FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W3204303758> ?p ?o ?g. }

• W3204303758 endingPage "e0258202" @default.
• W3204303758 startingPage "e0258202" @default.
• W3204303758 abstract "Alpha-Mannosidosis (AM) is an ultra-rare storage disorder caused by a deficiency of lysosomal alpha-mannosidase encoded by the MAN2B1 gene. Clinical presentation of AM includes mental retardation, recurrent infections, hearing loss, dysmorphic features, and motor dysfunctions. AM has never been reported in Tunisia. We report here the clinical and genetic study of six patients from two Tunisian families with AM. The AM diagnosis was confirmed by an enzymatic activity assay. Genetic investigation was conducted by Sanger sequencing of the mutational hotspots for the first family and by ES analysis for the second one. In the first family, a frameshift duplication p.(Ser802GlnfsTer129) was identified in the MAN2B1 gene. For the second family, ES analysis led to the identification of a missense mutation p.(Arg229Trp) in the MAN2B1 gene in four affected family members. The p.(Ser802GlnfsTer129) mutation induces a premature termination codon which may trigger RNA degradation by the NMD system. The decrease in the levels of MAN2B1 synthesis could explain the severe phenotype observed in the index case. According to the literature, the p.(Arg229Trp) missense variant does not have an impact on MAN2B1 maturation and transportation, which correlates with a moderate clinical sub-type. To explain the intra-familial variability of cognitive impairment, exome analysis allowed the identification of two likely pathogenic variants in GHR and SLC19A3 genes potentially associated to cognitive decline. The present study raises awareness about underdiagnosis of AM in the region that deprives patients from accessing adequate care. Indeed, early diagnosis is critical in order to prevent disease progression and to propose enzyme replacement therapy." @default.
• W3204303758 created "2021-10-11" @default.
• W3204303758 creator A5000179224 @default.
• W3204303758 creator A5000827963 @default.
• W3204303758 creator A5001748167 @default.
• W3204303758 creator A5006048398 @default.
• W3204303758 creator A5007010527 @default.
• W3204303758 creator A5011620023 @default.
• W3204303758 creator A5017402770 @default.
• W3204303758 creator A5017748107 @default.
• W3204303758 creator A5020599344 @default.
• W3204303758 creator A5020859990 @default.
• W3204303758 creator A5024685910 @default.
• W3204303758 creator A5027889523 @default.
• W3204303758 creator A5033196831 @default.
• W3204303758 creator A5044034513 @default.
• W3204303758 creator A5044414660 @default.
• W3204303758 creator A5052338940 @default.
• W3204303758 creator A5054111023 @default.
• W3204303758 creator A5057896482 @default.
• W3204303758 creator A5062446524 @default.
• W3204303758 creator A5066324191 @default.
• W3204303758 creator A5070114972 @default.
• W3204303758 creator A5073214197 @default.
• W3204303758 creator A5073224818 @default.
• W3204303758 creator A5075451735 @default.
• W3204303758 creator A5077738900 @default.
• W3204303758 creator A5079614882 @default.
• W3204303758 creator A5080108159 @default.
• W3204303758 date "2021-10-06" @default.
• W3204303758 modified "2023-10-18" @default.
• W3204303758 title "Alpha-mannosidosis in Tunisian consanguineous families: Potential involvement of variants in GHR and SLC19A3 genes in the variable expressivity of cognitive impairment" @default.
• W3204303758 cites W1570427382 @default.
• W3204303758 cites W1994338782 @default.
• W3204303758 cites W1995921407 @default.
• W3204303758 cites W2047277088 @default.
• W3204303758 cites W2051524933 @default.
• W3204303758 cites W2051978340 @default.
• W3204303758 cites W2086874598 @default.
• W3204303758 cites W2092483615 @default.
• W3204303758 cites W2103267166 @default.
• W3204303758 cites W2103324744 @default.
• W3204303758 cites W2112597203 @default.
• W3204303758 cites W2113068730 @default.
• W3204303758 cites W2141151427 @default.
• W3204303758 cites W2548858977 @default.
• W3204303758 cites W2782268929 @default.
• W3204303758 cites W2806867061 @default.
• W3204303758 cites W2911609287 @default.
• W3204303758 cites W2949579754 @default.
• W3204303758 cites W2953103049 @default.
• W3204303758 cites W2953469676 @default.
• W3204303758 cites W2974166370 @default.
• W3204303758 cites W354620360 @default.
• W3204303758 cites W4250513280 @default.
• W3204303758 doi "https://doi.org/10.1371/journal.pone.0258202" @default.
• W3204303758 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/8494324" @default.
• W3204303758 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/34614013" @default.
• W3204303758 hasPublicationYear "2021" @default.
• W3204303758 type Work @default.
• W3204303758 sameAs 3204303758 @default.
• W3204303758 citedByCount "1" @default.
• W3204303758 countsByYear W32043037582023 @default.
• W3204303758 crossrefType "journal-article" @default.
• W3204303758 hasAuthorship W3204303758A5000179224 @default.
• W3204303758 hasAuthorship W3204303758A5000827963 @default.
• W3204303758 hasAuthorship W3204303758A5001748167 @default.
• W3204303758 hasAuthorship W3204303758A5006048398 @default.
• W3204303758 hasAuthorship W3204303758A5007010527 @default.
• W3204303758 hasAuthorship W3204303758A5011620023 @default.
• W3204303758 hasAuthorship W3204303758A5017402770 @default.
• W3204303758 hasAuthorship W3204303758A5017748107 @default.
• W3204303758 hasAuthorship W3204303758A5020599344 @default.
• W3204303758 hasAuthorship W3204303758A5020859990 @default.
• W3204303758 hasAuthorship W3204303758A5024685910 @default.
• W3204303758 hasAuthorship W3204303758A5027889523 @default.
• W3204303758 hasAuthorship W3204303758A5033196831 @default.
• W3204303758 hasAuthorship W3204303758A5044034513 @default.
• W3204303758 hasAuthorship W3204303758A5044414660 @default.
• W3204303758 hasAuthorship W3204303758A5052338940 @default.
• W3204303758 hasAuthorship W3204303758A5054111023 @default.
• W3204303758 hasAuthorship W3204303758A5057896482 @default.
• W3204303758 hasAuthorship W3204303758A5062446524 @default.
• W3204303758 hasAuthorship W3204303758A5066324191 @default.
• W3204303758 hasAuthorship W3204303758A5070114972 @default.
• W3204303758 hasAuthorship W3204303758A5073214197 @default.
• W3204303758 hasAuthorship W3204303758A5073224818 @default.
• W3204303758 hasAuthorship W3204303758A5075451735 @default.
• W3204303758 hasAuthorship W3204303758A5077738900 @default.
• W3204303758 hasAuthorship W3204303758A5079614882 @default.
• W3204303758 hasAuthorship W3204303758A5080108159 @default.
• W3204303758 hasBestOaLocation W32043037581 @default.
• W3204303758 hasConcept C104317684 @default.
• W3204303758 hasConcept C16671776 @default.
• W3204303758 hasConcept C29906990 @default.
• W3204303758 hasConcept C501734568 @default.
• W3204303758 hasConcept C54355233 @default.
• W3204303758 hasConcept C75563809 @default.

• next