ArticleEndocrine-related cancer2016
Screening for GPR101 defects in pediatric pituitary corticotropinomas.
Article in Endocrine-related cancer, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers, 1 of them a synthesis that pooled it.
What it found
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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.
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.
Who cites it
12 citing papers in PubMed, 1 synthesis or guideline pooled it, 29 citations in OpenAlex.
- Clinical Relevance of Genetic Analysis in Patients With Pituitary Adenomas: A Systematic Review.Frontiers in endocrinology · 2019Pooled it
- Genetic drivers of Cushing's disease: Frequency and associated phenotypes.Genetics in medicine : official journal of the American College of Medical Genetics · 2022Article
- Concurrent mutations of germline GPR101 and somatic USP8 in a pediatric giant pituitary ACTH adenoma: a case report.BMC endocrine disorders · 2022Article
- The clinical aspects of pituitary tumour genetics.Endocrine · 2021Review
- Novel Insights into Pituitary Tumorigenesis: Genetic and Epigenetic Mechanisms.Endocrine reviews · 2020Review
- Germline CDKN1B Loss-of-Function Variants Cause Pediatric Cushing's Disease With or Without an MEN4 Phenotype.The Journal of clinical endocrinology and metabolism · 2020Article
- Cushing syndrome: Old and new genes.Best practice & research. Clinical endocrinology & metabolism · 2020Review
- Rare GermlineFrontiers in endocrinology · 2020Article
- The causes and consequences of pituitary gigantism.Nature reviews. Endocrinology · 2018Review
- An update on the genetics of benign pituitary adenomas in children and adolescents.Current opinion in endocrine and metabolic research · 2018Article
- Genetics of Cushing's Syndrome.Endocrinology and metabolism clinics of North America · 2018Review
- Loss-of-function mutations in theEndocrine-related cancer · 2017Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
14 authors at 7 institutions in 2 countries.
Funding
Abstract
Cushing disease (CD) in children is caused by adrenocorticotropic hormone (ACTH)-secreting pituitary adenomas. Germline or somatic mutations in genes such as MEN1, CDKIs, AIP, and USP8 have been identified in pediatric CD, but the genetic defects in a significant percentage of cases are still unknown. We investigated the orphan G protein-coupled receptor GPR101, a gene known to be involved in somatotropinomas, for its possible involvement in corticotropinomas. We performed GPR101 sequencing, expression analyses by RT-qPCR and immunostaining, and functional studies (cell proliferation, pituitary hormones secretion, and cAMP measurement) in a series of patients with sporadic CD secondary to ACTH-secreting adenomas in whom we had peripheral and tumor DNA (N=36). No increased GPR101 expression was observed in tumors compared to normal pituitary (NP) tissues, nor did we find a correlation between GPR101 and ACTH expression levels. Sequence analysis revealed a very rare germline heterozygous GPR101 variant (p.G31S) in one patient with CD. Overexpression of the p.G31S variant did not lead to increased growth and proliferation, although modest effects on cAMP signaling were seen. GPR101 is not overexpressed in ACTH-secreting tumors compared to NPs. A rare germline GPR101 variant was found in one patient with CD but in vitro studies did not support a consistent pathogenic effect. GPR101 is unlikely to be involved in the pathogenesis of CD.
Identifiers
What OpenQuestion holds
Registered trials
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.