Lista de obras - Karen Avraham - Dominio Público Uruguay

A "Tric" to tighten cell-cell junctions in the cochlea for hearing

artículo científico publicado en 2013

A Myo6 mutation destroys coordination between the myosin heads, revealing new functions of myosin VI in the stereocilia of mammalian inner ear hair cells

artículo científico publicado en 2008

A Myo7a mutation cosegregates with stereocilia defects and low-frequency hearing impairment

scientific journal article

A homozygous AP3D1 missense variant in patients with sensorineural hearing loss as the leading manifestation

scientific article published in 2022

A mouse model for benign paroxysmal positional vertigo with genetic predisposition for displaced otoconia

artículo científico publicado en 2020

A mouse model for human hearing loss DFNB30 due to loss of function of myosin IIIA

scientific journal article

A mutation of PCDH15 among Ashkenazi Jews with the type 1 Usher syndrome

artículo científico publicado en 2003

A novel SLC26A4 (PDS) deafness mutation retained in the endoplasmic reticulum

artículo científico publicado en 2008

A novel deletion involving the connexin-30 gene, del(GJB6-d13s1854), found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 non-syndromic hearing impairment.

artículo científico publicado en 2005

A synonymous variant in MYO15A enriched in the Ashkenazi Jewish population causes autosomal recessive hearing loss due to abnormal splicing

artículo científico publicado en 2021

Advances in genetic diagnostics for hereditary hearing loss

artículo científico

An ENU-induced mutation in AP-2alpha leads to middle ear and ocular defects in Doarad mice

artículo científico publicado en 2004

Ankrd6 is a mammalian functional homolog of Drosophila planar cell polarity gene diego and regulates coordinated cellular orientation in the mouse inner ear.

artículo científico publicado en 2014

Apparent phenotypic anticipation in autosomal dominant connexin 26 deafness

artículo científico publicado en 2014

Atrophic thyroid follicles and inner ear defects reminiscent of cochlear hypothyroidism in Slc26a4-related deafness

artículo científico publicado en 2014

Audiological Manifestations and Features of Connexin 26 Deafness

Balance deficit enhances anxiety and balance training decreases anxiety in vestibular mutant mice

artículo científico publicado en 2014

Beethoven, a mouse model for dominant, progressive hearing loss DFNA36.

artículo científico publicado en 2002

Brn-3c (POU4F3) regulates BDNF and NT-3 promoter activity

artículo científico publicado en 2004

CLRN1 is nonessential in the mouse retina but is required for cochlear hair cell development

artículo científico publicado en 2009

Calcium oxalate stone formation in the inner ear as a result of an Slc26a4 mutation

artículo científico publicado en 2010

Characterization of unconventional MYO6, the human homologue of the gene responsible for deafness in Snell's waltzer mice ⬇️

artículo científico publicado el 1 de agosto de 1997

Chromosomal mapping and phenotypic characterization of hereditary otosclerosis linked to the OTSC4 locus

artículo científico publicado en 2006

Chromosomal organization and transcriptional regulation of human GEM and localization of the human and mouse GEM loci encoding an inducible Ras-like protein

artículo científico publicado en 1995

Clinical Characterization of Genetic Hearing Loss Caused by a Mutation in the POU4F3 Transcription Factor

artículo científico publicado en 2000

Collaborative genomics for human health and cooperation in the Mediterranean region

article

Computational analysis of mRNA expression profiling in the inner ear reveals candidate transcription factors associated with proliferation, differentiation, and deafness.

