K Buiting

Summary

Affiliation: University of Essen
Country: Germany

Publications

  1. ncbi request reprint A 5-kb imprinting center deletion in a family with Angelman syndrome reduces the shortest region of deletion overlap to 880 bp
    K Buiting
    Institut fur Humangenetik, Universitatsklinikum Essen, Germany
    Hum Genet 105:665-6. 1999
  2. pmc Epimutations in Prader-Willi and Angelman syndromes: a molecular study of 136 patients with an imprinting defect
    Karin Buiting
    Institut fur Humangenetik, Universitatsklinikum Essen, Essen, Germany
    Am J Hum Genet 72:571-7. 2003
  3. pmc Disruption of the bipartite imprinting center in a family with Angelman syndrome
    K Buiting
    Institut fur Humangenetik, Universitatsklinikum Essen, 45122 Essen, Germany
    Am J Hum Genet 68:1290-4. 2001
  4. ncbi request reprint Imprinting centre deletions in two PWS families: implications for diagnostic testing and genetic counseling
    K Buiting
    Institut fur Humangenetik, Universitatsklinikum Essen, Germany
    Clin Genet 58:284-90. 2000
  5. ncbi request reprint The human gene for the poly(A)-specific ribonuclease (PARN) maps to 16p13 and has a truncated copy in the Prader-Willi/Angelman syndrome region on 15q11-->q13
    K Buiting
    Institut fur Humangenetik, Universitatsklinikum Essen, Germany
    Cytogenet Cell Genet 87:125-31. 1999
  6. ncbi request reprint Identification of a testis-specific gene (C15orf2) in the Prader-Willi syndrome region on chromosome 15
    C Farber
    Institut fur Humangenetik, Universitatsklinikum Essen, Hufelandstrasse 55, Essen, D 45122, Germany
    Genomics 65:174-83. 2000
  7. ncbi request reprint The IC-SNURF-SNRPN transcript serves as a host for multiple small nucleolar RNA species and as an antisense RNA for UBE3A
    M Runte
    Institut fur Humangenetik, Universitatsklinikum Essen, 45122 Essen, Germany
    Hum Mol Genet 10:2687-700. 2001
  8. pmc A putative gene family in 15q11-13 and 16p11.2: possible implications for Prader-Willi and Angelman syndromes
    K Buiting
    Institut fur Humangenetik, Universitatsklinikum Essen, Federal Republic of Germany
    Proc Natl Acad Sci U S A 89:5457-61. 1992
  9. ncbi request reprint The chromosome 15 imprinting centre (IC) region has undergone multiple duplication events and contains an upstream exon of SNRPN that is deleted in all Angelman syndrome patients with an IC microdeletion
    C Farber
    Institut fur Humangenetik, Universitatsklinikum Essen, Hufelandstrasse 55, D 45122 Essen, Germany
    Hum Mol Genet 8:337-43. 1999
  10. ncbi request reprint Expressed copies of the MN7 (D15F37) gene family map close to the common deletion breakpoints in the Prader-Willi/Angelman syndromes
    K Buiting
    Institut fur Humangenetik, Universitatsklinikum Essen, Essen, Germany
    Cytogenet Cell Genet 81:247-53. 1998

