Evidence map›Paper›PMID 28533356›Full record

ArticleEndocrine-related cancer2017

Loss-of-function mutations in the

Laura C Hernández-Ramírez, Ryhem Gam, Nuria Valdés, Maya B Lodish, Nathan Pankratz, Aurelio Balsalobre, Yves Gauthier, Fabio R Faucz, Giampaolo Trivellin, Prashant Chittiboina and 11 more

Open access · hybridAbstract read
In one paragraph

Article in Endocrine-related cancer, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 38 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
38citing papers in PubMed, 1 pooled it
5.8field-weighted citation impact, top 3% 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

38 citing papers in PubMed, 1 synthesis or guideline pooled it, 86 citations in OpenAlex.

  1. Guideline
  2. Review
  3. The genetics of hypertension.Nature reviews. Nephrology · 2026
    Review
  4. Article
  5. Review
  6. Article
  7. Cushing syndrome.Nature reviews. Disease primers · 2025
    Review
  8. Review
  9. Pituitary Tumorigenesis-Implications for Management.Medicina (Kaunas, Lithuania) · 2023
    Review
  10. The hallmarks of cancer… in pituitary tumors?Reviews in endocrine & metabolic disorders · 2023
    Review
  11. Germline loss-of-functionmedRxiv : the preprint server for health sciences · 2023
    Article
  12. Review
  13. Gene Mutations in Cushing's Syndrome.Molecular syndromology · 2023
    Review
  14. Germline loss-of-functionFrontiers in endocrinology · 2023
    Article
  15. Genetic drivers of Cushing's disease: Frequency and associated phenotypes.Genetics in medicine : official journal of the American College of Medical Genetics · 2022
    Article
  16. Review
  17. Review
  18. Aggressive corticotroph tumors and carcinomas.Journal of neuroendocrinology · 2022
    Review
  19. Genetic Basis of ACTH-Secreting Adenomas.International journal of molecular sciences · 2022
    Review
  20. [Update on mechanisms of pituitary tumorigenesis.]Revista de la Facultad de Ciencias Medicas (Cordoba, Argentina) · 2021
    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

21 authors at 11 institutions in 5 countries.

Laura C Hernández-RamírezSection on Endocrinology and GeneticsEunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Bethesda, Maryland, USA.
Ryhem GamLaboratoire de Génétique MoléculaireInstitut de Recherches Cliniques de Montréal (IRCM), Montréal, Québec, Canada.
Nuria ValdésSection on Endocrinology and GeneticsEunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Bethesda, Maryland, USA.
Maya B LodishSection on Endocrinology and GeneticsEunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Bethesda, Maryland, USA.
Nathan PankratzDepartment of Laboratory Medicine and PathologyUniversity of Minnesota Medical School, Minneapolis, Minnesota, USA.
Aurelio BalsalobreLaboratoire de Génétique MoléculaireInstitut de Recherches Cliniques de Montréal (IRCM), Montréal, Québec, Canada.
Yves GauthierLaboratoire de Génétique MoléculaireInstitut de Recherches Cliniques de Montréal (IRCM), Montréal, Québec, Canada.
Fabio R FauczSection on Endocrinology and GeneticsEunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Bethesda, Maryland, USA.
Giampaolo TrivellinSection on Endocrinology and GeneticsEunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Bethesda, Maryland, USA.
Prashant ChittiboinaSurgical Neurology BranchNational Institute of Neurological Disorders and Stroke (NINDS), National Institutes of Health (NIH), Bethesda, Maryland, USA.
John LaneDepartment of Laboratory Medicine and PathologyUniversity of Minnesota Medical School, Minneapolis, Minnesota, USA.
Denise M KayNewborn Screening ProgramWadsworth Center, New York State Department of Health, Albany, New York, USA.
Aggeliki DimopoulosDivision of Intramural Population Health ResearchEpidemiology Branch, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Bethesda, Maryland, USA.
Stephan GaillardInstitut CochinINSERM U1016, CNRS UMR8104, Université Paris Descartes, Paris, France.
Mario NeouInstitut CochinINSERM U1016, CNRS UMR8104, Université Paris Descartes, Paris, France.
Jérôme BertheratInstitut CochinINSERM U1016, CNRS UMR8104, Université Paris Descartes, Paris, France.
Guillaume AssiéInstitut CochinINSERM U1016, CNRS UMR8104, Université Paris Descartes, Paris, France.
Chiara VillaInstitut CochinINSERM U1016, CNRS UMR8104, Université Paris Descartes, Paris, France.
James L MillsDivision of Intramural Population Health ResearchEpidemiology Branch, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Bethesda, Maryland, USA.
Jacques DrouinLaboratoire de Génétique MoléculaireInstitut de Recherches Cliniques de Montréal (IRCM), Montréal, Québec, Canada.
Constantine A StratakisSection on Endocrinology and GeneticsEunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Bethesda, Maryland, USA stratakc@mail.nih.gov.
Montreal Clinical Research Institute · CANational Institutes of Health · USEunice Kennedy Shriver National Institute of Child Health and Human Development · USInserm · FRUniversity of Minnesota Medical Center · USAssistance Publique – Hôpitaux de Paris · FRHôpital Cochin · FRNational Institute of Neurological Disorders and Stroke · USNew York State Department of Health · USUniversidad de Oviedo · ESUniversity of Liège · BE

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
Improved Diagnosis and Treatment of Cushing's DiseaseZIANS003150 · NINDS · NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE · PI CHITTIBOINA, PRASHANT · 2015 to 2025
$13.7M
Cushing's Disease Whole Exome Sequencing StudyZIAHD008939 · NICHD · EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH & HUMAN DEVELOPMENT · PI MILLS, JAMES · 2014 to 2023
$1.2M
CIHR
6 · The paper itself

Abstract

The

Indexed as

AdenomaAdolescentAdultAnimalsCarrier ProteinsCell Line, TumorChildCyclinsDNA Copy Number VariationsFemaleHumansMaleMiceMutationPhosphoproteinsPituitary ACTH HypersecretionCABLES1 protein, humanCarrier ProteinsCyclinsPhosphoproteinscorticotropinomaCushing’s diseasegermline mutationwhole-exome sequencing

Identifiers

PMID28533356
PMCPMC5510591
OpenAlexW2618996609

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.