artículo científico publicado en 2018

Connexin 26 null mice exhibit spiral ganglion degeneration that can be blocked by BDNF gene therapy

artículo científico publicado en 2013

Connexin-associated deafness and speech perception outcome of cochlear implantation

artículo científico publicado en 2006

Connexins in hearing loss: a comprehensive overview

artículo científico publicado en 2005

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

artículo científico publicado en 2019

Cytoplasmic mislocalization of POU3F4 due to novel mutations leads to deafness in humans and mice

artículo científico publicado en 2013

DNA methylation dynamics during embryonic development and postnatal maturation of the mouse auditory sensory epithelium

artículo científico publicado en 2018

Deafness genes in Israel: implications for diagnostics in the clinic

artículo científico publicado en 2009

Down's syndrome: Abnormal neuromuscular junction in tongue of transgenic mice with elevated levels of human Cu/Zn-superoxide dismutase

scientific article published on 01 September 1988

Down's syndrome: morphological remodelling and increased complexity in the neuromuscular junction of transgenic CuZn-superoxide dismutase mice

artículo científico publicado en 1991

Egr2::cre mediated conditional ablation of dicer disrupts histogenesis of mammalian central auditory nuclei

artículo científico publicado en 2012

Emerging complexities of the mouse as a model for human hearing loss

artículo científico publicado en 2022

Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss

scientific article published on 01 November 2018

Expression of manganese superoxide dismutase is not altered in transgenic mice with elevated level of copper-zinc superoxide dismutase

artículo científico publicado en 1993

Five novel loci for inherited hearing loss mapped by SNP-based homozygosity profiles in Palestinian families

artículo científico publicado en 2009

From flies' eyes to our ears: mutations in a human class III myosin cause progressive nonsyndromic hearing loss DFNB30

artículo científico publicado en 2002

Functional characterization of pendrin mutations found in the Israeli and Palestinian populations

artículo científico publicado en 2011

Future Trends and Potential for Treatment of Sensorineural Hearing Loss

GJB2 mutations and degree of hearing loss: a multicenter study

artículo científico publicado en 2005

Genetic Therapies for Hearing Loss: Accomplishments and Remaining Challenges

scientific article published on 03 October 2019

Genetics of Hearing Loss: Syndromic

artículo científico publicado en 2015

Genetics of congenital deafness in the Palestinian population: multiple connexin 26 alleles with shared origins in the Middle East

artículo científico publicado en 2002

Genetics of deafness: recent advances and clinical implications

artículo científico publicado en 2002

Genetics of hearing loss in the Arab population of Northern Israel

article

Genome-wide identification and expression profiling of long non-coding RNAs in auditory and vestibular systems

artículo científico publicado en 2017

Genome-wide, large-scale production of mutant mice by ENU mutagenesis.

artículo científico publicado en 2000

Genomic advances for gene discovery in hereditary hearing loss

artículo científico

Genomic analysis of inherited hearing loss in the Palestinian population

artículo científico publicado en 2020

Genomic duplication and overexpression of TJP2/ZO-2 leads to altered expression of apoptosis genes in progressive nonsyndromic hearing loss DFNA51.

artículo científico publicado en 2010

Gfi1 and Gfi1b act equivalently in haematopoiesis, but have distinct, non-overlapping functions in inner ear development

artículo científico publicado en 2006

Hear come more genes!

article

Hearing impairment: a panoply of genes and functions

artículo científico publicado en 2010

Hearing loss patterns after cochlear implantation via the round window in an animal model

artículo científico publicado en 2015

Hearing loss: a common disorder caused by many rare alleles

artículo científico publicado en 2010

Hearing loss: mechanisms revealed by genetics and cell biology

scientific article published on January 2009

Hereditary hearing loss: from human mutation to mechanism

artículo científico publicado en 2011

High-throughput sequencing to decipher the genetic heterogeneity of deafness

artículo científico publicado en 2012

Homozygote loss-of-function variants in the human COCH gene underlie hearing loss

scientific article published on 16 September 2020

Identification and characterization of key long non-coding RNAs in the mouse cochlea

artículo científico publicado en 2020

Identification and chromosomal localization of Atm, the mouse homolog of the ataxia-telangiectasia gene.

