Lista de obras - Aziz El-Amraoui - Dominio Público Uruguay

A biallelic variant in CLRN2 causes non-syndromic hearing loss in humans

scientific article published in 2021

A novel mode of off-frequency hearing as a result of defective outer hair cells hair bundles unveiled by Nherf1-/- mice

An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients

artículo científico publicado en 2016

An unusually powerful mode of low-frequency sound interference due to defective hair bundles of the auditory outer hair cells

artículo científico publicado en 2014

Apport des modèles animaux a l'étude des retinites pigmentaires

Audition: Hearing and Deafness

CIB2, defective in isolated deafness, is key for auditory hair cell mechanotransduction and survival

artículo científico publicado en 2017

Cadherin defects in inherited human diseases

artículo científico

Cadherins as targets for genetic diseases

artículo científico publicado en 2010

Clarin-1 gene transfer rescues auditory synaptopathy in model of Usher syndrome

article

Clarin-2 is essential for hearing by maintaining stereocilia integrity and function

scientific article published on 26 August 2019

Class III myosins shape the auditory hair bundles by limiting microvilli and stereocilia growth

artículo científico publicado en 2016

Cloning of the genes encoding two murine and human cochlear unconventional type I myosins

artículo científico publicado en 1997

Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis

artículo científico publicado en 2011

Cone degeneration is triggered by the absence of USH1 proteins but prevented by antioxidant treatments

artículo científico publicado en 2018

Conformational switch of harmonin, a submembrane scaffold protein of the hair cell mechanoelectrical transduction machinery

artículo científico publicado en 2017

Defects in whirlin, a PDZ domain molecule involved in stereocilia elongation, cause deafness in the whirler mouse and families with DFNB31

scientific journal article

Differential distribution of harmonin isoforms and their possible role in Usher-1 protein complexes in mammalian photoreceptor cells

scientific journal article

Embryology of the pituitary gland.

artículo científico publicado en 1995

Expression of myosin VIIA during mouse embryogenesis.

artículo científico publicado en 1997

Eya1 expression in the developing ear and kidney: towards the understanding of the pathogenesis of Branchio-Oto-Renal (BOR) syndrome

artículo científico publicado en 1998

Human Usher 1B/mouse shaker-1: the retinal phenotype discrepancy explained by the presence/absence of myosin VIIA in the photoreceptor cells

artículo científico publicado en 1996

Inner Ear Gene Therapies Take Off: Current Promises and Future Challenges

scientific article published on 21 July 2020

Interactions between adenohypophyseal, hypothalamic and nasal presumptive territories during early neurulation process ⬇️

artículo científico publicado el 1 de mayo de 1995

Interactions in the network of Usher syndrome type 1 proteins

scientific journal article

Involvement of the Rab27 binding protein Slac2c/MyRIP in insulin exocytosis

artículo científico publicado en 2003

KCNQ4, a K+ channel mutated in a form of dominant deafness, is expressed in the inner ear and the central auditory pathway.

artículo científico publicado en 2000

KCNQ4, a novel potassium channel expressed in sensory outer hair cells, is mutated in dominant deafness

artículo científico publicado en 1999

Localization of Usher 1 proteins to the photoreceptor calyceal processes, which are absent from mice

artículo científico publicado en 2012

MyRIP, a novel Rab effector, enables myosin VIIa recruitment to retinal melanosomes

artículo científico publicado en 2002

Myosin VII

Myosin VIIa, harmonin and cadherin 23, three Usher I gene products that cooperate to shape the sensory hair cell bundle

artículo científico publicado en 2002

Myosin XVa and whirlin, two deafness gene products required for hair bundle growth, are located at the stereocilia tips and interact directly

scientific journal article

Novel gene function revealed by mouse mutagenesis screens for models of age-related disease.

artículo científico publicado en 2016

Otogelin: a glycoprotein specific to the acellular membranes of the inner ear

artículo científico publicado en 1997

PHR1, an integral membrane protein of the inner ear sensory cells, directly interacts with myosin 1c and myosin VIIa

scientific journal article

Rab27A and its effector MyRIP link secretory granules to F-actin and control their motion towards release sites

artículo científico publicado en 2003

Shroom2, a myosin-VIIa- and actin-binding protein, directly interacts with ZO-1 at tight junctions

scientific journal article

Spatiotemporal expression of otogelin in the developing and adult mouse inner ear.

artículo científico publicado en 2001

Spectrin βV adaptive mutations and changes in subcellular location correlate with emergence of hair cell electromotility in mammalians.

artículo científico publicado en 2017

Stem cell therapy in the inner ear: recent achievements and prospects

artículo científico publicado en 2010

Successful gene therapy in the RPGRIP1-deficient dog: a large model of cone-rod dystrophy

artículo científico publicado en 2013

Targeted disruption of otog results in deafness and severe imbalance

scientific journal article

The auditory hair cell ribbon synapse: from assembly to function ⬇️

artículo científico publicado el 1 de enero de 2012

The giant spectrin βV couples the molecular motors to phototransduction and Usher syndrome type I proteins along their trafficking route

artículo científico publicado en 2013

The retinal phenotype of Usher syndrome: pathophysiological insights from animal models

artículo científico

Unconventional myosin VIIA is a novel A-kinase-anchoring protein

artículo científico publicado en 2000

Unconventional myosin VIIa and vezatin, two proteins crucial for Listeria entry into epithelial cells

artículo científico publicado en 2004

Usher syndrome (sensorineural deafness and retinitis pigmentosa): pathogenesis, molecular diagnosis and therapeutic approaches

artículo científico publicado en 2012

Usher syndrome type 1-associated cadherins shape the photoreceptor outer segment.

