Karin Buiting

Summary

Affiliation: University of Duisburg-Essen
Country: Germany

Publications

  1. ncbi 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
  2. pmc Practice guidelines for the molecular analysis of Prader-Willi and Angelman syndromes
    Simon C Ramsden
    National Genetics Reference Laboratory Manchester, Saint Mary s Hospital, Hathersage Road, Manchester M13OJH, UK
    BMC Med Genet 11:70. 2010
  3. doi Prader-Willi syndrome and Angelman syndrome
    Karin Buiting
    Institute of Human Genetics at the University Hospital Essen, Essen, Germany
    Am J Med Genet C Semin Med Genet 154:365-76. 2010
  4. doi Clinical features of maternal uniparental disomy 14 in patients with an epimutation and a deletion of the imprinted DLK1/GTL2 gene cluster
    Karin Buiting
    Institut fur Humangenetik, Universitatsklinikum Essen, Essen, Germany
    Hum Mutat 29:1141-6. 2008
  5. ncbi 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
  6. pmc A paternal deletion of MKRN3, MAGEL2 and NDN does not result in Prader-Willi syndrome
    Deniz Kanber
    Institut fur Humangenetik, Universitatsklinikum Essen, Essen, Germany
    Eur J Hum Genet 17:582-90. 2009
  7. ncbi 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
  8. ncbi 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
  9. pmc The molecular function and clinical phenotype of partial deletions of the IGF2/H19 imprinting control region depends on the spatial arrangement of the remaining CTCF-binding sites
    Jasmin Beygo
    Institut fur Humangenetik, Universitatsklinikum Essen, Essen, Germany
    Hum Mol Genet 22:544-57. 2013
  10. ncbi 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

