Pauli, Silke

[["dc.bibliographiccitation.artnumber","e52640"],["dc.bibliographiccitation.issue","12"],["dc.bibliographiccitation.journal","PLoS ONE"],["dc.bibliographiccitation.volume","7"],["dc.contributor.author","Batsukh, Tserendulam"],["dc.contributor.author","Schulz, Yvonne"],["dc.contributor.author","Wolf, Stephan"],["dc.contributor.author","Rabe, Tamara I."],["dc.contributor.author","Oellerich, Thomas"],["dc.contributor.author","Urlaub, Henning"],["dc.contributor.author","Schaefer, Inga-Marie"],["dc.contributor.author","Pauli, Silke"],["dc.date.accessioned","2018-11-07T09:02:12Z"],["dc.date.available","2018-11-07T09:02:12Z"],["dc.date.issued","2012"],["dc.description.abstract","Background: Mutations in the chromodomain helicase DNA binding protein 7 gene (CHD7) lead to CHARGE syndrome, an autosomal dominant multiple malformation disorder. Proteins involved in chromatin remodeling typically act in multiprotein complexes. We previously demonstrated that a part of human CHD7 interacts with a part of human CHD8, another chromodomain helicase DNA binding protein presumably being involved in the pathogenesis of neurodevelopmental (NDD) and autism spectrum disorders (ASD). Because identification of novel CHD7 and CHD8 interacting partners will provide further insights into the pathogenesis of CHARGE syndrome and ASD/NDD, we searched for additional associated polypeptides using the method of stable isotope labeling by amino acids in cell culture (SILAC) in combination with mass spectrometry. Principle findings: The hitherto uncharacterized FAM124B (Family with sequence similarity 124B) was identified as a potential interaction partner of both CHD7 and CHD8. We confirmed the result by co-immunoprecipitation studies and showed a direct binding to the CHD8 part by direct yeast two hybrid experiments. Furthermore, we characterized FAM124B as a mainly nuclear localized protein with a widespread expression in embryonic and adult mouse tissues. Conclusion: Our results demonstrate that FAM124B is a potential interacting partner of a CHD7 and CHD8 containing complex. From the overlapping expression pattern between Chd7 and Fam124B at murine embryonic day E12.5 and the high expression of Fam124B in the developing mouse brain, we conclude that Fam124B is a novel protein possibly involved in the pathogenesis of CHARGE syndrome and neurodevelopmental disorders."],["dc.description.sponsorship","Open-Access-Publikationsfonds 2012"],["dc.identifier.doi","10.1371/journal.pone.0052640"],["dc.identifier.isi","000313158800084"],["dc.identifier.pmid","23285124"],["dc.identifier.purl","https://resolver.sub.uni-goettingen.de/purl?gs-1/8490"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/24622"],["dc.notes.intern","Merged from goescholar"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Public Library Science"],["dc.relation.issn","1932-6203"],["dc.rights","CC BY 2.5"],["dc.rights.uri","https://creativecommons.org/licenses/by/2.5"],["dc.title","Identification and Characterization of FAM124B as a Novel Component of a CHD7 and CHD8 Containing Complex"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dc.type.version","published_version"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","2858"],["dc.bibliographiccitation.issue","14"],["dc.bibliographiccitation.journal","Human Molecular Genetics"],["dc.bibliographiccitation.lastpage","2866"],["dc.bibliographiccitation.volume","19"],["dc.contributor.author","Batsukh, Tserendulam"],["dc.contributor.author","Pieper, Lasse"],["dc.contributor.author","Koszucka, Anna M."],["dc.contributor.author","von Velsen, Nina"],["dc.contributor.author","Hoyer-Fender, Sigrid"],["dc.contributor.author","Elbracht, Miriam"],["dc.contributor.author","Bergman, Jorieke E. H."],["dc.contributor.author","Hoefsloot, Lies H."],["dc.contributor.author","Pauli, Silke"],["dc.date.accessioned","2018-11-07T08:41:21Z"],["dc.date.available","2018-11-07T08:41:21Z"],["dc.date.issued","2010"],["dc.description.abstract","CHARGE syndrome is an autosomal dominant disorder caused in about two-third of cases by mutations in the CHD7 gene. For other genetic diseases e.g. hereditary spastic paraplegia, it was shown that interacting partners are involved in the underlying cause of the disease. These data encouraged us to search for CHD7 binding partners by a yeast two-hybrid library screen and CHD8 was identified as an interacting partner. The