ArticleWorld journal of gastroenterology2021
Detection and analysis of common pathogenic germline mutations in Peutz-Jeghers syndrome.
Article in World journal of gastroenterology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
What it found
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Who cites it
7 citing papers in PubMed, 12 citations in OpenAlex.
- [Colonoscopy in infants: procedure and disease spectrum analysis of 184 cases].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2025Article
- Comprehensively Testing the Function of Missense Variation in thebioRxiv : the preprint server for biology · 2025Article
- [Current research status of Peutz-Jeghers syndrome in children].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2024Review
- Will AMPK be a potential therapeutic target for hepatocellular carcinoma?American journal of cancer research · 2024Review
- Cancer Risk of Peutz-Jeghers Syndrome and Treatment Experience: A Chinese Medical Center.Clinics in colon and rectal surgery · 2023Review
- The Progress of Colorectal Polyposis Syndrome in Chinese Population.Clinics in colon and rectal surgery · 2023Review
- Altered Gut Microbiota in Patients With Peutz-Jeghers Syndrome.Frontiers in microbiology · 2022Article
Corrections and comments
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Authors and funding
7 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundDifferent types of pathogenic mutations may produce different clinical phenotypes, but a correlation between Peutz-Jeghers syndrome (PJS) genotype and clinical phenotype has not been found. Not all patients with PJS have detectable mutations of the
aimThe aim was to investigate the specific gene mutation of PJS, and the correlation between the genotype and clinical phenotype of PJS.
methodsA total of 24 patients with PJS admitted to the Air Force Medical Center, PLA (formerly the Air Force General Hospital, PLA) from November 1994 to January 2020 were randomly selected for inclusion in the study. One hundred thirty-nine common hereditary tumor-related genes including
resultsTwenty of the 24 PJS patients in this group (83.3%) had
conclusionPJS has a relatively complicated genetic background. Changes in the sites responsible for coding functional proteins in exon 1 and exon 4 of
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