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Institut für Medizinische Molekulargenetik

Barbara Kloeckener

Current Position

  • Senior Scientist / Group Leader

Education and Training

  • Ph.D. in Biology (1985) University of Colorado, Department of Molecular, Cellular and Developmental Biology, Boulder, Colorado, USA
  • Diplom Degree in Biology (1979) University of Bonn, Department of Genetics, Bonn, Germany
  • Highschool Diploma, Abitur (1972) Mädchengymnasium der Armen Schulschwestern, Arnsberg, Germany

Research Interests

  • Much of our work focuses on the understanding of eye diseases of both, the anterior and the posterior part of the eye. We are investigating monogenetic diseases as well as complex age-related diseases.  For the first group the identification of novel disease-causing genes involves either linkage analysis or candidate gene sequencing (examples are juvenile cataract, the vitreoretinopathy Wagner disease and the immune-deficiency disease ICF).  For complex age-related diseases, we are searching for disease-predisposing factors through sequence variant (SNP) analyses involved in age-related cataract and age-related macular degeneration.  Once genetic loci have been identified, we are studying their gene expression pattern and protein function in tissue, cell culture or animal models.

Selected Publications

  • Da Costa R, Glaus E, Tiwari A, Kloeckener-Gruissem B, Berger W, Neidhardt J (2015) Localizing the RPGR protein along the cilium: a new method to determine efficacies to treat RPGR mutations. Gene Ther 22:413-420
  • Dhayat N, Simonin A, Anderegg M, Pathare G, Luscher BP, Deisl C, Albano G, Mordasini D, Hediger MA, Surbek DV, Vogt B, Sass JO, Kloeckener-Gruissem B, Fuster DG (2015) Mutation in the creatine transporter MCT12 causes low plasma level and increased fractional excretion of guanidinoacetate but not glucosuria. J Am Soc Nephrol (Epub ahead of print, Sept 2015)
  • Kloeckener-Gruissem B, Amstutz C. VCAN-Related Vitreoretinopathy. First time publication: 2009 Feb 3 [Updated 2016 Jan 7]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016. Available from: http://www.ncbi.nlm.nih.gov/books/NBK3821/
  • Thijssen PE, Ito Y, Grillo G, Wang J, Velasco G, Nitta H, Unoki M, Yoshihara M, Suyama M, Sun Y, Lemmers RJLF, deGreef JC, Gennery A, Picco P, Kloeckener-Gruissem B, Güngör T, Reisli I, Picard C, Kebaili K, Roquelaure B, Iwai T, Kondo I, Kubota T, van Ostaijen-Ten Dam MM, van Tol MJD, Weemaes C, Francastel C, van der Maarel SM and Sasaki H (2015) Mutations in CDCA7 and HELLS cause immunodeficiency-centromeric instability-facial anomalies syndrome. Nat Commun 6:7870, PMID: 26216346
  • Oczos J, Sutter I, Kloeckener-Gruissem B, Berger W, Riwanto M, Rentsch K, Hornemann T, von Eckardstein A, Grimm C (2014) Lack of paraoxonase 1 alters phospholipid composition, but not morphology and function of the mouse retina. Invest Ophthalmol Vis Sci 55:4714-4727
  • Abplanalp J, Laczko E, Philp NJ, Neidhardt J, Zuercher J, Braun P, Schorderet DF, Munier FL, Verrey F, Berger W, Camargo SMR, Kloeckener-Gruissem B (2013) The cataract and glucosuria associated monocarboxylate transporter MCT12 is a new creatine transporter. Hum Mol Genet 22:3218-3226
  • Weemaes CMR, van Tol MJD, Wang J, van Ostaijen-ten Dam MM, van Eggermond MCJM, Thijssen PE, Aytekin C, Brunetti-Pierri N, van der Burg M, E. Davies G, Ferster A, Furthner D, Gimelli G, Gennery A, Kloeckener-Gruissem B, Meyn S, Powell C, Reisli I, Schuetz C, Schulz A, Shugar A, van den Elsen PJ, van der Maarel SM (2013) Heterogeneous clinical presentation in ICF syndrome: correlation with underlying gene defects. Eur J Hum Genet 208:1102-1112
  • Oczos J, Grimm C, Barthelmes D, Sutter F, Menghini M, Kloeckener-Gruissem B, Berger W (2012) Regulatory regions of the paraoxonase 1 (PON1) gene are associated with neovascular age-related macular degeneration (AMD). Age
  • Menghini M, Kloeckener-Gruissem B, Fleischhauer J, Kurz-Levin MM, Sutter FK, Berger W, Barthelmes D (2012) Impact of Loading Phase, Initial Response and CFH Genotype on the Long-Term Outcome of Treatment for Neovascular Age-Related Macular Degeneration. PLoS One 7:e42014
