K Kutsche

Summary

Affiliation: University of Hamburg
Country: Germany

Publications

  1. ncbi request reprint Characterization of breakpoint sequences of five rearrangements in L1CAM and ABCD1 (ALD) genes
    Kerstin Kutsche
    Institut fur Humangenetik, Universitatsklinikum Hamburg Eppendorf, Hamburg, Germany
    Hum Mutat 19:526-35. 2002
  2. ncbi request reprint Mother and daughter with a terminal Xp deletion: implication of chromosomal mosaicism and X-inactivation in the high clinical variability of the microphthalmia with linear skin defects (MLS) syndrome
    Isabella Wimplinger
    Institut fur Humangenetik, Universitatsklinikum Hamburg Eppendorf, Campus Forschung, Gebäude 146, Martinistrasse 52, D 20246 Hamburg, Germany
    Eur J Med Genet 50:421-31. 2007
  3. ncbi request reprint Microphthalmia with linear skin defects syndrome (MLS): a male with a mosaic paracentric inversion of Xp
    K Kutsche
    Institut fur Humangenetik, Universitatsklinikum Hamburg Eppendorf, Hamburg, Germany
    Cytogenet Genome Res 99:297-302. 2002
  4. ncbi request reprint The mouse Arhgef6 gene: cDNA sequence, expression analysis, and chromosome assignment
    K Kutsche
    Institut fur Humangenetik, Universitatsklinikum Hamburg Eppendorf, Hamburg, Germany
    Cytogenet Cell Genet 95:196-201. 2001
  5. ncbi request reprint Cloning and characterization of the breakpoint regions of a chromosome 11;18 translocation in a patient with hamartoma of the retinal pigment epithelium
    K Kutsche
    Institut fur Humangenetik, Universitatsklinikum Hamburg Eppendorf, Hamburg, Germany
    Cytogenet Cell Genet 91:141-7. 2000
  6. ncbi request reprint Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome
    A L Schulz
    Institut fur Humangenetik, Universitatsklinikum Hamburg Eppendorf, Hamburg, Germany
    Clin Genet 73:62-70. 2008
  7. ncbi request reprint Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D
    H Bolz
    Institut fur Humangenetik, Universitatsklinikum Hamburg Eppendorf, Hamburg, Germany
    Nat Genet 27:108-12. 2001
  8. ncbi request reprint Mutations in ARHGEF6, encoding a guanine nucleotide exchange factor for Rho GTPases, in patients with X-linked mental retardation
    K Kutsche
    Institut fur Humangenetik, Universitatsklinikum Hamburg Eppendorf, Hamburg, Germany
    Nat Genet 26:247-50. 2000
  9. ncbi request reprint Extensive molecular genetic analysis of the 3p14.3 region in patients with Zimmermann-Laband syndrome
    Benjamin Abo-Dalo
    Institut fur Humangenetik, Universitatsklinikum Hamburg Eppendorf, Hamburg, Germany
    Am J Med Genet A 143:2668-74. 2007
  10. pmc Goltz-Gorlin (focal dermal hypoplasia) and the microphthalmia with linear skin defects (MLS) syndrome: no evidence of genetic overlap
    May Britt Harmsen
    Institut fur Humangenetik, Universitatsklinikum Hamburg Eppendorf, Hamburg, Germany
    Eur J Hum Genet 17:1207-15. 2009

