Evidence map›Paper›PMID 35408865›Full record

ReviewInternational journal of molecular sciences2022

Modeling PCDH19-CE: From 2D Stem Cell Model to 3D Brain Organoids.

Rossella Borghi, Valentina Magliocca, Marina Trivisano, Nicola Specchio, Marco Tartaglia, Enrico Bertini, Claudia Compagnucci

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

Review in International journal of molecular sciences, 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
0.2field-weighted citation impact, top 54% 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. 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

7 authors at 1 institution in 1 country.

Rossella BorghiGenetics and Rare Diseases Research Division, Bambino Gesù Children's Research Hospital, IRCCS, 00165 Rome, Italy.ORCID 0000-0003-0728-5494
Valentina MaglioccaGenetics and Rare Diseases Research Division, Bambino Gesù Children's Research Hospital, IRCCS, 00165 Rome, Italy.
Marina TrivisanoDepartment of Neurosciences, Rare and Complex Epilepsy Unit, Division of Neurology, Bambino Gesù Children's Hospital, IRCCS, Full Member of European Reference Network EpiCARE, 00165 Rome, Italy.ORCID 0000-0002-9841-8581
Nicola SpecchioDepartment of Neurosciences, Rare and Complex Epilepsy Unit, Division of Neurology, Bambino Gesù Children's Hospital, IRCCS, Full Member of European Reference Network EpiCARE, 00165 Rome, Italy.ORCID 0000-0002-8120-0287
Marco TartagliaGenetics and Rare Diseases Research Division, Bambino Gesù Children's Research Hospital, IRCCS, 00165 Rome, Italy.ORCID 0000-0001-7736-9672
Enrico BertiniGenetics and Rare Diseases Research Division, Bambino Gesù Children's Research Hospital, IRCCS, 00165 Rome, Italy.ORCID 0000-0001-9276-4590
Claudia CompagnucciGenetics and Rare Diseases Research Division, Bambino Gesù Children's Research Hospital, IRCCS, 00165 Rome, Italy.ORCID 0000-0003-0877-6172
Bambino Gesù Children's Hospital · IT

Funding

Fondazione Bambino Gesù Vite coraggioseItalian Ministry of Health Ricerca Corrente
6 · The paper itself

Abstract

PCDH19 clustering epilepsy (PCDH19-CE) is a genetic disease characterized by a heterogeneous phenotypic spectrum ranging from focal epilepsy with rare seizures and normal cognitive development to severe drug-resistant epilepsy associated with intellectual disability and autism. Unfortunately, little is known about the pathogenic mechanism underlying this disease and an effective treatment is lacking. Studies with zebrafish and murine models have provided insights on the function of PCDH19 during brain development and how its altered function causes the disease, but these models fail to reproduce the human phenotype. Induced pluripotent stem cell (iPSC) technology has provided a complementary experimental approach for investigating the pathogenic mechanisms implicated in PCDH19-CE during neurogenesis and studying the pathology in a more physiological three-dimensional (3D) environment through the development of brain organoids. We report on recent progress in the development of human brain organoids with a particular focus on how this 3D model may shed light on the pathomechanisms implicated in PCDH19-CE.

Indexed as

EpilepsyInduced Pluripotent Stem CellsAnimalsBrainCadherinsCluster AnalysisMiceOrganoidsProtocadherinsZebrafishCadherinsProtocadherinsbrain organoidsdisease modeliPSCsneurogenesisneuronsPCDH19

Identifiers

PMID35408865
PMCPMC8998847
OpenAlexW4221062436

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.