  • Kloeckener-Gruissem B, Neidhardt J, Magyar I, Plauchu H, Zech JC, Morle L, Palmer-Smith SM, Macdonald MJ, Nas V, Fry AE, Berger W (2012) Novel VCAN mutations and evidence for unbalanced alternative splicing in the pathogenesis of Wagner syndrome. Eur J Hum Genet (Epub ehead of print)
  • Castorino JJ, Gallagher-Colombo SM, Levin AV, Fitzgerald PG, Polishook J, Kloeckener-Gruissem B, Ostertag E, Philp NJ (2011) Juvenile cataract-associated mutation of solute carrier SLC16A12 impairs trafficking of the protein to the plasma membrane. Invest Ophthalmol Vis Sci  52:6774-6784
  • Kloeckener-Gruissem B, Barthelmes D, Labs S, Schindler C, Kurz-Levin M, Michels S, Fleischhauer J, Berger W, Sutter F, Menghini M (2011) Genetic association with response to intravitreal ranibizumab in patients with neovascular AMD. Invest Ophthalmol Vis Sci 52:4694-4702
  • Berger W, Kloeckener-Gruissem B, Neidhardt J (2010) The molecular basis of human retinal and vitreoretinal diseases. Prog Retin Eye Res 29:335-375
  • Zuercher J, Neidhardt J, Magyar I, Labs S, Moore AT, Tanner FC, Waseem N, Schorderet DF, Munier FL, Bhattacharya S, Berger W, Kloeckener-Gruissem B (2010) Alterations of the 5'untranslated region of SLC16A12 lead to age-related cataract. Invest Ophthalmol Vis Sci 51:3354-3361
  • Schmid F, Glaus E, Cremers FP, Kloeckener-Gruissem B, Berger W, Neidhardt J (2010) Mutation- and tissue-specific alterations of RPGR transcripts. Invest Ophthalmol Vis Sci 51:1628-1635
  • Luhmann UF, Neidhardt J, Kloeckener-Gruissem B, Schafer NF, Glaus E, Feil S, Berger W (2008) Vascular changes in the cerebellum of Norrin /Ndph knockout mice correlate with high expression of Norrin and Frizzled-4. Eur J Neurosci 27:2619-2628
  • Poloschek CM, Kloeckener-Gruissem B, Hansen LL, Bach M, Berger W (2008) Syndromic choroideremia: sublocalization of phenotypes associated with Martin-Probst deafness mental retardation syndrome. Invest Ophthalmol Vis Sci 49:4096-4104
  • Zeitz C, Gross AK, Leifert D, Kloeckener-Gruissem B, McAlear SD, Lemke J, Neidhardt J, Berger W (2008) Identification and functional characterization of a novel rhodopsin mutation associated with autosomal dominant CSNB. Invest Ophthalmol Vis Sci 49:4105-4114
  • Kloeckener-Gruissem B, Vandekerckhove K, Nurnberg G, Neidhardt J, Zeitz C, Nurnberg P, Schipper I, Berger W (2008) Mutation of solute carrier SLC16A12 associates with a syndrome combining juvenile cataract with microcornea and renal glucosuria. Am J Hum Genet 82:772-779
  • Reimann C, Kloeckener-Gruissem B, Niemeyer CM, Vanscheidt W (2008) Late manifestation of dyskeratosis congenita presenting as chronic dermal ulcer in a 37-year-old man. J Eur Acad Dermatol Venereol 22:897-898
  • Junge S, Kloeckener-Gruissem B, Zufferey R, Keisker A, Salgo B, Fauchere JC, Scherer F, Shalaby T, Grotzer M, Siler U, Seger R, Gungor T (2007) Correlation between recent thymic emigrants and CD31+ (PECAM-1) CD4+ T cells in normal individuals during aging and in lymphopenic children. Eur J Immunol 37:3270-3280
  • Biebinger R, Arnold M, Koss M, Kloeckener-Gruissem B, Langhans W, Hurrell RF, Zimmermann MB (2006) Effect of concurrent vitamin A and iodine deficiencies on the thyroid-pituitary axis in rats. Thyroid 16:961-965
  • Zeitz C, Kloeckener-Gruissem B, Forster U, Kohl S, Magyar I, Wissinger B, Matyas G, Borruat FX, Schorderet DF, Zrenner E, Munier FL, Berger W (2006) Mutations in CABP4, the gene encoding the Ca2+-binding protein 4, cause autosomal recessive night blindness. Am J Hum Genet 79:657-667
  • Kloeckener-Gruissem B, Bartholdi D, Abdou MT, Zimmermann DR, Berger W (2006) Identification of the genetic defect in the original Wagner syndrome family. Mol Vis 12:350-355
  • Kurz DJ, Kloeckener-Gruissem B, Akhmedov A, Eberli FR, Buhler I, Berger W, Bertel O, Luscher TF (2006) Degenerative aortic valve stenosis, but not coronary disease, is associated with shorter telomere length in the elderly. Arterioscler Thromb Vasc Biol 26:e114-e117
  • Kloeckener-Gruissem B, Betts DR, Zankl A, Berger W, Gungor T (2005) A new and a reclassified ICF patient without mutations in DNMT3B and its interacting proteins SUMO-1 and UBC9. Am J Med Genet A 136:31-37

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