artículo científico publicado en 1996

Insights into inner ear-specific gene regulation: Epigenetics and non-coding RNAs in inner ear development and regeneration

artículo científico publicado en 2016

Integration of human and mouse genetics reveals pendrin function in hearing and deafness

artículo científico publicado en 2011

Integration of transcriptomics, proteomics, and microRNA analyses reveals novel microRNA regulation of targets in the mammalian inner ear

artículo científico publicado en 2011

Israel Society for Auditory Research (ISAR): 2013 Annual Scientific Conference ⬇️

artículo científico publicado el 1 de enero de 2013

Israel Society for Auditory Research (ISAR): 2014 annual scientific conference

artículo científico publicado en 2014

Lhx3, a LIM domain transcription factor, is regulated by Pou4f3 in the auditory but not in the vestibular system

artículo científico

MYO6, the Human Homologue of the Gene Responsible for Deafness in Snell’s Waltzer Mice, Is Mutated in Autosomal Dominant Nonsyndromic Hearing Loss

artículo científico publicado en 2001

Mapping of Murine Fibroblast Growth Factor Receptors Refines Regions of Homology between Mouse and Human Chromosomes

scientific article published on 01 June 1994

Mapping of the mouse homolog of the human runt domain gene, AML2, to the distal region of mouse chromosome 4

article

Mechanical forces drive ordered patterning of hair cells in the mammalian inner ear

artículo científico publicado en 2020

Mice with vestibular deficiency display hyperactivity, disorientation, and signs of anxiety

artículo científico publicado en 2009

MicroRNAs and epigenetic regulation in the mammalian inner ear: implications for deafness

scientific article published on September 2009

MicroRNAs are essential for development and function of inner ear hair cells in vertebrates

scientific journal article

MicroRNAs in sensorineural diseases of the ear.

artículo científico publicado en 2013

Motors, channels and the sounds of silence

scientific article published on 01 June 1997

Mouse models for deafness: lessons for the human inner ear and hearing loss

artículo científico publicado en 2003

Mouse models for human deafness: current tools for new fashions

artículo científico publicado en 2002

Mouse models to study inner ear development and hereditary hearing loss

artículo científico publicado en 2007

MuD: an interactive web server for the prediction of non-neutral substitutions using protein structural data

artículo científico publicado en 2010

MuD: an interactive web server for the prediction of non-neutral substitutions using protein structural data.

artículo científico publicado en 2010

Multiple mutations of MYO1A, a cochlear-expressed gene, in sensorineural hearing loss

artículo científico publicado en 2003

Murine chromosomal location of eight members of the hepatocyte nuclear factor 3/fork head winged helix family of transcription factors

artículo científico publicado en 1995

Murine chromosomal location of four class III POU transcription factors.

artículo científico publicado en 1993

Murine chromosomal location of four hepatocyte-enriched transcription factors: HNf-3α, HNF-3β, HNF-3γ, and HNF-4 ⬇️

artículo científico publicado el 1 de junio de 1992

Mutation in transcription factor POU4F3 associated with inherited progressive hearing loss in humans

artículo científico publicado en 1998

Mutations in a novel isoform of TRIOBP that encodes a filamentous-actin binding protein are responsible for DFNB28 recessive nonsyndromic hearing loss

artículo científico publicado en 2006

Myo15 function is distinct from Myo6, Myo7a and pirouette genes in development of cochlear stereocilia

artículo científico publicado en 2003

Myosin VI is required for structural integrity of the apical surface of sensory hair cells in zebrafish

artículo científico publicado en 2004

Neonatal AAV gene therapy rescues hearing in a mouse model of SYNE4 deafness

artículo científico publicado en 2020

Next-generation sequencing of small RNAs from inner ear sensory epithelium identifies microRNAs and defines regulatory pathways

artículo científico publicado en 2014

Nonsense mutation of the stereociliar membrane protein gene PTPRQ in human hearing loss DFNB84.