Collaborators

Detail Information

Publications30

  1. ncbi request reprint Characterization of breakpoint sequences of five rearrangements in L1CAM and ABCD1 (ALD) genes
    Kerstin Kutsche
    Institut fur Humangenetik, Universitatsklinikum Hamburg Eppendorf, Hamburg, Germany
    Hum Mutat 19:526-35. 2002
    ..In conclusion, our results indicate that highly repetitive elements as well as short direct repeats are frequently involved in the formation of ALD and L1CAM gene rearrangements...
  2. ncbi request reprint Mother and daughter with a terminal Xp deletion: implication of chromosomal mosaicism and X-inactivation in the high clinical variability of the microphthalmia with linear skin defects (MLS) syndrome
    Isabella Wimplinger
    Institut fur Humangenetik, Universitatsklinikum Hamburg Eppendorf, Campus Forschung, Gebäude 146, Martinistrasse 52, D 20246 Hamburg, Germany
    Eur J Med Genet 50:421-31. 2007
    ..Nonetheless, a non-random X-inactivation pattern in favor of activity of the wild-type X chromosome in the early blastocyte could also account for the apparent lack of any disease sign in this female...
  3. ncbi request reprint Microphthalmia with linear skin defects syndrome (MLS): a male with a mosaic paracentric inversion of Xp
    K Kutsche
    Institut fur Humangenetik, Universitatsklinikum Hamburg Eppendorf, Hamburg, Germany
    Cytogenet Genome Res 99:297-302. 2002
    ....
  4. ncbi request reprint The mouse Arhgef6 gene: cDNA sequence, expression analysis, and chromosome assignment
    K Kutsche
    Institut fur Humangenetik, Universitatsklinikum Hamburg Eppendorf, Hamburg, Germany
    Cytogenet Cell Genet 95:196-201. 2001
    ..A genomic cosmid clone containing Arhgef6 exons 1 and 2 has been isolated and used for mapping the gene on the mouse X chromosome...
  5. ncbi request reprint Cloning and characterization of the breakpoint regions of a chromosome 11;18 translocation in a patient with hamartoma of the retinal pigment epithelium
    K Kutsche
    Institut fur Humangenetik, Universitatsklinikum Hamburg Eppendorf, Hamburg, Germany
    Cytogenet Cell Genet 91:141-7. 2000
    ..Based on the results of FISH analysis with the PAC clones of this contig, we suggest the occurrence of a complex rearrangement...
  6. ncbi request reprint Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome
    A L Schulz
    Institut fur Humangenetik, Universitatsklinikum Hamburg Eppendorf, Hamburg, Germany
    Clin Genet 73:62-70. 2008
    ....
  7. ncbi request reprint Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D
    H Bolz
    Institut fur Humangenetik, Universitatsklinikum Hamburg Eppendorf, Hamburg, Germany
    Nat Genet 27:108-12. 2001
    ..In an accompanying paper, it is shown that mutations in the mouse ortholog cause disorganization of inner ear stereocilia and deafness in the waltzer mouse...
  8. ncbi request reprint Mutations in ARHGEF6, encoding a guanine nucleotide exchange factor for Rho GTPases, in patients with X-linked mental retardation
    K Kutsche
    Institut fur Humangenetik, Universitatsklinikum Hamburg Eppendorf, Hamburg, Germany
    Nat Genet 26:247-50. 2000
    ..The mutation resulted in preferential skipping of exon 2, predicting a protein lacking 28 amino acids. ARHGEF6 is the eighth MRX gene identified so far and the third such gene to encode a protein that interacts with Rho GTPases...
  9. ncbi request reprint Extensive molecular genetic analysis of the 3p14.3 region in patients with Zimmermann-Laband syndrome
    Benjamin Abo-Dalo
    Institut fur Humangenetik, Universitatsklinikum Hamburg Eppendorf, Hamburg, Germany
    Am J Med Genet A 143:2668-74. 2007
    ....
  10. pmc Goltz-Gorlin (focal dermal hypoplasia) and the microphthalmia with linear skin defects (MLS) syndrome: no evidence of genetic overlap
    May Britt Harmsen
    Institut fur Humangenetik, Universitatsklinikum Hamburg Eppendorf, Hamburg, Germany
    Eur J Hum Genet 17:1207-15. 2009
