Evidence map›Paper›PMID 39922196›Full record

ArticleAmerican journal of human genetics2025

Isogenic hiPSC models of Turner syndrome development reveal shared roles of inactive X and Y in the human cranial neural crest network.

Darcy T Ahern, Prakhar Bansal, Isaac V Faustino, Owen M Chambers, Erin C Banda, Heather R Glatt-Deeley, Rachael E Massey, Yuvabharath Kondaveeti, Stefan F Pinter

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In one paragraph

Article in American journal of human genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
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

1 citing paper in PubMed.

  1. Review
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

9 authors.

Darcy T AhernGraduate Program in Genetics and Developmental Biology, UCONN Health, University of Connecticut, Farmington, CT, USA; Department of Genetics and Genome Sciences, UCONN Health, University of Connecticut, Farmington, CT, USA.
Prakhar BansalGraduate Program in Genetics and Developmental Biology, UCONN Health, University of Connecticut, Farmington, CT, USA; Department of Genetics and Genome Sciences, UCONN Health, University of Connecticut, Farmington, CT, USA.
Isaac V FaustinoDepartment of Genetics and Genome Sciences, UCONN Health, University of Connecticut, Farmington, CT, USA.
Owen M ChambersDepartment of Genetics and Genome Sciences, UCONN Health, University of Connecticut, Farmington, CT, USA.
Erin C BandaDepartment of Genetics and Genome Sciences, UCONN Health, University of Connecticut, Farmington, CT, USA.
Heather R Glatt-DeeleyDepartment of Genetics and Genome Sciences, UCONN Health, University of Connecticut, Farmington, CT, USA.
Rachael E MasseyGraduate Program in Genetics and Developmental Biology, UCONN Health, University of Connecticut, Farmington, CT, USA; Department of Genetics and Genome Sciences, UCONN Health, University of Connecticut, Farmington, CT, USA; Institute for Systems Genomics, University of Connecticut, Farmington, CT, USA.
Yuvabharath KondaveetiDepartment of Genetics and Genome Sciences, UCONN Health, University of Connecticut, Farmington, CT, USA.
Stefan F PinterGraduate Program in Genetics and Developmental Biology, UCONN Health, University of Connecticut, Farmington, CT, USA; Department of Genetics and Genome Sciences, UCONN Health, University of Connecticut, Farmington, CT, USA; Institute for Systems Genomics, University of Connecticut, Farmington, CT, USA. Electronic address: spinter@uchc.edu.

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
The UConn/JAX-GM Training Program in Genomic ScienceT32HG010463 · NHGRI · UNIVERSITY OF CONNECTICUT SCH OF MED/DNT · PI Mark D ADAMS, Christine R Beck · 2020 to 2026
$1.5M
Developmental constraints shaping human sex chromosomes and escape from X inactivationR35GM153326 · NIGMS · UNIVERSITY OF CONNECTICUT SCH OF MED/DNT · PI Stefan F. Pinter · 2024 to 2026
$1.3M
NHGRI NIH HHS T32 HG010463NHLBI NIH HHS R01 HL141324NIGMS NIH HHS R35 GM124926NIGMS NIH HHS R35 GM153326
6 · The paper itself

Abstract

Viable human aneuploidy can be challenging to model in rodents due to syntenic boundaries or primate-specific biology. Human monosomy-X (45,X) causes Turner syndrome (TS), altering craniofacial, skeletal, endocrine, and cardiovascular development, which in contrast remain unaffected in X-monosomic mice. To learn how monosomy-X may impact embryonic development, we turned to 45,X and isogenic euploid human induced pluripotent stem cells (hiPSCs) from male and female mosaic donors. Because the neural crest (NC) is hypothesized to give rise to craniofacial and cardiovascular changes in TS, we assessed differential expression of hiPSC-derived anterior NC cells (NCCs). Across three independent isogenic panels, 45,X NCCs show impaired acquisition of PAX7

Indexed as

Chromosomes, Human, XChromosomes, Human, YInduced Pluripotent Stem CellsNeural CrestSkullTurner SyndromeAnimalsFemaleHumansMaleMiceSOXE Transcription FactorsTOR Serine-Threonine KinasesSOXE Transcription FactorsTOR Serine-Threonine Kinasesgene dosagehaploinsufficiencyhuman iPSCneural crestprotein synthesisribosome biogenesissex chromosome evolutionTurner syndromeX chromosome inactivationY chromosome

Identifiers

PMID39922196
PMCPMC11947172

What Socratic 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 Socratic graph.