result was confirmed by a direct yeast two-hybrid analysis, co-immunoprecipitation studies and by a bimolecular fluorescence complementation assay. To investigate the function of CHD7 missense mutations in the CHD7-CHD8 interacting area on the binding capacity of both proteins, we included three known missense mutations (p.His2096Arg, p.Val2102Ile and p.Gly2108Arg) and one newly identified missense mutation (p.Trp2091Arg) in the CHD7 gene and performed both direct yeast two-hybrid and co-immunoprecipitation studies. In the direct yeast two-hybrid system, the CHD7-CHD8 interaction was disrupted by the missense mutations p.Trp2091Arg, p.His2096Arg and p.Gly2108Arg, whereas in the co-immunoprecipitation studies disruption of the CHD7-CHD8 interaction by the mutations could not be observed. The results lead to the hypothesis that CHD7 and CHD8 proteins are interacting directly and indirectly via additional linker proteins. Disruption of the direct CHD7-CHD8 interaction might change the conformation of a putative large CHD7-CHD8 complex and could be a disease mechanism in CHARGE syndrome."],["dc.description.sponsorship","Medical School of the University of Gottingen"],["dc.identifier.doi","10.1093/hmg/ddq189"],["dc.identifier.isi","000279469100010"],["dc.identifier.pmid","20453063"],["dc.identifier.purl","https://resolver.sub.uni-goettingen.de/purl?gs-1/6228"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/19448"],["dc.notes.intern","Merged from goescholar"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Oxford Univ Press"],["dc.relation.issn","0964-6906"],["dc.rights","Goescholar"],["dc.rights.uri","https://goescholar.uni-goettingen.de/licenses"],["dc.title","CHD8 interacts with CHD7, a protein which is mutated in CHARGE syndrome"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","152"],["dc.bibliographiccitation.issue","1-2"],["dc.bibliographiccitation.journal","Journal of the Neurological Sciences"],["dc.bibliographiccitation.lastpage","154"],["dc.bibliographiccitation.volume","331"],["dc.contributor.author","Schmidt, Holger"],["dc.contributor.author","Kretzschmar, Benedikt"],["dc.contributor.author","Lingor, Paul"],["dc.contributor.author","Pauli, Silke"],["dc.contributor.author","Schramm, Peter"],["dc.contributor.author","Otto, Markus"],["dc.contributor.author","Ohlenbusch, Andreas"],["dc.contributor.author","Brockmann, Knut"],["dc.date.accessioned","2018-11-07T09:21:15Z"],["dc.date.available","2018-11-07T09:21:15Z"],["dc.date.issued","2013"],["dc.description.abstract","Adult-onset Alexander disease (AOAD) is a rare leukoencephalopathy affecting predominantly the brainstem and cervical cord with insidious onset of clinical features. Acute onset is very rare and has yet been described only twice, to our knowledge. We report a 32-year-old hitherto healthy male who, after excessive consumption of alcohol, presented with stroke-like onset of symptoms including rigidospasticity, loss of consciousness, and bulbar dysfunction. MRI features comprised bilateral T2-hyperintensities of frontal white matter and basal ganglia as well as atrophy of medulla oblongata with a peculiar \"tadpole\" appearance, a pattern characteristic of AOAD. Mutation analysis of the GFAP gene revealed a heterozygous de novo 9-bp microduplication in exon 1. Adult Alexander disease may present with stroke-like features. MRI patterns of chronic neurodegenerative conditions may be recognizable even in acute neurological emergencies. (C) 2013 Elsevier B.V. All rights reserved."],["dc.identifier.doi","10.1016/j.jns.2013.05.006"],["dc.identifier.isi","000322415000030"],["dc.identifier.pmid","23706596"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/29072"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Elsevier Science Bv"],["dc.relation.issn","0022-510X"],["dc.title","Acute onset of adult Alexander disease"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","1363"],["dc.bibliographiccitation.issue","11"],["dc.bibliographiccitation.journal","Human