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Genetic etiology of non-syndromic hearing loss in Europe

Human genetics, 2022-04, Vol.141 (3-4), p.683-696

2022

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Mutations in the seed region of human miR-96 are responsible for nonsyndromic progressive hearing loss

Nature genetics, 2009-05, Vol.41 (5), p.609-613

2009

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Insights into the pathophysiology of DFNA10 hearing loss associated with novel EYA4 variants

Scientific reports, 2020-04, Vol.10 (1), p.6213-6213, Article 6213

2020

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Insights into the pathophysiology of DFNA44 hearing loss associated with CCDC50 frameshift variants

Disease models & mechanisms, 2023-08, Vol.16 (8)

2023

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CRISPR/Cas9-Mediated Allele-Specific Disruption of a Dominant COL6A1 Pathogenic Variant Improves Collagen VI Network in Patient Fibroblasts

International journal of molecular sciences, 2022-04, Vol.23 (8), p.4410

2022

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Cingulin regulates hair cell cuticular plate morphology and is required for hearing in human and mouse

EMBO molecular medicine, 2023-11, Vol.15 (11), p.e17611-n/a

2023

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Pathological mechanisms and candidate therapeutic approaches in the hearing loss of mice carrying human MIR96 mutations

Genome medicine, 2024-10, Vol.16 (1), p.121-20, Article 121

2024

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Selective miRNA inhibition in CD8 + cytotoxic T lymphocytes enhances HIV-1 specific cytotoxic responses

Frontiers in immunology, 2022-09, Vol.13, p.998368

2022

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Novel mutations in the KCNJ10 gene associated to a distinctive ataxia, sensorineural hearing loss and spasticity clinical phenotype

Neurogenetics, 2020-04, Vol.21 (2), p.135-143

2020

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Parental Mosaicism in PAX6 Causes Intra-Familial Variability: Implications for Genetic Counseling of Congenital Aniridia and Microphthalmia

Frontiers in genetics, 2018-10, Vol.9, p.479-479

2018

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Specific correction of pyruvate kinase deficiency-causing point mutations by CRISPR/Cas9 and single-stranded oligodeoxynucleotides

Frontiers in genome editing, 2023-04, Vol.5, p.1104666-1104666

2023

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Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing loss

Genetics in medicine, 2021-11, Vol.23 (11), p.2208-2212

2021

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A Novel Truncating Mutation in HOMER2 Causes Nonsyndromic Progressive DFNA68 Hearing Loss in a Spanish Family

Genes, 2021-03, Vol.12 (3), p.411

2021

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Novel Cases of Non-Syndromic Hearing Impairment Caused by Pathogenic Variants in Genes Encoding Mitochondrial Aminoacyl-tRNA Synthetases

Genes, 2024-07, Vol.15 (7), p.951

2024

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Therapeutic Potential of EWSR1–FLI1 Inactivation by CRISPR/Cas9 in Ewing Sarcoma

Cancers, 2021-07, Vol.13 (15), p.3783

2021

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Three deaf mice: mouse models for TECTA-based human hereditary deafness reveal domain-specific structural phenotypes in the tectorial membrane

Human molecular genetics, 2014-05, Vol.23 (10), p.2551-2568

2014

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Selective miRNA Modulation Fails to Activate HIV Replication in In Vitro Latency Models

Molecular therapy. Nucleic acids, 2019-09, Vol.17, p.323-336

2019

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In vivo and in vitro effects of two novel gamma-actin (ACTG1) mutations that cause DFNA20/26 hearing impairment

Human molecular genetics, 2009-08, Vol.18 (16), p.3075-3089

2009

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Novel Pathogenic Variants in the Gene Encoding Stereocilin ( STRC ) Causing Non-Syndromic Moderate Hearing Loss in Spanish and Argentinean Subjects

Biomedicines, 2023-10, Vol.11 (11), p.2943

2023

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Expression of Alt a 1 allergen from Alternaria alternata in the yeast Yarrowia lipolytica

FEMS microbiology letters, 2012-08, Vol.333 (2), p.121-128

2012

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Three New Mutations and Mild, Asymmetrical Phenotype in the Highly Distinctive LAMM Syndrome: A Report of Eight Further Cases

Genes, 2019-07, Vol.10 (7), p.529

2019

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Proteomic analysis reveals metabolic changes during yeast to hypha transition in Yarrowia lipolytica

Journal of mass spectrometry., 2007-11, Vol.42 (11), p.1453-1462

2007

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Genetic etiology of non-syndromic hearing loss in Europe

Mutations in the seed region of human miR-96 are responsible for nonsyndromic progressive hearing loss

Insights into the pathophysiology of DFNA10 hearing loss associated with novel EYA4 variants

Insights into the pathophysiology of DFNA44 hearing loss associated with CCDC50 frameshift variants

CRISPR/Cas9-Mediated Allele-Specific Disruption of a Dominant COL6A1 Pathogenic Variant Improves Collagen VI Network in Patient Fibroblasts

Cingulin regulates hair cell cuticular plate morphology and is required for hearing in human and mouse

Pathological mechanisms and candidate therapeutic approaches in the hearing loss of mice carrying human MIR96 mutations

Selective miRNA inhibition in CD8 + cytotoxic T lymphocytes enhances HIV-1 specific cytotoxic responses

Novel mutations in the KCNJ10 gene associated to a distinctive ataxia, sensorineural hearing loss and spasticity clinical phenotype

Parental Mosaicism in PAX6 Causes Intra-Familial Variability: Implications for Genetic Counseling of Congenital Aniridia and Microphthalmia

Specific correction of pyruvate kinase deficiency-causing point mutations by CRISPR/Cas9 and single-stranded oligodeoxynucleotides

Primary T-cell immunodeficiency with functional revertant somatic mosaicism in CD247

Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing loss

A Novel Truncating Mutation in HOMER2 Causes Nonsyndromic Progressive DFNA68 Hearing Loss in a Spanish Family

Novel Cases of Non-Syndromic Hearing Impairment Caused by Pathogenic Variants in Genes Encoding Mitochondrial Aminoacyl-tRNA Synthetases

Therapeutic Potential of EWSR1–FLI1 Inactivation by CRISPR/Cas9 in Ewing Sarcoma

Three deaf mice: mouse models for TECTA-based human hereditary deafness reveal domain-specific structural phenotypes in the tectorial membrane

Selective miRNA Modulation Fails to Activate HIV Replication in In Vitro Latency Models

In vivo and in vitro effects of two novel gamma-actin (ACTG1) mutations that cause DFNA20/26 hearing impairment

Novel Pathogenic Variants in the Gene Encoding Stereocilin ( STRC ) Causing Non-Syndromic Moderate Hearing Loss in Spanish and Argentinean Subjects

Expression of Alt a 1 allergen from Alternaria alternata in the yeast Yarrowia lipolytica

Three New Mutations and Mild, Asymmetrical Phenotype in the Highly Distinctive LAMM Syndrome: A Report of Eight Further Cases

Proteomic analysis reveals metabolic changes during yeast to hypha transition in Yarrowia lipolytica

CSVS, a crowdsourcing database of the Spanish population genetic variability

DFNA8/12 caused by TECTA mutations is the most identified subtype of nonsyndromic autosomal dominant hearing loss

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