List of works - Ignacio del Castillo

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

scientific article

A deletion involving the connexin 30 gene in nonsyndromic hearing impairment

scientific article (publication date: 24 January 2002)

GJB2 mutations and degree of hearing loss: a multicenter study

scientific article

Prevalence and evolutionary origins of the del(GJB6-D13S1830) mutation in the DFNB1 locus in hearing-impaired subjects: a multicenter study

scientific article

Mutation in TRMU related to transfer RNA modification modulates the phenotypic expression of the deafness-associated mitochondrial 12S ribosomal RNA mutations

scientific article

Auditory neuropathy in patients carrying mutations in the otoferlin gene (OTOF).

scientific article published in December 2003

A genotype-phenotype correlation for GJB2 (connexin 26) deafness

scientific article

A multicenter study on the prevalence and spectrum of mutations in the otoferlin gene (OTOF) in subjects with nonsyndromic hearing impairment and auditory neuropathy

scientific article

X chromosome-linked Kallmann syndrome: stop mutations validate the candidate gene

scientific article published on September 1, 1992

Q829X, a novel mutation in the gene encoding otoferlin (OTOF), is frequently found in Spanish patients with prelingual non-syndromic hearing loss.

scientific article

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

scientific article

Nonsense mutations in SMPX, encoding a protein responsive to physical force, result in X-chromosomal hearing loss

scientific article

Structure of the X-linked Kallmann syndrome gene and its homologous pseudogene on the Y chromosome

scientific article published on December 1, 1992

High prevalence of theW24X mutation in the gene encoding connexin-26 (GJB2) in Spanish Romani (gypsies) with autosomal recessive non-syndromic hearing loss

article

An unusual mechanism for resistance to the antibiotic coumermycin A1

scientific article published on October 1, 1991

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

scientific article published on 7 June 2011

The DFNB1 subtype of autosomal recessive non-syndromic hearing impairment

scientific article published on June 1, 2011

A novel KCNQ4 pore-region mutation (p.G296S) causes deafness by impairing cell-surface channel expression.

scientific article published on 21 November 2007

A novel DFNB1 deletion allele supports the existence of a distant cis-regulatory region that controls GJB2 and GJB6 expression.

scientific article

GJB2: the spectrum of deafness-causing allele variants and their phenotype.

scientific article

Mutations of the gene encoding otogelin are a cause of autosomal-recessive nonsyndromic moderate hearing impairment

scientific article

Abnormal cochlear potentials from deaf patients with mutations in the otoferlin gene

scientific article

A mutation in CCDC50, a gene encoding an effector of epidermal growth factor-mediated cell signaling, causes progressive hearing loss

scientific article published in June 2007

Phenotypic variability of patients homozygous for the GJB2 mutation 35delG cannot be explained by the influence of one major modifier gene

scientific article

Tryptophan-rich basic protein (WRB) mediates insertion of the tail-anchored protein otoferlin and is required for hair cell exocytosis and hearing

scientific article published on 25 July 2016

Novel mutation in the gene encoding the GATA3 transcription factor in a Spanish familial case of hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome with female genital tract malformations

article

Characterization of the Chicken and Quail Homologues of the Human Gene Responsible for the X-Linked Kallmann Syndrome

article

Progressive hearing loss and vestibular dysfunction caused by a homozygous nonsense mutation in CLIC5

scientific article

A novel locus for non-syndromic sensorineural deafness (DFN6) maps to chromosome Xp22.