Genetics"],["dc.bibliographiccitation.lastpage","1379"],["dc.bibliographiccitation.volume","139"],["dc.contributor.author","Ufartes, Roser"],["dc.contributor.author","Berger, Hanna"],["dc.contributor.author","Till, Katharina"],["dc.contributor.author","Salinas, Gabriela"],["dc.contributor.author","Sturm, Marc"],["dc.contributor.author","Altmüller, Janine"],["dc.contributor.author","Nürnberg, Peter"],["dc.contributor.author","Thiele, Holger"],["dc.contributor.author","Funke, Rudolf"],["dc.contributor.author","Apeshiotis, Neophytos"],["dc.contributor.author","Langen, Hendrik"],["dc.contributor.author","Wollnik, Bernd"],["dc.contributor.author","Borchers, Annette"],["dc.contributor.author","Pauli, Silke"],["dc.date.accessioned","2020-12-10T14:10:38Z"],["dc.date.available","2020-12-10T14:10:38Z"],["dc.date.issued","2020"],["dc.description.abstract","We report truncating de novo variants in specific exons of FBRSL1 in three unrelated children with an overlapping syndromic phenotype with respiratory insufficiency, postnatal growth restriction, microcephaly, global developmental delay and other malformations. The function of FBRSL1 is largely unknown. Interestingly, mutations in the FBRSL1 paralogue AUTS2 lead to an intellectual disability syndrome (AUTS2 syndrome). We determined human FBRSL1 transcripts and describe protein-coding forms by Western blot analysis as well as the cellular localization by immunocytochemistry stainings. All detected mutations affect the two short N-terminal isoforms, which show a ubiquitous expression in fetal tissues. Next, we performed a Fbrsl1 knockdown in Xenopus laevis embryos to explore the role of Fbrsl1 during development and detected craniofacial abnormalities and a disturbance in neurite outgrowth. The aberrant phenotype in Xenopus laevis embryos could be rescued with a human N-terminal isoform, while the long isoform and the N-terminal isoform containing the mutation p.Gln163* isolated from a patient could not rescue the craniofacial defects caused by Fbrsl1 depletion. Based on these data, we propose that the disruption of the validated N-terminal isoforms of FBRSL1 at critical timepoints during embryogenesis leads to a hitherto undescribed complex neurodevelopmental syndrome."],["dc.identifier.doi","10.1007/s00439-020-02175-x"],["dc.identifier.pmid","32424618"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/70825"],["dc.identifier.url","https://mbexc.uni-goettingen.de/literature/publications/184"],["dc.language.iso","en"],["dc.notes.intern","DOI Import GROB-354"],["dc.relation","EXC 2067: Multiscale Bioimaging"],["dc.relation.workinggroup","RG Wollnik"],["dc.rights","CC BY 4.0"],["dc.title","De novo mutations in FBRSL1 cause a novel recognizable malformation and intellectual disability syndrome"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.subtype","original_ja"],["dc.type.version","published_version"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","1392"],["dc.bibliographiccitation.issue","8"],["dc.bibliographiccitation.journal","British Journal of Cancer"],["dc.bibliographiccitation.lastpage","1397"],["dc.bibliographiccitation.volume","112"],["dc.contributor.author","Kratz, Christian P."],["dc.contributor.author","Franke, L."],["dc.contributor.author","Peters, H."],["dc.contributor.author","Kohlschmidt, N."],["dc.contributor.author","Kazmierczak, B."],["dc.contributor.author","Finckh, U."],["dc.contributor.author","Bier, Andrea"],["dc.contributor.author","Eichhorn, B."],["dc.contributor.author","Blank, C."],["dc.contributor.author","Kraus, Cornelia"],["dc.contributor.author","Kohlhase, Juergen"],["dc.contributor.author","Pauli, Silke"],["dc.contributor.author","Wildhardt, G."],["dc.contributor.author","Kutsche, Kerstin"],["dc.contributor.author","Auber, Bernd"],["dc.contributor.author","Christmann, A."],["dc.contributor.author","Bachmann, N."],["dc.contributor.author","Mitter, D."],["dc.contributor.author","Cremer, F. W."],["dc.contributor.author","Mayer, K."],["dc.contributor.author","Daumer-Haas, C."],["dc.contributor.author","Nevinny-Stickel-Hinzpeter, C."],["dc.contributor.author","Oeffner, Frank"],["dc.contributor.author","Schlueter, G."],["dc.contributor.author","Gencik, M."],["dc.contributor.author","Ueberlacker, B."],["dc.contributor.author","Lissewski, Christina"],["dc.contributor.author","Schanze, I."],["dc.contributor.author","Greene, M. H."],["dc.contributor.author","Spix, C."],["dc.contributor.author","Zenker, Martin"],["dc.date.accessioned","2018-11-07T09:58:32Z"],["dc.date.available","2018-11-07T09:58:32Z"],["dc.date.issued","2015"],["dc.description.abstract","Background: Somatic mutations affecting components of the Ras-MAPK pathway are a common feature of cancer, whereas germline Ras pathway mutations cause developmental disorders including Noonan, Costello, and