Evidence map›Paper›PMID 35277652›Full record

ArticleEuropean journal of human genetics : EJHG2022

A human paradigm of LHX4 and NR5A1 developmental gene interaction in the pituitary gland and ovary?

Aristeidis Giannakopoulos, Amalia Sertedaki, Dionisios Chrysis

Open access · bronzeAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in European journal of human genetics : EJHG, 2022. 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
0.4field-weighted citation impact, top 34% 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, 2 citations in OpenAlex.

  1. Article
  2. International journal of molecular sciences · 2024
    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

3 authors at 2 institutions in 1 country.

Aristeidis GiannakopoulosDivision of Pediatric Endocrinology, Department of Pediatrics, Medical School of Patras, University Hospital, Rio, Greece. argianak@upatras.gr.ORCID 0000-0001-9730-5027
Amalia SertedakiDivision of Endocrinology, Diabetes and Metabolism, First Department of Pediatrics, Medical School, National and Kapodistrian University of Athens, Athens, Greece.ORCID 0000-0002-3648-3812
Dionisios ChrysisDivision of Pediatric Endocrinology, Department of Pediatrics, Medical School of Patras, University Hospital, Rio, Greece.
University of Patras · GRNational and Kapodistrian University of Athens · GR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The pituitary gland, as a nodal component of the endocrine system, is responsible for the regulation of growth, reproduction, metabolism, and homeostasis. Although pituitary formation though the hierarchical action of different transcription factors is well studied in mouse models, there is little evidence of the analogous developmental processes in humans. Herein, we present a female patient with a phenotype that includes blepharoptosis-ptosis-epicanthus syndrome and premature ovarian failure. Clinical exome sequencing revealed two heterozygous variants in two genes, LHX4 (pathogenic) and NR5A1 (VUS) genes and no mutation in FOXL2 gene. We propose a model of genetic interaction between LHX4 and NR5A1 during pituitary and ovarian development that may lead to a similar phenotype mediated by reduced FOXL2 expression.

Indexed as

BlepharophimosisPrimary Ovarian InsufficiencyAnimalsFemaleForkhead Transcription FactorsGenes, DevelopmentalHumansLIM-Homeodomain ProteinsMicePituitary GlandSteroidogenic Factor 1Transcription FactorsForkhead Transcription FactorsLHX4 protein, humanLIM-Homeodomain ProteinsNR5A1 protein, humanSteroidogenic Factor 1Transcription Factors

Identifiers

PMID35277652
PMCPMC9553932
OpenAlexW4220751432

What OpenQuestion 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 OpenQuestion graph.