Evidence map›Paper›PMID 41349512›Full record

ArticleAmerican journal of human genetics2025

Functional classification of platelet gene variants using CRISPR HDR in CD34

Yasuhiro Kosaka, Brandon Lopez, Nina Kishimoto, Shancy Jacob, Emilie Montenont, Rodrigo Huallanca, Graeson Coughenour, Jorge Di Paola, Justyne Ross, Kristy Lee and 3 more

Abstract read
PubMed Full text at PMC Publisher
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. 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

13 authors.

Yasuhiro KosakaThe University of Utah, Molecular Medicine Program, Salt Lake City, UT, USA.
Brandon LopezThe University of Utah, Molecular Medicine Program, Salt Lake City, UT, USA.
Nina KishimotoThe University of Utah, Molecular Medicine Program, Salt Lake City, UT, USA.
Shancy JacobThe University of Utah, Molecular Medicine Program, Salt Lake City, UT, USA; The University of Utah, Department of Internal Medicine, Salt Lake City, UT, USA; The University of Utah, Division of Pulmonary Medicine, Salt Lake City, UT, USA.
Emilie MontenontThe University of Utah, Molecular Medicine Program, Salt Lake City, UT, USA.
Rodrigo HuallancaThe University of Utah, Molecular Medicine Program, Salt Lake City, UT, USA.
Graeson CoughenourThe University of Utah, Molecular Medicine Program, Salt Lake City, UT, USA.
Jorge Di PaolaDivision of Pediatric Hematology Oncology, Department of Pediatrics, Washington University School of Medicine in St. Louis, St. Louis, MO, USA.
Justyne RossDepartment of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.
Kristy LeeDepartment of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.
Matthew T RondinaThe University of Utah, Molecular Medicine Program, Salt Lake City, UT, USA; The University of Utah, Department of Internal Medicine, Salt Lake City, UT, USA; University of Utah, Division of Hematology and Hematologic Malignancies, Salt Lake City, UT, USA; University of Utah, Department of Pathology, Salt Lake City, UT, USA; George E. Wahlen VAMC, Department of Internal Medicine, and Geriatric Research and Education Clinical Center, Salt Lake City, UT, USA.
Paul F BrayThe University of Utah, Molecular Medicine Program, Salt Lake City, UT, USA; The University of Utah, Department of Internal Medicine, Salt Lake City, UT, USA; University of Utah, Division of Hematology and Hematologic Malignancies, Salt Lake City, UT, USA.
Jesse W RowleyThe University of Utah, Molecular Medicine Program, Salt Lake City, UT, USA; The University of Utah, Department of Internal Medicine, Salt Lake City, UT, USA; University of Utah, Division of Hematology and Hematologic Malignancies, Salt Lake City, UT, USA. Electronic address: jesse.rowley@u2m2.utah.edu.

Funding

Stem Cell and Transplantation BiologyU54DK106829 · NIDDK · FRED HUTCHINSON CANCER RESEARCH CENTER · PI DEREK L STIREWALT · 2015 to 2026
$9.1M
Mitochondrial fusion protein MFN2 prevents platelet death and dysfunctionR01HL144957 · NHLBI · UTAH STATE HIGHER EDUCATION SYSTEM--UNIVERSITY OF UTAH · PI JESSE ROWLEY · 2019 to 2026
$3.2M
Genomics of Megakaryocyte and Platelet BiologyR01HL139825 · NHLBI · WASHINGTON UNIVERSITY · PI DI PAOLA, JORGE A · 2020 to 2023
$2.3M
Evaluation of genetic variants affecting platelet function with CRISPR HDR in human megakaryocytesR01HL166805 · NHLBI · UTAH STATE HIGHER EDUCATION SYSTEM--UNIVERSITY OF UTAH · PI JESSE ROWLEY · 2023 to 2026
$2.1M
Translational Control of Megakaryocyte and Platelet Function in SepsisR01HL142804 · NHLBI · UNIVERSITY OF UTAH · PI RONDINA, MATTHEW THOMAS · 2018 to 2021
$1.9M
Platelet-Leukocyte Interactions in SepsisK24HL155856 · NHLBI · UTAH STATE HIGHER EDUCATION SYSTEM--UNIVERSITY OF UTAH · PI RONDINA, MATTHEW THOMAS · 2021 to 2025
$606k
CSRD VA I01 CX001696NHLBI NIH HHS K24 HL155856NHLBI NIH HHS R01 HL139825NHLBI NIH HHS R01 HL142804NHLBI NIH HHS R01 HL144957NHLBI NIH HHS R01 HL166805NIDDK NIH HHS U54 DK106829
6 · The paper itself

Abstract

The interpretation of genetic variants in inherited diseases, such as inherited platelet disorders (IPDs), remains a major clinical challenge, as most are classified as variants of uncertain significance (VUSs). A key barrier to functional evaluation is the lack of accessible, lineage-appropriate assays that reliably reflect native gene regulation and cell-specific biology. To address this gap, we developed CRIMSON HD (CRISPR-edited megakaryocytes [MKs] for surveying platelet variant functions through homology-directed repair [HDR]), a CRISPR-Cas9 HDR-based genome-editing platform applicable to CD34

Indexed as

Antigens, CD34Blood PlateletsCRISPR-Cas SystemsGenetic VariationMegakaryocytesGene EditingHematopoietic Stem CellsHumansIntegrin alpha2Integrin beta3ThrombastheniaAntigens, CD34Integrin alpha2Integrin beta3ITGA2B protein, humanITGB3 protein, humanCRISPRGlanzmann thrombastheniaHDRhomologous recombinationinherited platelet disordersmegakaryocyteplatelet

Identifiers

PMID41349512
PMCPMC12794656

What OpenQuestion holds

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LicenceCC BY-NC-ND
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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.