prikaz prve stranice dokumenta Identification of rare genetic variation of NLRP1 gene in familial multiple sclerosis
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Scientific paper - Original scientific paper
Identification of rare genetic variation of NLRP1 gene in familial multiple sclerosis
Scientific Reports, 7 (2017); 3715. https://doi.org/10.1038/s41598-017-03536-9
Maver, Ales; Lavtar, Polona; Ristić, Smiljana; Stopinšek, Sanja; Simčić, Saša; Hočevar, Keli; Sepčić, Juraj; Drulović, Jelena; Pekmezović, Tatjana; Novaković, Ivana; Hodžić, Alenka; Rudolf, Gorazd; Šega, Saša; Starčević-Čizmarević, Nada; Palandačić, Anja; Zamolo, Gordana; Kapović, Miljenko; Likar, Tina; Peterlin, Borut More authors...

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Maver, A., Lavtar, P., Ristić, S., Stopinšek, S., Simčić, S., Hočevar, K. ... Peterlin, B. (2017). Identification of rare genetic variation of NLRP1 gene in familial multiple sclerosis. Scientific Reports, 7.. doi: 10.1038/s41598-017-03536-9

Maver, Ales, et al. "Identification of rare genetic variation of NLRP1 gene in familial multiple sclerosis." Scientific Reports, vol. 7, 2017. https://doi.org/10.1038/s41598-017-03536-9

Maver, Ales, Polona Lavtar, Smiljana Ristić, Sanja Stopinšek, Saša Simčić, Keli Hočevar, Juraj Sepčić, et al. "Identification of rare genetic variation of NLRP1 gene in familial multiple sclerosis." Scientific Reports 7 (2017). https://doi.org/10.1038/s41598-017-03536-9

Maver, A., et al. (2017) 'Identification of rare genetic variation of NLRP1 gene in familial multiple sclerosis', Scientific Reports, 7. doi: 10.1038/s41598-017-03536-9

Maver A, Lavtar P, Ristić S, Stopinšek S, Simčić S, Hočevar K, and sur.. Identification of rare genetic variation of NLRP1 gene in familial multiple sclerosis. Scientific Reports [Internet]. 2017 June 16 [cited 2024 November 24];7. doi: 10.1038/s41598-017-03536-9

A. Maver, et al., "Identification of rare genetic variation of NLRP1 gene in familial multiple sclerosis", Scientific Reports, vol. 7, June 2017. [Online]. Available at: https://urn.nsk.hr/urn:nbn:hr:184:043050. [Accessed: 24 November 2024]

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Metadata
Title (english)Identification of rare genetic variation of NLRP1 gene in familial multiple sclerosis
AuthorAles Maver
AuthorPolona Lavtar
AuthorSmiljana Ristić
AuthorSanja Stopinšek
AuthorSaša Simčić
AuthorKeli Hočevar
AuthorJuraj Sepčić
AuthorJelena Drulović
AuthorTatjana Pekmezović
AuthorIvana Novaković
AuthorAlenka Hodžić
AuthorGorazd Rudolf
AuthorSaša Šega
AuthorNada Starčević-Čizmarević
AuthorAnja Palandačić
AuthorGordana Zamolo
AuthorMiljenko Kapović
AuthorTina Likar
AuthorBorut Peterlin
Author's institutionUniversity of Rijeka
Faculty of Medicine
(Department of Biology and Medical Genetics)
Scientific / art field,
discipline and subdiscipline		BIOMEDICINE AND HEALTHCARE
Clinical Medical Sciences
Abstract (english)
The genetic etiology and the contribution of rare genetic variation in multiple sclerosis (MS) has not yet been elucidated. Although familial forms of MS have been described, no convincing rare and penetrant variants have been reported to date. We aimed to characterize the contribution of rare genetic variation in familial and sporadic MS and have identified a family with two sibs affected by concomitant MS and malignant melanoma (MM). We performed whole exome sequencing in this primary family and 38 multiplex MS families and 44 sporadic MS cases and performed transcriptional and immunologic assessment of the identified variants. We identified a potentially causative homozygous missense variant in NLRP1 gene (Gly587Ser) in the primary family. Further possibly pathogenic NLRP1 variants were identified in the expanded cohort of patients. Stimulation of peripheral blood mononuclear cells from MS patients with putatively pathogenic NLRP1 variants showed an increase in IL-1B gene expression and active cytokine IL-1β production, as well as global activation of NLRP1-driven immunologic pathways. We report a novel familial association of MS and MM, and propose a possible underlying genetic basis in NLRP1 gene. Furthermore, we provide initial evidence of the broader implications of NLRP1-related pathway dysfunction in MS.
Languageenglish
Publication typeScientific paper - Original scientific paper
Publication statusPublished
Peer reviewPeer review - international
Publication versionPublished version
Journal titleScientific Reports
Numberingvol. 7, 3715
e-ISSN2045-2322
DOIhttps://doi.org/10.1038/s41598-017-03536-9
URN:NBNurn:nbn:hr:184:043050
Publication2017-06-16
Document URLhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC5473861/
Type of resourceText
Access conditionsOpen access
Terms of useLicence Attribution-ShareAlike 4.0 International (CC BY-SA 4.0) icon
Created on2017-07-11 16:37:11