Evidence map›Paper›PMID 23800691›Full record

ReviewJournal of endocrinological investigation2013

Multiple endocrine neoplasia syndromes associated with mutation of p27.

M Lee, N S Pellegata

Abstract readReview
PubMed Publisher
In one paragraph

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.

0numbers the graph read from it
0cells of the map it votes in
22citing papers in PubMed
2.5field-weighted citation impact, top 11% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

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.

2 · The registry

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.

3 · Its place in the literature

Who cites it

22 citing papers in PubMed, 47 citations in OpenAlex.

  1. Neuroendocrine Tumors: Germline Genetics and Hereditary Syndromes.Current treatment options in oncology · 2025
    Review
  2. Article
  3. Familial states of primary hyperparathyroidism: an update.Journal of endocrinological investigation · 2024
    Review
  4. 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 · 2024
    Review
  5. Gastric neuroendocrine tumors in aWorld journal of gastrointestinal oncology · 2023
    Article
  6. Article
  7. Article
  8. Review
  9. Review
  10. Review
  11. Article
  12. Genetics of Cushing's Syndrome.Endocrinology and metabolism clinics of North America · 2018
    Review
  13. Loss-of-function mutations in theEndocrine-related cancer · 2017
    Article
  14. 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 · 2017
    Review
  15. Article
  16. Article
  17. Review
  18. PTH and Vitamin D.Comprehensive Physiology · 2016
    Review
  19. Article
  20. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

2 authors at 1 institution in 2 countries.

M LeeInstitute of Pathology, Helmholtz Zentrum München-German Research Center for Environmental Health, Ingolstaedter Landstrasse 1, 85764 Neuherberg, Germany.
N S Pellegata
Taipei Institute of Pathology · TW

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

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.

Indexed as

AdenomaAdultAnimalsCyclin-Dependent Kinase Inhibitor p27Germ-Line MutationHumansMultiple Endocrine NeoplasiaMultiple Endocrine Neoplasia Type 1Mutation, MissenseParathyroid NeoplasmsPituitary NeoplasmsPolymorphism, Single NucleotideRatsCDKN1B protein, humanCdkn1b protein, ratCyclin-Dependent Kinase Inhibitor p27

Identifiers

PMID23800691
OpenAlexW143863094

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

None linked

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.