ReviewJournal of endocrinological investigation2013
Multiple endocrine neoplasia syndromes associated with mutation of p27.
Review in Journal of endocrinological investigation, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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Who cites it
22 citing papers in PubMed, 47 citations in OpenAlex.
- Neuroendocrine Tumors: Germline Genetics and Hereditary Syndromes.Current treatment options in oncology · 2025Review
- Heterogeneous Transcriptional Landscapes in Human Sporadic Parathyroid Gland Tumors.International journal of molecular sciences · 2024Article
- Familial states of primary hyperparathyroidism: an update.Journal of endocrinological investigation · 2024Review
- Pineocytoma in a child with Pallister-Killian syndrome: a case report and review of the literature.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2024Review
- Gastric neuroendocrine tumors in aWorld journal of gastrointestinal oncology · 2023Article
- Co-Occurrence of Pallister-Killian Syndrome and Burkitt Lymphoma in a Patient with Near-Normal Neurocognitive Development.Molecular syndromology · 2023Article
- Multiple endocrine neoplasia type 4: a new member of the MEN family.Endocrine connections · 2023Article
- An Unanticipated Modulation of Cyclin-Dependent Kinase Inhibitors: The Role of Long Non-Coding RNAs.Cells · 2022Review
- Molecular Pathology of Well-Differentiated Gastro-entero-pancreatic Neuroendocrine Tumors.Endocrine pathology · 2021Review
- Hereditary Parathyroid Disease: Sometimes Pathologists Do Not Know What They Are Missing.Endocrine pathology · 2020Review
- Multiple endocrine neoplasia-like syndrome in 24 baboons (Papio spp.).Journal of medical primatology · 2018Article
- Genetics of Cushing's Syndrome.Endocrinology and metabolism clinics of North America · 2018Review
- Loss-of-function mutations in theEndocrine-related cancer · 2017Article
- Multiple Endocrine Neoplasia and Hyperparathyroid-Jaw Tumor Syndromes: Clinical Features, Genetics, and Surveillance Recommendations in Childhood.Clinical cancer research : an official journal of the American Association for Cancer Research · 2017Review
- Loss of p27 expression is associated with MEN1 gene mutations in sporadic parathyroid adenomas.Endocrine · 2017Article
- Article
- Towards a new classification of gastroenteropancreatic neuroendocrine neoplasms.Nature reviews. Clinical oncology · 2016Review
- PTH and Vitamin D.Comprehensive Physiology · 2016Review
- Article
- MicroRNA deregulation in parathyroid tumours suggests an embryonic signature.Journal of endocrinological investigation · 2015Review
Corrections and comments
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Authors and funding
2 authors at 1 institution in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Multiple endocrine neoplasias (MEN) are autosomal dominant disorders characterized by the occurrence of tumors in at least two endocrine glands. Until recently, two MEN syndromes were known, i.e. the MEN type 1 (MEN1) and type 2 (MEN2), which are caused by germline mutations in the MEN1 and RET genes, respectively. These two syndromes are characterized by a different tumor spectrum. A few years ago we described a variant of the MEN syndromes, which spontaneously developed in a rat colony and was named MENX. Affected animals consistently develop multiple endocrine tumors, with a spectrum that shares features with both MEN1 and MEN2 human syndromes. Genetic studies identified a germline mutation in the Cdkn1b gene, encoding the p27 cell cycle inhibitor, as the causative mutation for MENX. Capitalizing on these findings, germline mutations in the human homologue, CDKN1B, were searched for and identified in patients with multiple endocrine tumors. As a consequence of this discovery, a novel human MEN syndrome, named MEN4, was recognized, which is caused by heterozygous mutations in p27. These studies identified Cdkn1b/CDKN1B as a novel tumor susceptibility gene for multiple endocrine tumors in both rats and humans. Here we review the characteristics of the MENX and MEN4 syndromes and we briefly address the main function of p27 and how it is affected by MENX- or MEN4-associated mutations.
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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.