ArticleJournal of the Endocrine Society2017
Ethnicity of Patients With Germline
Article in Journal of the Endocrine Society, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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
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Who cites it
17 citing papers in PubMed, 35 citations in OpenAlex.
- Spatial transcriptomic analysis of mouse parathyroid gland cells expressing an activating variant ofJBMR plus · 2025Article
- Germline mutations of GCM2 cause a novel variant of hereditary primary hyperparathyroidism.Updates in surgery · 2025Article
- Heritable hyperparathyroidism: Genetic insights and clinical implications.Best practice & research. Clinical endocrinology & metabolism · 2025Review
- Progress report on multiple endocrine neoplasia type 1.Familial cancer · 2025Review
- Familial states of primary hyperparathyroidism: an update.Journal of endocrinological investigation · 2024Review
- Genetics of hereditary forms of primary hyperparathyroidism.Hormones (Athens, Greece) · 2024Review
- A Knock-In Mouse Model of theJournal of the Endocrine Society · 2023Article
- Molecular and Clinical Spectrum of Primary Hyperparathyroidism.Endocrine reviews · 2023Article
- Variant Tyr 394Ser in theJournal of the Endocrine Society · 2023Article
- Article
- Epidemiology, Pathophysiology, and Genetics of Primary Hyperparathyroidism.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2022Review
- Genetics of monogenic disorders of calcium and bone metabolism.Clinical endocrinology · 2022Review
- Germline Mutations Related to Primary Hyperparathyroidism Identified by Next-Generation Sequencing.Frontiers in endocrinology · 2022Review
- GCM2 Silencing in Parathyroid Adenoma Is Associated With Promoter Hypermethylation and Gain of Methylation on Histone 3.The Journal of clinical endocrinology and metabolism · 2021Article
- Five patients with disorders of calcium metabolism presented with GCM2 gene variants.Scientific reports · 2021Observational
- Familial Hyperparathyroidism.Frontiers in endocrinology · 2021Review
- Whole exome sequencing in familial isolated primary hyperparathyroidism.Journal of endocrinological investigation · 2020Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
9 authors at 5 institutions in 1 country.
Funding
Abstract
contextGermline gain-of-function variants in the transcription factor GCM2 were found in 18% of kindreds with familial isolated hyperparathyroidism (FIHP). These variants [c.1136T>A (p.Leu379Gln) and c.1181A>C (p.Tyr394Ser)] were located in a 17-amino acid transcriptional inhibitory domain named C-terminal conserved inhibitory domain (CCID).
objectiveWe investigated the ethnicity of individuals with germline variants in the
designEthnicity information was obtained from an in-house clinical database and genetic counseling. Sanger sequencing of blood DNA was used to determine the genotype of the SETTING AND PATIENTS: National Institute of Diabetes and Digestive and Kidney Diseases endocrine clinic is a service that accepts PHPT referral patients.
resultsThe
conclusionsSpecific
Indexed as
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.