Evidence map›Paper›PMID 42751867›Full record

ArticleBioscience reports2026

The membrane skeleton density of red blood cells in MYH9-related disease patients is decreased.

Shaopeng Sun, Jiabin Pan, Ning Zhang, Xianghong Jin, Tie-Nan Zhu, Zhijie Kang, Jihong Hao, Xiang-Dong Li

Abstract read
In one paragraph

Article in Bioscience reports, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

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2 · The registry

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3 · Its place in the literature

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4 · The record

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5 · Who and what money

Authors and funding

8 authors.

Shaopeng SunState Key Laboratory of Animal Biodiversity Conservation and Integrated Pest Management, Institute of Zoology, Chinese Academy of Sciences, Beijing 100101, China.
Jiabin PanState Key Laboratory of Animal Biodiversity Conservation and Integrated Pest Management, Institute of Zoology, Chinese Academy of Sciences, Beijing 100101, China.
Ning ZhangState Key Laboratory of Animal Biodiversity Conservation and Integrated Pest Management, Institute of Zoology, Chinese Academy of Sciences, Beijing 100101, China.
Xianghong JinDepartment of Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, China.
Tie-Nan ZhuDepartment of Hematology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China.
Zhijie KangDepartment of Hematology, the Second Hospital of Dalian Medical University; Liaoning Medical Center for Hematopoietic Stem Cell Transplantation; Liaoning Key Laboratory of Hematopoietic Stem Cell Transplantation and Translational Medicine, Dalian, China.
Jihong HaoDepartment of Clinical Laboratory, the Second Hospital of Hebei Medical University, Shijiazhuang 050000, China.
Xiang-Dong LiState Key Laboratory of Animal Biodiversity Conservation and Integrated Pest Management, Institute of Zoology, Chinese Academy of Sciences, Beijing 100101, China.ORCID 0000-0001-8677-9833

Funding

Beijing Natural Science Foundation 7232104National Natural Science Foundation of China 31970657S&T Program of Hebei 22377772D
6 · The paper itself

Abstract

MYH9-related disease (MYH9-RD) is a rare autosomal dominant disorder caused by mutations in MYH9 gene, which encodes the heavy chain of nonmuscle myosin IIA. Nearly all MYH9-RD patients present with macrothrombocytopenia, characterized by decreased platelet count and increased platelet size. In the present study, we collected blood samples from three MYH9-RD patients (R702S, D1424N, and R1464C) and unexpectedly found that the actin levels in the red blood cells (RBCs) from all three MYH9-RD patients are substantially lower than the healthy controls. We further revealed that the levels of two RBC membrane skeleton proteins, α-spectrin and tropomodulin, are also reduced in MYH9-RD RBCs. We showed that the membrane skeleton of MYH9-RD RBCs was more porous and that MYH9-RD RBCs produced more severe deformation under hyperosmotic pressure compared with healthy controls. We propose that defects in the membrane-skeleton network of RBCs may be an abnormal manifestation of MYH9-RD.

Indexed as

Erythrocyte MembraneErythrocytesGenetic Diseases, InbornHearing Loss, SensorineuralMolecular Motor ProteinsMyosin Heavy ChainsThrombocytopeniaActinsFemaleHumansMaleMutationSpectrinActinsMolecular Motor ProteinsMYH9 protein, humanMyosin Heavy ChainsSpectrinMYH9-related diseasenonmuscle myosin IIARBC membrane skeletonred blood cell

Identifiers

PMID42751867
PMCPMC13623819

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