artículo científico publicado en 2010

Novel myosin mutations for hereditary hearing loss revealed by targeted genomic capture and massively parallel sequencing

artículo científico publicado en 2013

Otoancorin, an inner ear protein restricted to the interface between the apical surface of sensory epithelia and their overlying acellular gels, is defective in autosomal recessive deafness DFNB22.

artículo científico publicado en 2002

Premature aging changes in neuromuscular junctions of transgenic mice with an extra human CuZnSOD gene: A model for tongue pathology in Down's syndrome

article

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

artículo científico publicado en 2003

Progressive vestibular mutation leads to elevated anxiety

artículo científico publicado en 2010

Promoting Arab and Israeli cooperation: peacebuilding through health initiatives

artículo científico publicado en 2005

Prospects for gene therapy in hearing loss

artículo científico publicado en 2003

Reduced changes in protein compared to mRNA levels across non-proliferating tissues

artículo científico publicado en 2017

Rescue from hearing loss in Usher's syndrome

artículo científico publicado en 2013

Role of myosin VI in the differentiation of cochlear hair cells

scientific journal article

SPIKE: a database of highly curated human signaling pathways

artículo científico publicado en 2011

Single cell analysis of the inner ear sensory organs

artículo científico publicado en 2017

Sounds from the cochlea ⬇️

artículo científico publicado el 11 de diciembre de 1997

Spectrum of genes for inherited hearing loss in the Israeli Jewish population, including the novel human deafness gene ATOH1

artículo científico publicado en 2020

Targeted Disruption of the Mouse Caspase 8 Gene Ablates Cell Death Induction by the TNF Receptors, Fas/Apo1, and DR3 and Is Lethal Prenatally ⬇️

artículo científico publicado el 1 de agosto de 1998

Targeted genomic capture and massively parallel sequencing to identify genes for hereditary hearing loss in Middle Eastern families

artículo científico publicado en 2011

The DFNA15 deafness mutation affects POU4F3 protein stability, localization, and transcriptional activity

artículo científico publicado en 2003

The GPSM2/LGN GoLoco motifs are essential for hearing

artículo científico publicado en 2015

The LINC complex is essential for hearing

artículo científico publicado en 2013

The Notch ligand Jagged1 is required for inner ear sensory development.

artículo científico publicado en 2001

The R245X mutation of PCDH15 in Ashkenazi Jewish children diagnosed with nonsyndromic hearing loss foreshadows retinitis pigmentosa

artículo científico publicado en 2004

The Slc26a4 loop Mouse Model for Pendred’s Syndrome and Nonsyndroic Deafness

artículo científico publicado en 2017

The Structural Context of Disease-causing Mutations in Gap Junctions

artículo científico publicado en 2006

The acquisition of mechano-electrical transducer current adaptation in auditory hair cells requires myosin VI

artículo científico publicado en 2016

The genetics of hearing loss

artículo científico publicado en 1999

The inner ear phenotype of Volchok (Vlk): An ENU-induced mouse model for CHARGE syndrome

The long and short: Non-coding RNAs in the mammalian inner ear

scientific article published in 2023

The many faces of sensorineural hearing loss: one founder and two novel mutations affecting one family of mixed Jewish ancestry

artículo científico publicado en 2013

The mouse Snell's waltzer deafness gene encodes an unconventional myosin required for structural integrity of inner ear hair cells

scientific journal article

The noncoding genome and hearing loss

scientific article published in 2021

Therapeutics of hearing loss: expectations vs reality

artículo científico publicado en 2005

Time-dependent gene expression analysis of the developing superior olivary complex

artículo científico publicado en 2013

Transcription profiling of inner ears from Pou4f3(ddl/ddl) identifies Gfi1 as a target of the Pou4f3 deafness gene

artículo científico publicado en 2004

USH3A transcripts encode clarin-1, a four-transmembrane-domain protein with a possible role in sensory synapses

artículo científico publicado en 2002

Use of transgenic animals to study disease models: hyperoxic lung injury and ischemic acute renal failure in "high SOD" mice

artículo científico publicado el 1 de enero de 1992

What's hot about otoferlin

artículo científico publicado en 2016

Whole exome sequencing and homozygosity mapping identify mutation in the cell polarity protein GPSM2 as the cause of nonsyndromic hearing loss DFNB82.

