Evidence map›Paper›PMID 30803555›Full record

ArticleCancer genetics2019

A diagnosis of discernment: Identifying a novel ATRX mutation in myelodysplastic syndrome with acquired α-thalassemia.

Jedrzej Wykretowicz, Yeohan Song, Brooke McKnight, Sung Won Choi, John Magenau, Radhika Takiar, Paul El Tomb, David Ginsburg, Dale Bixby, Rami Khoriaty

Open access · greenAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Cancer genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
0.5field-weighted citation impact, top 34% 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

0 citing papers in PubMed, 4 citations in OpenAlex.

No citing paper in PubMed yet.

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

10 authors at 2 institutions in 1 country.

Jedrzej WykretowiczDepartment of Internal Medicine, University of Michigan, 1524 Basic Science Research Building, Ann Arbor, MI 48109, USA.
Yeohan SongUniversity of Michigan Medical School, University of Michigan, Ann Arbor, MI, USA.
Brooke McKnightCollege of Literature Science and the Arts, University of Michigan, Ann Arbor, MI, USA.
Sung Won ChoiDepartment of Pediatrics and Communicable Diseases, University of Michigan, Ann Arbor, MI, USA.
John MagenauDepartment of Internal Medicine, University of Michigan, 1524 Basic Science Research Building, Ann Arbor, MI 48109, USA.
Radhika TakiarDepartment of Internal Medicine, University of Michigan, 1524 Basic Science Research Building, Ann Arbor, MI 48109, USA.
Paul El TombDepartment of Internal Medicine, University of Michigan, Ann Arbor, MI, USA.
David GinsburgDepartment of Internal Medicine, University of Michigan, 1524 Basic Science Research Building, Ann Arbor, MI 48109, USA; Department of Pediatrics and Communicable Diseases, University of Michigan, Ann Arbor, MI, USA; Department of Human Genetics, University of Michigan, Ann Arbor, MI, USA; Howard Hughes Medical Institute, Ann Arbor, MI, USA.
Dale BixbyDepartment of Internal Medicine, University of Michigan, 1524 Basic Science Research Building, Ann Arbor, MI 48109, USA.
Rami KhoriatyDepartment of Internal Medicine, University of Michigan, 1524 Basic Science Research Building, Ann Arbor, MI 48109, USA; Program in Cellular and Molecular Biology, University of Michigan, Ann Arbor, MI, USA. Electronic address: ramikhor@umich.edu.
University of Michigan · USHoward Hughes Medical Institute · US

Funding

Michigan Institute for Clinical and Health Research (MICHR)UL1TR002240 · NCATS · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI LUMENG, JULIE C, MASHOUR, GEORGE ALEXANDER · 2017 to 2022
$54.9M
Michigan Institute for Clinical and Health Research (MCHR)UL1TR000433 · NCATS · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI MASHOUR, GEORGE ALEXANDER · 2012 to 2016
$49.9M
The molecular pathophysiology of the congenital dyserythropoietic anemiasR01HL148333 · NHLBI · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI Rami Khoriaty · 2019 to 2026
$4.6M
The Molecular Genetics of HemostasisR35HL135793 · NHLBI · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI GINSBURG, DAVID · 2017 to 2023
$4.1M
The Evolution of the Mammalian SEC23 Paralogs and the Molecular Pathogenesis of Congenital Dyserythropoietic Anemia type IIK08HL128794 · NHLBI · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI KHORIATY, RAMI · 2015 to 2019
$812k
Phase II Trial of Vorinostat plus Tacrolimus and Mycophenolate to Prevent GVHDK23AI091623 · NIAID · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI CHOI, SUNG WON · 2011 to 2015
$658k
Howard Hughes Medical InstituteNCATS NIH HHS UL1 TR000433NCATS NIH HHS UL1 TR002240NHLBI NIH HHS K08 HL128794NHLBI NIH HHS R01 HL148333NHLBI NIH HHS R35 HL135793NIAID NIH HHS K23 AI091623
6 · The paper itself

Abstract

Myelodysplastic syndromes (MDS) are a heterogeneous category of myeloid neoplasms that represent the most common class of acquired bone marrow failure syndromes in adults. MDS is typically associated with a hypoproliferative macrocytic anemia, but atypical findings on initial diagnostic evaluations can raise concern for a distinct pathophysiological process and lead to the investigation of alternative etiologies. Here, we report a case of MDS with a concomitant hypoproliferative microcytic and hypochromic anemia that led to the identification of acquired hemoglobin H due to a novel somatic ATRX mutation.

Indexed as

alpha-ThalassemiaBase SequenceGenetic Diseases, X-LinkedHumansMaleMiddle AgedMutationMyelodysplastic SyndromesX-linked Nuclear ProteinATRX protein, humanX-linked Nuclear ProteinAcquired hemoglobin HATRXMyelodysplastic syndromes

Identifiers

PMID30803555
PMCPMC6391734
OpenAlexW2911061123

What OpenQuestion holds

Textmetadata
LicenceTDM
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.