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

Amiel A. Dror, Zippora Brownstein, Karen B. Avraham

פרסום מחקרי: פרסום בכתב עתסקירהביקורת עמיתים

תקציר

Genomic technology has completely changed the way in which we are able to diagnose human genetic mutations. Genomic techniques such as the polymerase chain reaction, linkage analysis, Sanger sequencing, and most recently, massively parallel sequencing, have allowed researchers and clinicians to identify mutations for patients with Pendred syndrome and DFNB4 non-syndromic hearing loss. While thus far most of the mutations have been in the SLC26A4 gene coding for the pendrin protein, other genetic mutations may contribute to these phenotypes as well. Furthermore, mouse models for deafness have been invaluable to help determine the mechanisms for SLC26A4-associated deafness. Further work in these areas of research will help define genotype-phenotype correlations and develop methods for therapy in the future.

שפה מקוריתאנגלית
עמודים (מ-עד)535-544
מספר עמודים10
כתב עתCellular Physiology and Biochemistry
כרך28
מספר גיליון3
מזהי עצם דיגיטלי (DOIs)
סטטוס פרסוםפורסם - 2011

ASJC Scopus subject areas

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