Research Topics
Genomes and GenesSpecies | Karin BuitingSummaryAffiliation: University of Duisburg-Essen Country: Germany Publications
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Detail Information
Publications
Deletion analysis of the imprinting center region in patients with Angelman syndrome and Prader-Willi syndrome by real-time quantitative PCRGordana 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...
Practice guidelines for the molecular analysis of Prader-Willi and Angelman syndromesSimon 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...- C15orf2 and a novel noncoding transcript from the Prader-Willi/Angelman syndrome region show monoallelic expression in fetal brainKarin 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... 
Prader-Willi syndrome and Angelman syndromeKarin 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...- Clinical features of maternal uniparental disomy 14 in patients with an epimutation and a deletion of the imprinted DLK1/GTL2 gene clusterKarin 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... - Somatic mosaicism in patients with Angelman syndrome and an imprinting defectHülya 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... - A paternal deletion of MKRN3, MAGEL2 and NDN does not result in Prader-Willi syndromeDeniz 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... - Somatic mosaicism for maternal uniparental disomy 15 in a girl with Prader-Willi syndrome: confirmation by cell cloning and identification of candidate downstream genesBernhard Horsthemke
Institut fur Humangenetik, Universitatsklinikum Essen, Hufelandstrasse 55, D 45122 Essen, Germany
Hum Mol Genet 12:2723-32. 2003.... - IGF2/H19 hypomethylation in Silver-Russell syndrome and isolated hemihypoplasiaMichael 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... - Low frequency of imprinting defects in ICSI children born small for gestational ageDeniz Kanber
Institut fur Humangenetik, Universitatsklinikum Essen, Essen, Germany
Eur J Hum Genet 17:22-9. 2009.... - Identification of cis- and trans-acting factors possibly modifying the risk of epimutations on chromosome 15Corinna Zogel
, , 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... - Expression of SNURF-SNRPN upstream transcripts and epigenetic regulatory genes during human spermatogenesisMichaela Wawrzik
Institut fur Humangenetik, Universitatsklinikum Essen, Germany
Eur J Hum Genet 17:1463-70. 2009.... - SNURF-SNRPN and UBE3A transcript levels in patients with Angelman syndromeMaren 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... - Is there a higher incidence of maternal uniparental disomy 14 [upd(14)mat]? Detection of 10 new patients by methylation-specific PCRDiana Mitter
Institut fur Humangenetik, Universitatsklinikum Essen, Essen, Germany
Am J Med Genet A 140:2039-49. 2006.... - The human retinoblastoma gene is imprintedDeniz 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... - The C15orf2 gene in the Prader-Willi syndrome region is subject to genomic imprinting and positive selectionMichaela 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... - 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... - Exclusion of the C/D box snoRNA gene cluster HBII-52 from a major role in Prader-Willi syndromeMaren 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... - Massive parallel bisulfite sequencing of CG-rich DNA fragments reveals that methylation of many X-chromosomal CpG islands in female blood DNA is incompleteMichael 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... - The imprinted NPAP1/C15orf2 gene in the Prader-Willi syndrome region encodes a nuclear pore complex associated proteinLisa 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... - Epimutations in Prader-Willi and Angelman syndromes: a molecular study of 136 patients with an imprinting defectKarin 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... - 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... - Genomic imprinting and imprinting defects in humansBernhard 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... - Reduced penetrance in a family with X-linked dominant chondrodysplasia punctataYorck 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... - Atypical Angelman syndrome with macrocephaly due to a familial imprinting center deletionAnne Ronan
Hunter Genetics Unit, Waratah, NSW, Australia
Am J Med Genet A 146:78-82. 2008.... - Problems in detecting mosaic DNA methylation in Angelman syndromeBernhard Horsthemke
Eur J Hum Genet 11:913-5. 2003 - Maintenance of imprinting and nuclear architecture in cycling cellsKathrin 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.... - Light optical precision measurements of the active and inactive Prader-Willi syndrome imprinted regions in human cell nucleiJoachim 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...