Evidence map›Paper›PMID 37761855›Full record

ArticleGenes2023

Four Novel Disease-Causing Variants in the

Fatima Bostanova, Polina Tsygankova, Ilya Nagornov, Elena Dadali, Lyudmila Bessonova, Aleksey Kulesh, Viktor Drobakha, Irina Danchenko, Ilya Kanivets, Ekaterina Zakharova

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

Article in Genes, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
0.2field-weighted citation impact, top 42% 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

0 citing papers in PubMed, 1 citations in OpenAlex.

No citing paper in PubMed yet.

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

10 authors at 3 institutions in 1 country.

Fatima BostanovaResearch Centre for Medical Genetics, Moscow 115522, Russia.ORCID 0000-0002-5337-1775
Polina TsygankovaResearch Centre for Medical Genetics, Moscow 115522, Russia.ORCID 0000-0003-3998-3609
Ilya NagornovResearch Centre for Medical Genetics, Moscow 115522, Russia.
Elena DadaliResearch Centre for Medical Genetics, Moscow 115522, Russia.
Lyudmila BessonovaResearch Centre for Medical Genetics, Moscow 115522, Russia.
Aleksey KuleshDepartment of Neurology and Medical Genetics, Vagner Perm State Medical University, Perm 614990, Russia.
Viktor DrobakhaDepartment of Neurology and Medical Genetics, Vagner Perm State Medical University, Perm 614990, Russia.
Irina DanchenkoPerm Regional Clinical Hospital Perm Multiple Sclerosis Center, Perm 614015, Russia.
Ilya KanivetsMedical Center Genomed, Perm 614036, Russia.
Ekaterina ZakharovaResearch Centre for Medical Genetics, Moscow 115522, Russia.
Research Centre for Medical Genetics · RUPerm State Medical Academy · RUPerm Regional Oncology Center · RU

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundCerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an inherited disease with unknown mechanisms and a broad phenotypic spectrum. It is caused by pathogenic variants in the CASE PRESENTATION: Peripheral blood samples were collected from five patients from four unrelated families to extract genomic DNA. In four patients, analysis of exons 2, 3, 4, 5, 6 and adjacent intronic regions of the

conclusionWe found four previously undescribed pathogenic variants in the

Indexed as

CADASILReceptor, Notch3AdultExonsFemaleHumansMaleMiddle AgedMutationMutation, MissensePedigreeRussiaNOTCH3 protein, humanReceptor, Notch3CADASILnext-generation sequencing (NGS)targeted gene sequencingthe NOTCH3 gene

Identifiers

PMID37761855
PMCPMC10531103
OpenAlexW4386255292

What OpenQuestion holds

Textmetadata
LicenceCC BY
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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.