Karen B. Avraham

Prof. Karen B. Avraham


Research Focus & Metrics

Academic Career Length

40Years (1987-Present)

(Calculated once Scilit publication data is synced: current year − year of first publication + 1)

Representative Publications

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1 August 1998 in Immunity
Verified
Journal Article
Closed access
EVEugene E Varfolomeev
Eugene E Varfolomeev
MSMarcus Schuchmann
Marcus Schuchmann
VLVictor Luria
Victor Luria
NCNuchanard Chiannilkulchai
Nuchanard Chiannilkulchai
JBJacques S Beckmann
Jacques S Beckmann
DWDavid Wallach
David Wallach

1 August 2000 in Nature Genetics
Verified
Journal Article
Closed access
PDF file
MAMartin M. Hrabě de Angelis
Martin M. Hrabě de Angelis
HFHeinrich Flaswinkel
Heinrich Flaswinkel
HFHelmut Fuchs
Helmut Fuchs
BRBirgit Rathkolb
Birgit Rathkolb
DSDian Soewarto
Dian Soewarto
RBRudi Balling
Rudi Balling

1 December 2005 in The American Journal of Human Genetics
Verified
Journal Article
Closed access
RSRikkert L. Snoeckx
Rikkert L. Snoeckx
PHPatrick L.M. Huygen
Patrick L.M. Huygen
DFDelphine Feldmann
Delphine Feldmann
SMSandrine Marlin
Sandrine Marlin
FDFrançoise Denoyelle
Françoise Denoyelle
GCGuy Van Camp
Guy Van Camp

1 December 1995 in Nature Genetics
Verified
Journal Article
Open access
PDF file
KAKaren B. Avraham
Karen B. Avraham
THTama Hasson
Tama Hasson
KSKaren P. Steel
Karen P. Steel
DKDavid M. Kingsley
David M. Kingsley
LRLiane B. Russell
Liane B. Russell
NJNancy A. Jenkins
Nancy A. Jenkins
The mouse represents an excellent model system for the study of genetic deafness in humans. Many mouse deafness mutants have been identified and the anatomy of the mouse and human ear is similar. Here we report the use of a positional cloning approach to identify the gene encoded by the mouse recessive deafness mutation, Snell's waltzer (sv). We show that sv encodes an unconventional myosin heavy chain, myosin VI, which is expressed within the sensory hair cells of the inner ear, and appears to be required for maintaining their structural integrity. The requirement for myosin VI in hearing makes this gene an excellent candidate for a human deafness disorder.

1 November 1987 in Proceedings of the National Academy of Sciences
Verified
Journal Article
Closed access
CEC J Epstein
C J Epstein
KAKaren B. Avraham
Karen B. Avraham
MLM Lovett
M Lovett
SSS Smith
S Smith
Orna Elroy-SteinOrna Elroy-Stein
Orna Elroy-Stein
YGY Groner
Y Groner
Down syndrome, the phenotypic expression of human trisomy 21, is presumed to result from a 1.5-fold increase in the expression of the genes on human chromosome 21. As an approach to the development of an animal model for Down syndrome, several strains of transgenic mice that carry the human Cu/Zn-superoxide dismutase gene have been prepared. These animals express the transgene in a manner similar to that of humans, with 0.9- and 0.7-kilobase transcripts in a 1:4 ratio, and synthesize the human enzyme in an active form capable of forming human-mouse enzyme heterodimers. Cu/Zn-superoxide superoxide dismutase activity is increased from 1.6- to 6.0-fold in the brains of four transgenic strains and to an equal or lesser extent in several other tissues. These animals provide a unique system for studying the consequences of increased dosage of the Cu/Zn-superoxide dismutase gene in Down syndrome and the role of this enzyme in a variety of other pathological processes.

20 March 1998 in Science
Verified
Journal Article
Closed access
PDF file
OVOz Vahava
Oz Vahava
RMRobert James Morell
Robert James Morell
ELEric D. Lynch
Eric D. Lynch
SWSigal Weiss
Sigal Weiss
MKMarjory E. Kagan
Marjory E. Kagan
KAKaren B. Avraham
Karen B. Avraham
The molecular basis for autosomal dominant progressive nonsyndromic hearing loss in an Israeli Jewish family, Family H, has been determined. Linkage analysis placed this deafness locus, DFNA15 , on chromosome 5q31. The human homolog of mouse Pou4f3 , a member of the POU-domain family of transcription factors whose targeted inactivation causes profound deafness in mice, was physically mapped to the 25-centimorgan DFNA15-linked region. An 8–base pair deletion in the POU homeodomain of human POU4F3 was identified in Family H. A truncated protein presumably impairs high-affinity binding of this transcription factor in a dominant negative fashion, leading to progressive hearing loss.