Karl Heinz Grzeschik

Summary

Affiliation: Philipps University
Country: Germany

Publications

  1. pmc Human GLI3 intragenic conserved non-coding sequences are tissue-specific enhancers
    Amir Ali Abbasi
    Institute of Human Genetics, Philipps University, Marburg, Germany
    PLoS ONE 2:e366. 2007
  2. pmc Involvement of GTA protein NC2beta in neuroblastoma pathogenesis suggests that it physiologically participates in the regulation of cell proliferation
    Cinzia Di Pietro
    Dipartimento di Scienze Biomediche, Sezione di Biologia generale, Biologia Cellulare, Genetica Molecolare G Sichel, Unità di Biologia Genomica e dei Sistemi Complessi, Genetica, Bioinformatica, Universita di Catania, 95123 Catania, Italy
    Mol Cancer 7:52. 2008
  3. pmc Synpolydactyly and HOXD13 polyalanine repeat: addition of 2 alanine residues is without clinical consequences
    Sajid Malik
    Zentrum für Humangenetik, Philipps Universitat Marburg, Bahnhofstr, 7, 35037 Marburg, Germany
    BMC Med Genet 8:78. 2007
  4. ncbi request reprint Deficiency of PORCN, a regulator of Wnt signaling, is associated with focal dermal hypoplasia
    Karl Heinz Grzeschik
    Department of Human Genetics, University of Marburg, Bahnhofstr 7, 35033 Marburg, Germany
    Nat Genet 39:833-5. 2007
  5. ncbi request reprint Ultraconserved non-coding sequence element controls a subset of spatiotemporal GLI3 expression
    Zissis Paparidis
    Institute of Human Genetics, Philipps University, Bahnhofstrasse 7, D35037 Marburg, Germany
    Dev Growth Differ 49:543-53. 2007
  6. doi request reprint Donor dominance cures CHILD nevus
    Arne König
    Department of Dermatology, Philipp University, Deutschhausstrasse 9, Marburg, Germany
    Dermatology 220:340-5. 2010
  7. ncbi request reprint A novel type of autosomal recessive syndactyly: clinical and molecular studies in a family of Pakistani origin
    Sajid Malik
    Zentrum für Humangenetik, Philipps Universitat Marburg, Marburg, Germany
    Am J Med Genet A 126:61-7. 2004
  8. ncbi request reprint Evidence for clinical and genetic heterogeneity of syndactyly type I: the phenotype of second and third toe syndactyly maps to chromosome 3p21.31
    Sajid Malik
    Zentrum für Humangenetik, Philipps Universitat Marburg, Bahnhofstr 7, 35037 Marburg, Germany
    Eur J Hum Genet 13:1268-74. 2005
  9. doi request reprint Genotype-phenotype correlations emerging from the identification of missense mutations in MBTPS2
    Dorothea Bornholdt
    Institut fuer Humangenetik, Philipps Universitaet, Marburg, Germany
    Hum Mutat 34:587-94. 2013
  10. ncbi request reprint Autosomal recessive mesoaxial synostotic syndactyly with phalangeal reduction maps to chromosome 17p13.3
    Sajid Malik
    Zentrum für Humangenetik, Philipps Universitat Marburg, Bahnhofstr 7, Marburg, Germany
    Am J Med Genet A 134:404-8. 2005

