Evidence map›Paper›PMID 36711613›Full record

ArticlemedRxiv : the preprint server for health sciences2023

Germline loss-of-function

Giampaolo Trivellin, Adrian F Daly, Laura C Hernández-Ramírez, Elisa Araldi, Christina Tatsi, Ryan K Dale, Gus Fridell, Arjun Mittal, Fabio R Faucz, James R Iben and 20 more

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

Article in medRxiv : the preprint server for health sciences, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing 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

0 citing papers in PubMed, 0 citations in OpenAlex.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

30 authors at 12 institutions in 9 countries.

Giampaolo TrivellinDepartment of Biomedical Sciences, Humanitas University, Via Rita Levi Montalcini 4, 20072 Pieve Emanuele - Milan, Italy.
Adrian F DalyDepartment of Endocrinology, Centre Hospitalier Universitaire de Liège, University of Liège, Domaine Universitaire du Sart-Tilman, 4000 Liège, Belgium.
Laura C Hernández-RamírezRed de Apoyo a la Investigación, Coordinación de la Investigación Científica, Universidad Nacional Autónoma de México e Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán. Tlalpan, CDMX 14080, Mexico.
Elisa AraldiEnergy Metabolism Laboratory, Institute of Translational Medicine, Department of Health Sciences and Technology, Swiss Federal Institute of Technology (ETH) Zurich, Schwerzenbach, CH-8603, Switzerland.
Christina TatsiSection on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Bethesda, MD 20892, USA.
Ryan K DaleBioinformatics and Scientific Programming Core, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Bethesda, MD 20892, USA.
Gus FridellBioinformatics and Scientific Programming Core, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Bethesda, MD 20892, USA.
Arjun MittalBioinformatics and Scientific Programming Core, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Bethesda, MD 20892, USA.
Fabio R FauczSection on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Bethesda, MD 20892, USA.
James R IbenMolecular Genomics Core, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Bethesda, MD, 20892, USA.
Tianwei LiMolecular Genomics Core, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Bethesda, MD, 20892, USA.
Eleonora VitaliIRCCS Humanitas Research Hospital, Via Manzoni 56, 20089 Rozzano - Milan, Italy.
Stanko S StojilkovicSection on Cellular Signaling, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Bethesda, MD 20892, USA.
Peter KamenickyUniversité Paris-Saclay, INSERM, Physiologie et Physiopathologie Endocriniennes, 94270 Le Kremlin-Bicêtre, France.
Chiara VillaDépartement de Neuropathologie de la Pitié Salpêtrière, Hôpital de la Pitié-Salpêtrière - APHP Sorbonne Université, 47-83 Bd de l'Hôpital 75651, Paris, France.
Bertrand BaussartINSERM U1016, CNRS UMR 8104, Institut Cochin, 75014 Paris, France.
Prashant ChittiboinaNeurosurgery Unit for Pituitary and Inheritable Diseases and Surgical Neurology Branch, National Institute of Neurological Disorders and Stroke (NINDS), National Institutes of Health (NIH), Bethesda, MD 20892, USA.
Camilo ToroNIH Undiagnosed Diseases Program, Office of the Clinical Director, National Human Genome Research Institute (NHGRI), National Institutes of Health (NIH), Bethesda, MD 20892, USA.
William A GahlNIH Undiagnosed Diseases Program, Office of the Clinical Director, National Human Genome Research Institute (NHGRI), National Institutes of Health (NIH), Bethesda, MD 20892, USA.
Erica A EugsterDivision of Endocrinology & Diabetes, Department of Pediatrics, Riley Hospital for Children at IU Health, Indiana University School of Medicine, Indianapolis, IN 46202, USA.
Luciana A NavesService of Endocrinology, University Hospital, Faculty of Medicine, University of Brasilia, 70910900 Brasilia, Brazil.
Marie-Lise Jaffrain-ReaDepartment of Biotechnological and Applied Clinical Sciences, University of L'Aquila, 67100 L'Aquila, Italy.
Wouter W de HerderDepartment of Medicine, Section Endocrinology, Pituitary Center Rotterdam, Erasmus University Medical Center, 3000 CA Rotterdam, the Netherlands.
Sebastian Jcmm NeggersDepartment of Medicine, Section Endocrinology, Pituitary Center Rotterdam, Erasmus University Medical Center, 3000 CA Rotterdam, the Netherlands.
Patrick PetrossiansDepartment of Endocrinology, Centre Hospitalier Universitaire de Liège, University of Liège, Domaine Universitaire du Sart-Tilman, 4000 Liège, Belgium.
Albert BeckersDepartment of Endocrinology, Centre Hospitalier Universitaire de Liège, University of Liège, Domaine Universitaire du Sart-Tilman, 4000 Liège, Belgium.
Andrea G LaniaDepartment of Biomedical Sciences, Humanitas University, Via Rita Levi Montalcini 4, 20072 Pieve Emanuele - Milan, Italy.
Richard E MainsDepartment of Neuroscience, UConn Health, 263 Farmington Avenue, Farmington, CT 06030, USA.
Betty A EipperDepartment of Molecular Biology and Biophysics, UConn Health, 263 Farmington Avenue, Farmington, CT 06030, USA.
Constantine A StratakisSection on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Bethesda, MD 20892, USA.
National Institutes of Health · USHumanitas University · ITUniversity of Liège · BECentre National de la Recherche Scientifique · FRErasmus MC · NLETH Zurich · CHIndiana University Health · USInserm · FRUConn Health · USUniversidade de Brasília · BRUniversity of Connecticut · USUniversity of L'Aquila · IT

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
BIOCHEMISTRY AND PHYSIOLOGY OF PEPTIDE AMIDATIONR01DK032949 · NIDDK · UNIVERSITY OF CONNECTICUT SCH OF MED/DNT · PI EIPPER, ELIZABETH ANNE, KING, STEPHEN M · 1986 to 2017
$6.4M
Intramural NIH HHS ZIA HD008920Medical Research Council MC_PC_17228NIDDK NIH HHS R01 DK032949
6 · The paper itself

Abstract

Pituitary adenomas (PAs) are common, usually benign tumors of the anterior pituitary gland which, for the most part, have no known genetic cause. PAs are associated with major clinical effects due to hormonal dysregulation and tumoral impingement on vital brain structures. Following the identification of a loss-of-function variant (p.Arg703Gln) in the

Identifiers

PMID36711613
PMCPMC9882627
OpenAlexW4317566936

What Socratic 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 Socratic graph.