Evidence map›Paper›PMID 28238796›Full record

ArticleStem cell reports2017

EPHRIN-B1 Mosaicism Drives Cell Segregation in Craniofrontonasal Syndrome hiPSC-Derived Neuroepithelial Cells.

Terren K Niethamer, Andrew R Larson, Audrey K O'Neill, Marina Bershteyn, Edward C Hsiao, Ophir D Klein, Jason H Pomerantz, Jeffrey O Bush

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

Article in Stem cell reports, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.

0numbers the graph read from it
0cells of the map it votes in
10citing papers in PubMed
0.6field-weighted citation impact, top 40% 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

10 citing papers in PubMed, 12 citations in OpenAlex.

  1. Article
  2. Review
  3. Article
  4. Review
  5. Article
  6. Dosage Compensation in Females with X-Linked Metabolic Disorders.International journal of molecular sciences · 2021
    Review
  7. 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.

Terren K NiethamerProgram in Craniofacial Biology, University of California, San Francisco, San Francisco, CA 94143, USA; Department of Cell and Tissue Biology, University of California, San Francisco, San Francisco, CA 94143, USA; Biomedical Sciences Graduate Program, University of California, San Francisco, San Francisco, CA 94143, USA.
Andrew R LarsonProgram in Craniofacial Biology, University of California, San Francisco, San Francisco, CA 94143, USA; Department of Cell and Tissue Biology, University of California, San Francisco, San Francisco, CA 94143, USA.
Audrey K O'NeillProgram in Craniofacial Biology, University of California, San Francisco, San Francisco, CA 94143, USA; Department of Cell and Tissue Biology, University of California, San Francisco, San Francisco, CA 94143, USA.
Marina BershteynEli and Edythe Broad Center of Regeneration Medicine and Stem Cell Research, University of California, San Francisco, San Francisco, CA 94143, USA.
Edward C HsiaoProgram in Craniofacial Biology, University of California, San Francisco, San Francisco, CA 94143, USA; Biomedical Sciences Graduate Program, University of California, San Francisco, San Francisco, CA 94143, USA; Institute for Human Genetics, University of California, San Francisco, San Francisco, CA 94143, USA; Department of Medicine, University of California, San Francisco, San Francisco, CA 94143, USA.
Ophir D KleinProgram in Craniofacial Biology, University of California, San Francisco, San Francisco, CA 94143, USA; Biomedical Sciences Graduate Program, University of California, San Francisco, San Francisco, CA 94143, USA; Institute for Human Genetics, University of California, San Francisco, San Francisco, CA 94143, USA; Department of Pediatrics, University of California, San Francisco, San Francisco, CA 94143, USA; Department of Orofacial Sciences, University of California, San Francisco, San Francisco, CA 94143, USA.
Jason H PomerantzProgram in Craniofacial Biology, University of California, San Francisco, San Francisco, CA 94143, USA; Biomedical Sciences Graduate Program, University of California, San Francisco, San Francisco, CA 94143, USA; Eli and Edythe Broad Center of Regeneration Medicine and Stem Cell Research, University of California, San Francisco, San Francisco, CA 94143, USA; Department of Orofacial Sciences, University of California, San Francisco, San Francisco, CA 94143, USA; Division of Plastic and Reconstructive Surgery, Department of Surgery, University of California, San Francisco, San Francisco, CA 94143, USA.
Jeffrey O BushProgram in Craniofacial Biology, University of California, San Francisco, San Francisco, CA 94143, USA; Department of Cell and Tissue Biology, University of California, San Francisco, San Francisco, CA 94143, USA; Biomedical Sciences Graduate Program, University of California, San Francisco, San Francisco, CA 94143, USA; Institute for Human Genetics, University of California, San Francisco, San Francisco, CA 94143, USA; Eli and Edythe Broad Center of Regeneration Medicine and Stem Cell Research, University of California, San Francisco, San Francisco, CA 94143, USA. Electronic address: jeffrey.bush@ucsf.edu.
University of California, San Francisco · USBroad Center · US

Funding

Mechanisms of Eph/Ephrin signaling in craniofacial morphogenesis and craniofrontonasal syndromeR01DE023337 · NIDCR · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI BUSH, JEFFREY OHMANN · 2013 to 2021
$4.3M
Defining the cellular mechanisms of craniosynostosis in a human induced pluripotent stem cell model of craniofrontonasal syndromeF31DE026059 · NIDCR · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI NIETHAMER, TERREN KATHRYN · 2016 to 2018
$92k
Howard Hughes Medical InstituteNIDCR NIH HHS F31 DE026059NIDCR NIH HHS R01 DE023337
6 · The paper itself

Abstract

Although human induced pluripotent stem cells (hiPSCs) hold great potential for the study of human diseases affecting disparate cell types, they have been underutilized in seeking mechanistic insights into the pathogenesis of congenital craniofacial disorders. Craniofrontonasal syndrome (CFNS) is a rare X-linked disorder caused by mutations in EFNB1 and characterized by craniofacial, skeletal, and neurological anomalies. Heterozygous females are more severely affected than hemizygous males, a phenomenon termed cellular interference that involves mosaicism for EPHRIN-B1 function. Although the mechanistic basis for cellular interference in CFNS has been hypothesized to involve Eph/ephrin-mediated cell segregation, no direct evidence for this has been demonstrated. Here, by generating hiPSCs from CFNS patients, we demonstrate that mosaicism for EPHRIN-B1 expression induced by random X inactivation in heterozygous females results in robust cell segregation in human neuroepithelial cells, thus supplying experimental evidence that Eph/ephrin-mediated cell segregation is relevant to pathogenesis in human CFNS patients.

Indexed as

MosaicismCell DifferentiationCell Self RenewalCellular ReprogrammingChromosomes, Human, XCraniofacial AbnormalitiesEphrin-B1FemaleFibroblastsGenetic Predisposition to DiseaseHumansInduced Pluripotent Stem CellsNeural Stem CellsNeuroepithelial CellsX Chromosome InactivationEphrin-B1cell segregationcell sortingcraniofacialcraniofrontonasal syndrome (CFNS)EFNB1Eph/ephrin signalinghuman induced pluripotent stem cells (hiPSCs)neural progenitor cellsneuroepithelial cellsX chromosome inactivation (XCI)

Identifiers

PMID28238796
PMCPMC5355632
OpenAlexW2590449798

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.