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http://hdl.handle.net/11452/34407
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DC Field | Value | Language |
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dc.contributor.author | Ergören, Mahmut Çerkez | - |
dc.contributor.author | Manara, Elena | - |
dc.contributor.author | Paolacci, Stefano T | - |
dc.contributor.author | Tuncel, Gülten | - |
dc.contributor.author | Gül, Şeref | - |
dc.contributor.author | Bertelli, Matteo | - |
dc.date.accessioned | 2023-10-17T11:59:18Z | - |
dc.date.available | 2023-10-17T11:59:18Z | - |
dc.date.issued | 2020-12 | - |
dc.identifier.citation | Temel, Ş. G. vd. (2020). "Unique combination and in silico modeling of biallelic POLR3A variants as a cause of Wiedemann-Rautenstrauch syndrome". European Journal of Human Genetics, 28(12), 1675-1680. | en_US |
dc.identifier.issn | 1018-4813 | - |
dc.identifier.issn | 1476-5438 | - |
dc.identifier.uri | https://doi.org/10.1038/s41431-020-0673-1 | - |
dc.identifier.uri | https://www.nature.com/articles/s41431-020-0673-1 | - |
dc.identifier.uri | http://hdl.handle.net/11452/34407 | - |
dc.description.abstract | Neonatal progeroid syndrome or Wiedemann-Rautenstrauch syndrome (WRS; MIM 264090) is a rare genetic disorder that has clinical symptoms including premature aging, lipodystrophy, and variable mental impairment. Until recently genetic background of the disease was unclear. However, recent studies have indicated that WRS patients have compound heterozygote variations in thePOLR3A(RNA polymerase III subunit 3A; MIM 614258) gene that might be responsible for the disease phenotype. In this study we report a WRS patient that has compound heterozygote variations in thePOLR3Agene. One of the reported variations in our patient, c.3568C>T, p.(Gln1190Ter), is a novel variation that was not reported before. The other variant, c.3337-11T>C, was previously shown in WRS patients in trans with other variations. | en_US |
dc.language.iso | en | en_US |
dc.publisher | Springernature | en_US |
dc.rights | info:eu-repo/semantics/openAccess | en_US |
dc.rights | Atıf Gayri Ticari Türetilemez 4.0 Uluslararası | tr_TR |
dc.rights.uri | http://creativecommons.org/licenses/by-nc-nd/4.0/ | * |
dc.subject | Biochemistry & molecular biology | en_US |
dc.subject | Genetics & heredity | en_US |
dc.subject | Progeroid syndrome | en_US |
dc.subject | III cause | en_US |
dc.subject | Mutations | en_US |
dc.subject | Genes | en_US |
dc.subject.mesh | Alleles | en_US |
dc.subject.mesh | Child | en_US |
dc.subject.mesh | Female | en_US |
dc.subject.mesh | Fetal growth retardation | en_US |
dc.subject.mesh | Humans | en_US |
dc.subject.mesh | Molecular dynamics simulation | en_US |
dc.subject.mesh | Mutation | en_US |
dc.subject.mesh | Progeria | en_US |
dc.subject.mesh | RNA polymerase III | en_US |
dc.title | Unique combination and in silico modeling of biallelic POLR3A variants as a cause of Wiedemann–Rautenstrauch syndrome | en_US |
dc.type | Article | en_US |
dc.identifier.wos | 000541211700001 | tr_TR |
dc.identifier.scopus | 2-s2.0-85086594223 | tr_TR |
dc.relation.publicationcategory | Makale - Uluslararası Hakemli Dergi | tr_TR |
dc.contributor.department | Uludağ Üniversitesi/Tıp Fakültesi/Temel Tıp Bilimleri Bölümü. | tr_TR |
dc.identifier.startpage | 1675 | tr_TR |
dc.identifier.endpage | 1680 | tr_TR |
dc.identifier.volume | 28 | tr_TR |
dc.identifier.issue | 12 | tr_TR |
dc.relation.journal | European Journal of Human Genetics | en_US |
dc.contributor.buuauthor | Temel, Şehime Gülsün | - |
dc.contributor.researcherid | AAG-8385-2021 | tr_TR |
dc.relation.collaboration | Yurt içi | tr_TR |
dc.relation.collaboration | Sanayi | tr_TR |
dc.relation.collaboration | Yurtdışı | tr_TR |
dc.identifier.pubmed | 32555393 | tr_TR |
dc.subject.wos | Biochemistry & molecular biology | en_US |
dc.subject.wos | Genetics & heredity | en_US |
dc.indexed.wos | SCIE | en_US |
dc.indexed.scopus | Scopus | en_US |
dc.indexed.pubmed | PubMed | en_US |
dc.wos.quartile | Q2 | en_US |
dc.contributor.scopusid | 6507885442 | tr_TR |
dc.subject.scopus | Agenesis; Scrotum; Congenital generalized lipodystrophy | en_US |
dc.subject.emtree | Rna polymerase iii subunit 3a | en_US |
dc.subject.emtree | Unclassified drug | en_US |
dc.subject.emtree | DNA directed RNA polymerase III | en_US |
dc.subject.emtree | POLR3A protein, human | en_US |
dc.subject.emtree | Adult | en_US |
dc.subject.emtree | Amino acid sequence | en_US |
dc.subject.emtree | Article | en_US |
dc.subject.emtree | Case report | en_US |
dc.subject.emtree | Clinical article | en_US |
dc.subject.emtree | Clinical examination | en_US |
dc.subject.emtree | Clinical feature | en_US |
dc.subject.emtree | Computer model | en_US |
dc.subject.emtree | Female | en_US |
dc.subject.emtree | Genetic background | en_US |
dc.subject.emtree | Genetic disorder | en_US |
dc.subject.emtree | Heterozygote | en_US |
dc.subject.emtree | Human | en_US |
dc.subject.emtree | Karyotyping | en_US |
dc.subject.emtree | Molecular genetics | en_US |
dc.subject.emtree | Phenotype | en_US |
dc.subject.emtree | Priority journal | en_US |
dc.subject.emtree | Sequence homology | en_US |
dc.subject.emtree | Wiedemann Rautenstrauch syndrome | en_US |
dc.subject.emtree | Allele | en_US |
dc.subject.emtree | Chemistry | en_US |
dc.subject.emtree | Child | en_US |
dc.subject.emtree | Genetics | en_US |
dc.subject.emtree | Intrauterine growth retardation | en_US |
dc.subject.emtree | Molecular dynamics | en_US |
dc.subject.emtree | Mutation | en_US |
dc.subject.emtree | Pathology | en_US |
dc.subject.emtree | Progeria | en_US |
Appears in Collections: | Scopus Web of Science |
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