cardio-facio-cutaneous syndromes. These 'RASopathies' also represent cancer-prone syndromes, but the quantitative cancer risks remain unknown. Methods: We investigated the occurrence of childhood cancer including benign and malignant tumours of the central nervous system in a group of 735 individuals with germline mutations in Ras signalling pathway genes by matching their information with the German Childhood Cancer Registry. Results: We observed 12 cases of cancer in the entire RASopathy cohort vs 1.12 expected (based on German population-based incidence rates). This corresponds to a 10.5-fold increased risk of all childhood cancers combined (standardised incidence ratio (SIR) = 10.5, 95% confidence interval = 5.4-18.3). The specific cancers included juvenile myelomonocytic leukaemia = 4; brain tumour = 3; acute lymphoblastic leukaemia = 2; rhabdomyosarcoma = 2; and neuroblastoma = 1. The childhood cancer SIR in Noonan syndrome patients was 8.1, whereas that for Costello syndrome patients was 42.4. Conclusions: These data comprise the first quantitative evidence documenting that the germline mutations in Ras signalling pathway genes are associated with increased risks of both childhood leukaemia and solid tumours."],["dc.identifier.doi","10.1038/bjc.2015.75"],["dc.identifier.isi","000352989900012"],["dc.identifier.pmid","25742478"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/37381"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Nature Publishing Group"],["dc.relation.issn","1532-1827"],["dc.relation.issn","0007-0920"],["dc.title","Cancer spectrum and frequency among children with Noonan, Costello, and cardio-facio-cutaneous syndromes"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.artnumber","62"],["dc.bibliographiccitation.issue","1"],["dc.bibliographiccitation.journal","Molecular Cytogenetics"],["dc.bibliographiccitation.volume","11"],["dc.contributor.author","Schnabel, Franziska"],["dc.contributor.author","Smogavec, Mateja"],["dc.contributor.author","Funke, Rudolf"],["dc.contributor.author","Pauli, Silke"],["dc.contributor.author","Burfeind, Peter"],["dc.contributor.author","Bartels, Iris"],["dc.date.accessioned","2019-07-09T11:49:46Z"],["dc.date.available","2019-07-09T11:49:46Z"],["dc.date.issued","2018"],["dc.description.abstract","Abstract Background Down syndrome, typically caused by trisomy 21, may also be associated by duplications of the Down syndrome critical region (DSCR) on chromosome 21q22. However, patients with small duplications of DSCR without accompanying deletions have rarely been reported. Case presentation Here we report a 5½-year-old boy with clinical features of Down syndrome including distinct craniofacial dysmorphism and sandal gaps as well as developmental delay. Conventional karyotype was normal, whereas interphase FISH analysis revealed three signals for DSCR in approximately 40% of lymphocytes and 80% of buccal mucosa cells. Array-CGH analysis confirmed a 2.56 Mb duplication of chromosome 21q22.13q22.2 encompassing DYRK1A. Conclusion This presents one of the smallest duplications within DSCR leading to a Down syndrome phenotype. Since the dosage sensitive gene DYRK1A is the only duplicated candidate DSCR gene in our patient, this finding supports the hypothesis that DYRK1A contributes to dysmorphic and intellectual features of Down syndrome even in a mosaic state."],["dc.identifier.doi","10.1186/s13039-018-0410-4"],["dc.identifier.pmid","30619508"],["dc.identifier.purl","https://resolver.sub.uni-goettingen.de/purl?gs-1/15763"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/59625"],["dc.language.iso","en"],["dc.notes.intern","Merged from goescholar"],["dc.publisher","BioMed Central"],["dc.rights","CC BY 4.0"],["dc.rights.uri","https://creativecommons.org/licenses/by/4.0"],["dc.title","Down syndrome phenotype in a boy with a mosaic microduplication of chromosome 21q22"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.version","published_version"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","651"],["dc.bibliographiccitation.issue","10"],["dc.bibliographiccitation.journal","Journal of Medical Genetics"],["dc.bibliographiccitation.lastpage","656"],["dc.bibliographiccitation.volume","44"],["dc.contributor.author","Zenker, Martin"],["dc.contributor.author","Horn, Denise"],["dc.contributor.author","Wieczorek, Dagmar"],["dc.contributor.author","Allanson, Judith