Rare missense variants in Tropomyosin‐4 ( TPM4 ) are associated with platelet dysfunction, cytoskeletal defects, and excessive bleeding-Reference-Cited by-同舟云学术

Rare missense variants in Tropomyosin‐4 ( TPM4 ) are associated with platelet dysfunction, cytoskeletal defects, and excessive bleeding

Published:2021-11-21 Issue:2 Volume:20 Page:478-485
ISSN:1538-7933
Container-title:Journal of Thrombosis and Haemostasis
language:en
Short-container-title:J of Thrombosis Haemost

Author:

Stapley Rachel J.¹^ORCID,Poulter Natalie S.¹²,Khan Abdullah O.¹^ORCID,Smith Christopher W.¹,Bignell Patricia³,Fratter Carl³,Lester Will⁴,Lowe Gillian⁴,Morgan Neil V.¹^ORCID,Morgan Neil,Watson Steve,Harrison Paul,Lordkipanidze Marie,Mumford Andrew D.,Mundell Stuart J.,Gissen Paul,Daly Martina E.,Clark Justin,Williams Mike,Motwani Jayashree,Marshall Dianne,Lawson Natalie,Nyatanga Priscilla,Mann Pat,Kirwan Julie,Percy Charles,Green Pam,Hupston Helen,Nagapachetty Koomaravel,Dwenger Elizabeth,Rourke Ann O,Pope Martin,Edmead, Camillia,Greenway April,Makris Michael,Payne Jeanette,Pavord Sue,Gooding, Richard,Dattani Rashesh,Grimley Gerry Dolan, Charlotte,Stokley Simone,Astwood Emma,Longmuir Karyn,Chang Cherry,Foros Merri,Kightley, Michelle,Trower Linda,Thachil Jecko,Bolton Maggs Paula,Hay Charlie,Pike Gill,Will Andrew,Grainger John,Foulkes Matt,Fareh Mona,Talks Kate,Biss Tina,Kesteven Patrick,Hanley John,Vowles Julie,Basey Lesley,Knaggs Kevin,Barnes Michelle,Collins Peter,Rayment Rachel,Alikhan Raza,Rebecca Morris Ana Guerrero,Mansell Dianne,Toh Cheng Hock,Martlew Vanessa,Murphy Elaine,Lachmann Robin,Rose Peter,Chapman Oliver,Lokare Anand,Marshall Kathryn,Khan Naseem,Keeling David,Curry, Nikki,Giangrande Paul,Austin Steve,Bevan, David,Alamelu Jayanthi,Allsup David,Fletcher Andrew,Gladstone Katherine,Fenwick Jeanette,Woods, Philippa,Camp Darren,James Beki,Preston Suzie,Spencer Collette,Pike, Alexandra,Lai‐Wah Chung,Thomas Angela,Myers Bethan,Evans Gillian,Elliot Kim,Davies Karen,Graham, Charlotte,Foad Miranda,Smith Jacqueline,Morgan Neil,

Affiliation:

1. Institute of Cardiovascular Sciences College of Medical and Dental Sciences University of Birmingham Birmingham UK

2. Centre of Membrane Proteins and Receptors (COMPARE) Universities of Birmingham and Nottingham Midlands UK

3. Oxford Genetics Laboratories Oxford University Hospitals NHS Foundation Trust Oxford UK

4. Comprehensive Care Haemophilia Centre University Hospital Birmingham NHS Foundation Trust Birmingham UK

Funder

British Heart Foundation

Publisher

Wiley

Subject

Hematology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/jth.15584

Reference18 articles.

1. Congenital platelet disorders and understanding of platelet function

2. Inherited platelet diseases with normal platelet count: phenotypes, genotypes and diagnostic strategy

3. Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders

4. A comprehensive bioinformatic analysis of 126 patients with an inherited platelet disorder to identify both sequence and copy number genetic variants

5. Inherited platelet disorders: toward DNA-based diagnosis

Cited by 5 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Comprehensive functional characterization of a novel ANO6 variant in a new patient with Scott syndrome;Journal of Thrombosis and Haemostasis;2024-08

2. Sources of gene expression variation in a globally diverse human cohort;Nature;2024-07-17

3. Platelet genetic testing by next‐generation sequencing: A practical update;International Journal of Laboratory Hematology;2023-07-18

4. Corrigendum;Journal of Thrombosis and Haemostasis;2022-06

5. A novel nonsense variant in TPM4 caused dominant macrothrombocytopenia, mild bleeding tendency and disrupted cytoskeleton remodeling;Journal of Thrombosis and Haemostasis;2022-05