FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W4206041591> ?p ?o ?g. }

• W4206041591 abstract "Mucopolysaccharidosis VI (MPS VI) is an autosomal recessive lysosomal storage disease caused by mutations in the arylsulfatase B gene (ARSB) and consequent deficient activity of ARSB, a lysosomal enzyme involved in the glycosaminoglycan (s) (GAGs) metabolism. Here, we present the results of the study of ARSB DNA analysis in MPS VI patients in the Russian Federation (RF) and other republics of the Former Soviet Union. In a cohort of 68 patients (57 families) with MPS VI, a total of 28 different pathogenic alleles were found. The most prevalent nucleotide changes included NM_000046.5:c.194C>T and NM_000046.5:c.454C>T. Five pathogenic alleles were novel, not previously reported (NM_000046.5:c.304C>G, NM_000046.5:c.533A>G, NM_000046.5:c.941T>C, NM_000046.5:c.447_456del10, and NM_000046.5:c.990_10003del14). The nucleotide variant NM_000045.6:c.454C>T was the prevalent allele among Slavic Russian patients. The nucleotide variant NM_000045.6:c.194C>T was found only in MPS VI families from the Republic of Dagestan. Based on the analysis of dry blood spots (DBSs) collected from newborns in this RF region, we showed the frequency of this mutant allele in the Republic of Dagestan to be 0.01 corresponding to the MPS VI frequency of nearly 1:10,000, which is one of the highest worldwide. This may eventually make the selective asymptomatic carrier test and newborn screening highly feasible in this region of the country." @default.
• W4206041591 created "2022-01-26" @default.
• W4206041591 creator A5006923223 @default.
• W4206041591 creator A5013300689 @default.
• W4206041591 creator A5014252258 @default.
• W4206041591 creator A5026064410 @default.
• W4206041591 creator A5042113498 @default.
• W4206041591 creator A5058922888 @default.
• W4206041591 creator A5061470955 @default.
• W4206041591 creator A5078283527 @default.
• W4206041591 creator A5081046203 @default.
• W4206041591 creator A5083951919 @default.
• W4206041591 creator A5088740796 @default.
• W4206041591 date "2022-01-18" @default.
• W4206041591 modified "2023-10-16" @default.
• W4206041591 title "Epidemiology and Genetics of Mucopolysaccharidosis Type VI in Russia" @default.
• W4206041591 cites W1982513085 @default.
• W4206041591 cites W2009505036 @default.
• W4206041591 cites W2026223594 @default.
• W4206041591 cites W2038181017 @default.
• W4206041591 cites W2058795042 @default.
• W4206041591 cites W2065081516 @default.
• W4206041591 cites W2072112817 @default.
• W4206041591 cites W2115389146 @default.
• W4206041591 cites W2135430176 @default.
• W4206041591 cites W2136069293 @default.
• W4206041591 cites W2156068440 @default.
• W4206041591 cites W2477136658 @default.
• W4206041591 cites W2617895008 @default.
• W4206041591 cites W2885351537 @default.
• W4206041591 cites W2912843979 @default.
• W4206041591 cites W4245919950 @default.
• W4206041591 doi "https://doi.org/10.3389/fmolb.2021.780184" @default.
• W4206041591 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/35118118" @default.
• W4206041591 hasPublicationYear "2022" @default.
• W4206041591 type Work @default.
• W4206041591 citedByCount "1" @default.
• W4206041591 crossrefType "journal-article" @default.
• W4206041591 hasAuthorship W4206041591A5006923223 @default.
• W4206041591 hasAuthorship W4206041591A5013300689 @default.
• W4206041591 hasAuthorship W4206041591A5014252258 @default.
• W4206041591 hasAuthorship W4206041591A5026064410 @default.
• W4206041591 hasAuthorship W4206041591A5042113498 @default.
• W4206041591 hasAuthorship W4206041591A5058922888 @default.
• W4206041591 hasAuthorship W4206041591A5061470955 @default.
• W4206041591 hasAuthorship W4206041591A5078283527 @default.
• W4206041591 hasAuthorship W4206041591A5081046203 @default.
• W4206041591 hasAuthorship W4206041591A5083951919 @default.
• W4206041591 hasAuthorship W4206041591A5088740796 @default.
• W4206041591 hasBestOaLocation W42060415911 @default.
• W4206041591 hasConcept C104317684 @default.
• W4206041591 hasConcept C105639569 @default.
• W4206041591 hasConcept C126322002 @default.
• W4206041591 hasConcept C137916694 @default.
• W4206041591 hasConcept C144133560 @default.
• W4206041591 hasConcept C153911025 @default.
• W4206041591 hasConcept C180754005 @default.
• W4206041591 hasConcept C2777910003 @default.
• W4206041591 hasConcept C2778264360 @default.
• W4206041591 hasConcept C2779134260 @default.
• W4206041591 hasConcept C2779416428 @default.
• W4206041591 hasConcept C3019953208 @default.
• W4206041591 hasConcept C37463918 @default.
• W4206041591 hasConcept C54355233 @default.
• W4206041591 hasConcept C71924100 @default.
• W4206041591 hasConcept C86803240 @default.
• W4206041591 hasConceptScore W4206041591C104317684 @default.
• W4206041591 hasConceptScore W4206041591C105639569 @default.
• W4206041591 hasConceptScore W4206041591C126322002 @default.
• W4206041591 hasConceptScore W4206041591C137916694 @default.
• W4206041591 hasConceptScore W4206041591C144133560 @default.
• W4206041591 hasConceptScore W4206041591C153911025 @default.
• W4206041591 hasConceptScore W4206041591C180754005 @default.
• W4206041591 hasConceptScore W4206041591C2777910003 @default.
• W4206041591 hasConceptScore W4206041591C2778264360 @default.
• W4206041591 hasConceptScore W4206041591C2779134260 @default.
• W4206041591 hasConceptScore W4206041591C2779416428 @default.
• W4206041591 hasConceptScore W4206041591C3019953208 @default.
• W4206041591 hasConceptScore W4206041591C37463918 @default.
• W4206041591 hasConceptScore W4206041591C54355233 @default.
• W4206041591 hasConceptScore W4206041591C71924100 @default.
• W4206041591 hasConceptScore W4206041591C86803240 @default.
• W4206041591 hasLocation W42060415911 @default.
• W4206041591 hasLocation W42060415912 @default.
• W4206041591 hasLocation W42060415913 @default.
• W4206041591 hasLocation W42060415914 @default.
• W4206041591 hasOpenAccess W4206041591 @default.
• W4206041591 hasPrimaryLocation W42060415911 @default.
• W4206041591 hasRelatedWork W1970327593 @default.
• W4206041591 hasRelatedWork W1988517967 @default.
• W4206041591 hasRelatedWork W2057739827 @default.
• W4206041591 hasRelatedWork W2057784597 @default.
• W4206041591 hasRelatedWork W2070922469 @default.
• W4206041591 hasRelatedWork W2071887209 @default.
• W4206041591 hasRelatedWork W2097276976 @default.
• W4206041591 hasRelatedWork W2223919059 @default.
• W4206041591 hasRelatedWork W3165452661 @default.
• W4206041591 hasRelatedWork W96924620 @default.
• W4206041591 hasVolume "8" @default.
• W4206041591 isParatext "false" @default.

• next