Evidence map›Paper›PMID 36292575›Full record

ArticleGenes2022

Whole-Exome Sequencing Reveals Pathogenic SIRT1 Variant in Brain Arteriovenous Malformation: A Case Report.

Kymbat Mukhtarova, Elena Zholdybayeva, Ulykbek Kairov, Ilyas Akhmetollayev, Chingiz Nurimanov, Marat Kulmirzayev, Yerbol Makhambetov, Yerlan Ramankulov

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

Article in Genes, 2022. 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
0.5field-weighted citation impact, top 34% 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. 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

8 authors at 2 institutions in 1 country.

Kymbat MukhtarovaNational Center for Biotechnology, 13/5 Kurgalzhynskoye Road, Astana 010000, Kazakhstan.
Elena ZholdybayevaNational Center for Biotechnology, 13/5 Kurgalzhynskoye Road, Astana 010000, Kazakhstan.
Ulykbek KairovLaboratory of Bioinformatics and Systems Biology, Center for Life Science, National Laboratory Astana, Nazarbayev University, 53 Kabanbay Batyr Ave., Astana 010000, Kazakhstan.ORCID 0000-0001-8511-8064
Ilyas AkhmetollayevNational Center for Biotechnology, 13/5 Kurgalzhynskoye Road, Astana 010000, Kazakhstan.
Chingiz NurimanovNational Center of Neurosurgery, 34/1 Turan Street, Astana 010000, Kazakhstan.
Marat KulmirzayevNational Center of Neurosurgery, 34/1 Turan Street, Astana 010000, Kazakhstan.
Yerbol MakhambetovNational Center of Neurosurgery, 34/1 Turan Street, Astana 010000, Kazakhstan.ORCID 0000-0003-1180-4285
Yerlan RamankulovNational Center for Biotechnology, 13/5 Kurgalzhynskoye Road, Astana 010000, Kazakhstan.
National Center for Biotechnology · KZNazarbayev University · KZ

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Arteriovenous malformations of the brain (bAVMs) are plexuses of pathological arteries and veins that lack a normal capillary system between them. Intracranial hemorrhage (hemorrhagic stroke) is the most frequent clinical manifestation of AVM, leading to lethal outcomes that are especially high among children and young people. Recently, high-throughput genome sequencing methods have made a notable contribution to the research progress in this subject. In particular, whole-exome sequencing (WES) methods allow the identification of novel mutations. However, the genetic mechanism causing AVM is still unclear. Therefore, the aim of this study was to investigate the potential genetic mechanism underlying AVM. We analyzed the WES data of blood and tissue samples of a 30-year-old Central Asian male diagnosed with AVM. We identified 54 polymorphisms in 43 genes. After in-silica overrepresentation enrichment analysis of the polymorphisms, the SIRT1 gene variant (g.67884831C>T) indicated a possible molecular mechanism of bAVM. Further studies are required to evaluate the functional impact of SIRT1 g.67884831C>T, which may warrant further replication and biological investigations related to sporadic bAVM.

Indexed as

Intracranial Arteriovenous MalformationsSirtuin 1AdolescentAdultBrainChildExome SequencingHumansMaleSilicon DioxideSilicon DioxideSIRT1 protein, humanSirtuin 1brain arteriovenous malformationcase studySNPsomatic mutationswhole exome sequencing

Identifiers

PMID36292575
PMCPMC9601721
OpenAlexW4296625303

What Socratic 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 Socratic graph.