Evidence map›Paper›PMID 31119735›Full record

ArticleBritish journal of haematology2019

Genome-wide linkage analysis and whole-exome sequencing identifies an ITGA2B mutation in a family with thrombocytopenia.

Rami Khoriaty, Ayse B Ozel, Shweta Ramdas, Charles Ross, Karl Desch, Jordan A Shavit, Lesley Everett, David Siemieniak, Jun Z Li, David Ginsburg

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

Article in British journal of haematology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
1.0field-weighted citation impact, top 23% 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

5 citing papers in PubMed, 11 citations in OpenAlex.

  1. Article
  2. Improving access to exome sequencing in a medically underserved population through the Texome Project.Genetics in medicine : official journal of the American College of Medical Genetics · 2024
    Article
  3. Diagnosing Czech Patients with Inherited Platelet Disorders.International journal of molecular sciences · 2022
    Article
  4. Article
  5. Article
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.

Rami KhoriatyDepartment of Internal Medicine, University of Michigan, Ann Arbor, MI, USA.ORCID 0000-0003-2539-5953
Ayse B OzelDepartment of Human Genetics, University of Michigan, Ann Arbor, MI, USA.
Shweta RamdasDepartment of Computational Medicine and Bioinformatics, University of Michigan, Ann Arbor, MI, USA.
Charles RossDepartment of Pathology, University of Michigan, Ann Arbor, MI, USA.
Karl DeschDepartment of Pediatrics and Communicable Disease, University of Michigan, Ann Arbor, MI, USA.
Jordan A ShavitDepartment of Pediatrics and Communicable Disease, University of Michigan, Ann Arbor, MI, USA.
Lesley EverettDepartment of Human Genetics, University of Michigan, Ann Arbor, MI, USA.
David SiemieniakLife Sciences Institute, University of Michigan, Ann Arbor, MI, USA.
Jun Z LiDepartment of Human Genetics, University of Michigan, Ann Arbor, MI, USA.
David GinsburgDepartment of Internal Medicine, University of Michigan, Ann Arbor, MI, USA.
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 Molecular Genetics of Venous Thromboembolic DiseaseR01HL141399 · NHLBI · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI DESCH, KARL C · 2018 to 2022
$1.9M
Dissecting the Genetics of Human Hemostatic Disorders Using ZebrafishR01HL124232 · NHLBI · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI SHAVIT, JORDAN A · 2015 to 2019
$1.9M
Identification of novel therapeutics for hemostatic disorders using zebrafishR01HL125774 · NHLBI · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI SHAVIT, JORDAN A · 2018 to 2020
$899k
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
Howard Hughes Medical InstituteNCATS NIH HHS UL1 TR000433NCATS NIH HHS UL1 TR002240NHLBI NIH HHS K08 HL128794NHLBI NIH HHS R01 HL124232NHLBI NIH HHS R01 HL125774NHLBI NIH HHS R01 HL141399NHLBI NIH HHS R01 HL148333NHLBI NIH HHS R35 HL135793
6 · The paper itself

Abstract

Hereditary thrombocytopenias can be subclassified based on mode of inheritance and platelet size. Here we report a family with autosomal dominant (AD) thrombocytopenia with normal platelet size. Linkage analysis and whole exome sequencing identified the R1026W substitution in ITGA2B as the causative defect. The same mutation has been previously reported in 7 Japanese families/patients with AD thrombocytopenia, but all of these patients had macrothrombocytopenia. This is the first report of a family with AD thrombocytopenia with normal platelet size resulting from mutation in ITGA2B. ITGA2B mutations should therefore be included in the differential diagnosis of this latter disorder.

Indexed as

Exome SequencingGenetic LinkageMutationBlood PlateletsBone MarrowFemaleGenome-Wide Association StudyGenotypeHumansIntegrin alpha2MaleMicrosatellite RepeatsPedigreePlatelet CountSequence Analysis, DNAThrombocytopeniaIntegrin alpha2ITGA2B protein, humanautosomal dominant thrombocytopeniahereditary thrombocytopeniaITGA2Blinkage analysiswhole exome sequencing

Identifiers

PMID31119735
PMCPMC6679728
OpenAlexW2945992993

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.