prikaz prve stranice dokumenta Identification of rare genetic variation of NLRP1 gene in familial multiple sclerosis
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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 Više autora...

Institucijski repozitorij: Repozitorij Medicinskog fakulteta u Rijeci

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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, i sur.. Identification of rare genetic variation of NLRP1 gene in familial multiple sclerosis. Scientific Reports [Internet]. 16.06.2017. [pristupljeno 24.04.2024.];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, Lipanj 2017. [Online]. Dostupno na: https://urn.nsk.hr/urn:nbn:hr:184:043050. [Citirano: 24.04.2024.]

Za citiranje koristite ovu mrežnu adresu: https://urn.nsk.hr/urn:nbn:hr:184:043050
Podaci o radu
Naslov (engleski)Identification of rare genetic variation of NLRP1 gene in familial multiple sclerosis
AutorAles Maver
AutorPolona Lavtar
AutorSmiljana Ristić
AutorSanja Stopinšek
AutorSaša Simčić
AutorKeli Hočevar
AutorJuraj Sepčić
AutorJelena Drulović
AutorTatjana Pekmezović
AutorIvana Novaković
AutorAlenka Hodžić
AutorGorazd Rudolf
AutorSaša Šega
AutorNada Starčević-Čizmarević
AutorAnja Palandačić
AutorGordana Zamolo
AutorMiljenko Kapović
AutorTina Likar
AutorBorut Peterlin
Autorova ustanovaSveučilište u Rijeci
Medicinski fakultet
(Katedra za medicinsku biologiju i genetiku)
Znanstveno / umjetničko
područje, polje i grana		BIOMEDICINA I ZDRAVSTVO
Kliničke medicinske znanosti
Sažetak (engleski)
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.
Jezikengleski
Vrsta publikacijeZnanstveni rad - Izvorni znanstveni rad
Status objaveObjavljen
Vrsta recenzijeRecenziran - međunarodna recenzija
Verzija publikacijeObjavljena verzija rada (izdavačev PDF)
Naslov časopisaScientific Reports
Brojčani podacivol. 7, 3715
e-ISSN2045-2322
DOIhttps://doi.org/10.1038/s41598-017-03536-9
URN:NBNurn:nbn:hr:184:043050
Datum objave publikacije2017-06-16
URL dokumentahttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC5473861/
Vrsta resursaTekst
Prava pristupaOtvoreni pristup
Uvjeti korištenjaIkona licence Imenovanje-Dijeli pod istim uvjetima 4.0 međunarodna (CC BY-SA 4.0)
Datum i vrijeme pohrane2017-07-11 16:37:11