Collaborators

Detail Information

Publications26

  1. pmc Human GLI3 intragenic conserved non-coding sequences are tissue-specific enhancers
    Amir Ali Abbasi
    Institute of Human Genetics, Philipps University, Marburg, Germany
    PLoS ONE 2:e366. 2007
    ....
  2. pmc Involvement of GTA protein NC2beta in neuroblastoma pathogenesis suggests that it physiologically participates in the regulation of cell proliferation
    Cinzia Di Pietro
    Dipartimento di Scienze Biomediche, Sezione di Biologia generale, Biologia Cellulare, Genetica Molecolare G Sichel, Unità di Biologia Genomica e dei Sistemi Complessi, Genetica, Bioinformatica, Universita di Catania, 95123 Catania, Italy
    Mol Cancer 7:52. 2008
    ..This complexity contrasts with the simple mechanical role that these proteins are believed to perform and suggests a still uncharacterized participation to important biological functions, such as the control of cell proliferation...
  3. pmc Synpolydactyly and HOXD13 polyalanine repeat: addition of 2 alanine residues is without clinical consequences
    Sajid Malik
    Zentrum für Humangenetik, Philipps Universitat Marburg, Bahnhofstr, 7, 35037 Marburg, Germany
    BMC Med Genet 8:78. 2007
    ..It has been suggested that expansions < or = 6 alanine residues go without medical attention, as no such expansion has ever been reported with the SPD1 phenotype...
  4. ncbi request reprint Deficiency of PORCN, a regulator of Wnt signaling, is associated with focal dermal hypoplasia
    Karl Heinz Grzeschik
    Department of Human Genetics, University of Marburg, Bahnhofstr 7, 35033 Marburg, Germany
    Nat Genet 39:833-5. 2007
    ..The findings implicate FDH as a developmental disorder caused by a deficiency in PORCN...
  5. ncbi request reprint Ultraconserved non-coding sequence element controls a subset of spatiotemporal GLI3 expression
    Zissis Paparidis
    Institute of Human Genetics, Philipps University, Bahnhofstrasse 7, D35037 Marburg, Germany
    Dev Growth Differ 49:543-53. 2007
    ..Time, location, and quantity of reporter gene expression are congruent with part of the pattern previously reported for endogenous GLI3 transcription...
  6. doi request reprint Donor dominance cures CHILD nevus
    Arne König
    Department of Dermatology, Philipp University, Deutschhausstrasse 9, Marburg, Germany
    Dermatology 220:340-5. 2010
    ..Patients suffer from an inflammatory nevus that covers large areas, predominantly of one side of the body, with a sharp midline demarcation. Treatment of CHILD nevus is notoriously difficult...
  7. ncbi request reprint A novel type of autosomal recessive syndactyly: clinical and molecular studies in a family of Pakistani origin
    Sajid Malik
    Zentrum für Humangenetik, Philipps Universitat Marburg, Marburg, Germany
    Am J Med Genet A 126:61-7. 2004
    ..We show that the phenotype in our family is not linked to chromosomal regions 2q34-q36, 2q31, and 6q22-q23 encompassing loci for syndactyly types I, II, and III...
  8. ncbi request reprint Evidence for clinical and genetic heterogeneity of syndactyly type I: the phenotype of second and third toe syndactyly maps to chromosome 3p21.31
    Sajid Malik
    Zentrum für Humangenetik, Philipps Universitat Marburg, Bahnhofstr 7, 35037 Marburg, Germany
    Eur J Hum Genet 13:1268-74. 2005
    ..20 Mb. Since the same phenotype appears not to be linked to this locus in a German family, we predict genetic heterogeneity in zygodactyly and propose to designate the 3p21.31 locus as ZD1 (i.e., zygodactyly 1)...
  9. doi request reprint Genotype-phenotype correlations emerging from the identification of missense mutations in MBTPS2
    Dorothea Bornholdt
    Institut fuer Humangenetik, Philipps Universitaet, Marburg, Germany
    Hum Mutat 34:587-94. 2013
    ....
  10. ncbi request reprint Autosomal recessive mesoaxial synostotic syndactyly with phalangeal reduction maps to chromosome 17p13.3
    Sajid Malik
    Zentrum für Humangenetik, Philipps Universitat Marburg, Bahnhofstr 7, Marburg, Germany
    Am J Med Genet A 134:404-8. 2005
    ....
  11. pmc Human intronic enhancers control distinct sub-domains of Gli3 expression during mouse CNS and limb development
    Amir A Abbasi
    Department of Human Genetics, Philipps Universitat Marburg, 35037 Marburg, Germany
    BMC Dev Biol 10:44. 2010
    ..From these studies it has emerged, that Gli3 expression must be subject to a tight spatiotemporal regulation. However, the genetic mechanisms and the cis-acting elements controlling the expression of Gli3 remained largely unknown...
  12. ncbi request reprint CHILD syndrome in 3 generations: the importance of mild or minimal skin lesions
    Mario Bittar
    Department of Dermatology and Center of Human Genetics, University of Marburg, Marburg, Germany
    Arch Dermatol 142:348-51. 2006
    ..We present here a family with mild features of CHILD syndrome in 3 generations. Molecular analysis was used to confirm the diagnosis...
  13. ncbi request reprint Human limb malformations; an approach to the molecular basis of development
    Karl Heinz Grzeschik
    Institut fuer Humangenetik der Philipps Universitaet, Marburg, Deutschland
    Int J Dev Biol 46:983-91. 2002
    ....
  14. pmc An insight into the phylogenetic history of HOX linked gene families in vertebrates
    Amir Ali Abbasi