scientific article published in September 1996

A novel mutation in the gene encoding TIMM8a, a component of the mitochondrial protein translocase complexes, in a Spanish familial case of deafness-dystonia (Mohr–Tranebjaerg) syndrome

article

DFNB1 Non-syndromic Hearing Impairment: Diversity of Mutations and Associated Phenotypes

scientific article published on 22 December 2017

A novel missense mutation in the ESRRB gene causes DFNB35 hearing loss in a Tunisian family

scientific article published on July 13, 2011

A de novo missense mutation in the gene encoding the SOX10 transcription factor in a Spanish sporadic case of Waardenburg syndrome type IV

article

Audibility, speech perception and processing of temporal cues in ribbon synaptic disorders due to OTOF mutations

scientific article published on 15 July 2015

Deafness locus DFNB16 is located on chromosome 15q13-q21 within a 5-cM interval flanked by markers D15S994 and D15S132

scientific article

A novel splice-site mutation in the GJB2 gene causing mild postlingual hearing impairment

scientific article (publication date: 2013)

Hypothesizing an ancient Greek origin of the GJB2 35delG mutation: can science meet history?

scientific article published in April 2010

Genetics of isolated auditory neuropathies

scientific article published on January 1, 2012

Stickler and branchio-oto-renal syndromes in a patient with mutations in EYA1 and COL2A1 genes

scientific article published on 29 December 2007

Isolation and characterization of the gene responsible for the X chromosome-linked Kallmann syndrome

scientific article published on January 1994

De novo mutation in the gene encoding connexin-26 (GJB2) in a sporadic case of keratitis-ichthyosis-deafness (KID) syndrome

article

A novel locus for autosomal dominant nonsyndromic hearing loss (DFNA44) maps to chromosome 3q28-29

scientific article (publication date: 2003)

Genetic and phenotypic heterogeneity in two novel cases of Waardenburg syndrome type IV

scientific article published on 01 October 2009

Haplogroup analysis supports a pathogenic role for the 7510T>C mutation of mitochondrial tRNA(Ser(UCN)) in sensorineural hearing loss

scientific article published on 17 November 2007

DFNA49, a novel locus for autosomal dominant non-syndromic hearing loss, maps proximal to DFNA7/DFNM1 region on chromosome 1q21-q23.

scientific article

Similar phenotypes caused by mutations in OTOG and OTOGL.

scientific article

A Spanish sporadic case of deafness-dystonia (Mohr-Tranebjaerg) syndrome with a novel mutation in the gene encoding TIMM8a, a component of the mitochondrial protein translocase complexes.

scientific article published on 25 October 2008

Identification of a SNP in a regulatory region of GJB2 associated with idiopathic nonsyndromic autosomal recessive hearing loss in a multicenter study

scientific article published in June 2013

MPZL2, Encoding the Epithelial Junctional Protein Myelin Protein Zero-like 2, Is Essential for Hearing in Man and Mouse

scientific article published on 28 June 2018

Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel

scientific article published on 04 June 2019

List of works by Ignacio del Castillo

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

A deletion involving the connexin 30 gene in nonsyndromic hearing impairment

GJB2 mutations and degree of hearing loss: a multicenter study

Prevalence and evolutionary origins of the del(GJB6-D13S1830) mutation in the DFNB1 locus in hearing-impaired subjects: a multicenter study

Mutation in TRMU related to transfer RNA modification modulates the phenotypic expression of the deafness-associated mitochondrial 12S ribosomal RNA mutations

Auditory neuropathy in patients carrying mutations in the otoferlin gene (OTOF).

A genotype-phenotype correlation for GJB2 (connexin 26) deafness

A multicenter study on the prevalence and spectrum of mutations in the otoferlin gene (OTOF) in subjects with nonsyndromic hearing impairment and auditory neuropathy

X chromosome-linked Kallmann syndrome: stop mutations validate the candidate gene

Q829X, a novel mutation in the gene encoding otoferlin (OTOF), is frequently found in Spanish patients with prelingual non-syndromic hearing loss.

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

Nonsense mutations in SMPX, encoding a protein responsive to physical force, result in X-chromosomal hearing loss

Structure of the X-linked Kallmann syndrome gene and its homologous pseudogene on the Y chromosome

High prevalence of theW24X mutation in the gene encoding connexin-26 (GJB2) in Spanish Romani (gypsies) with autosomal recessive non-syndromic hearing loss

An unusual mechanism for resistance to the antibiotic coumermycin A1

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

The DFNB1 subtype of autosomal recessive non-syndromic hearing impairment

A novel KCNQ4 pore-region mutation (p.G296S) causes deafness by impairing cell-surface channel expression.