Collaborators

Detail Information

Publications30

  1. ncbi 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...
  2. pmc Practice guidelines for the molecular analysis of Prader-Willi and Angelman syndromes
    Simon C Ramsden
    National Genetics Reference Laboratory Manchester, Saint Mary s Hospital, Hathersage Road, Manchester M13OJH, UK
    BMC Med Genet 11:70. 2010
    ..Given the diversity of techniques available, there is a need for consensus testing and reporting guidelines...
  3. doi Prader-Willi syndrome and Angelman syndrome
    Karin Buiting
    Institute of Human Genetics at the University Hospital Essen, Essen, Germany
    Am J Med Genet C Semin Med Genet 154:365-76. 2010
    ..The IC consists of two critical elements, which act in cis to regulate imprinting in the whole chromosome 15q11q13 imprinted domain...
  4. doi Clinical features of maternal uniparental disomy 14 in patients with an epimutation and a deletion of the imprinted DLK1/GTL2 gene cluster
    Karin Buiting
    Institut fur Humangenetik, Universitatsklinikum Essen, Essen, Germany
    Hum Mutat 29:1141-6. 2008
    ..These findings demonstrate that the upd(14)mat phenotype is caused by altered expression of genes within this cluster...
  5. ncbi 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...
  6. pmc A paternal deletion of MKRN3, MAGEL2 and NDN does not result in Prader-Willi syndrome
    Deniz Kanber
    Institut fur Humangenetik, Universitatsklinikum Essen, Essen, Germany
    Eur J Hum Genet 17:582-90. 2009
    ..2). This patient is obese and mentally retarded, but does not have PWS. We conclude that a deficiency of MKRN3, MAGEL2 and NDN is not sufficient to cause PWS...
  7. ncbi 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...
  8. ncbi 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
    ....
  9. pmc The molecular function and clinical phenotype of partial deletions of the IGF2/H19 imprinting control region depends on the spatial arrangement of the remaining CTCF-binding sites
    Jasmin Beygo
    Institut fur Humangenetik, Universitatsklinikum Essen, Essen, Germany
    Hum Mol Genet 22:544-57. 2013
    ..Careful characterization of the IC1 microdeletions is therefore needed to predict recurrence risks and phenotypical outcomes...
  10. ncbi 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...
  11. pmc Low frequency of imprinting defects in ICSI children born small for gestational age
    Deniz Kanber
    Institut fur Humangenetik, Universitatsklinikum Essen, Essen, Germany
    Eur J Hum Genet 17:22-9. 2009
    ....
  12. ncbi 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...
  13. ncbi 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...
  14. pmc Expression of SNURF-SNRPN upstream transcripts and epigenetic regulatory genes during human spermatogenesis
    Michaela Wawrzik
    Institut fur Humangenetik, Universitatsklinikum Essen, Germany
    Eur J Hum Genet 17:1463-70. 2009
    ....
  15. ncbi 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
    ....
  16. doi The C15orf2 gene in the Prader-Willi syndrome region is subject to genomic imprinting and positive selection
    Michaela Wawrzik
    Institut fur Humangenetik, Universitatsklinikum Essen, Essen, Germany
    Neurogenetics 11:153-61. 2010
    ..These results indicate that C15orf2 might have an important role in human biology and that a deficiency of C15orf2 might contribute to PWS...
  17. pmc The human retinoblastoma gene is imprinted
    Deniz Kanber
    Institut fur Humangenetik, Universitatsklinikum Essen, Essen, Germany
    PLoS Genet 5:e1000790. 2009
    ..The imprinting of two components of the same pathway indicates that there has been strong evolutionary selection for maternal inhibition of cell proliferation...
  18. doi Imprinting of RB1 (the new kid on the block)
    Karin Buiting
    Institut fur Humangenetik, D 45122 Essen, Germany
    Brief Funct Genomics 9:347-53. 2010
    ..The imprinting of two components of the same pathway indicates that there has been strong evolutionary selection for maternal inhibition of cell proliferation...
  19. ncbi 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...
  20. doi Massive parallel bisulfite sequencing of CG-rich DNA fragments reveals that methylation of many X-chromosomal CpG islands in female blood DNA is incomplete
    Michael Zeschnigk
    Institut fur Humangenetik, Universitatsklinikum Essen, Essen, Germany
    Hum Mol Genet 18:1439-48. 2009
    ..Remarkably, methylation of X-chromosomal CGIs in female blood cells was most often incomplete (25-75%). Such incomplete methylation was mainly found on the X-chromosome, suggesting that it is linked to X-chromosome inactivation...
  21. doi The imprinted NPAP1/C15orf2 gene in the Prader-Willi syndrome region encodes a nuclear pore complex associated protein
    Lisa C Neumann
    Institut fur Humangenetik, Universitatsklinikum Essen, D 45122 Essen, Germany
    Hum Mol Genet 21:4038-48. 2012
    ..These experiments for the first time demonstrate that C15orf2 is part of the NPC or its associated molecular networks. Based on our findings, we propose 'Nuclear pore associated protein 1' as the new name for C15orf2...
  22. 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...
  23. ncbi Esophageal atresia, hypoplasia of zygomatic complex, microcephaly, cup-shaped ears, congenital heart defect, and mental retardation--new MCA/MR syndrome in two affected sibs and a mildly affected mother?
    Dagmar Wieczorek
    Institut fur Humangenetik, Universitatsklinikum Essen, Germany, and Department of Medical Genetics, Addenbrooke s Hospital, Cambridge, UK
    Am J Med Genet A 143:1135-42. 2007
    ..We discuss autosomal dominant inheritance with variable expressivity or mosaicism in the mother as the likely genetic mechanism in this new multiple congenital anomaly/mental retardation (MCA/MR) syndrome...
  24. doi 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...
  25. pmc Human PPP1R26P1 Functions as cis-Repressive Element in Mouse Rb1
    Laura Steenpass
    Institut fur Humangenetik, Universitatsklinikum Essen, Universitat Duisburg Essen, Essen, Germany
    PLoS ONE 8:e74159. 2013
    ..Our results identify human PPP1R26P1 as a cis-repressive element and support a connection between retrotransposition of PPP1R26P1 into human RB1 and the reduced expression of RB1 on the paternal allele. ..
  26. ncbi 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...
  27. ncbi 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
    ....
  28. ncbi Problems in detecting mosaic DNA methylation in Angelman syndrome
    Bernhard Horsthemke
    Eur J Hum Genet 11:913-5. 2003
  29. 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
    ....
  30. ncbi 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...