FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W4283693236> ?p ?o ?g. }

• W4283693236 endingPage "7190" @default.
• W4283693236 startingPage "7190" @default.
• W4283693236 abstract "Neuropathic pain is common in diabetic peripheral neuropathy (DN), probably caused by pathogenic ion channel gene variants. Therefore, we performed molecular inversion probes-next generation sequencing of 5 transient receptor potential cation channels, 8 potassium channels and 2 calcium-activated chloride channel genes in 222 painful- and 304 painless-DN patients. Twelve painful-DN (5.4%) patients showed potentially pathogenic variants (five nonsense/frameshift, seven missense, one out-of-frame deletion) in ANO3 (n = 3), HCN1 (n = 1), KCNK18 (n = 2), TRPA1 (n = 3), TRPM8 (n = 3) and TRPV4 (n = 1) and fourteen painless-DN patients (4.6%—three nonsense/frameshift, nine missense, one out-of-frame deletion) in ANO1 (n = 1), KCNK18 (n = 3), KCNQ3 (n = 1), TRPA1 (n = 2), TRPM8 (n = 1), TRPV1 (n = 3) and TRPV4 (n = 3). Missense variants were present in both conditions, presumably with loss- or gain-of-functions. KCNK18 nonsense/frameshift variants were found in painless/painful-DN, making a causal role in pain less likely. Surprisingly, premature stop-codons with likely nonsense-mediated RNA-decay were more frequent in painful-DN. Although limited in number, painful-DN patients with ion channel gene variants reported higher maximal pain during the night and day. Moreover, painful-DN patients with TRP variants had abnormal thermal thresholds and more severe pain during the night and day. Our results suggest a role of ion channel gene variants in neuropathic pain, but functional validation is required." @default.
• W4283693236 created "2022-06-30" @default.
• W4283693236 creator A5002957653 @default.
• W4283693236 creator A5005518749 @default.
• W4283693236 creator A5010307677 @default.
• W4283693236 creator A5013956389 @default.
• W4283693236 creator A5020224380 @default.
• W4283693236 creator A5024901730 @default.
• W4283693236 creator A5026945028 @default.
• W4283693236 creator A5028508521 @default.
• W4283693236 creator A5029709992 @default.
• W4283693236 creator A5041994767 @default.
• W4283693236 creator A5053698314 @default.
• W4283693236 creator A5054134106 @default.
• W4283693236 creator A5058361530 @default.
• W4283693236 creator A5063474741 @default.
• W4283693236 creator A5075137497 @default.
• W4283693236 creator A5091487204 @default.
• W4283693236 date "2022-06-28" @default.
• W4283693236 modified "2023-10-14" @default.
• W4283693236 title "Peripheral Ion Channel Gene Screening in Painful- and Painless-Diabetic Neuropathy" @default.
• W4283693236 cites W1599800045 @default.
• W4283693236 cites W1933343838 @default.
• W4283693236 cites W1974213802 @default.
• W4283693236 cites W1983420263 @default.
• W4283693236 cites W1988509137 @default.
• W4283693236 cites W1998467441 @default.
• W4283693236 cites W1999513543 @default.
• W4283693236 cites W2001638015 @default.
• W4283693236 cites W2011295158 @default.
• W4283693236 cites W2031446666 @default.
• W4283693236 cites W2038731679 @default.
• W4283693236 cites W2039718439 @default.
• W4283693236 cites W2041339949 @default.
• W4283693236 cites W2051573724 @default.
• W4283693236 cites W2051978340 @default.
• W4283693236 cites W2065155413 @default.
• W4283693236 cites W2084565925 @default.
• W4283693236 cites W2091502308 @default.
• W4283693236 cites W2111751035 @default.
• W4283693236 cites W2113737911 @default.
• W4283693236 cites W2119180969 @default.
• W4283693236 cites W2125649919 @default.
• W4283693236 cites W2128842689 @default.
• W4283693236 cites W2130138098 @default.
• W4283693236 cites W2149630429 @default.
• W4283693236 cites W2154536095 @default.
• W4283693236 cites W2161636334 @default.
• W4283693236 cites W2162902338 @default.
• W4283693236 cites W2164513741 @default.
• W4283693236 cites W2172373094 @default.
• W4283693236 cites W2280099523 @default.
• W4283693236 cites W2287464831 @default.
• W4283693236 cites W2491911250 @default.
• W4283693236 cites W2533592562 @default.
• W4283693236 cites W2541941721 @default.
• W4283693236 cites W2609171992 @default.
• W4283693236 cites W2767631641 @default.
• W4283693236 cites W2769408126 @default.
• W4283693236 cites W2775348817 @default.
• W4283693236 cites W2783968535 @default.
• W4283693236 cites W2885991981 @default.
• W4283693236 cites W2901895724 @default.
• W4283693236 cites W2904553519 @default.
• W4283693236 cites W2904731603 @default.
• W4283693236 cites W2912762225 @default.
• W4283693236 cites W2944329919 @default.
• W4283693236 cites W2987337568 @default.
• W4283693236 cites W2989862632 @default.
• W4283693236 cites W3024255267 @default.
• W4283693236 cites W3037975981 @default.
• W4283693236 cites W3046165584 @default.
• W4283693236 cites W3049475460 @default.
• W4283693236 cites W3082476674 @default.
• W4283693236 cites W3201079407 @default.
• W4283693236 cites W4211119836 @default.
• W4283693236 doi "https://doi.org/10.3390/ijms23137190" @default.
• W4283693236 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/35806193" @default.
• W4283693236 hasPublicationYear "2022" @default.
• W4283693236 type Work @default.
• W4283693236 citedByCount "7" @default.
• W4283693236 countsByYear W42836932362022 @default.
• W4283693236 countsByYear W42836932362023 @default.
• W4283693236 crossrefType "journal-article" @default.
• W4283693236 hasAuthorship W4283693236A5002957653 @default.
• W4283693236 hasAuthorship W4283693236A5005518749 @default.
• W4283693236 hasAuthorship W4283693236A5010307677 @default.
• W4283693236 hasAuthorship W4283693236A5013956389 @default.
• W4283693236 hasAuthorship W4283693236A5020224380 @default.
• W4283693236 hasAuthorship W4283693236A5024901730 @default.
• W4283693236 hasAuthorship W4283693236A5026945028 @default.
• W4283693236 hasAuthorship W4283693236A5028508521 @default.
• W4283693236 hasAuthorship W4283693236A5029709992 @default.
• W4283693236 hasAuthorship W4283693236A5041994767 @default.
• W4283693236 hasAuthorship W4283693236A5053698314 @default.
• W4283693236 hasAuthorship W4283693236A5054134106 @default.
• W4283693236 hasAuthorship W4283693236A5058361530 @default.
• W4283693236 hasAuthorship W4283693236A5063474741 @default.

• next