A novel DFNB1 deletion allele supports the existence of a distant cis-regulatory region that controls GJB2 and GJB6 expression.

GJB2: the spectrum of deafness-causing allele variants and their phenotype.

Mutations of the gene encoding otogelin are a cause of autosomal-recessive nonsyndromic moderate hearing impairment

Abnormal cochlear potentials from deaf patients with mutations in the otoferlin gene

A mutation in CCDC50, a gene encoding an effector of epidermal growth factor-mediated cell signaling, causes progressive hearing loss

Phenotypic variability of patients homozygous for the GJB2 mutation 35delG cannot be explained by the influence of one major modifier gene

Tryptophan-rich basic protein (WRB) mediates insertion of the tail-anchored protein otoferlin and is required for hair cell exocytosis and hearing

Novel mutation in the gene encoding the GATA3 transcription factor in a Spanish familial case of hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome with female genital tract malformations

Characterization of the Chicken and Quail Homologues of the Human Gene Responsible for the X-Linked Kallmann Syndrome

Progressive hearing loss and vestibular dysfunction caused by a homozygous nonsense mutation in CLIC5

A novel locus for non-syndromic sensorineural deafness (DFN6) maps to chromosome Xp22.

A novel mutation in the gene encoding TIMM8a, a component of the mitochondrial protein translocase complexes, in a Spanish familial case of deafness-dystonia (Mohr–Tranebjaerg) syndrome

DFNB1 Non-syndromic Hearing Impairment: Diversity of Mutations and Associated Phenotypes

A novel missense mutation in the ESRRB gene causes DFNB35 hearing loss in a Tunisian family

A de novo missense mutation in the gene encoding the SOX10 transcription factor in a Spanish sporadic case of Waardenburg syndrome type IV

Audibility, speech perception and processing of temporal cues in ribbon synaptic disorders due to OTOF mutations

Deafness locus DFNB16 is located on chromosome 15q13-q21 within a 5-cM interval flanked by markers D15S994 and D15S132

A novel splice-site mutation in the GJB2 gene causing mild postlingual hearing impairment

Hypothesizing an ancient Greek origin of the GJB2 35delG mutation: can science meet history?

Genetics of isolated auditory neuropathies

Stickler and branchio-oto-renal syndromes in a patient with mutations in EYA1 and COL2A1 genes

Isolation and characterization of the gene responsible for the X chromosome-linked Kallmann syndrome

De novo mutation in the gene encoding connexin-26 (GJB2) in a sporadic case of keratitis-ichthyosis-deafness (KID) syndrome

A novel locus for autosomal dominant nonsyndromic hearing loss (DFNA44) maps to chromosome 3q28-29

Genetic and phenotypic heterogeneity in two novel cases of Waardenburg syndrome type IV

Haplogroup analysis supports a pathogenic role for the 7510T>C mutation of mitochondrial tRNA(Ser(UCN)) in sensorineural hearing loss

DFNA49, a novel locus for autosomal dominant non-syndromic hearing loss, maps proximal to DFNA7/DFNM1 region on chromosome 1q21-q23.

Similar phenotypes caused by mutations in OTOG and OTOGL.

A Spanish sporadic case of deafness-dystonia (Mohr-Tranebjaerg) syndrome with a novel mutation in the gene encoding TIMM8a, a component of the mitochondrial protein translocase complexes.

Identification of a SNP in a regulatory region of GJB2 associated with idiopathic nonsyndromic autosomal recessive hearing loss in a multicenter study

MPZL2, Encoding the Epithelial Junctional Protein Myelin Protein Zero-like 2, Is Essential for Hearing in Man and Mouse

Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel