Lista de obras -

A null mutation of mouse Kcna10 causes significant vestibular and mild hearing dysfunction.

artículo científico publicado en 2013

Actin at stereocilia tips is regulated by mechanotransduction and ADF/cofilin

artículo científico publicado en 2020

Actin in hair cells and hearing loss ⬇️

artículo científico publicado el 13 de diciembre de 2011

Actin-bundling protein TRIOBP forms resilient rootlets of hair cell stereocilia essential for hearing

artículo científico publicado en 2010

Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48.

artículo científico publicado en 2012

Auditory mechanotransduction in the absence of functional myosin-XVa.

artículo científico publicado en 2006

Autosomal-Recessive Hearing Impairment Due to Rare Missense Variants within S1PR2

artículo científico publicado en 2016

CDC14A Phosphatase is Essential for Hearing and Male Fertility in Mouse and Human.

artículo científico publicado en 2017

Claudin 14 knockout mice, a model for autosomal recessive deafness DFNB29, are deaf due to cochlear hair cell degeneration

artículo científico publicado en 2003

Deafness and stria vascularis defects in S1P2 receptor-null mice.

artículo científico publicado en 2007

Expression of prestin, a membrane motor protein, in the mammalian auditory and vestibular periphery.

artículo científico publicado en 2003

Functional null mutations of MSRB3 encoding methionine sulfoxide reductase are associated with human deafness DFNB74

artículo científico publicado en 2010

Gamma-actin is required for cytoskeletal maintenance but not development

artículo científico publicado en 2009

Gene expression profile of the mouse organ of Corti at the onset of hearing

artículo científico publicado en 2004

Genetic insights into the morphogenesis of inner ear hair cells.

artículo científico publicado en 2004

Harnessing molecular motors for nanoscale pulldown in live cells.

artículo científico publicado en 2016

ILDR1 null mice, a model of human deafness DFNB42, show structural aberrations of tricellular tight junctions and degeneration of auditory hair cells

artículo científico publicado en 2014

Molecular basis of DFNB73: mutations of BSND can cause nonsyndromic deafness or Bartter syndrome.

artículo científico publicado en 2009

Molecular remodeling of tip links underlies mechanosensory regeneration in auditory hair cells

artículo científico publicado en 2013

Mouse Models of Human Pathogenic Variants of TBC1D24 Associated with Non-Syndromic Deafness DFNB86 and DFNA65 and Syndromes Involving Deafness

artículo científico publicado en 2020

Mutation spectrum of MYO7A and evaluation of a novel nonsyndromic deafness DFNB2 allele with residual function

artículo científico publicado en 2008

Mutations in Grxcr1 are the basis for inner ear dysfunction in the pirouette mouse

scientific journal article

Mutations in Mcoln3 associated with deafness and pigmentation defects in varitint-waddler (Va) mice

artículo científico publicado en 2002

Mutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humans

artículo científico publicado en 2008

Myosin XVa localizes to the tips of inner ear sensory cell stereocilia and is essential for staircase formation of the hair bundle ⬇️

artículo científico publicado el 10 de noviembre de 2003

Myosins and Hearing

scientific article published on 01 January 2020

PCDH15 is expressed in the neurosensory epithelium of the eye and ear and mutant alleles are responsible for both USH1F and DFNB23 ⬇️

artículo científico publicado el 21 de octubre de 2003

Phenotypic variability of CLDN14 mutations causing DFNB29 hearing loss in the Pakistani population ⬇️

artículo científico publicado el 13 de diciembre de 2012

Recent advances in the understanding of syndromic forms of hearing loss

artículo científico publicado en 2003

Signatures from tissue-specific MPSS libraries identify transcripts preferentially expressed in the mouse inner ear.

artículo científico publicado en 2006

Spatiotemporal pattern and isoforms of cadherin 23 in wild type and waltzer mice during inner ear hair cell development

scientific journal article

Stereocilia: the long and the short of it ⬇️

artículo científico publicado el 1 de noviembre de 2003

TRIOBP-5 sculpts stereocilia rootlets and stiffens supporting cells enabling hearing

artículo científico publicado en 2019

Targeted capture and next-generation sequencing identifies C9orf75, encoding taperin, as the mutated gene in nonsyndromic deafness DFNB79

artículo científico publicado en 2010

The 133-kDa N-terminal domain enables myosin 15 to maintain mechanotransducing stereocilia and is essential for hearing

artículo científico publicado en 2015

The phenotypic landscape of a Tbc1d24 mutant mouse includes convulsive seizures resembling human early infantile epileptic encephalopathy

scientific article published on 01 May 2019

The tip-link antigen, a protein associated with the transduction complex of sensory hair cells, is protocadherin-15

artículo científico publicado en 2006

Tricellulin deficiency affects tight junction architecture and cochlear hair cells.

artículo científico publicado en 2013

Tricellulin is a tight-junction protein necessary for hearing

artículo científico publicado en 2006

Twinfilin 2 regulates actin filament lengths in cochlear stereocilia

artículo científico publicado en 2009

Lista de obras de

A null mutation of mouse Kcna10 causes significant vestibular and mild hearing dysfunction.

Actin at stereocilia tips is regulated by mechanotransduction and ADF/cofilin

Actin in hair cells and hearing loss ⬇️

Actin-bundling protein TRIOBP forms resilient rootlets of hair cell stereocilia essential for hearing

Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48.

Auditory mechanotransduction in the absence of functional myosin-XVa.

Autosomal-Recessive Hearing Impairment Due to Rare Missense Variants within S1PR2

CDC14A Phosphatase is Essential for Hearing and Male Fertility in Mouse and Human.

Claudin 14 knockout mice, a model for autosomal recessive deafness DFNB29, are deaf due to cochlear hair cell degeneration

Deafness and stria vascularis defects in S1P2 receptor-null mice.

Expression of prestin, a membrane motor protein, in the mammalian auditory and vestibular periphery.

Functional null mutations of MSRB3 encoding methionine sulfoxide reductase are associated with human deafness DFNB74

Gamma-actin is required for cytoskeletal maintenance but not development

Gene expression profile of the mouse organ of Corti at the onset of hearing

Genetic insights into the morphogenesis of inner ear hair cells.

Harnessing molecular motors for nanoscale pulldown in live cells.

ILDR1 null mice, a model of human deafness DFNB42, show structural aberrations of tricellular tight junctions and degeneration of auditory hair cells

Molecular basis of DFNB73: mutations of BSND can cause nonsyndromic deafness or Bartter syndrome.

Molecular remodeling of tip links underlies mechanosensory regeneration in auditory hair cells

Mouse Models of Human Pathogenic Variants of TBC1D24 Associated with Non-Syndromic Deafness DFNB86 and DFNA65 and Syndromes Involving Deafness

Mutation spectrum of MYO7A and evaluation of a novel nonsyndromic deafness DFNB2 allele with residual function

Mutations in Grxcr1 are the basis for inner ear dysfunction in the pirouette mouse

Mutations in Mcoln3 associated with deafness and pigmentation defects in varitint-waddler (Va) mice

Mutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humans

Myosin XVa localizes to the tips of inner ear sensory cell stereocilia and is essential for staircase formation of the hair bundle ⬇️

Myosins and Hearing

PCDH15 is expressed in the neurosensory epithelium of the eye and ear and mutant alleles are responsible for both USH1F and DFNB23 ⬇️

Phenotypic variability of CLDN14 mutations causing DFNB29 hearing loss in the Pakistani population ⬇️

Recent advances in the understanding of syndromic forms of hearing loss

Signatures from tissue-specific MPSS libraries identify transcripts preferentially expressed in the mouse inner ear.

Spatiotemporal pattern and isoforms of cadherin 23 in wild type and waltzer mice during inner ear hair cell development

Stereocilia: the long and the short of it ⬇️

TRIOBP-5 sculpts stereocilia rootlets and stiffens supporting cells enabling hearing

Targeted capture and next-generation sequencing identifies C9orf75, encoding taperin, as the mutated gene in nonsyndromic deafness DFNB79

The 133-kDa N-terminal domain enables myosin 15 to maintain mechanotransducing stereocilia and is essential for hearing

The phenotypic landscape of a Tbc1d24 mutant mouse includes convulsive seizures resembling human early infantile epileptic encephalopathy

The tip-link antigen, a protein associated with the transduction complex of sensory hair cells, is protocadherin-15

Tricellulin deficiency affects tight junction architecture and cochlear hair cells.

Tricellulin is a tight-junction protein necessary for hearing

Twinfilin 2 regulates actin filament lengths in cochlear stereocilia