Evidence map›Paper›PMID 32808116›Full record

ArticleMolecular biology reports2020

A novel MEN1 pathogenic variant in an Italian patient with multiple endocrine neoplasia type 1.

Andrea Corsello, Carmine Bruno, Roberta Rizza, Paola Concolino, Giampaolo Papi, Alfredo Pontecorvi, Guido Rindi, Rosa Maria Paragliola

Abstract readCase Reports
In one paragraph

Article in Molecular biology reports, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
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

1 citing paper in PubMed.

  1. Article
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

8 authors.

Andrea Corsello *Endocrinology, Università Cattolica del Sacro Cuore, Fondazione Policlinico "Gemelli" IRCCS, Largo Gemelli 8, 00168, Rome, Italy.
Carmine Bruno *Endocrinology, Università Cattolica del Sacro Cuore, Fondazione Policlinico "Gemelli" IRCCS, Largo Gemelli 8, 00168, Rome, Italy.
Roberta RizzaInstitute of Biochemistry and Clinical Biochemistry, Università Cattolica del Sacro Cuore, Fondazione Policlinico Universitario A. Gemelli IRCCS, Roma Largo Gemelli 8, 00168, Rome, Italy.
Paola ConcolinoInstitute of Biochemistry and Clinical Biochemistry, Università Cattolica del Sacro Cuore, Fondazione Policlinico Universitario A. Gemelli IRCCS, Roma Largo Gemelli 8, 00168, Rome, Italy.
Giampaolo PapiEndocrinology, Università Cattolica del Sacro Cuore, Fondazione Policlinico "Gemelli" IRCCS, Largo Gemelli 8, 00168, Rome, Italy.
Alfredo PontecorviEndocrinology, Università Cattolica del Sacro Cuore, Fondazione Policlinico "Gemelli" IRCCS, Largo Gemelli 8, 00168, Rome, Italy.
Guido RindiSection of Anatomic Pathology, Dipartimento di Scienze della Vita e di Sanità Pubblica, Università Cattolica del Sacro Cuore, Rome, Italy.
Rosa Maria ParagliolaEndocrinology, Università Cattolica del Sacro Cuore, Fondazione Policlinico "Gemelli" IRCCS, Largo Gemelli 8, 00168, Rome, Italy. rosamariaparagliola@gmail.com.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The multiple endocrine neoplasia type 1 (MEN1) is a rare syndrome characterized by the predisposition to developing multiple endocrine and non-endocrine tumors, typically characterized by the association between parathyroid gland hyperplasia or tumors, gastroenteropancreatic tumors and pituitary adenomas. The MEN1 gene is located on the long arm of chromosome 11 (11q13) and it encodes for the protein "menin". We here reported the case of a MEN1-patient, affected by primary hyperparathyroidism, insulinoma, pituitary non-hyperfunctioning adenoma and bilateral adrenal masses, carrying a novel heterozygous pathogenic variant (c.1252_1254delGACinsAT), located in exon 9 of MEN1 gene.

Indexed as

Base SequenceExonsSequence DeletionAdultHumansMaleMultiple Endocrine Neoplasia Type 1Proto-Oncogene ProteinsMEN1 protein, humanProto-Oncogene ProteinsInsulinomaMEN1MeninPrimary hyperparathyroidism

Identifiers

PMID32808116
PMCPMC7430936

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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.