E."],["dc.contributor.author","Pauli, Silke"],["dc.contributor.author","van der Burgt, Ineke"],["dc.contributor.author","Doerr, Helmuth-Guenther"],["dc.contributor.author","Gaspar, Harald"],["dc.contributor.author","Hofbeck, Michael"],["dc.contributor.author","Gillessen-Kaesbach, Gabriele"],["dc.contributor.author","Koch, Andreas"],["dc.contributor.author","Meinecke, Peter"],["dc.contributor.author","Mundlos, Stefan"],["dc.contributor.author","Nowka, Anja"],["dc.contributor.author","Rauch, Anita"],["dc.contributor.author","Reif, Silke"],["dc.contributor.author","von Schnakenburg, Christian"],["dc.contributor.author","Seidel, Heide"],["dc.contributor.author","Wehner, Lars-Erik"],["dc.contributor.author","Zweier, Christiane"],["dc.contributor.author","Bauhuber, Susanne"],["dc.contributor.author","Matejas, Verena"],["dc.contributor.author","Kratz, Christian P."],["dc.contributor.author","Thomas, Christoph"],["dc.contributor.author","Kutsche, Kerstin"],["dc.date.accessioned","2018-11-07T10:58:11Z"],["dc.date.available","2018-11-07T10:58:11Z"],["dc.date.issued","2007"],["dc.description.abstract","Background: Heterozygous gain- of- function mutations in various genes encoding proteins of the Ras- MAPK signalling cascade have been identified as the genetic basis of Noonan syndrome ( NS) and cardio- facio- cutaneous syndrome ( CFCS). Mutations of SOS1, the gene encoding a guanine nucleotide exchange factor for Ras, have been the most recent discoveries in patients with NS, but this gene has not been studied in patients with CFCS. Methods and results: We investigated SOS1 in a large cohort of patients with disorders of the NS - CFCS spectrum, who had previously tested negative for mutations in PTPN11, KRAS, BRAF, MEK1 and MEK2. Missense mutations of SOS1 were discovered in 28% of patients with NS. In contrast, none of the patients classified as having CFCS was found to carry a pathogenic sequence change in this gene. Conclusion: We have confirmed SOS1 as the second major gene for NS. Patients carrying mutations in this gene have a distinctive phenotype with frequent ectodermal anomalies such as keratosis pilaris and curly hair. However, the clinical picture associated with SOS1 mutations is different from that of CFCS. These findings corroborate that, despite being caused by gainoffunction mutations in molecules belonging to the same pathway, NS and CFCS scarcely overlap genotypically."],["dc.identifier.doi","10.1136/jmg.2007.051276"],["dc.identifier.isi","000249889300009"],["dc.identifier.pmid","17586837"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/50423"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","B M J Publishing Group"],["dc.relation.issn","0022-2593"],["dc.title","SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","268"],["dc.bibliographiccitation.issue","3"],["dc.bibliographiccitation.journal","Clinical Genetics"],["dc.bibliographiccitation.lastpage","272"],["dc.bibliographiccitation.volume","73"],["dc.contributor.author","Pantakani, Dasaradha Venkata Krishna"],["dc.contributor.author","Zechner, Ulrich"],["dc.contributor.author","Arygriou, L."],["dc.contributor.author","Pauli, Silke"],["dc.contributor.author","Sauter, Simone M."],["dc.contributor.author","Mannan, Ashraf U."],["dc.date.accessioned","2018-11-07T11:17:25Z"],["dc.date.available","2018-11-07T11:17:25Z"],["dc.date.issued","2008"],["dc.description.abstract","The SPG4 gene is frequently mutated in autosomal dominant form of hereditary spastic paraplegia (HSP). We report that the compound heterozygous sequence variants S44L, a known polymorphism, and c.1687G > A, a novel mutation in SPG4 cause a severe form of HSP in a patient. The family members carrying solely c.1687G > A mutation are asymptomatic for HSP. The reverse transcriptase-polymerase chain reaction (RT-PCR) analysis revealed that the c.1687G > A mutation is a splice site mutation and causes skipping of the exon 15 of spastin. Furthermore, quantification of RT-PCR products by sequencing and quantification of allele-specific expression by pyrosequencing assay revealed that c.1687G > A is a leaky or hypomorphic splice site mutation. At the protein level, c.1687G > A mutation in SPG4 leads to E563K substitution. In ex vivo study, about 10% of cells expressing E563K mutant spastin showed filamentous expression pattern, suggesting a hypomorphic effect at the protein level. Collectively, our results suggest that S44L in association