Evidence map›Paper›PMID 32867102›Full record

ArticleInternational journal of molecular sciences2020

Characterization of Two Novel Variants of the Steroidogenic Acute Regulatory Protein Identified in a Girl with Classic Lipoid Congenital Adrenal Hyperplasia.

Efstathios Katharopoulos, Natascia Di Iorgi, Paula Fernandez-Alvarez, Amit V Pandey, Michael Groessl, Shraddha Dubey, Núria Camats, Flavia Napoli, Giuseppa Patti, Marilea Lezzi and 2 more

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

Article in International journal of molecular sciences, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
0.3field-weighted citation impact, top 46% 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

5 citing papers in PubMed, 8 citations in OpenAlex.

  1. Review
  2. Review
  3. Article
  4. Article
  5. Disorders of Sex Development of Adrenal Origin.Frontiers in endocrinology · 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

12 authors at 4 institutions in 3 countries.

Efstathios KatharopoulosDepartment of Paediatrics, Division of Endocrinology, Diabetology & Metabolism, Bern University Hospital, 3010 Bern, Switzerland.ORCID 0000-0002-3078-2176
Natascia Di IorgiDepartment of Paediatrics, Istituto Giannina Gaslini, University of Genoa, 16147 Genoa, Italy.
Paula Fernandez-AlvarezDepartment of Clinical and Molecular Genetics and Rare Disease Unit, University Hospital Vall d'Hebron, 08035 Barcelona, Spain.ORCID 0000-0003-2695-3531
Amit V PandeyDepartment of Paediatrics, Division of Endocrinology, Diabetology & Metabolism, Bern University Hospital, 3010 Bern, Switzerland.ORCID 0000-0001-8331-5902
Michael GroesslDepartment of Biomedical Research, Bern University Hospital and University of Bern, 3010 Bern, Switzerland.
Shraddha DubeyDepartment of Paediatrics, Division of Endocrinology, Diabetology & Metabolism, Bern University Hospital, 3010 Bern, Switzerland.
Núria CamatsGrowth and Development Research Unit, Vall d'Hebron Research Institute (VHIR), Centre of Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 08035 Barcelona, Spain.
Flavia NapoliDepartment of Paediatrics, Istituto Giannina Gaslini, University of Genoa, 16147 Genoa, Italy.
Giuseppa PattiDepartment of Paediatrics, Istituto Giannina Gaslini, University of Genoa, 16147 Genoa, Italy.
Marilea LezziDepartment of Paediatrics, Istituto Giannina Gaslini, University of Genoa, 16147 Genoa, Italy.
Mohamad MaghnieDepartment of Paediatrics, Istituto Giannina Gaslini, University of Genoa, 16147 Genoa, Italy.ORCID 0000-0002-7183-5238
Christa E FlückDepartment of Paediatrics, Division of Endocrinology, Diabetology & Metabolism, Bern University Hospital, 3010 Bern, Switzerland.
Istituto Giannina Gaslini · ITUniversity of Bern · CHInstituto de Salud Carlos III · ESVall d'Hebron Hospital Universitari · ES

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Congenital adrenal hyperplasia (CAH) consists of several autosomal recessive disorders that inhibit steroid biosynthesis. We describe a case report diagnosed with adrenal insufficiency due to low adrenal steroids and adrenocorticotropic hormone excess due to lack of cortisol negative feedback signaling to the pituary gland. Genetic work up revealed two missense variants, p.Thr204Arg and p.Leu260Arg in the

Indexed as

Mutation, MissenseAdrenal Hyperplasia, CongenitalAnimalsChlorocebus aethiopsCholesterolCOS CellsDisorder of Sex Development, 46,XYFemaleGenetic Association StudiesHumansInfantModels, MolecularPedigreePhosphoproteinsPregnenoloneProtein ConformationCholesterolPhosphoproteinsPregnenoloneSteroidogenic Acute Regulatory Proteinadrenal insufficiencylipoid congenital adrenal hyperplasiarare diseaseStARsteroidogenic acute regulatory protein

Identifiers

PMID32867102
PMCPMC7504070
OpenAlexW3080162004

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.