Evidence map›Paper›PMID 32956375›Full record

ArticlePLoS genetics2020

Candidate variants in TUB are associated with familial tremor.

M Reza Sailani, Fereshteh Jahanbani, Charles W Abbott, Hayan Lee, Amin Zia, Shannon Rego, Juliane Winkelmann, Franziska Hopfner, Tahir N Khan, Nicholas Katsanis and 8 more

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in PLoS genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
0.3field-weighted citation impact, top 39% 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

1 citing paper in PubMed, 4 citations in OpenAlex.

  1. Article
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

18 authors at 6 institutions in 2 countries.

M Reza SailaniDepartment of Genetics, Stanford University, Stanford, CA, United States of America.ORCID 0000-0003-3054-8838
Fereshteh JahanbaniDepartment of Genetics, Stanford University, Stanford, CA, United States of America.ORCID 0000-0002-5571-003X
Charles W AbbottDepartment of Genetics, Stanford University, Stanford, CA, United States of America.ORCID 0000-0002-3837-6471
Hayan LeeDepartment of Genetics, Stanford University, Stanford, CA, United States of America.ORCID 0000-0003-0571-3192
Amin ZiaDepartment of Genetics, Stanford University, Stanford, CA, United States of America.
Shannon RegoDepartment of Genetics, Stanford University, Stanford, CA, United States of America.ORCID 0000-0003-1910-7441
Juliane WinkelmannInstitute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany; Institute of Human Genetics, Technical University, Munich, Germany; Munich Cluster for Systems Neurology (SyNergy), Munich, Germany.
Franziska HopfnerDepartment of Neurology, Kiel University, Germany.
Tahir N KhanCenter for Human Disease Modeling, Duke University, United States of America.ORCID 0000-0003-3096-8795
Nicholas KatsanisCenter for Human Disease Modeling, Duke University, United States of America.
Stefanie H MüllerDepartment of Neurology, Kiel University, Germany.ORCID 0000-0002-4881-7293
Daniela BergDepartment of Neurology, Kiel University, Germany.
Katherine M LymanDepartment of Genetics, Stanford University, Stanford, CA, United States of America.ORCID 0000-0002-0389-9248
Christian MychajliwUniversity Hospital Tübingen, Department of Psychiatry and Psychotherapy, Tübingen, Germany.ORCID 0000-0002-9234-6046
Günther DeuschlDepartment of Neurology, Kiel University, Germany.
Jonathan A BernsteinDepartment of Pediatrics, Stanford University, Stanford, CA, United States of America.ORCID 0000-0001-5369-346X
Gregor KuhlenbäumerDepartment of Neurology, Kiel University, Germany.ORCID 0000-0002-3262-8113
Michael P SnyderDepartment of Genetics, Stanford University, Stanford, CA, United States of America.ORCID 0000-0003-0784-7987
Stanford University · USChristian-Albrechts-Universität zu Kiel · DEDuke University · USHelmholtz Zentrum München · DENorthwestern University · USUniversity Children's Hospital Tübingen · DE

Funding

High-throughput sequencer for multi-scale genomic studiesS10OD020141 · OD · STANFORD UNIVERSITY · PI SNYDER, MICHAEL P. · 2015 to 2015
$600k
NIH HHS S10 OD020141
6 · The paper itself

Abstract

Essential tremor (ET) is the most common adult-onset movement disorder. In the present study, we performed whole exome sequencing of a large ET-affected family (10 affected and 6 un-affected family members) and identified a TUB p.V431I variant (rs75594955) segregating in a manner consistent with autosomal-dominant inheritance. Subsequent targeted re-sequencing of TUB in 820 unrelated individuals with sporadic ET and 630 controls revealed significant enrichment of rare nonsynonymous TUB variants (e.g. rs75594955: p.V431I, rs1241709665: p.Ile20Phe, rs55648406: p.Arg49Gln) in the ET cohort (SKAT-O test p-value = 6.20e-08). TUB encodes a transcription factor predominantly expressed in neuronal cells and has been previously implicated in obesity. ChIP-seq analyses of the TUB transcription factor across different regions of the mouse brain revealed that TUB regulates the pathways responsible for neurotransmitter production as well thyroid hormone signaling. Together, these results support the association of rare variants in TUB with ET.

Indexed as

Adaptor Proteins, Signal TransducingAgedAged, 80 and overAnimalsChromatin Immunoprecipitation SequencingCohort StudiesEssential TremorExomeExome SequencingFamilyFemaleHumansMaleMice, Inbred C57BLMiddle AgedPedigreeAdaptor Proteins, Signal TransducingTranscription FactorsTUB protein, human

Identifiers

PMID32956375
PMCPMC7529431
OpenAlexW3087144713

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

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.