FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W3090805871> ?p ?o ?g. }

• W3090805871 endingPage "e0239965" @default.
• W3090805871 startingPage "e0239965" @default.
• W3090805871 abstract "The maintenance of magnesium (Mg2+) homeostasis is essential for human life. The Cystathionine-β-synthase (CBS)-pair domain divalent metal cation transport mediators (CNNMs) have been described to be involved in maintaining Mg2+ homeostasis. Among these CNNMs, CNNM2 is expressed in the basolateral membrane of the kidney tubules where it is involved in Mg2+ reabsorption. A total of four patients, two of them with a suspected disorder of calcium metabolism, and two patients with a clinical diagnosis of primary tubulopathy were screened for mutations by Next-Generation Sequencing (NGS). We found one novel likely pathogenic variant in the heterozygous state (c.2384C>A; p.(Ser795*)) in the CNNM2 gene in a family with a suspected disorder of calcium metabolism. In this family, hypomagnesemia was indirectly discovered. Moreover, we observed three novel variants of uncertain significance in heterozygous state in the other three patients (c.557G>C; p.(Ser186Thr), c.778A>T; p.(Ile260Phe), and c.1003G>A; p.(Asp335Asn)). Our study shows the utility of Next-Generation Sequencing in unravelling the genetic origin of rare diseases. In clinical practice, serum Mg2+ should be determined in calcium and PTH-related disorders." @default.
• W3090805871 created "2020-10-08" @default.
• W3090805871 creator A5005996902 @default.
• W3090805871 creator A5011944060 @default.
• W3090805871 creator A5020511748 @default.
• W3090805871 creator A5025719092 @default.
• W3090805871 creator A5033256489 @default.
• W3090805871 creator A5041800929 @default.
• W3090805871 creator A5046244320 @default.
• W3090805871 creator A5052252028 @default.
• W3090805871 creator A5058537237 @default.
• W3090805871 creator A5067232796 @default.
• W3090805871 creator A5069080451 @default.
• W3090805871 creator A5070892987 @default.
• W3090805871 creator A5074104355 @default.
• W3090805871 creator A5088752304 @default.
• W3090805871 creator A5090023844 @default.
• W3090805871 creator A5090155213 @default.
• W3090805871 date "2020-09-30" @default.
• W3090805871 modified "2023-10-17" @default.
• W3090805871 title "Novel variant in the CNNM2 gene associated with dominant hypomagnesemia" @default.
• W3090805871 cites W1972402447 @default.
• W3090805871 cites W1992543140 @default.
• W3090805871 cites W2000936082 @default.
• W3090805871 cites W2020207539 @default.
• W3090805871 cites W2023219682 @default.
• W3090805871 cites W2051978340 @default.
• W3090805871 cites W2055961155 @default.
• W3090805871 cites W2060831383 @default.
• W3090805871 cites W2111973517 @default.
• W3090805871 cites W2133295192 @default.
• W3090805871 cites W2152356401 @default.
• W3090805871 cites W2155217644 @default.
• W3090805871 cites W2311505035 @default.
• W3090805871 cites W2596962162 @default.
• W3090805871 cites W2789647083 @default.
• W3090805871 cites W2792060787 @default.
• W3090805871 cites W2883976637 @default.
• W3090805871 cites W2896212932 @default.
• W3090805871 cites W2904114936 @default.
• W3090805871 cites W2913473772 @default.
• W3090805871 cites W2919341931 @default.
• W3090805871 cites W2946762128 @default.
• W3090805871 cites W2949181286 @default.
• W3090805871 cites W2949857618 @default.
• W3090805871 cites W2977870980 @default.
• W3090805871 doi "https://doi.org/10.1371/journal.pone.0239965" @default.
• W3090805871 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/7527205" @default.
• W3090805871 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/32997713" @default.
• W3090805871 hasPublicationYear "2020" @default.
• W3090805871 type Work @default.
• W3090805871 sameAs 3090805871 @default.
• W3090805871 citedByCount "7" @default.
• W3090805871 countsByYear W30908058712021 @default.
• W3090805871 countsByYear W30908058712022 @default.
• W3090805871 countsByYear W30908058712023 @default.
• W3090805871 crossrefType "journal-article" @default.
• W3090805871 hasAuthorship W3090805871A5005996902 @default.
• W3090805871 hasAuthorship W3090805871A5011944060 @default.
• W3090805871 hasAuthorship W3090805871A5020511748 @default.
• W3090805871 hasAuthorship W3090805871A5025719092 @default.
• W3090805871 hasAuthorship W3090805871A5033256489 @default.
• W3090805871 hasAuthorship W3090805871A5041800929 @default.
• W3090805871 hasAuthorship W3090805871A5046244320 @default.
• W3090805871 hasAuthorship W3090805871A5052252028 @default.
• W3090805871 hasAuthorship W3090805871A5058537237 @default.
• W3090805871 hasAuthorship W3090805871A5067232796 @default.
• W3090805871 hasAuthorship W3090805871A5069080451 @default.
• W3090805871 hasAuthorship W3090805871A5070892987 @default.
• W3090805871 hasAuthorship W3090805871A5074104355 @default.
• W3090805871 hasAuthorship W3090805871A5088752304 @default.
• W3090805871 hasAuthorship W3090805871A5090023844 @default.
• W3090805871 hasAuthorship W3090805871A5090155213 @default.
• W3090805871 hasBestOaLocation W30908058711 @default.
• W3090805871 hasConcept C104317684 @default.
• W3090805871 hasConcept C126322002 @default.
• W3090805871 hasConcept C134018914 @default.
• W3090805871 hasConcept C178790620 @default.
• W3090805871 hasConcept C185592680 @default.
• W3090805871 hasConcept C2776183862 @default.
• W3090805871 hasConcept C2780091579 @default.
• W3090805871 hasConcept C519063684 @default.
• W3090805871 hasConcept C543218039 @default.
• W3090805871 hasConcept C54355233 @default.
• W3090805871 hasConcept C56906281 @default.
• W3090805871 hasConcept C63645605 @default.
• W3090805871 hasConcept C71924100 @default.
• W3090805871 hasConcept C86803240 @default.
• W3090805871 hasConcept C87975464 @default.
• W3090805871 hasConceptScore W3090805871C104317684 @default.
• W3090805871 hasConceptScore W3090805871C126322002 @default.
• W3090805871 hasConceptScore W3090805871C134018914 @default.
• W3090805871 hasConceptScore W3090805871C178790620 @default.
• W3090805871 hasConceptScore W3090805871C185592680 @default.
• W3090805871 hasConceptScore W3090805871C2776183862 @default.
• W3090805871 hasConceptScore W3090805871C2780091579 @default.
• W3090805871 hasConceptScore W3090805871C519063684 @default.
• W3090805871 hasConceptScore W3090805871C543218039 @default.

• next