse Models of Human Pathogenic Variants of TBC1D24 Associated with Non-Syndromic Deafness DFNB86 and DFNA65 and Syndromes Involving Deafness.
- Published in:
- Genes, 2020, v. 11, n. 10, p. 1122, doi. 10.3390/genes11101122
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- Publication type:
- Article
Cell-Specific Transcriptional Responses to Heat Shock in the Mouse Utricle Epithelium.
- Published in:
- Frontiers in Cellular Neuroscience, 2020, v. 14, p. 1, doi. 10.3389/fncel.2020.00123
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- Publication type:
- Article
A novel nonsense mutation (Q57X) of GJB2 in a deaf individual who is a compound heterozygote for the 30delG allele.
- Published in:
- Human Mutation, 1999, v. 13, n. 5, p. 414, doi. 10.1002/(SICI)1098-1004(1999)13:5<414::AID-HUMU16>3.0.CO;2-8
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- Publication type:
- Article
A novel nonsense mutation (Q57X) of GJB2 in a deaf individual who is a compound heterozygote for the 30delG allele.
- Published in:
- Human Mutation, 1999, v. 13, n. 3, p. 259, doi. 10.1002/(SICI)1098-1004(1999)13:3<259::AID-HUMU20>3.0.CO;2-I
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- Publication type:
- Article
Neurotrophin signaling is a central mechanism of salivary dysfunction after irradiation that disrupts myoepithelial cells.
- Published in:
- NPJ Regenerative Medicine, 2023, v. 8, n. 1, p. 1, doi. 10.1038/s41536-023-00290-7
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- Publication type:
- Article
Characterization of a new full length TMPRSS3 isoform and identification of mutant alleles responsible for nonsyndromic recessive deafness in Newfoundland and Pakistan.
- Published in:
- BMC Medical Genetics, 2004, v. 5, p. 1, doi. 10.1186/1471-2350-5-24
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- Publication type:
- Article