artículo científico publicado en 2010

miR-96 is required for normal development of the auditory hindbrain

artículo científico publicado en 2018

microRNA-224 regulates Pentraxin 3, a component of the humoral arm of innate immunity, in inner ear inflammation

artículo científico publicado en 2014

microRNAs: the art of silencing in the ear

artículo científico publicado en 2012

Lista de obras de Karen Avraham

A "Tric" to tighten cell-cell junctions in the cochlea for hearing

A Myo6 mutation destroys coordination between the myosin heads, revealing new functions of myosin VI in the stereocilia of mammalian inner ear hair cells

A Myo7a mutation cosegregates with stereocilia defects and low-frequency hearing impairment

A homozygous AP3D1 missense variant in patients with sensorineural hearing loss as the leading manifestation

A mouse model for benign paroxysmal positional vertigo with genetic predisposition for displaced otoconia

A mouse model for human hearing loss DFNB30 due to loss of function of myosin IIIA

A mutation of PCDH15 among Ashkenazi Jews with the type 1 Usher syndrome

A novel SLC26A4 (PDS) deafness mutation retained in the endoplasmic reticulum

A novel deletion involving the connexin-30 gene, del(GJB6-d13s1854), found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 non-syndromic hearing impairment.

A synonymous variant in MYO15A enriched in the Ashkenazi Jewish population causes autosomal recessive hearing loss due to abnormal splicing

Advances in genetic diagnostics for hereditary hearing loss

An ENU-induced mutation in AP-2alpha leads to middle ear and ocular defects in Doarad mice

Ankrd6 is a mammalian functional homolog of Drosophila planar cell polarity gene diego and regulates coordinated cellular orientation in the mouse inner ear.

Apparent phenotypic anticipation in autosomal dominant connexin 26 deafness

Atrophic thyroid follicles and inner ear defects reminiscent of cochlear hypothyroidism in Slc26a4-related deafness

Audiological Manifestations and Features of Connexin 26 Deafness

Balance deficit enhances anxiety and balance training decreases anxiety in vestibular mutant mice

Beethoven, a mouse model for dominant, progressive hearing loss DFNA36.

Brn-3c (POU4F3) regulates BDNF and NT-3 promoter activity

CLRN1 is nonessential in the mouse retina but is required for cochlear hair cell development

Calcium oxalate stone formation in the inner ear as a result of an Slc26a4 mutation

Characterization of unconventional MYO6, the human homologue of the gene responsible for deafness in Snell's waltzer mice ⬇️

Chromosomal mapping and phenotypic characterization of hereditary otosclerosis linked to the OTSC4 locus

Chromosomal organization and transcriptional regulation of human GEM and localization of the human and mouse GEM loci encoding an inducible Ras-like protein

Clinical Characterization of Genetic Hearing Loss Caused by a Mutation in the POU4F3 Transcription Factor

Collaborative genomics for human health and cooperation in the Mediterranean region

Computational analysis of mRNA expression profiling in the inner ear reveals candidate transcription factors associated with proliferation, differentiation, and deafness.

