Evidence map›Paper›PMID 28988323›Full record

ArticleImmunogenetics2018

Analysis of NOD-like receptor NLRP1 in multiple sclerosis families.

Cecily Q Bernales, Mary Encarnacion, Maria G Criscuoli, Irene M Yee, Anthony L Traboulsee, A Dessa Sadovnick, Carles Vilariño-Güell

Abstract read
PubMed Publisher
In one paragraph

Article in Immunogenetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.

0numbers the graph read from it
0cells of the map it votes in
14citing papers in PubMed
0.9field-weighted citation impact, top 26% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

14 citing papers in PubMed, 17 citations in OpenAlex.

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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

7 authors at 2 institutions in 1 country.

Cecily Q BernalesDepartment of Medical Genetics, University of British Columbia, 5639-2215 Wesbrook Mall, Vancouver, BC, V6T 1Z3, Canada.
Mary EncarnacionDepartment of Medical Genetics, University of British Columbia, 5639-2215 Wesbrook Mall, Vancouver, BC, V6T 1Z3, Canada.
Maria G CriscuoliDepartment of Medical Genetics, University of British Columbia, 5639-2215 Wesbrook Mall, Vancouver, BC, V6T 1Z3, Canada.
Irene M YeeDepartment of Medical Genetics, University of British Columbia, 5639-2215 Wesbrook Mall, Vancouver, BC, V6T 1Z3, Canada.
Anthony L TraboulseeDivision of Neurology, Faculty of Medicine, University of British Columbia, Vancouver, BC, Canada.
A Dessa SadovnickDepartment of Medical Genetics, University of British Columbia, 5639-2215 Wesbrook Mall, Vancouver, BC, V6T 1Z3, Canada.
Carles Vilariño-GüellDepartment of Medical Genetics, University of British Columbia, 5639-2215 Wesbrook Mall, Vancouver, BC, V6T 1Z3, Canada. carles@can.ubc.ca.ORCID 0000-0002-5612-5940
University of British Columbia · CAUniversity of British Columbia Hospital · CA

Funding

Canada Research Chairs 950-228408CIHR MOP-137051Institute of Genetics MOP-137051Michael Smith Foundation for Health Research 16827Milan & Maureen Ilich Foundation 11-32095000Vancouver Foundation ADV14-1597
6 · The paper itself

Abstract

The implementation of exome sequencing technologies has started to unravel the genetic etiology of familial multiple sclerosis (MS). A homozygote p.G587S mutation in NLRP1 has been suggested as potentially causative for the onset of MS in an affected sibling pair, who later developed malignant melanoma. To validate the proposed role of recessive NLRP1 mutations in the pathological mechanisms of MS, we examined exome sequencing data from 326 MS patients from Canada for the identification of NLRP1 missense and nonsense variants. This analysis did not identify the previously described p.G587S mutation; however, three patients with potential NLRP1 compound heterozygote mutations were observed. Haplotype and segregation analyses indicate that the variants observed in these patients were inherited in cis, and do not segregate with disease within families. Thus, the analysis of MS patients from Canada failed to identify potentially pathogenic mutations in NLRP1, including the previously described p.G587S mutation. Further studies are necessary to confirm a role of NLRP1 in the pathophysiology of MS.

Indexed as

Genetic Predisposition to DiseaseAdaptor Proteins, Signal TransducingAdultApoptosis Regulatory ProteinsCodon, NonsenseExomeExome SequencingFemaleGenotypeHaplotypesHeterozygoteHomozygoteHumansMaleMiddle AgedMultiple SclerosisAdaptor Proteins, Signal TransducingApoptosis Regulatory ProteinsCodon, NonsenseNLRP1 protein, humanNLR ProteinsFamilialMultiple sclerosisMutationNLRP1NOD-like receptors

Identifiers

PMID28988323
OpenAlexW2761450067

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.