Evidence map›Paper›PMID 37664155›Full record

ArticleWorld journal of gastroenterology2023

Inherited CHEK2 p.H371Y mutation in solitary rectal ulcer syndrome among familial patients: A case report.

Cheng-Cheng He, Shan-Ping Wang, Pei-Rong Zhou, Zhi-Jun Li, Na Li, Ming-Song Li

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

Article in World journal of gastroenterology, 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
0.5field-weighted citation impact, top 27% 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, 2 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

6 authors at 1 institution in 1 country.

Cheng-Cheng HeDepartment of Gastroenterology, The Third Affiliated Hospital of Guangzhou Medical University, Guangzhou 510150, Guangdong Province, China.
Shan-Ping WangDepartment of Gastroenterology, The Third Affiliated Hospital of Guangzhou Medical University, Guangzhou 510150, Guangdong Province, China.
Pei-Rong ZhouDepartment of Gastroenterology, The Third Affiliated Hospital of Guangzhou Medical University, Guangzhou 510150, Guangdong Province, China.
Zhi-Jun LiDepartment of Gastroenterology, The Third Affiliated Hospital of Guangzhou Medical University, Guangzhou 510150, Guangdong Province, China.
Na LiDepartment of Gastroenterology, The Third Affiliated Hospital of Guangzhou Medical University, Guangzhou 510150, Guangdong Province, China.
Ming-Song LiDepartment of Gastroenterology, The Third Affiliated Hospital of Guangzhou Medical University, Guangzhou 510150, Guangdong Province, China. 2020683127@gzhmu.edu.cn.
Third Affiliated Hospital of Guangzhou Medical University · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundSolitary rectal ulcer syndrome (SRUS) is a rare rectal disease with unknown etiology. Data on the genetic background in SRUS is lacking. CASE SUMMARY: Here, we report the first case of SRUS in a mother-son relationship. Gene sequencing was conducted on the whole family, which revealed an inherited CHEK2 p.H371Y mutation. The experiment preliminarily revealed that the CHEK2 mutation did not affect the expression of CHEK2 protein, but affected the function of CHEK2, resulting in the expression level changes of downstream genes such as CDC25A.

conclusionSRUS is a genetic susceptibility disease where CHEK2 p.H371Y mutation may play a crucial role in the development and prognosis of SRUS.

Indexed as

Colonic DiseasesRectal DiseasesCheckpoint Kinase 2Genetic Predisposition to DiseaseGerm-Line MutationHumansRare DiseasesUlcerCheckpoint Kinase 2CHEK2 protein, humanCase reportCDC25ACHEK2 mutationGene sequencingGenetic backgroundSolitary rectal ulcer syndrome

Identifiers

PMID37664155
PMCPMC10473918
OpenAlexW4385981402

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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.