Evidence map›Paper›PMID 36161909›Full record

ArticleProceedings of the National Academy of Sciences of the United States of America2022

Monosomy X in isogenic human iPSC-derived trophoblast model impacts expression modules preserved in human placenta.

Darcy T Ahern, Prakhar Bansal, Maria K Armillei, Isaac V Faustino, Yuvabharath Kondaveeti, Heather R Glatt-Deeley, Erin C Banda, Stefan F Pinter

Open access · greenAbstract read
In one paragraph

Article in Proceedings of the National Academy of Sciences of the United States of America, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.

0numbers the graph read from it
0cells of the map it votes in
12citing papers in PubMed
2.8field-weighted citation impact, top 9% 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

12 citing papers in PubMed, 16 citations in OpenAlex.

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  11. Monosomy X in isogenic human iPSC-derived trophoblast model impacts expression modules preserved in human placenta.Proceedings of the National Academy of Sciences of the United States of America · 2022
    Article
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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

8 authors at 2 institutions in 1 country.

Darcy T AhernGraduate Program in Genetics and Developmental Biology, UCONN Health, University of Connecticut, Farmington, CT 06030.ORCID 0000-0002-3630-4538
Prakhar BansalGraduate Program in Genetics and Developmental Biology, UCONN Health, University of Connecticut, Farmington, CT 06030.ORCID 0000-0002-4557-7423
Maria K ArmilleiDepartment of Genetics and Genome Sciences, UCONN Health, University of Connecticut, Farmington, CT 06030.
Isaac V FaustinoDepartment of Genetics and Genome Sciences, UCONN Health, University of Connecticut, Farmington, CT 06030.
Yuvabharath KondaveetiDepartment of Genetics and Genome Sciences, UCONN Health, University of Connecticut, Farmington, CT 06030.ORCID 0000-0002-8901-8754
Heather R Glatt-DeeleyDepartment of Genetics and Genome Sciences, UCONN Health, University of Connecticut, Farmington, CT 06030.ORCID 0000-0001-9948-1868
Erin C BandaDepartment of Genetics and Genome Sciences, UCONN Health, University of Connecticut, Farmington, CT 06030.
Stefan F PinterGraduate Program in Genetics and Developmental Biology, UCONN Health, University of Connecticut, Farmington, CT 06030.ORCID 0000-0003-4750-1403
UConn Health · USUniversity of Connecticut · US

Funding

Mechanisms of escaping X chromosome inactivation and translation to X-linked diseaseR35GM124926 · NIGMS · UNIVERSITY OF CONNECTICUT SCH OF MED/DNT · PI PINTER, STEFAN F. · 2017 to 2021
$2.0M
Contributions of sex chromosomal gene homologues to X monosomyR01HL141324 · NHLBI · UNIVERSITY OF CONNECTICUT SCH OF MED/DNT · PI PINTER, STEFAN F. · 2018 to 2021
$1.6M
NHLBI NIH HHS R01 HL141324NIGMS NIH HHS R35 GM124926
6 · The paper itself

Abstract

Mammalian sex chromosomes encode homologous X/Y gene pairs that were retained on the Y chromosome in males and escape X chromosome inactivation (XCI) in females. Inferred to reflect X/Y pair dosage sensitivity, monosomy X is a leading cause of miscarriage in humans with near full penetrance. This phenotype is shared with many other mammals but not the mouse, which offers sophisticated genetic tools to generate sex chromosomal aneuploidy but also tolerates its developmental impact. To address this critical gap, we generated X-monosomic human induced pluripotent stem cells (hiPSCs) alongside otherwise isogenic euploid controls from male and female mosaic samples. Phased genomic variants in these hiPSC panels enable systematic investigation of X/Y dosage-sensitive features using in vitro models of human development. Here, we demonstrate the utility of these validated hiPSC lines to test how X/Y-linked gene dosage impacts a widely used model for human syncytiotrophoblast development. While these isogenic panels trigger a

Indexed as

Gene DosageInduced Pluripotent Stem CellsTrophoblastsTurner SyndromeAnimalsCell LineChorionic GonadotropinChromosomes, Human, XFemaleHumansMaleMicePlacenta Growth FactorPregnancyChorionic GonadotropinPlacenta Growth Factormonosomy XplacentatrophoblastTurner syndromeX chromosome inactivation

Identifiers

PMID36161909
PMCPMC9546589
OpenAlexW4297093916

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.