ArticleCase reports in endocrinology2015
Early Onset Primary Hyperparathyroidism Associated with a Novel Germline Mutation in CDKN1B.
Article in Case reports in endocrinology, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 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.
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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.
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Who cites it
21 citing papers in PubMed, 38 citations in OpenAlex.
- Multiple endocrine neoplasia type 4 (MEN4): a thorough update on the latest and least known men syndrome.Endocrine · 2023Review
- Molecular and Clinical Spectrum of Primary Hyperparathyroidism.Endocrine reviews · 2023Article
- Novel germline variants of CDKN1B and CDKN2C identified during screening for familial primary hyperparathyroidism.Journal of endocrinological investigation · 2023Article
- Multiple endocrine neoplasia type 4: a new member of the MEN family.Endocrine connections · 2023Article
- MEN4, the MEN1 Mimicker: A Case Series of three Phenotypically Heterogenous Patients With Unique CDKN1B Mutations.The Journal of clinical endocrinology and metabolism · 2022Article
- Case Report: New CDKN1B Mutation in Multiple Endocrine Neoplasia Type 4 and Brief Literature Review on Clinical Management.Frontiers in endocrinology · 2022Review
- Multiple Endocrine Neoplasia Type 1: Latest Insights.Endocrine reviews · 2021Review
- Familial Hyperparathyroidism.Frontiers in endocrinology · 2021Review
- Hereditary Parathyroid Disease: Sometimes Pathologists Do Not Know What They Are Missing.Endocrine pathology · 2020Review
- Clinical and Molecular Genetics of Primary Hyperparathyroidism.Hormone and metabolic research = Hormon- und Stoffwechselforschung = Hormones et metabolisme · 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
- Inherited syndromes involving pancreatic neuroendocrine tumors.Journal of gastrointestinal oncology · 2020Review
- Clinical Features of Multiple Endocrine Neoplasia Type 4: Novel Pathogenic Variant and Review of Published Cases.The Journal of clinical endocrinology and metabolism · 2019Review
- Landscape of CDKN1B Mutations in Luminal Breast Cancer and Other Hormone-Driven Human Tumors.Frontiers in endocrinology · 2018Review
- Questions and Controversies About Parathyroid Pathophysiology in Children With Multiple Endocrine Neoplasia Type 1.Frontiers in endocrinology · 2018Article
- MEN4 andEndocrine-related cancer · 2017Review
- MEN1 mutations and potentially MEN1-targeting miRNAs are responsible for menin deficiency in sporadic and MEN1 syndrome-associated primary hyperparathyroidism.Virchows Archiv : an international journal of pathology · 2017Article
- Loss of p27 expression is associated with MEN1 gene mutations in sporadic parathyroid adenomas.Endocrine · 2017Article
- Article
- Molecular genetics in primary hyperparathyroidism: the role of genetic tests in differential diagnosis, disease prevention strategy, and therapeutic planning. A 2017 update.Clinical cases in mineral and bone metabolism : the official journal of the Italian Society of Osteoporosis, Mineral Metabolism, and Skeletal DiseasesReview
Corrections and comments
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Individuals presenting with primary hyperparathyroidism (PHPT) at a young age commonly have an underlying germline gene mutation in one of the following genes: MEN1, CASR, or CDC73. A small number of families with primary hyperparathyroidism have been identified with germline mutations in CDKN1B and those patients with primary hyperparathyroidism have almost exclusively been women who present in middle age suggesting that the age of onset of PHPT in MEN4 may be later than that of MEN1. We present a case of apparently sporadic PHPT presenting in adolescence with single gland disease associated with a novel CDKN1B germline mutation (heterozygote for a missense mutation in exon 1 of the CDKN1B gene (c.378G>C) (p.E126D)). The implication from this case is that CDKN1B germline mutations may be associated with PHPT at an earlier age than previously thought.
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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.