Evidence map›Paper›PMID 28634279›Full record

Observational studyEuropean journal of endocrinology2017

In-frame seven amino-acid duplication in

Roberto Salvatori, Serban Radian, Yoan Diekmann, Donato Iacovazzo, Alessia David, Plamena Gabrovska, Giorgia Grassi, Anna-Marie Bussell, Karen Stals, Astrid Weber and 16 more

Open access · hybridAbstract readObservational Study
PubMed Full text at PMC Publisher
In one paragraph

Observational study in European journal of endocrinology, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.

0numbers the graph read from it
0cells of the map it votes in
7citing papers in PubMed
1.1field-weighted citation impact, top 24% 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

7 citing papers in PubMed, 13 citations in OpenAlex.

  1. Article
  2. Article
  3. Genetics of Acromegaly and Gigantism.Journal of clinical medicine · 2021
    Review
  4. The Pituitary Tumors and Their Tumor-Specific Microenvironment.Advances in experimental medicine and biology · 2020
    Article
  5. Review
  6. The causes and consequences of pituitary gigantism.Nature reviews. Endocrinology · 2018
    Review
  7. 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

26 authors at 16 institutions in 5 countries.

Roberto SalvatoriJohns Hopkins University School of Medicine, Baltimore, Maryland, USA.
Serban RadianWilliam Harvey Research Institute, Barts and the London School of Medicine, Queen Mary University of London, London, UK.
Yoan DiekmannResearch Department of Genetics, Evolution and Environment, University College London, London, UK.
Donato IacovazzoWilliam Harvey Research Institute, Barts and the London School of Medicine, Queen Mary University of London, London, UK.
Alessia DavidCentre of Bioinformatics and System Biology, Department of Life Sciences, Imperial College London, London, UK.
Plamena GabrovskaWilliam Harvey Research Institute, Barts and the London School of Medicine, Queen Mary University of London, London, UK.
Giorgia GrassiWilliam Harvey Research Institute, Barts and the London School of Medicine, Queen Mary University of London, London, UK.
Anna-Marie BussellDepartment of Molecular Genetics, Royal Devon and Exeter Foundation Trust, Exeter, UK.
Karen StalsDepartment of Molecular Genetics, Royal Devon and Exeter Foundation Trust, Exeter, UK.
Astrid WeberDepartment of Clinical Genetics, Liverpool Women's Hospital, Liverpool, UK.
Richard QuintonDepartment of Endocrinology, Newcastle-upon-Tyne Hospitals & Institute of Genetic Medicine, Newcastle University, Newcastle, UK.
Elizabeth C CrowneBristol Royal Hospital for Children, University Hospitals Bristol Foundation Trust, Bristol, UK.
Valentina CorazziniJohns Hopkins University School of Medicine, Baltimore, Maryland, USA.
Lou MetherellWilliam Harvey Research Institute, Barts and the London School of Medicine, Queen Mary University of London, London, UK.
Tara KearneyEndocrinology and Neuropathology Unit, Salford Royal Hospital, Manchester, UK.
Daniel Du PlessisEndocrinology and Neuropathology Unit, Salford Royal Hospital, Manchester, UK.
Ajay Kumar SinhaThe Walton Centre for Neurology and Neurosurgery, Liverpool, UK.
Atik BaborieThe Walton Centre for Neurology and Neurosurgery, Liverpool, UK.
Anne-Lise LecoqAssistance Publique-Hôpitaux de Paris, Hôpital de Bicêtre, Service d'Endocrinologie et des Maladies de la Reproduction and Centre de Référence des Maladies Endocriniennes Rares de la Croissance, Le Kremlin-Bicêtre, France.
Philippe ChansonAssistance Publique-Hôpitaux de Paris, Hôpital de Bicêtre, Service d'Endocrinologie et des Maladies de la Reproduction and Centre de Référence des Maladies Endocriniennes Rares de la Croissance, Le Kremlin-Bicêtre, France.
Olaf AnsorgeNeuropathology, University of Oxford, Oxford, UK.
Sian EllardDepartment of Molecular Genetics, Royal Devon and Exeter Foundation Trust, Exeter, UK.
Peter J TrainerDepartment of Endocrinology, Christie Hospital, Manchester, UK.
David BaldingResearch Department of Genetics, Evolution and Environment, University College London, London, UK.
Mark G ThomasResearch Department of Genetics, Evolution and Environment, University College London, London, UK.
Márta KorbonitsWilliam Harvey Research Institute, Barts and the London School of Medicine, Queen Mary University of London, London, UK.
Royal Devon & Exeter NHS Foundation Trust · GBUniversity College London · GBWilliam Harvey Research Institute · GBJohns Hopkins University · USQueen Mary University of London · GBSalford Royal Hospital · GBUniversité Paris-Saclay · FRBristol Royal Hospital for Children · GBImperial College London · GBInstitutul Național de Endocrinologie C.I. Parhon · ROLiverpool Women's Hospital · GBNewcastle upon Tyne Hospital · GBThe Christie Hospital · GBUniversity of Liverpool · GBUniversity of Oxford · GBWalton Centre · GB

Funding

Medical Research Council MR/K021613/1Medical Research Council MR/M018539/1MRF_ C0467
6 · The paper itself

Abstract

objectiveMutations in the aryl hydrocarbon receptor-interacting protein ( DESIGN AND

methodsObservational, inferential and experimental study, including:

resultsNine European-origin, unrelated c.805_825dup-positive pedigrees (four familial, five sporadic from the UK, USA and France) included 16 affected (nine gigantism/four acromegaly/two non-functioning pituitary adenoma patients and one prospectively diagnosed acromegaly patient) and nine unaffected carriers. All pedigrees shared a 2.79 Mbp haploblock around

conclusionsThe c.805_825dup allele, originating from a common ancestor, associates with a severe clinical phenotype and a high frequency of gigantism. The mutation is likely to be the result of slipped strand mispairing and affects protein-protein interactions and AIP protein stability.

Indexed as

AllelesAdolescentAdultAmino Acid SequenceChildFemaleFranceGigantismHEK293 CellsHumansIntracellular Signaling Peptides and ProteinsMalePedigreeProtein Interaction MappingProtein StabilityProtein Structure, Secondaryaryl hydrocarbon receptor-interacting proteinIntracellular Signaling Peptides and Proteins

Identifiers

PMID28634279
PMCPMC5510572
OpenAlexW2630747491

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.