Evidence map›Paper›PMID 32303876›Full record

ArticleJournal of clinical immunology2020

Infantile Myelofibrosis and Myeloproliferation with CDC42 Dysfunction.

Jeffrey M Verboon, Dilnar Mahmut, Ah Ram Kim, Mitsutoshi Nakamura, Nour J Abdulhay, Satish K Nandakumar, Namrata Gupta, Thomas E Akie, Amy E Geddis, Becky Manes and 10 more

Open access · hybridAbstract readCase Reports
In one paragraph

Article in Journal of clinical immunology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.

0numbers the graph read from it
0cells of the map it votes in
15citing papers in PubMed
3.3field-weighted citation impact, top 7% 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

15 citing papers in PubMed, 31 citations in OpenAlex.

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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

20 authors at 11 institutions in 1 country.

Jeffrey M VerboonDivision of Hematology/Oncology, Boston Children's Hospital and Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School, Boston, MA, USA.
Dilnar MahmutDivision of Hematology/Oncology, Boston Children's Hospital and Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School, Boston, MA, USA.
Ah Ram KimDivision of Hematology/Oncology, Boston Children's Hospital and Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School, Boston, MA, USA.
Mitsutoshi NakamuraDivision of Basic Sciences, Fred Hutchinson Cancer Research Center, Seattle, WA, USA.
Nour J AbdulhayDivision of Hematology/Oncology, Boston Children's Hospital and Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School, Boston, MA, USA.
Satish K NandakumarDivision of Hematology/Oncology, Boston Children's Hospital and Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School, Boston, MA, USA.
Namrata GuptaBroad Institute of MIT and Harvard, Cambridge, MA, USA.
Thomas E AkieDivision of Hematology/Oncology, Boston Children's Hospital and Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School, Boston, MA, USA.
Amy E GeddisCancer and Blood Disorders Clinic, Seattle Children's Hospital, Seattle, WA, USA.
Becky ManesDepartment of Pediatrics, Vanderbilt University School of Medicine, Nashville, TN, USA.
Meghan E KappDepartment of Pathology, Microbiology, and Immunology, Vanderbilt University Medical Center, Nashville, TN, USA.
Inga HofmannDivision of Hematology/Oncology, Boston Children's Hospital and Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School, Boston, MA, USA.
Stacey B GabrielBroad Institute of MIT and Harvard, Cambridge, MA, USA.
Daryl E KleinDepartment of Pharmacology, Yale Cancer Biology Institute, Yale University School of Medicine, West Haven, CT, USA.
David A WilliamsDivision of Hematology/Oncology, Boston Children's Hospital and Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School, Boston, MA, USA.
Haydar A FrangoulThe Children's Hospital at TriStar Centennial, Sarah Cannon Research Institute, Nashville, TN, USA.
Susan M ParkhurstDivision of Basic Sciences, Fred Hutchinson Cancer Research Center, Seattle, WA, USA.
Genevieve M CraneDepartment of Pathology and Laboratory Medicine, Weill Cornell Medicine, New York, NY, USA.
Alan B CantorDivision of Hematology/Oncology, Boston Children's Hospital and Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School, Boston, MA, USA. alan.cantor@childrens.harvard.edu.
Vijay G SankaranDivision of Hematology/Oncology, Boston Children's Hospital and Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School, Boston, MA, USA. sankaran@broadinstitute.org.
Broad Institute · USBoston Children's Hospital · USDana-Farber Cancer Institute · USFred Hutch Cancer Center · USHarvard University · USCornell University · USSarah Cannon · USSeattle Children's Hospital · USVanderbilt University · USVanderbilt University Medical Center · USYale Cancer Center · US

Funding

Systematic Genetic Dissection of Human ErythropoiesisR01DK103794 · NIDDK · BOSTON CHILDREN'S HOSPITAL · PI Vijay Ganesh Sankaran · 2014 to 2026
$5.9M
Mechanoregulation of Cell Functions during EmbryogenesisR01HD095798 · NICHD · FRED HUTCHINSON CANCER RESEARCH CENTER · PI PARKHURST, SUSAN M · 2018 to 2022
$1.8M
NICHD NIH HHS R01 HD095798NIDDK NIH HHS R01 DK103794
6 · The paper itself

Abstract

Studies of genetic blood disorders have advanced our understanding of the intrinsic regulation of hematopoiesis. However, such genetic studies have only yielded limited insights into how interactions between hematopoietic cells and their microenvironment are regulated. Here, we describe two affected siblings with infantile myelofibrosis and myeloproliferation that share a common de novo mutation in the Rho GTPase CDC42 (Chr1:22417990:C>T, p.R186C) due to paternal germline mosaicism. Functional studies using human cells and flies demonstrate that this CDC42 mutant has altered activity and thereby disrupts interactions between hematopoietic progenitors and key tissue microenvironmental factors. These findings suggest that further investigation of this and other related disorders may provide insights into how hematopoietic cell-microenvironment interactions play a role in human health and can be disrupted in disease. In addition, we suggest that deregulation of CDC42 may underlie more common blood disorders, such as primary myelofibrosis.

Indexed as

cdc42 GTP-Binding ProteinCell CycleCellular MicroenvironmentExome SequencingHEK293 CellsHematopoiesisHumansInfantInfant, NewbornMutationPrimary MyelofibrosisSiblingscdc42 GTP-Binding Proteinbone marrow microenvironmentPrimary MyelofibrosisRho GTPases

Identifiers

PMID32303876
PMCPMC7253386
OpenAlexW3016762862

What OpenQuestion holds

Textmetadata
LicenceCC BY
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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.