Inga Ebermann
University of Cologne
19 Papers
377 Citations
Inga Ebermann is an academic researcher from University of Cologne. The author has contributed to research in topics: Usher syndrome & Retinitis pigmentosa. The author has an hindex of 15, co-authored 19 publications.
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Papers
PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome
Inga Ebermann,Jennifer B. Phillips,Max C. Liebau,Robert K. Koenekoop,Bernhard Schermer,Irma Lopez,Ellen Schäfer,Anne-Françoise Roux,Claudia Dafinger,Antje Bernd,Eberhart Zrenner,Mireille Claustres,Bernardo Blanco,Gudrun Nürnberg,Peter Nürnberg,Rebecca Ruland,Monte Westerfield,Thomas Benzing,Hanno J. Bolz +18 more
TL;DR: It is determined that mutations in PDZ domain-containing 7 (PDZD7), which encodes a homolog of proteins mutated in Usher Syndrome subtype 1C (USH1C) and USH2D, contribute to Usher syndrome.
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A novel gene for Usher syndrome type 2: mutations in the long isoform of whirlin are associated with retinitis pigmentosa and sensorineural hearing loss.
Inga Ebermann,Hendrik P. N. Scholl,Peter Charbel Issa,Elvir Becirovic,Jürgen Lamprecht,Bernhard Jurklies,José M. Millán,Elena Aller,Diana Mitter,Hanno J. Bolz +9 more
TL;DR: In this paper, the authors proposed that mutations in the C-terminal half of whirlin have previously been reported in non-syndromic deafness (DFNB31), both alterations identified in our USH2 family affect the long protein isoform.
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Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics.
Claudia Dafinger,Max C. Liebau,Solaf M. Elsayed,Yorck Hellenbroich,Eugen Boltshauser,Georg Christoph Korenke,Francesca Fabretti,Andreas R. Janecke,Inga Ebermann,Gudrun Nürnberg,Peter Nürnberg,Hanswalter Zentgraf,Friederike Koerber,Klaus Addicks,Ezzat Elsobky,Thomas Benzing,Bernhard Schermer,Hanno J. Bolz +17 more
TL;DR: It is suggested that modified microtubule stability and growth direction caused by loss of KIF7 function may be an underlying disease mechanism contributing to JBTS.
Truncating mutation of the DFNB59 gene causes cochlear hearing impairment and central vestibular dysfunction
Inga Ebermann,Martin Walger,Hendrik P. N. Scholl,Peter Charbel Issa,Christoph Lüke,Gudrun Nürnberg,Ruth Lang-Roth,Christian Becker,Peter Nürnberg,Hanno J. Bolz +9 more
TL;DR: It is shown that besides otoferlin (OTOF), DFNB59 is the second known gene in which mutations can result in these two distinct forms of hearing impairment, and all patients in the family with homozygosity for the DFNB 59 mutation display central vestibular dysfunction.
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Targeted next-generation sequencing identifies a homozygous nonsense mutation in ABHD12, the gene underlying PHARC, in a family clinically diagnosed with Usher syndrome type 3
Tobias Eisenberger,Rima Slim,Ahmad M. Mansour,Markus Nauck,Gudrun Nürnberg,Peter Nürnberg,Christian Decker,Claudia Dafinger,Inga Ebermann,Carsten Bergmann,Hanno J. Bolz +10 more
TL;DR: In this article, a consanguineous Lebanese family with two affected members displaying progressive hearing loss, retinitis pigmentosa (RP) and cataracts was identified as USH type 3 (USH3).