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