ArticleEndocrine2015
Early onset acromegaly associated with a novel deletion in CDKN1B 5'UTR region.
Article in Endocrine, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.
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Who cites it
27 citing papers in PubMed, 62 citations in OpenAlex.
- Genetics of familial acromegaly and pituitary gigantism.The Journal of clinical endocrinology and metabolism · 2026Review
- Pituitary Neuroendocrine Tumors in Multiple Endocrine Neoplasia.Endocrinology and metabolism (Seoul, Korea) · 2025Review
- Childhood Multiple Endocrine Neoplasia (MEN) Syndromes: Genetics, Clinical Heterogeneity and Modifying Genes.Journal of clinical medicine · 2024Review
- Familial states of primary hyperparathyroidism: an update.Journal of endocrinological investigation · 2024Review
- The potential link between acromegaly and risk of acute ischemic stroke in patients with pituitary adenoma: a new perspective.Acta neurologica Belgica · 2024Review
- Tall stature and gigantism in transition age: clinical and genetic aspects-a literature review and recommendations.Journal of endocrinological investigation · 2024Review
- Multiple endocrine neoplasia type 4 (MEN4): a thorough update on the latest and least known men syndrome.Endocrine · 2023Review
- 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
- Genetics of Acromegaly and Gigantism.Journal of clinical medicine · 2021Review
- 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
- The Genetics of Pituitary Adenomas.Journal of clinical medicine · 2019Review
- 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
- Landscape of CDKN1B Mutations in Luminal Breast Cancer and Other Hormone-Driven Human Tumors.Frontiers in endocrinology · 2018Review
- MEN4 andEndocrine-related cancer · 2017Review
- Loss-of-function mutations in theEndocrine-related cancer · 2017Article
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Authors and funding
11 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Genetic alterations frequently are involved in the development of a pituitary adenoma in young age. We here characterize the functional role of a deletion in CDKN1B 5'-UTR region (c.-29_-26delAGAG) identified in an acromegalic patient that developed a growth hormone in pituitary adenoma during childhood. Our results show that the identified novel heterozygous deletion in the CDKN1B 5'-UTR region associates with a reduction in CDKN1B mRNA levels, a predicted altered secondary mRNA structure, and a reduced CDKN1B 5'-UTR transcriptional activity in vitro. The patient displayed loss of heterozygosity in the same CDKN1B 5'-UTR region at tissue level and the 5'UTR region containing the deleted sequence encompasses a GRE. These findings indicate that the identification of functional alterations of newly discovered genetic derangements need to be fully characterized and always correlated with the clinical manifestations.
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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.