Collaborators

Detail Information

Publications31

  1. ncbi request reprint A 5-kb imprinting center deletion in a family with Angelman syndrome reduces the shortest region of deletion overlap to 880 bp
    K Buiting
    Institut fur Humangenetik, Universitatsklinikum Essen, Germany
    Hum Genet 105:665-6. 1999
    ..We have now identified a 5-kb IC deletion in an English AS patient (AS-LO); this represents the smallest microdeletion found in AS and narrows down the shortest region of deletion overlap to 880 bp...
  2. pmc Epimutations in Prader-Willi and Angelman syndromes: a molecular study of 136 patients with an imprinting defect
    Karin Buiting
    Institut fur Humangenetik, Universitatsklinikum Essen, Essen, Germany
    Am J Hum Genet 72:571-7. 2003
    ..These data suggest that this imprinting defect results from a failure to erase the maternal imprint during spermatogenesis...
  3. pmc Disruption of the bipartite imprinting center in a family with Angelman syndrome
    K Buiting
    Institut fur Humangenetik, Universitatsklinikum Essen, 45122 Essen, Germany
    Am J Hum Genet 68:1290-4. 2001
    ..Our findings suggest that the close proximity and/or the correct orientation of the two IC elements are/is necessary for the establishment of a maternal imprint...
  4. ncbi request reprint Imprinting centre deletions in two PWS families: implications for diagnostic testing and genetic counseling
    K Buiting
    Institut fur Humangenetik, Universitatsklinikum Essen, Germany
    Clin Genet 58:284-90. 2000
    ..The silent transmission of PWS IC deletions through the female germline and the occurrence of neutral microdeletions close to the IC can impose considerable problems on diagnostic testing and genetic counselling in affected families...
  5. ncbi request reprint The human gene for the poly(A)-specific ribonuclease (PARN) maps to 16p13 and has a truncated copy in the Prader-Willi/Angelman syndrome region on 15q11-->q13
    K Buiting
    Institut fur Humangenetik, Universitatsklinikum Essen, Germany
    Cytogenet Cell Genet 87:125-31. 1999
    ..2. Although PARN and F37 gene sequences are present on 15q and 16p, our data suggest that the synteny of these loci is the result of independent genetic events...
  6. ncbi request reprint Identification of a testis-specific gene (C15orf2) in the Prader-Willi syndrome region on chromosome 15
    C Farber
    Institut fur Humangenetik, Universitatsklinikum Essen, Hufelandstrasse 55, Essen, D 45122, Germany
    Genomics 65:174-83. 2000
    ..By zoo-blot analysis, we found related sequences in DNA from other primates, but not in nonprimate DNA. We conclude that C15orf2 may play a role in primate spermatogenesis...
  7. ncbi request reprint The IC-SNURF-SNRPN transcript serves as a host for multiple small nucleolar RNA species and as an antisense RNA for UBE3A
    M Runte
    Institut fur Humangenetik, Universitatsklinikum Essen, 45122 Essen, Germany
    Hum Mol Genet 10:2687-700. 2001
    ..As we have not obtained any evidence for other genes in this region, which, from the mouse data appears to be critical for the neonatal Prader-Willi syndrome phenotype, a lack of these snoRNAs may be causally involved in this disease...
  8. pmc A putative gene family in 15q11-13 and 16p11.2: possible implications for Prader-Willi and Angelman syndromes
    K Buiting
    Institut fur Humangenetik, Universitatsklinikum Essen, Federal Republic of Germany
    Proc Natl Acad Sci U S A 89:5457-61. 1992
    ..The presence of multiple copies of the MN7 gene family in proximal 15q may conceivably be related to the instability of this region and thus to the etiology of associated disorders...
  9. ncbi request reprint The chromosome 15 imprinting centre (IC) region has undergone multiple duplication events and contains an upstream exon of SNRPN that is deleted in all Angelman syndrome patients with an IC microdeletion
    C Farber
    Institut fur Humangenetik, Universitatsklinikum Essen, Hufelandstrasse 55, D 45122 Essen, Germany
    Hum Mol Genet 8:337-43. 1999
    ..We conclude that elements of the IC region have undergone multiple duplication events and that u5 or a sequence close by may play a role in maternal imprinting...
