ArticleGastric cancer : official journal of the International Gastric Cancer Association and the Japanese Gastric Cancer Association2017
A cumulative effect involving malfunction of the PTH1R and ATP4A genes explains a familial gastric neuroendocrine tumor with hypothyroidism and arthritis.
Article in Gastric cancer : official journal of the International Gastric Cancer Association and the Japanese Gastric Cancer Association, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed, 14 citations in OpenAlex.
- A novel PTH1R missense variant in a patient with early-onset primary hyperparathyroidism.Bone reports · 2026Article
- Progression after endoscopic treatment for type I gastric neuroendocrine tumors: A single-center retrospective study.World journal of gastroenterology · 2026Article
- Genome wide association study of thyroid hormone levels following challenge with porcine reproductive and respiratory syndrome virus.Frontiers in genetics · 2023Article
- Article
- Case Report: CMV Infection and Same Mechanism-Originated Intestinal Inflammation Compatible With Bowel/Crohn's Disease Is Suggested in ATP4A Mutated-Driven Gastric Neuroendocrine Tumors.Frontiers in medicine · 2021Article
- Immune Infiltration in Gastric Cancer Microenvironment and Its Clinical Significance.Frontiers in cell and developmental biology · 2021Article
- Clinicopathological characteristics and prognosis of 77 cases with type 3 gastric neuroendocrine tumours.World journal of gastrointestinal oncology · 2020Article
- Identification of an Individualized Prognostic Signature Based on the RWSR Model in Early-Stage Bladder Carcinoma.BioMed research international · 2020Article
- A genetic origin for acid-base imbalance triggers the mitochondrial damage that explains the autoimmune response and drives to gastric neuroendocrine tumours.Gastric cancer : official journal of the International Gastric Cancer Association and the Japanese Gastric Cancer Association · 2020Article
- MicroRNA-140-5p inhibits cell proliferation, migration and promotes cell apoptosis in gastric cancer through the negative regulation of THY1-mediated Notch signaling.Bioscience reports · 2019Article
- Identify gene expression pattern change at transcriptional and post-transcriptional levels.Transcription · 2019Article
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Authors and funding
5 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundType I gastric neuroendocrine tumors (gNETs) classically arise because of hypergastrinemia and involve destruction of parietal cells, which are responsible for gastric acid secretion through the ATP4A proton pump and for intrinsic factor production.
methodsBy whole exome sequencing, we studied a family with three members with gNETs plus hypothyroidism and rheumatoid arthritis to uncover their genetic origin.
resultsA heterozygous missense mutation in the ATP4A gene was identified. Carriers of this variant had low ferritin and vitamin B
conclusionBoth mutations suggest that a collaborative mechanism is operative in this family, in which mutations in these genes affect the function and viability of parietal cells and lead to the achlorhydria that drives hypergastrinemia and the formation of gNETs.
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