    ..We conclude that the PORCN mutation detection rate is high in individuals with a clear-cut FDH phenotype and somatic mosaicism can be present in a significant proportion of patients with mild or classic FDH...
  11. ncbi request reprint Disruption of the PDGFB gene in a 1;22 translocation patient does not cause Costello syndrome
    Marketa Sutajova
    Institut fur Humangenetik, Universitatsklinikum Hamburg Eppendorf, Butenfeld 42, 22529 Hamburg, Germany
    Genomics 83:883-92. 2004
    ..We speculate that the biological consequences of the mutant PDGFB allele contributed to the unique disease phenotype of the translocation patient...
  12. ncbi request reprint A new gene family (FAM9) of low-copy repeats in Xp22.3 expressed exclusively in testis: implications for recombinations in this region
    Isabel Martinez-Garay
    Institut fur Humangenetik, Universitatsklinikum Hamburg Eppendorf, Germany
    Genomics 80:259-67. 2002
    ....
  13. ncbi request reprint No mutation in the gene for Noonan syndrome, PTPN11, in 18 patients with Costello syndrome
    Birte Tröger
    Am J Med Genet A 121:82-4. 2003
  14. pmc AlphaPIX Rho GTPase guanine nucleotide exchange factor regulates lymphocyte functions and antigen receptor signaling
    Karine Missy
    Institute of Physiological Chemistry, University of Ulm, Albert Einstein Allee 11, 89081 Ulm, Germany
    Mol Cell Biol 28:3776-89. 2008
    ..These results reveal specific roles for alphaPIX in the immune system and suggest that redundancy with betaPIX precludes a more severe immune phenotype...
  15. ncbi request reprint Refinement and delineation of the breakpoint regions of a chromosome 1;22 translocation in a patient with Costello syndrome
    Zoltán Maróti
    Am J Med Genet 109:234-7. 2002
  16. ncbi request reprint Candidate loci for Zimmermann-Laband syndrome at 3p14.3
    Hyung Goo Kim
    Molecular Neurogenetics Unit, Center for Human Genetic Research, Massachusetts General Hospital Department of Genetics, Harvard Medical School, Boston, Massachusetts, USA
    Am J Med Genet A 143:107-11. 2007
    ....
  17. pmc Mutations of the mitochondrial holocytochrome c-type synthase in X-linked dominant microphthalmia with linear skin defects syndrome
    Isabella Wimplinger
    Institut fur Humangenetik, Universitatsklinikum Hamburg Eppendorf, Butenfeld 42, Hamburg, Germany
    Am J Hum Genet 79:878-89. 2006
    ..In summary, we suggest that disturbance of both OXPHOS and the balance between apoptosis and necrosis, as well as the X-inactivation pattern, may contribute to the variable phenotype observed in patients with MLS...
  18. ncbi request reprint Zimmermann-Laband syndrome associated with a balanced reciprocal translocation t(3;8)(p21.2;q24.3) in mother and daughter: molecular cytogenetic characterization of the breakpoint regions
    Margarita Stefanova
    Department of Medical Genetics, Medical University, Plovdiv, Bulgaria
    Am J Med Genet A 117:289-94. 2003
    ..The 3;8 translocation described here represents a powerful resource to identify the causative gene for ZLS that maps most likely to one of the breakpoints...
  19. ncbi request reprint PAK4 and alphaPIX determine podosome size and number in macrophages through localized actin regulation
    Alexandra Gringel
    Institut für Prophylaxe und Epidemiologie der Kreislaufkrankheiten, Pettenkoferstr, Munchen, Germany
    J Cell Physiol 209:568-79. 2006
    ..In sum, we propose that PAK4 and alphaPIX can induce highly localized changes in actin dynamics and thereby regulate size and number of podosomes in primary human macrophages...
  20. doi request reprint No mutation in genes of the WNT signaling pathway in patients with Zimmermann-Laband syndrome
    Benjamin Abo-Dalo
    Institute of Human Genetics, University Medical Center Hamburg Eppendorf, Hamburg, Germany
    Clin Dysmorphol 17:181-5. 2008
  21. pmc Disruption of neurexin 1 associated with autism spectrum disorder