  10. ncbi request reprint Expressed copies of the MN7 (D15F37) gene family map close to the common deletion breakpoints in the Prader-Willi/Angelman syndromes
    K Buiting
    Institut fur Humangenetik, Universitatsklinikum Essen, Essen, Germany
    Cytogenet Cell Genet 81:247-53. 1998
    ..The close proximity of the D15F37 loci and the deletion breakpoints suggests that the common deletions arise by unequal crossover events at or near these loci...
  11. ncbi request reprint Comprehensive methylation analysis in typical and atypical PWS and AS patients with normal biparental chromosomes 15
    M Runte
    , , Essen, Germany
    Eur J Hum Genet 9:519-26. 2001
    ..In some cases, these changes may reflect incomplete imprint spreading...
  12. ncbi request reprint Imprinting defects on human chromosome 15
    B Horsthemke
    Institut fur Humangenetik, Universitatsklinikum Essen, Essen, Germany
    Cytogenet Genome Res 113:292-9. 2006
    ..In the majority of patients with an imprinting defect, the incorrect imprint has arisen without a DNA sequence change, possibly as the result of stochastic errors of the imprinting process or the effect of exogenous factors...
  13. ncbi request reprint Identification of novel exons 3' to the human SNRPN gene
    K Buiting
    Institut fur Humangenetik, Universitatsklinikum Essen, Germany
    Genomics 40:132-7. 1997
    ....
  14. ncbi request reprint Imprint switching on human chromosome 15 may involve alternative transcripts of the SNRPN gene
    B Dittrich
    Institut fur Humangenetik, Universitatsklinikum Essen, Germany
    Nat Genet 14:163-70. 1996
    ..This suggests that imprint switching on human chromosome 15 may involve alternative SNRPN transcripts...
  15. doi request reprint Malignant melanoma and Wiedemann-Beckwith syndrome in childhood
    E Livingstone
    Department of Dermatology, University Hospital Duisburg Essen, Essen, Germany
    Klin Padiatr 222:388-90. 2010
    ..Genetic analyses of the patient's blood showed hypermethylation at the H19 locus on chromosome 11p. The (epi)genetic changes of the WBS locus might have played a role in the pathogenesis of melanoma development...
  16. ncbi request reprint The murine Ext1 gene shows a high level of sequence similarity with its human homologue and is part of a conserved linkage group on chromosome 15
    D R Lohmann
    Institut fur Humangenetik, Universitatsklinikum Essen, Germany
    Cytogenet Cell Genet 76:164-6. 1997
    ..55 cM between D15Mit143 and D15Mit153 on mouse chromosome 15. Therefore, Ext1 is part of an evolutionarily conserved linkage group including SDC2/Hspg1, TRHR/Trhr, EXT1/Ext1, MYC/Myc, and TG/Tgn...
  17. ncbi request reprint Somatic mosaicism for maternal uniparental disomy 15 in a girl with Prader-Willi syndrome: confirmation by cell cloning and identification of candidate downstream genes
    Bernhard Horsthemke
    Institut fur Humangenetik, Universitatsklinikum Essen, Hufelandstrasse 55, D 45122 Essen, Germany
    Hum Mol Genet 12:2723-32. 2003
    ....
  18. ncbi request reprint Light optical precision measurements of the active and inactive Prader-Willi syndrome imprinted regions in human cell nuclei
    Joachim Rauch
    Kirchhoff Institute of Physics, University of Heidelberg, Im Neuenheimer Feld 227, D 69120 Heidelberg, Germany
    Differentiation 76:66-82. 2008
    ..The possibilities to achieve this goal are discussed...
  19. ncbi request reprint Atypical Angelman syndrome with macrocephaly due to a familial imprinting center deletion
    Anne Ronan
    Hunter Genetics Unit, Waratah, NSW, Australia
    Am J Med Genet A 146:78-82. 2008
    ....
  20. pmc Maintenance of imprinting and nuclear architecture in cycling cells
    Kathrin Teller
    Department of Biology II, Ludwig Maximilians University, Grosshadernerstrasse 2, 82152 Planegg Martinsried, Germany
    Proc Natl Acad Sci U S A 104:14970-5. 2007
    ....
  21. ncbi request reprint C15orf2 and a novel noncoding transcript from the Prader-Willi/Angelman syndrome region show monoallelic expression in fetal brain
    Karin Buiting
    Institut fur Humangenetik, Universitatsklinikum Essen, Hufelandstrasse 55, 45122 Essen, Germany
    Genomics 89:588-95. 2007
