Evidence map›Paper›PMID 38891944›Full record

ArticleInternational journal of molecular sciences2024

Structural Variants and Implicated Processes Associated with Familial Tourette Syndrome.

Jakub P Fichna, Mateusz Chiliński, Anup Kumar Halder, Paweł Cięszczyk, Dariusz Plewczynski, Cezary Żekanowski, Piotr Janik

Abstract read
In one paragraph

Article in International journal of molecular sciences, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
–field-weighted citation impact
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

2 citing papers in PubMed.

  1. Review
  2. Review
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.

Jakub P FichnaDepartment of Neurogenetics and Functional Genomics, Mossakowski Medical Research Institute, Polish Academy of Sciences, 02-106 Warsaw, Poland.ORCID 0000-0002-4077-4807
Mateusz ChilińskiLaboratory of Bioinformatics and Computational Genomics, Faculty of Mathematics and Information Science, Warsaw University of Technology, 00-662 Warsaw, Poland.ORCID 0000-0001-6641-8504
Anup Kumar HalderLaboratory of Bioinformatics and Computational Genomics, Faculty of Mathematics and Information Science, Warsaw University of Technology, 00-662 Warsaw, Poland.ORCID 0000-0003-4825-1901
Paweł CięszczykFaculty of Physical Education, Gdansk University of Physical Education and Sport, Górskiego 1 Street, 80-336 Gdansk, Poland.ORCID 0000-0002-7735-7580
Dariusz PlewczynskiLaboratory of Bioinformatics and Computational Genomics, Faculty of Mathematics and Information Science, Warsaw University of Technology, 00-662 Warsaw, Poland.ORCID 0000-0002-3840-7610
Cezary ŻekanowskiDepartment of Neurogenetics and Functional Genomics, Mossakowski Medical Research Institute, Polish Academy of Sciences, 02-106 Warsaw, Poland.ORCID 0000-0001-7332-8494
Piotr JanikDepartment of Neurology, Medical University of Warsaw, 02-091 Warsaw, Poland.ORCID 0000-0002-2701-191X

Funding

Ministry of Science and Higher Education, Poland 7054/IA/SP/2020National Agency for Academic Exchange, Poland PPN/STA/2021/1/00087/DEC/1National Science Center, Poland 2019/35/O/ST6/02484National Science Center, Poland 2020/37/B/NZ2/03757National Science Center, Poland UMO-2016/23/B/NZ2/03030
6 · The paper itself

Abstract

Gilles de la Tourette syndrome (GTS) is a neurodevelopmental psychiatric disorder with complex and elusive etiology with a significant role of genetic factors. The aim of this study was to identify structural variants that could be associated with familial GTS. The study group comprised 17 multiplex families with 80 patients. Structural variants were identified from whole-genome sequencing data and followed by co-segregation and bioinformatic analyses. The localization of these variants was used to select candidate genes and create gene sets, which were subsequently processed in gene ontology and pathway enrichment analysis. Seventy putative pathogenic variants shared among affected individuals within one family but not present in the control group were identified. Only four private or rare deletions were exonic in

Indexed as

PedigreeTourette SyndromeAdultExtracellular Matrix ProteinsFemaleGenetic Predisposition to DiseaseHumansMaleWhole Genome SequencingExtracellular Matrix ProteinsUSH2A protein, humanCNVcopy numberduplicationinversionmisophonianeurexinpolygenicschizophreniatic disordersvariant burden

Identifiers

PMID38891944
PMCPMC11171586

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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.