Wollnik, Bernd

[["dc.bibliographiccitation.firstpage","591"],["dc.bibliographiccitation.issue","3"],["dc.bibliographiccitation.journal","Human Mutation"],["dc.bibliographiccitation.lastpage","599"],["dc.bibliographiccitation.volume","41"],["dc.contributor.author","Yigit, Gökhan"],["dc.contributor.author","Saida, Ken"],["dc.contributor.author","DeMarzo, Danielle"],["dc.contributor.author","Miyake, Noriko"],["dc.contributor.author","Fujita, Atsushi"],["dc.contributor.author","Yang Tan, Tiong"],["dc.contributor.author","White, Susan M."],["dc.contributor.author","Wadley, Alexandrea"],["dc.contributor.author","Toliat, Mohammad R."],["dc.contributor.author","Motameny, Susanne"],["dc.contributor.author","Franitza, Marek"],["dc.contributor.author","Stutterd, Chloe A."],["dc.contributor.author","Chong, Pin F."],["dc.contributor.author","Kira, Ryutaro"],["dc.contributor.author","Sengoku, Toru"],["dc.contributor.author","Ogata, Kazuhiro"],["dc.contributor.author","Guillen Sacoto, Maria J."],["dc.contributor.author","Fresen, Christine"],["dc.contributor.author","Beck, Bodo B."],["dc.contributor.author","Nürnberg, Peter"],["dc.contributor.author","Dieterich, Christoph"],["dc.contributor.author","Wollnik, Bernd"],["dc.contributor.author","Matsumoto, Naomichi"],["dc.contributor.author","Altmüller, Janine"],["dc.date.accessioned","2020-12-10T14:06:39Z"],["dc.date.available","2020-12-10T14:06:39Z"],["dc.date.issued","2019"],["dc.description.abstract","RHOA is a member of the Rho family of GTPases that are involved in fundamental cellular processes including cell adhesion, migration, and proliferation. RHOA can stimulate the formation of stress fibers and focal adhesions and is a key regulator of actomyosin dynamics in various tissues. In a Genematcher-facilitated collaboration, we were able to identify four unrelated individuals with a specific phenotype characterized by hypopigmented areas of the skin, dental anomalies, body asymmetry, and limb length discrepancy due to hemihypotrophy of one half of the body, as well as brain magnetic resonance imaging (MRI) anomalies. Using whole-exome and ultra-deep amplicon sequencing and comparing genomic data of affected and unaffected areas of the skin, we discovered that all four individuals carried the identical RHOA missense variant, c.139G>A; p.Glu47Lys, in a postzygotic state. Molecular modeling and in silico analysis of the affected p.Glu47Lys residue in RHOA indicated that this exchange is predicted to specifically alter the interaction of RHOA with its downstream effectors containing a PKN-type binding domain and thereby disrupts its ability to activate signaling. Our findings indicate that the recurrent postzygotic RHOA missense variant p.Glu47Lys causes a specific mosaic disorder in humans."],["dc.description.sponsorship","AMED http://dx.doi.org/10.13039/100009619"],["dc.description.sponsorship","Deutsche Forschungsgemeinschaft http://dx.doi.org/10.13039/501100001659"],["dc.description.sponsorship","JSPS http://dx.doi.org/10.13039/501100001691"],["dc.description.sponsorship","Takeda Science Foundation http://dx.doi.org/10.13039/100007449"],["dc.description.sponsorship","Ministry of Health, Labour and Welfare http://dx.doi.org/10.13039/501100003478"],["dc.identifier.doi","10.1002/humu.23964"],["dc.identifier.eissn","1098-1004"],["dc.identifier.issn","1059-7794"],["dc.identifier.pmid","31821646"],["dc.identifier.purl","https://resolver.sub.uni-goettingen.de/purl?gs-1/17077"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/69974"],["dc.identifier.url","https://mbexc.uni-goettingen.de/literature/publications/10"],["dc.language.iso","en"],["dc.notes.intern","DOI Import GROB-354"],["dc.relation","EXC 2067: Multiscale Bioimaging"],["dc.relation.eissn","1098-1004"],["dc.relation.issn","1059-7794"],["dc.relation.orgunit","Universitätsmedizin Göttingen"],["dc.relation.workinggroup","RG Wollnik"],["dc.rights","CC BY-NC 4.0"],["dc.rights.uri","https://creativecommons.org/licenses/by-nc/4.0"],["dc.subject.ddc","610"],["dc.title","The recurrent postzygotic pathogenic variant p.Glu47Lys in RHOA causes a novel recognizable neuroectodermal phenotype"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.subtype","original_ja"],["dc.type.version","published_version"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.artnumber","252"],["dc.bibliographiccitation.journal","Frontiers in Molecular Neuroscience"],["dc.bibliographiccitation.volume","11"],["dc.contributor.author","Bögershausen, Nina"],["dc.contributor.author","Wollnik, Bernd"],["dc.date.accessioned","2019-07-09T11:45:45Z"],["dc.date.available","2019-07-09T11:45:45Z"],["dc.date.issued","2018"],["dc.description.abstract","Mutations in genes that encode proteins of the SWI/SNF complex, called BAF complex in mammals, cause a spectrum of disorders that ranges from syndromic intellectual disability to Coffin-Siris syndrome (CSS) to Nicolaides-Baraitser syndrome (NCBRS). While NCBRS is known to be a recognizable and restricted phenotype, caused by missense mutations in SMARCA2, the