    Institute of Human Genetics, Philipps University, Bahnhofstrasse 7 D35037 Marburg, Germany
    BMC Evol Biol 7:239. 2007
    ..This would imply that the constituent genes including the HOX clusters reflect the architecture of a single ancestral block (before vertebrate origin) where all of these genes were linked in a single copy...
  15. ncbi request reprint Spectrum of the acrocallosal syndrome
    Rainer Koenig
    Department of Human Genetics, Johann Wolfgang Goethe University, Frankfurt, Germany
    Am J Med Genet 108:7-11. 2002
    ..Cranial cysts were also seen in 10/34 published cases of ACS. Thus, intracerebral cysts are a common finding in ACS and may serve in differentiating ACS from Greig cephalopolysyndactyly syndrome...
  16. pmc IFAP syndrome is caused by deficiency in MBTPS2, an intramembrane zinc metalloprotease essential for cholesterol homeostasis and ER stress response
    Frank Oeffner
    Department of Human Genetics, Philipps Universitat, Marburg 35037, Germany
    Am J Hum Genet 84:459-67. 2009
    ..Our findings indicate that the phenotypic expression of IFAP syndrome is quantitatively related to a reduced function of a key cellular regulatory system affecting cholesterol homeostasis and ability to cope with ER stress...
  17. ncbi request reprint Tandem pore domain K(+)-channel TASK-3 (KCNK9) and idiopathic absence epilepsies
    Colette Kananura
    Institute of Human Genetics, University Hospital, Rheinische Friedrich Wilhelms University of Bonn, Bonn, Germany
    Am J Med Genet 114:227-9. 2002
    ..Accordingly, genetic variation of the TASK-3 coding region does not play a major role in the etiology of idiopathic absence epilepsies...
  18. doi request reprint Congenital, low penetrance lymphedema of lower limbs maps to chromosome 6q16.2-q22.1 in an inbred Pakistani family
    Sajid Malik
    Zentrum für Humangenetik, Philipps Universitat Marburg, Bahnhofstr 7, 35037, Marburg, Germany
    Hum Genet 123:197-205. 2008
    ..Our study provides an evidence of a second locus for lymphedema type I. The discovery of the underlying gene could be helpful for the understanding of this heterogeneous hereditary condition...
  19. ncbi request reprint Reduced penetrance in a family with X-linked dominant chondrodysplasia punctata
    Yorck Hellenbroich
    Institut fur Humangenetik, Universitat zu Lubeck, Ratzeburger Allee 160, 23538 Lubeck, Germany
    Eur J Med Genet 50:392-8. 2007
    ..Surprisingly, the mother of our fetus carries the same mutation without having any signs of CDPX2. X-inactivation studies did not reveal any evidence of skewing neither in the mother nor in the fetus...
  20. ncbi request reprint Multiple familial trichoepithelioma caused by mutations in the cylindromatosis tumor suppressor gene
    Aicha Salhi
    Department of Dermatology, University of Algiers, Algiers, Algeria
    Cancer Res 64:5113-7. 2004
    ..Hence, mutations of the tumor suppressor gene CYLD at 16q12-q13 may give rise to familial TE indistinguishable from the phenotype assigned to 9p21...
  21. doi request reprint An Xp11.23 deletion containing PORCN may also cause angioma serpiginosum, a cosmetic skin disease associated with extreme skewing of X-inactivation
    Gunnar Houge
    Eur J Hum Genet 16:1027-8. 2008
  22. pmc Mutations in bone morphogenetic protein receptor 1B cause brachydactyly type A2
    Katarina Lehmann
    Institut fur Medizinische Genetik, Humboldt Universitat, Charite, Augustenburger Platz 1, 13353 Berlin, Germany
    Proc Natl Acad Sci U S A 100:12277-82. 2003
    ..These findings imply that both mutations identified in human BMPR1B affect cartilage formation in a dominant-negative manner...
  23. pmc Human chromosome 7: DNA sequence and biology
    Stephen W Scherer
    Department of Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, Ontario, Canada, M5G 1X8
    Science 300:767-72. 2003
    ..This approach enabled the discovery of candidate genes for developmental diseases including autism...
  24. ncbi request reprint A novel missense mutation of NSDHL in an unusual case of CHILD syndrome showing bilateral, almost symmetric involvement
    Arne König
    Department of Dermatology, Philipp University, Deutchhausstrasse 9, D 35033 Marburg, Germany
    J Am Acad Dermatol 46:594-6. 2002
    ..Apparently, the effect of random X-inactivation is responsible for different patterns of cutaneous involvement in female carriers of NSDHL mutations...
  25. doi request reprint Conradi-Hünermann-Happle syndrome (X-linked dominant chondrodysplasia punctata) confirmed by plasma sterol and mutation analysis
    Annette Kolb-Mäurer
    Department of Dermatology, University of Wurzburg, Josef Schneider Strasse 2, Wurzburg, Germany
    Acta Derm Venereol 88:47-51. 2008
    ..We suggest that plasma sterol analysis is a reliable method of establishing the diagnosis of Conradi-Hünermann-Happle syndrome, even in patients with less striking phenotypical changes beyond infancy...
  26. ncbi request reprint The elastin gene is disrupted in a family with a balanced translocation t(7;16)(q11.23;q13) associated with a variable expression of the Williams-Beuren syndrome
    Hans Christoph Duba
    Institut fur Medizinische Biologie und Humangenetik der Universitat Innsbruck, A 6020 Innsbruck, Austria
    Eur J Hum Genet 10:351-61. 2002
    ....