    Hyung Goo Kim
    Molecular Neurogenetics Unit, Center for Human Genetic Research and Department of Neurology, Massachusetts General Hospital, Harvard Medical School, Boston, MA 02114, USA
    Am J Hum Genet 82:199-207. 2008
    ....
  22. ncbi request reprint Mono-allelic expression of the IGF-I receptor does not affect IGF responses in human fibroblasts
    Elke Hammer
    Children s Hospital, University of Hamburg 20246 Hamburg, Germany
    Eur J Endocrinol 151:521-9. 2004
    ..The expression and regulation of the growth-modulating IGF binding proteins (IGFBPs) have been investigated in serum and fibroblasts of a short girl with mono-allelic loss of the distal long arm of chromosome 15 (15q26.1-qter)...
  23. ncbi request reprint AlphaPIX associates with calpain 4, the small subunit of calpain, and has a dual role in integrin-mediated cell spreading
    Georg Rosenberger
    Institut fur Humangenetik, Universitatsklinikum Hamburg Eppendorf, D 22529 Hamburg, Germany
    J Biol Chem 280:6879-89. 2005
    ..Whereas alphaPIX GEF activity contributes to enhanced formation of cellular protrusions, the GEF-independent association with calpain 4 leads to induction of a yet unknown signaling cascade resulting in cell spreading...
  24. ncbi request reprint HCCS loss-of-function missense mutation in a female with bilateral microphthalmia and sclerocornea: a novel gene for severe ocular malformations?
    Isabella Wimplinger
    Institut fur Humangenetik, Universitatsklinikum Hamburg Eppendorf, Hamburg, Germany
    Mol Vis 13:1475-82. 2007
    ..In addition, we investigated the impact of the p.E159K missense mutation on sorting of HCCS to mitochondria and its functional integrity...
  25. ncbi request reprint Novel mutations in BCOR in three patients with oculo-facio-cardio-dental syndrome, but none in Lenz microphthalmia syndrome
    Denise Horn
    Institut fur Medizinische Genetik, Charite, Campus Virchow Klinikum, Berlin, Germany
    Eur J Hum Genet 13:563-9. 2005
    ....
  26. pmc SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome
    Martin Zenker
    J Med Genet 44:651-6. 2007
    ..Mutations of SOS1, the gene encoding a guanine nucleotide exchange factor for Ras, have been the most recent discoveries in patients with NS, but this gene has not been studied in patients with CFCS...
  27. ncbi request reprint Interaction of alphaPIX (ARHGEF6) with beta-parvin (PARVB) suggests an involvement of alphaPIX in integrin-mediated signaling
    Georg Rosenberger
    Institut fur Humangenetik, Universitatsklinikum Hamburg Eppendorf, Butenfeld 42, 22529 Hamburg, Germany
    Hum Mol Genet 12:155-67. 2003
    ....
  28. ncbi request reprint The novel centrosomal associated protein CEP55 is present in the spindle midzone and the midbody
    Isabel Martinez-Garay
    Institut fur Humangenetik, Universitatsklinikum Hamburg Eppendorf, Butenfeld 42, D 22529 Hamburg, Germany
    Genomics 87:243-53. 2006
    ..Together, these data suggest a possible involvement of CEP55 in centrosome-dependent cellular functions, such as centrosome duplication and/or cell cycle progression, or in the regulation of cytokinesis...
  29. ncbi request reprint A two base pair deletion in the PQBP1 gene is associated with microphthalmia, microcephaly, and mental retardation
    Isabel Martinez-Garay
    Unidad de Genetica, Hospital Universitario La Fe, Departamento de Genetica, Universidad de Valencia, Valencia, Spain
    Eur J Hum Genet 15:29-34. 2007
    ....
  30. ncbi request reprint AlphaPIX and betaPIX and their role in focal adhesion formation
    Georg Rosenberger
    Institut fur Humangenetik, Universitatsklinikum Hamburg Eppendorf, Butenfeld 42, 22529 Hamburg, Germany
    Eur J Cell Biol 85:265-74. 2006
    ..Here, we highlight the recent findings on alpha and betaPIX and their involvement in integrin-dependent signaling and suggest models for the role of PIX proteins during focal adhesion turnover...