Research Topics
Genomes and Genes | K KutscheSummaryAffiliation: University of Hamburg Country: Germany Publications
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Publications
Characterization of breakpoint sequences of five rearrangements in L1CAM and ABCD1 (ALD) genesKerstin 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...- 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) syndromeIsabella 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... - Microphthalmia with linear skin defects syndrome (MLS): a male with a mosaic paracentric inversion of XpK Kutsche
Institut fur Humangenetik, Universitatsklinikum Hamburg Eppendorf, Hamburg, Germany
Cytogenet Genome Res 99:297-302. 2002.... - The mouse Arhgef6 gene: cDNA sequence, expression analysis, and chromosome assignmentK 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... - Cloning and characterization of the breakpoint regions of a chromosome 11;18 translocation in a patient with hamartoma of the retinal pigment epitheliumK 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... - Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndromeA L Schulz
Institut fur Humangenetik, Universitatsklinikum Hamburg Eppendorf, Hamburg, Germany
Clin Genet 73:62-70. 2008.... - Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1DH 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... - Mutations in ARHGEF6, encoding a guanine nucleotide exchange factor for Rho GTPases, in patients with X-linked mental retardationK 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... - Extensive molecular genetic analysis of the 3p14.3 region in patients with Zimmermann-Laband syndromeBenjamin Abo-Dalo
Institut fur Humangenetik, Universitatsklinikum Hamburg Eppendorf, Hamburg, Germany
Am J Med Genet A 143:2668-74. 2007.... 
Goltz-Gorlin (focal dermal hypoplasia) and the microphthalmia with linear skin defects (MLS) syndrome: no evidence of genetic overlapMay 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...- Disruption of the PDGFB gene in a 1;22 translocation patient does not cause Costello syndromeMarketa 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... - A new gene family (FAM9) of low-copy repeats in Xp22.3 expressed exclusively in testis: implications for recombinations in this regionIsabel Martinez-Garay
Institut fur Humangenetik, Universitatsklinikum Hamburg Eppendorf, Germany
Genomics 80:259-67. 2002.... - No mutation in the gene for Noonan syndrome, PTPN11, in 18 patients with Costello syndromeBirte Tröger
Am J Med Genet A 121:82-4. 2003 - AlphaPIX Rho GTPase guanine nucleotide exchange factor regulates lymphocyte functions and antigen receptor signalingKarine 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... - Refinement and delineation of the breakpoint regions of a chromosome 1;22 translocation in a patient with Costello syndromeZoltán Maróti
Am J Med Genet 109:234-7. 2002 - Candidate loci for Zimmermann-Laband syndrome at 3p14.3Hyung 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.... - Mutations of the mitochondrial holocytochrome c-type synthase in X-linked dominant microphthalmia with linear skin defects syndromeIsabella 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... - 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 regionsMargarita 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... - PAK4 and alphaPIX determine podosome size and number in macrophages through localized actin regulationAlexandra 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... - No mutation in genes of the WNT signaling pathway in patients with Zimmermann-Laband syndromeBenjamin Abo-Dalo
Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany
Clin Dysmorphol 17:181-5. 2008 - Disruption of neurexin 1 associated with autism spectrum disorderHyung 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.... - Mono-allelic expression of the IGF-I receptor does not affect IGF responses in human fibroblastsElke Hammer
Children's Hospital, University of Hamburg 20246 Hamburg, Germany
Eur J Endocrinol 151:521-9. 2004.... - AlphaPIX associates with calpain 4, the small subunit of calpain, and has a dual role in integrin-mediated cell spreadingGeorg 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... - 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... - Novel mutations in BCOR in three patients with oculo-facio-cardio-dental syndrome, but none in Lenz microphthalmia syndromeDenise Horn
Institut fur Medizinische Genetik, Charite, Campus Virchow Klinikum, Berlin, Germany
Eur J Hum Genet 13:563-9. 2005.... - SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndromeMartin Zenker
J Med Genet 44:651-6. 2007..These findings corroborate that, despite being caused by gain-of-function mutations in molecules belonging to the same pathway, NS and CFCS scarcely overlap genotypically... - Interaction of alphaPIX (ARHGEF6) with beta-parvin (PARVB) suggests an involvement of alphaPIX in integrin-mediated signalingGeorg Rosenberger
Institut fur Humangenetik, Universitatsklinikum Hamburg Eppendorf, Butenfeld 42, 22529 Hamburg, Germany
Hum Mol Genet 12:155-67. 2003.... - The novel centrosomal associated protein CEP55 is present in the spindle midzone and the midbodyIsabel 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... - A two base pair deletion in the PQBP1 gene is associated with microphthalmia, microcephaly, and mental retardationIsabel 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.... - AlphaPIX and betaPIX and their role in focal adhesion formationGeorg Rosenberger
, , 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...