List of works by Karen Avraham

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

scientific article published on 27 August 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

scientific article

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

scientific article published on 02 January 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

scientific article

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

scientific article published in April 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.

scientific article published in July 2005

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

scientific article published in 2021

Advances in genetic diagnostics for hereditary hearing loss

scientific article published on January 2013

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

scientific article

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

scientific article published on 10 September 2014

Apparent phenotypic anticipation in autosomal dominant connexin 26 deafness

scientific article published in September 2014

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

scientific article published on 24 April 2014

Audiological Manifestations and Features of Connexin 26 Deafness

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

scientific article published on 29 June 2014

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

scientific article

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

scientific article

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

scientific article

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

scientific article

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

scientific article published on August 1, 1997

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

scientific article published in April 2006

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

scientific article

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

seintific article

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.

scientific article

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

scientific article

Connexin-associated deafness and speech perception outcome of cochlear implantation

scientific article published on May 2006

Connexins in hearing loss: a comprehensive overview

scientific article

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

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

scientific article

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

scientific article published in Scientific Reports

Deafness genes in Israel: implications for diagnostics in the clinic

scientific article published on August 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

scientific article published on 01 March 1991

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

scientific article

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

scientific article published in 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

scientific article published on 01 December 1993

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

scientific article

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

scientific article

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

scientific article

Future Trends and Potential for Treatment of Sensorineural Hearing Loss

GJB2 mutations and degree of hearing loss: a multicenter study

scientific article

Genetic Therapies for Hearing Loss: Accomplishments and Remaining Challenges

scientific article published on 03 October 2019

Genetics of Hearing Loss: Syndromic

scientific article

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

scientific article published on 8 February 2002

Genetics of deafness: recent advances and clinical implications

scientific article

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

scientific article published on 17 August 2017

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

scientific article

Genomic advances for gene discovery in hereditary hearing loss

scientific article published on 07 September 2012

Genomic analysis of inherited hearing loss in the Palestinian population

scientific article published on 03 August 2020

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

scientific article

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

scientific article

Hear come more genes!

article

Hearing impairment: a panoply of genes and functions

scientific article published on October 2010

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

scientific article published on 9 December 2015

Hearing loss: a common disorder caused by many rare alleles

scientific article

Hearing loss: mechanisms revealed by genetics and cell biology

scientific article published on January 2009

Hereditary hearing loss: from human mutation to mechanism

scientific article published on 06 June 2011

High-throughput sequencing to decipher the genetic heterogeneity of deafness

scientific article

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

scientific article published on 01 November 2020

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

scientific article published on July 1996

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

scientific article published on 8 November 2016

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

scientific article

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

scientific article

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

scientific article published in January 2013

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

scientific article published in September 2014

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

scientific article published on February 2007

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

scientific article published in September 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

scientific article published on 12 October 2020

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

scientific article

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.

scientific article

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

scientific article

Mouse models for human deafness: current tools for new fashions

scientific article

Mouse models to study inner ear development and hereditary hearing loss

scientific article published on January 2007

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

scientific article

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

scientific article published on 23 November 2010

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

scientific article

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

scientific article published on 01 January 1995

Murine chromosomal location of four class III POU transcription factors.

scientific article published in October 1993

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

scientific article published on June 1, 1992

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

scientific article

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

scientific article

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

scientific article

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

scientific article published in August 2004

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

scientific article published on 22 December 2020

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

scientific article

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

scientific article published on 14 May 2010

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

scientific article

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.

scientific article

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

scientific article

Progressive vestibular mutation leads to elevated anxiety

scientific article published on 4 January 2010

Promoting Arab and Israeli cooperation: peacebuilding through health initiatives

scientific article

Prospects for gene therapy in hearing loss

scientific article published on January 2003

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

scientific article

Rescue from hearing loss in Usher's syndrome

scientific article published in October 2013

Role of myosin VI in the differentiation of cochlear hair cells

scientific journal article

SPIKE: a database of highly curated human signaling pathways

scientific article

Single cell analysis of the inner ear sensory organs

scientific article published in January 2017

Sounds from the cochlea

scientific article published in Nature

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

scientific article published on 24 August 2020

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

scientific article

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

scientific article

The GPSM2/LGN GoLoco motifs are essential for hearing

scientific article published on 11 December 2015

The LINC complex is essential for hearing

scientific article

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

scholarly article

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

scientific article published on 17 March 2004

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

scientific article published on 3 March 2017

The Structural Context of Disease-causing Mutations in Gap Junctions

scientific article published in Journal of Biological Chemistry

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

scientific article published on 22 April 2016

The genetics of hearing loss

scientific article

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

scientific article published on 24 December 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

scientific article

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

scientific article

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

scientific article

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

scientific article

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

scientific article published on January 1, 1992

What's hot about otoferlin

scientific article published on 7 November 2016

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

scientific article

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

scientific article

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

scientific article

microRNAs: the art of silencing in the ear

scientific article

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