Connexin 26 null mice exhibit spiral ganglion degeneration that can be blocked by BDNF gene therapy

Connexin-associated deafness and speech perception outcome of cochlear implantation

Connexins in hearing loss: a comprehensive overview

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

Cytoplasmic mislocalization of POU3F4 due to novel mutations leads to deafness in humans and mice

DNA methylation dynamics during embryonic development and postnatal maturation of the mouse auditory sensory epithelium

Deafness genes in Israel: implications for diagnostics in the clinic

Down's syndrome: Abnormal neuromuscular junction in tongue of transgenic mice with elevated levels of human Cu/Zn-superoxide dismutase

Down's syndrome: morphological remodelling and increased complexity in the neuromuscular junction of transgenic CuZn-superoxide dismutase mice

Egr2::cre mediated conditional ablation of dicer disrupts histogenesis of mammalian central auditory nuclei

Emerging complexities of the mouse as a model for human hearing loss

Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss

Expression of manganese superoxide dismutase is not altered in transgenic mice with elevated level of copper-zinc superoxide dismutase

Five novel loci for inherited hearing loss mapped by SNP-based homozygosity profiles in Palestinian families

From flies' eyes to our ears: mutations in a human class III myosin cause progressive nonsyndromic hearing loss DFNB30

Functional characterization of pendrin mutations found in the Israeli and Palestinian populations

Future Trends and Potential for Treatment of Sensorineural Hearing Loss

GJB2 mutations and degree of hearing loss: a multicenter study

Genetic Therapies for Hearing Loss: Accomplishments and Remaining Challenges

Genetics of Hearing Loss: Syndromic

Genetics of congenital deafness in the Palestinian population: multiple connexin 26 alleles with shared origins in the Middle East

Genetics of deafness: recent advances and clinical implications

Genetics of hearing loss in the Arab population of Northern Israel

Genome-wide identification and expression profiling of long non-coding RNAs in auditory and vestibular systems

Genome-wide, large-scale production of mutant mice by ENU mutagenesis.

Genomic advances for gene discovery in hereditary hearing loss

Genomic analysis of inherited hearing loss in the Palestinian population

Genomic duplication and overexpression of TJP2/ZO-2 leads to altered expression of apoptosis genes in progressive nonsyndromic hearing loss DFNA51.

Gfi1 and Gfi1b act equivalently in haematopoiesis, but have distinct, non-overlapping functions in inner ear development

Hear come more genes!

Hearing impairment: a panoply of genes and functions

Hearing loss patterns after cochlear implantation via the round window in an animal model

Hearing loss: a common disorder caused by many rare alleles

Hearing loss: mechanisms revealed by genetics and cell biology

Hereditary hearing loss: from human mutation to mechanism

High-throughput sequencing to decipher the genetic heterogeneity of deafness

Homozygote loss-of-function variants in the human COCH gene underlie hearing loss

Identification and characterization of key long non-coding RNAs in the mouse cochlea

Identification and chromosomal localization of Atm, the mouse homolog of the ataxia-telangiectasia gene.

Insights into inner ear-specific gene regulation: Epigenetics and non-coding RNAs in inner ear development and regeneration

Integration of human and mouse genetics reveals pendrin function in hearing and deafness

Integration of transcriptomics, proteomics, and microRNA analyses reveals novel microRNA regulation of targets in the mammalian inner ear

Israel Society for Auditory Research (ISAR): 2013 Annual Scientific Conference ⬇️

Israel Society for Auditory Research (ISAR): 2014 annual scientific conference

Lhx3, a LIM domain transcription factor, is regulated by Pou4f3 in the auditory but not in the vestibular system

MYO6, the Human Homologue of the Gene Responsible for Deafness in Snell’s Waltzer Mice, Is Mutated in Autosomal Dominant Nonsyndromic Hearing Loss

Mapping of Murine Fibroblast Growth Factor Receptors Refines Regions of Homology between Mouse and Human Chromosomes

Mapping of the mouse homolog of the human runt domain gene, AML2, to the distal region of mouse chromosome 4

Mechanical forces drive ordered patterning of hair cells in the mammalian inner ear

Mice with vestibular deficiency display hyperactivity, disorientation, and signs of anxiety

MicroRNAs and epigenetic regulation in the mammalian inner ear: implications for deafness

MicroRNAs are essential for development and function of inner ear hair cells in vertebrates