with c.1687G > A (E563K) drops the functional level of spastin below a threshold limit sufficient to manifest HSP."],["dc.identifier.doi","10.1111/j.1399-0004.2007.00953.x"],["dc.identifier.isi","000252929000012"],["dc.identifier.pmid","18190593"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/54802"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Blackwell Publishing"],["dc.relation.issn","0009-9163"],["dc.title","Compound heterozygosity in the SPG4 gene causes hereditary spastic paraplegia"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.artnumber","74"],["dc.bibliographiccitation.journal","Molecular Cytogenetics"],["dc.bibliographiccitation.volume","7"],["dc.contributor.author","Schwaibold, Eva Maria Christina"],["dc.contributor.author","Smogavec, Mateja"],["dc.contributor.author","Hobbiebrunken, Elke"],["dc.contributor.author","Winter, Lorenz"],["dc.contributor.author","Zoll, Barbara"],["dc.contributor.author","Burfeind, Peter"],["dc.contributor.author","Brockmann, Knut"],["dc.contributor.author","Pauli, Silke"],["dc.date.accessioned","2018-11-07T09:33:25Z"],["dc.date.available","2018-11-07T09:33:25Z"],["dc.date.issued","2014"],["dc.description.abstract","Background: Kleefstra syndrome is characterized by intellectual disability, muscular hypotonia in childhood and typical facial features. It results from either a microdeletion of or a deleterious sequence variant in the gene euchromatic histone-lysine N-methyltransferase 1 (EHMT1) on chromosome 9q34. Results: We report on a 3-year-old girl with characteristic symptoms of Kleefstra syndrome. Array comparative genomic hybridization analysis revealed a 145 kilobases duplication spanning exons 2 to 10 of EHMT1. Sequence analysis characterized it as an intragenic tandem duplication leading to a frame shift with a premature stop codon in EHMT1. Conclusions: This is the first description of an intragenic duplication of EHMT1 resulting in Kleefstra syndrome."],["dc.identifier.doi","10.1186/s13039-014-0074-7"],["dc.identifier.isi","000344120100001"],["dc.identifier.pmid","25349628"],["dc.identifier.purl","https://resolver.sub.uni-goettingen.de/purl?gs-1/11004"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/31961"],["dc.notes.intern","Merged from goescholar"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Biomed Central Ltd"],["dc.relation.issn","1755-8166"],["dc.rights","CC BY 4.0"],["dc.rights.uri","https://creativecommons.org/licenses/by/4.0"],["dc.title","Intragenic duplication of EHMT1 gene results in Kleefstra syndrome"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dc.type.version","published_version"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","23"],["dc.bibliographiccitation.issue","1"],["dc.bibliographiccitation.journal","Monatsschrift Kinderheilkunde"],["dc.bibliographiccitation.lastpage","+"],["dc.bibliographiccitation.volume","155"],["dc.contributor.author","Pauli, Silke"],["dc.contributor.author","Steckel, M."],["dc.contributor.author","Zoll, Barbara"],["dc.contributor.author","Wehner, L.-E."],["dc.date.accessioned","2018-11-07T11:07:05Z"],["dc.date.available","2018-11-07T11:07:05Z"],["dc.date.issued","2007"],["dc.description.abstract","CHARGE syndrome is an autosomal dominant syndrome with a high clinical variability. The disorder consists of coloboma, heart defects, atresia of the choanae, retarded growth and development, genital hypoplasia, and ear anomalies and deafness, often in combination with hypoplasia of the semicircular canal. CHARGE syndrome is common, with an estimated incidence of 1/10,000-15,000 new-borns. The underlying cause are mutations in the CHD7 gene. The CHD7 protein belongs to a group of conserved proteins that are thought to play an important role in chromatin organization and regulation of gene expression. The known mutations are spread all over the whole gene; therefore, mutational analyses of all coding sequences and exon/intron boundaries of the gene are necessary for molecular diagnostics, which would be helpful in situations of diagnostic uncertainty."],["dc.identifier.doi","10.1007/s00112-006-1397-1"],["dc.identifier.isi","000244189100004"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/52472"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Springer"],["dc.relation.issn","0026-9298"],["dc.title","CHARGE - from an association to the syndrome"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]