| http://purl.uniprot.org/citations/34116171 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/34116171 | http://www.w3.org/2000/01/rdf-schema#comment | "The prevalence of familial multiple sclerosis (FMS) is increasing worldwide which endorses the heritability of the disease. Given that many genome variations are ethnicity-specific and consanguineous marriage could affect genetic diseases, hereditary disease gene analysis among FMS patients from Iran, a country with high rates of parental consanguinity, could be highly effective in finding mutations underlying disease pathogenesis. To examine rare genetic mutations, we selected three Iranian FMS cases with ≥3 MS patients in more than one generation and performed whole exome sequencing. We identified a homozygous rare missense variant in POLD2 (p. Arg141Cys; rs372336011). Molecular dynamics analysis showed reduced polar dehydration energy and conformational changes in POLD2 mutant. Further, we found a heterozygote rare missense variant in NBFP1 (p. Gly487Asp; rs778806175). Our study revealed the possible role of novel rare variants in FMS. Molecular dynamic simulation provided the initial evidence of the structural changes behind POLD2 mutant."xsd:string |
| http://purl.uniprot.org/citations/34116171 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.ygeno.2021.06.008"xsd:string |
| http://purl.uniprot.org/citations/34116171 | http://purl.uniprot.org/core/author | "Keramatipour M."xsd:string |
| http://purl.uniprot.org/citations/34116171 | http://purl.uniprot.org/core/author | "Arab S.S."xsd:string |
| http://purl.uniprot.org/citations/34116171 | http://purl.uniprot.org/core/author | "Salehi Z."xsd:string |
| http://purl.uniprot.org/citations/34116171 | http://purl.uniprot.org/core/author | "Talebi S."xsd:string |
| http://purl.uniprot.org/citations/34116171 | http://purl.uniprot.org/core/author | "Naser Moghadasi A."xsd:string |
| http://purl.uniprot.org/citations/34116171 | http://purl.uniprot.org/core/author | "Izad M."xsd:string |
| http://purl.uniprot.org/citations/34116171 | http://purl.uniprot.org/core/author | "Sahraian M.A."xsd:string |
| http://purl.uniprot.org/citations/34116171 | http://purl.uniprot.org/core/date | "2021"xsd:gYear |
| http://purl.uniprot.org/citations/34116171 | http://purl.uniprot.org/core/name | "Genomics"xsd:string |
| http://purl.uniprot.org/citations/34116171 | http://purl.uniprot.org/core/pages | "2645-2655"xsd:string |
| http://purl.uniprot.org/citations/34116171 | http://purl.uniprot.org/core/title | "Exome sequencing reveals novel rare variants in Iranian familial multiple sclerosis: The importance of POLD2 in the disease pathogenesis."xsd:string |
| http://purl.uniprot.org/citations/34116171 | http://purl.uniprot.org/core/volume | "113"xsd:string |
| http://purl.uniprot.org/citations/34116171 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/34116171 |
| http://purl.uniprot.org/citations/34116171 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/34116171 |
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| http://purl.uniprot.org/uniprot/#_P49005-mappedCitation-34116171 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/34116171 |
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| http://purl.uniprot.org/uniprot/P49005 | http://purl.uniprot.org/core/mappedCitation | http://purl.uniprot.org/citations/34116171 |