    ..Reinvestigation of C15orf2 revealed that this gene is also expressed in fetal brain and that expression in this tissue is monoallelic. We conclude that PWRN1 and C15orf2 may play a role in PWS...
  22. ncbi request reprint Is there a higher incidence of maternal uniparental disomy 14 [upd(14)mat]? Detection of 10 new patients by methylation-specific PCR
    Diana Mitter
    Institut fur Humangenetik, Universitatsklinikum Essen, Essen, Germany
    Am J Med Genet A 140:2039-49. 2006
    ....
  23. ncbi request reprint Identification of cis- and trans-acting factors possibly modifying the risk of epimutations on chromosome 15
    Corinna Zogel
    Institut fur Humangenetik, Universitatsklinikum Essen, Essen, Germany
    Eur J Hum Genet 14:752-8. 2006
    ..028). Our findings suggest that women with the IC haplotype H-AS3 or homozygosity for the MTHFR 677C>T variant may have an increased risk of conceiving a child with an imprinting defect, although the absolute risk is low...
  24. ncbi request reprint Deletion analysis of the imprinting center region in patients with Angelman syndrome and Prader-Willi syndrome by real-time quantitative PCR
    Gordana Raca
    Department of Human Genetics, University of Chicago, Chicago, IL 60637, USA
    Genet Test 8:387-94. 2004
    ..To date we have tested, on a clinical basis, five patients with either Angelman or Prader-Willi syndrome in whom an imprinting center defect was implicated and found a deletion in one patient that was determined to be familial...
  25. ncbi request reprint Somatic mosaicism in patients with Angelman syndrome and an imprinting defect
    Hülya Nazlican
    Institut fur Humangenetik, Universitatsklinikum Essen, Hufelandtrasse 55, G 45122 Essen, Germany
    Hum Mol Genet 13:2547-55. 2004
    ..In conclusion, we suggest that the role of mosaic imprinting defects in mental retardation is underestimated...
  26. ncbi request reprint SNURF-SNRPN and UBE3A transcript levels in patients with Angelman syndrome
    Maren Runte
    Institut fur Humangenetik, Universitaetsklinikum Essen, Hufelandstrasse 55, 45122 Essen, Germany
    Hum Genet 114:553-61. 2004
    ..Our findings are compatible with the assumption that imprinted UBE3A expression is regulated through the SNURF-SNRPN sense- UBE3A antisense transcript...
  27. ncbi request reprint Exclusion of the C/D box snoRNA gene cluster HBII-52 from a major role in Prader-Willi syndrome
    Maren Runte
    Institut fur Humangenetik, Universitatsklinikum Essen, Hufelandstrasse 55, 45122, Essen, Germany
    Hum Genet 116:228-30. 2005
    ..However, we cannot exclude the possibility that the loss of HBII-52 has a phenotypic effect when accompanied by the loss of function of other genes in 15q11-q13...
  28. ncbi request reprint IGF2/H19 hypomethylation in Silver-Russell syndrome and isolated hemihypoplasia
    Michael Zeschnigk
    Institut fur Humangenetik, Universitatsklinikum Essen, Essen, Germany
    Eur J Hum Genet 16:328-34. 2008
    ..Furthermore, we show that methylation analysis by QAMA and MLPA is more sensitive in detecting ICR1 hypomethylation than Southern blot analysis of CTS3...
  29. doi request reprint Genomic imprinting and imprinting defects in humans
    Bernhard Horsthemke
    Institut fur Humangenetik, Universitatsklinikum Essen, Hufelandstrasse 55, 45122 Essen, Germany
    Adv Genet 61:225-46. 2008
    ..IC mutations affect the establishment or maintenance of genomic imprints and hence the expression of all imprinted genes controlled by this IC. Imprinting defects play a causal role in several recognizable syndromes...
  30. doi request reprint Mutations in the cyclin family member FAM58A cause an X-linked dominant disorder characterized by syndactyly, telecanthus and anogenital and renal malformations
    Sheila Unger
    Institute of Human Genetics, University of Freiburg, Freiburg, D 79106 Freiburg, Germany
    Nat Genet 40:287-9. 2008
    ..Using array CGH, qPCR and sequence analysis, we found causative mutations in FAM58A on Xq28 in all affected individuals, suggesting an X-linked dominant inheritance pattern for this recognizable syndrome...
  31. ncbi request reprint Problems in detecting mosaic DNA methylation in Angelman syndrome
    Bernhard Horsthemke
    Eur J Hum Genet 11:913-5. 2003