Evidence map›Paper›PMID 24144965›Full record

ArticleEuropean journal of endocrinology2014

Systematic screening for PRKAR1A gene rearrangement in Carney complex: identification and functional characterization of a new in-frame deletion.

M Guillaud Bataille, Y Rhayem, S B Sousa, R Libé, M Dambrun, C Chevalier, M Nigou, C Auzan, M O North, J Sa and 7 more

Open access · greenAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in European journal of endocrinology, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
0.8field-weighted citation impact, top 23% 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

2 citing papers in PubMed, 13 citations in OpenAlex.

  1. Male Infertility associated with a NovelClinical medicine insights. Endocrinology and diabetes · 2024
    Article
  2. 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

17 authors at 5 institutions in 4 countries.

M Guillaud Bataille *Département de Biologie Hormonale, Hôpital Cochin, Assistance Publique - Hôpitaux de Paris, 27 Rue du Faubourg Saint Jacques, 75014 Paris, France.
Y Rhayem *Département de Biologie Hormonale, Hôpital Cochin, Assistance Publique - Hôpitaux de Paris, 27 Rue du Faubourg Saint Jacques, 75014 Paris, France.
S B SousaServiço de Genetica Medica, Departamento Pediatrico, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal.
R LibéService d'Endocrinologie, Hôpital Cochin, Assistance Publique - Hôpitaux de Paris, 75014 Paris, France.
M DambrunDépartement de Biologie Hormonale, Hôpital Cochin, Assistance Publique - Hôpitaux de Paris, 27 Rue du Faubourg Saint Jacques, 75014 Paris, France.
C ChevalierINSERM U970, Université Paris Descartes, PARCC, 56 Rue Leblanc, 75015 Paris, France.
M NigouDépartement de Biologie Hormonale, Hôpital Cochin, Assistance Publique - Hôpitaux de Paris, 27 Rue du Faubourg Saint Jacques, 75014 Paris, France.
C AuzanINSERM U970, Université Paris Descartes, PARCC, 56 Rue Leblanc, 75015 Paris, France.
M O NorthDépartement de Biologie Hormonale, Hôpital Cochin, Assistance Publique - Hôpitaux de Paris, 27 Rue du Faubourg Saint Jacques, 75014 Paris, France.
J SaServiço de Genetica Medica, Departamento Pediatrico, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal.
L GomesServiço de Endocrinologia.
P SalpeaSection on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Bethesda, Maryland 20892, USA.
A HorvathSection on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Bethesda, Maryland 20892, USA.
C A StratakisSection on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Bethesda, Maryland 20892, USA.
N HamzaouiDépartement de Biologie Hormonale, Hôpital Cochin, Assistance Publique - Hôpitaux de Paris, 27 Rue du Faubourg Saint Jacques, 75014 Paris, France.
J BertheratService d'Endocrinologie, Hôpital Cochin, Assistance Publique - Hôpitaux de Paris, 75014 Paris, France.
E ClauserDépartement de Biologie Hormonale, Hôpital Cochin, Assistance Publique - Hôpitaux de Paris, 27 Rue du Faubourg Saint Jacques, 75014 Paris, France.
Délégation Paris 5 · FRHôpital Cochin · FRHospitais da Universidade de Coimbra · PTNational Institutes of Health · USUniversité Claude Bernard Lyon 1 · FR

Funding

Molecular Genetics of Endocrine Tumors and Related DisordersZIAHD008920 · NICHD · EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH & HUMAN DEVELOPMENT · PI STRATAKIS, CONSTANTINE A. · 2012 to 2021
$25.8M
Intramural NIH HHS ZIA HD008920
6 · The paper itself

Abstract

backgroundPoint mutations of the PRKAR1A gene are a genetic cause of Carney complex (CNC) and primary pigmented nodular adrenocortical disease (PPNAD), but in 30% of the patients no mutation is detected.

objectiveSet up a routine-based technique for systematic detection of large deletions or duplications of this gene and functionally characterize these mutations.

methodsMultiplex ligation-dependent probe amplification (MLPA) of the 12 exons of the PRKAR1A gene was validated and used to detect large rearrangements in 13 typical CNC and 39 confirmed or putative PPNAD without any mutations of the gene. An in-frame deletion was characterized by western blot and bioluminescence resonant energy transfer technique for its interaction with the catalytic subunit.

resultsMLPA allowed identification of exons 3-6 deletion in three patients of a family with typical CNC. The truncated protein is expressed, but rapidly degraded, and does not interact with the protein kinase A catalytic subunit.

conclusionsMLPA is a powerful technique that may be used following the lack of mutations detected by direct sequencing in patients with bona fide CNC or PPNAD. We report here one such new deletion, as an example. However, these gene defects are not a frequent cause of CNC or PPNAD.

Indexed as

Gene DeletionGene RearrangementAdolescentAdrenal Cortex DiseasesAdultCarney ComplexCatalytic DomainCyclic AMP-Dependent Protein Kinase RIalpha SubunitCyclic AMP-Dependent Protein KinasesExonsFamily HealthFemaleGenetic Association StudiesHumansMaleMiddle AgedCyclic AMP-Dependent Protein Kinase RIalpha SubunitCyclic AMP-Dependent Protein KinasesPeptide FragmentsPRKAR1A protein, human

Identifiers

PMID24144965
PMCPMC4733623
OpenAlexW2100525245

What OpenQuestion holds

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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.