artículo científico publicado en 2017

Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin

artículo científico publicado en 2003

Usherin, the defective protein in Usher syndrome type IIA, is likely to be a component of interstereocilia ankle links in the inner ear sensory cells

scientific journal article

Variants in CIB2 cause DFNB48 and not USH1J.

artículo científico publicado en 2017

Vezatin, a protein associated to adherens junctions, is required for mouse blastocyst morphogenesis

scientific journal article

alphaII-betaV spectrin bridges the plasma membrane and cortical lattice in the lateral wall of the auditory outer hair cells

scientific journal article

Lista de obras de Aziz El-Amraoui

A biallelic variant in CLRN2 causes non-syndromic hearing loss in humans

A novel mode of off-frequency hearing as a result of defective outer hair cells hair bundles unveiled by Nherf1-/- mice

An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients

An unusually powerful mode of low-frequency sound interference due to defective hair bundles of the auditory outer hair cells

Apport des modèles animaux a l'étude des retinites pigmentaires

Audition: Hearing and Deafness

CIB2, defective in isolated deafness, is key for auditory hair cell mechanotransduction and survival

Cadherin defects in inherited human diseases

Cadherins as targets for genetic diseases

Clarin-1 gene transfer rescues auditory synaptopathy in model of Usher syndrome

Clarin-2 is essential for hearing by maintaining stereocilia integrity and function

Class III myosins shape the auditory hair bundles by limiting microvilli and stereocilia growth

Cloning of the genes encoding two murine and human cochlear unconventional type I myosins

Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis

Cone degeneration is triggered by the absence of USH1 proteins but prevented by antioxidant treatments

Conformational switch of harmonin, a submembrane scaffold protein of the hair cell mechanoelectrical transduction machinery

Defects in whirlin, a PDZ domain molecule involved in stereocilia elongation, cause deafness in the whirler mouse and families with DFNB31

Differential distribution of harmonin isoforms and their possible role in Usher-1 protein complexes in mammalian photoreceptor cells

Embryology of the pituitary gland.

Expression of myosin VIIA during mouse embryogenesis.

Eya1 expression in the developing ear and kidney: towards the understanding of the pathogenesis of Branchio-Oto-Renal (BOR) syndrome

Human Usher 1B/mouse shaker-1: the retinal phenotype discrepancy explained by the presence/absence of myosin VIIA in the photoreceptor cells

Inner Ear Gene Therapies Take Off: Current Promises and Future Challenges

Interactions between adenohypophyseal, hypothalamic and nasal presumptive territories during early neurulation process ⬇️

Interactions in the network of Usher syndrome type 1 proteins

Involvement of the Rab27 binding protein Slac2c/MyRIP in insulin exocytosis

KCNQ4, a K+ channel mutated in a form of dominant deafness, is expressed in the inner ear and the central auditory pathway.

KCNQ4, a novel potassium channel expressed in sensory outer hair cells, is mutated in dominant deafness

Localization of Usher 1 proteins to the photoreceptor calyceal processes, which are absent from mice

MyRIP, a novel Rab effector, enables myosin VIIa recruitment to retinal melanosomes

Myosin VII

Myosin VIIa, harmonin and cadherin 23, three Usher I gene products that cooperate to shape the sensory hair cell bundle

Myosin XVa and whirlin, two deafness gene products required for hair bundle growth, are located at the stereocilia tips and interact directly

Novel gene function revealed by mouse mutagenesis screens for models of age-related disease.

Otogelin: a glycoprotein specific to the acellular membranes of the inner ear

PHR1, an integral membrane protein of the inner ear sensory cells, directly interacts with myosin 1c and myosin VIIa

Rab27A and its effector MyRIP link secretory granules to F-actin and control their motion towards release sites

Shroom2, a myosin-VIIa- and actin-binding protein, directly interacts with ZO-1 at tight junctions

Spatiotemporal expression of otogelin in the developing and adult mouse inner ear.

Spectrin βV adaptive mutations and changes in subcellular location correlate with emergence of hair cell electromotility in mammalians.

Stem cell therapy in the inner ear: recent achievements and prospects

Successful gene therapy in the RPGRIP1-deficient dog: a large model of cone-rod dystrophy

Targeted disruption of otog results in deafness and severe imbalance

The auditory hair cell ribbon synapse: from assembly to function ⬇️

The giant spectrin βV couples the molecular motors to phototransduction and Usher syndrome type I proteins along their trafficking route

The retinal phenotype of Usher syndrome: pathophysiological insights from animal models

Unconventional myosin VIIA is a novel A-kinase-anchoring protein

Unconventional myosin VIIa and vezatin, two proteins crucial for Listeria entry into epithelial cells

Usher syndrome (sensorineural deafness and retinitis pigmentosa): pathogenesis, molecular diagnosis and therapeutic approaches

Usher syndrome type 1-associated cadherins shape the photoreceptor outer segment.

Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin

Usherin, the defective protein in Usher syndrome type IIA, is likely to be a component of interstereocilia ankle links in the inner ear sensory cells

Variants in CIB2 cause DFNB48 and not USH1J.

Vezatin, a protein associated to adherens junctions, is required for mouse blastocyst morphogenesis

alphaII-betaV spectrin bridges the plasma membrane and cortical lattice in the lateral wall of the auditory outer hair cells