term CSS has been used lately for a more heterogeneous group of phenotypes that are caused by mutations in either of the genes ARID1B, ARID1A, ARID2, SMARCA4, SMARCB1, SMARCE1, SOX11, or DPF2. In this review, we summarize the current knowledge on the phenotypic traits and molecular causes of the above named conditions, consider the question whether a clinical distinction of the phenotypes is still adequate, and suggest the term \"SWI/SNF-related intellectual disability disorders\" (SSRIDDs). We will also outline important features to identify the ARID1B-related phenotype in the absence of classic CSS features, and discuss distinctive and overlapping features of the SSRIDD subtypes. Moreover, we will briefly review the function of the SWI/SNF complex in development and describe the mutational landscapes of the genes involved in SSRIDD."],["dc.identifier.doi","10.3389/fnmol.2018.00252"],["dc.identifier.pmid","30123105"],["dc.identifier.purl","https://resolver.sub.uni-goettingen.de/purl?gs-1/15312"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/59306"],["dc.language.iso","en"],["dc.notes.intern","Merged from goescholar"],["dc.publisher","Frontiers Media S.A."],["dc.relation.eissn","1662-5099"],["dc.relation.issn","1662-5099"],["dc.rights","CC BY 4.0"],["dc.rights.uri","https://creativecommons.org/licenses/by/4.0"],["dc.subject.ddc","610"],["dc.title","Mutational Landscapes and Phenotypic Spectrum of SWI/SNF-Related Intellectual Disability Disorders"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.version","published_version"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.artnumber","1180"],["dc.bibliographiccitation.issue","1"],["dc.bibliographiccitation.journal","Nature Communications"],["dc.bibliographiccitation.volume","10"],["dc.contributor.author","Lahrouchi, Najim"],["dc.contributor.author","George, Aman"],["dc.contributor.author","Ratbi, Ilham"],["dc.contributor.author","Schneider, Ronen"],["dc.contributor.author","Elalaoui, Siham C."],["dc.contributor.author","Moosa, Shahida"],["dc.contributor.author","Bharti, Sanita"],["dc.contributor.author","Sharma, Ruchi"],["dc.contributor.author","Abu-Asab, Mones"],["dc.contributor.author","Onojafe, Felix"],["dc.contributor.author","Adadi, Najlae"],["dc.contributor.author","Lodder, Elisabeth M."],["dc.contributor.author","Laarabi, Fatima-Zahra"],["dc.contributor.author","Lamsyah, Yassine"],["dc.contributor.author","Elorch, Hamza"],["dc.contributor.author","Chebbar, Imane"],["dc.contributor.author","Postma, Alex V."],["dc.contributor.author","Lougaris, Vassilios"],["dc.contributor.author","Plebani, Alessandro"],["dc.contributor.author","Altmueller, Janine"],["dc.contributor.author","Kyrieleis, Henriette"],["dc.contributor.author","Meiner, Vardiella"],["dc.contributor.author","McNeill, Helen"],["dc.contributor.author","Bharti, Kapil"],["dc.contributor.author","Lyonnet, Stanislas"],["dc.contributor.author","Wollnik, Bernd"],["dc.contributor.author","Henrion-Caude, Alexandra"],["dc.contributor.author","Berraho, Amina"],["dc.contributor.author","Hildebrandt, Friedhelm"],["dc.contributor.author","Bezzina, Connie R."],["dc.contributor.author","Brooks, Brian P."],["dc.contributor.author","Sefiani, Abdelaziz"],["dc.date.accessioned","2019-07-09T11:51:07Z"],["dc.date.available","2019-07-09T11:51:07Z"],["dc.date.issued","2019"],["dc.description.abstract","A failure in optic fissure fusion during development can lead to blinding malformations of the eye. Here, we report a syndrome characterized by facial dysmorphism, colobomatous microphthalmia, ptosis and syndactyly with or without nephropathy, associated with homozygous frameshift mutations in FAT1. We show that Fat1 knockout mice and zebrafish embryos homozygous for truncating fat1a mutations exhibit completely penetrant coloboma, recapitulating the most consistent developmental defect observed in affected individuals. In human retinal pigment epithelium (RPE) cells, the primary site for the fusion of optic fissure margins, FAT1 is localized at earliest cell-cell junctions, consistent with a role in facilitating optic fissure fusion during vertebrate eye development. Our findings establish FAT1 as a gene with pleiotropic effects in human, in that frameshift mutations cause a severe multi-system disorder whereas recessive missense mutations had been previously associated with isolated glomerulotubular nephropathy."],["dc.identifier.doi","10.1038/s41467-019-08547-w"],["dc.identifier.purl","https://resolver.sub.uni-goettingen.de/purl?gs-1/16053"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/59880"],["dc.language.iso","en"],["dc.notes.intern","Merged from goescholar"],["dc.rights","CC BY 4.0"],["dc.rights.uri","https://creativecommons.org/licenses/by/4.0"],["dc.subject.ddc","610"],["dc.title","Homozygous frameshift mutations in FAT1 cause a syndrome characterized by colobomatous-microphthalmia, ptosis, nephropathy and syndactyly"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.version","published_version"],["dspace.entity.type","Publication"]]