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Dept Otorhinolaryngology (377)
P.O. Box 9101
6500 HB Nijmegen
The Netherlands
Geert Grooteplein 10
6525 GA Nijmegen
The Netherlands
T +31 24 3610487
F +31 24 3668752


Hannie Kremer is leader or the Otogenetics Research Group in the Department of Otorhinolaryngology. The research in her group is focused on the elucidation of the molecular defects that underlie hereditary hearing loss and deafblindness (Usher syndrome).
Dr. Hannie Kremer

Research is focused on the unraveling of the molecular defects that underly genetically heterogeneous nonsyndromic hearing loss and Usher syndrome (inner ear and retina dysfunction). We aim to identify novel deafness genes and their functional characterization. Dissection of the Usher protein network is being performed to identify novel candidate genes for Usher syndrome, nonsyndromic hearing loss and retinal degeneration and to obtain insight in the pathogenesis of these disorders. Furthermore, these studies will pave the way for future therapy.
 
Recent key publications

van Wijk,E., van der Zwaag,B., Peters,T., Zimmermann,U., te Brinke,H., Kersten,F.F., Märker,T., Aller,E., Hoefsloot,L.H., Cremers,C.W., Cremers,F.P., Wolfrum,U., Knipper,M., Roepman,R., Kremer,H. (2006) The DFNB31 gene product whirlin connects to the Usher protein network in the cochlea and retina by direct association with USH2A and VLGR1. Hum. Mol. Genet., 15, 751-765.

Collin RW, Chellappa R, Pauw RJ, Vriend G, Oostrik J, van Drunen W, Huygen PL, Admiraal R, Hoefsloot LH, Cremers FP, Xiang M, Cremers CW, Kremer H. (2008) Missense mutations in POU4F3 cause autosomal dominant hearing impairment DFNA15 and affect subcellular localization and DNA binding. Hum Mutat 29:545-54.

Collin RW, Kalay E, Tariq M, Peters T, van der Zwaag B, Venselaar H, Oostrik J, Lee K, Ahmed ZM, Caylan R, Li Y, Spierenburg HA, Eyupoglu E, Heister A, Riazuddin S, Bahat E, Ansar M, Arslan S, Wollnik B, Brunner HG, Cremers CW, Karaguzel A, Ahmad W, Cremers FP, Vriend G, Friedman TB, Riazuddin S, Leal SM, Kremer H (2008) Mutations of ESRRB encoding estrogen-related receptor beta cause autosomal-recessive nonsyndromic hearing impairment DFNB35. Am J Hum Genet 82,125-138.

Ahmed ZM, Masmoudi S, Kalay E, Belyantseva IA, Mosrati MA, Collin RW, Riazuddin S, Hmani-Aifa M, Venselaar H, Kawar MN, Tlili A, van der Zwaag B, Khan SY, Ayadi L, Riazuddin SA, Morell RJ, Griffith AJ, Charfedine I, Caylan R, Oostrik J, Karaguzel A, Ghorbel A, Riazuddin S, Friedman TB, Ayadi H, Kremer H. (2008) Mutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in human. Nat Genet 40:1335-40.

van Wijk E, Kersten FF, Kartono A, Mans DA, Brandwijk K, Letteboer SJ, Peters TA, Märker T, Yan X, Cremers CW, Cremers FP, Wolfrum U, Roepman R, Kremer H. (2009) Usher syndrome and Leber congenital amaurosis are molecularly linked via a novel isoform of the centrosomal ninein-like protein. Hum Mol Genet 18:51-64.