Platelet function and filamin A expression in two families with novel <i>FLNA</i> gene mutations associated with periventricular nodular heterotopia and panlobular emphysema-Reference-Cited by-同舟云学术

Platelet function and filamin A expression in two families with novel FLNA gene mutations associated with periventricular nodular heterotopia and panlobular emphysema

Published:2022-02-14 Issue:6 Volume:188 Page:1716-1722
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:American J of Med Genetics Pt A

Author:

Tanner Laura M.¹²^ORCID,Kunishima Shinji³,Lehtinen Elina⁴,Helin Tuukka⁵,Volmonen Kirsi⁶,Lassila Riitta⁴⁵,Pöyhönen Minna¹²

Affiliation:

1. HUSLAB Department of Clinical Genetics Helsinki University Hospital Helsinki Finland

2. Department of Medical and Clinical Genetics University of Helsinki Helsinki Finland

3. Department of Medical Technology Gifu University of Medical Science Gifu Japan

4. Coagulation Disorders Unit Helsinki University Hospital, Research Program Unit in Systems Oncology, University of Helsinki Helsinki Finland

5. HUSLAB Department of Chemistry and Microbiology Helsinki University Hospital Helsinki Finland

6. HUS Medical Imaging Center Helsinki University Hospital Helsinki Finland

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62690

Reference28 articles.

1. FlnA-null megakaryocytes prematurely release large and fragile platelets that circulate poorly

2. Heterogeneity of Platelet Functional Alterations in Patients With Filamin A Mutations

3. Gain-of-Function Mutation in Filamin A Potentiates Platelet Integrin α IIb β 3 Activation

4. Lung Transplantation for FLNA -Associated Progressive Lung Disease

5. FLNA mutations in surviving males presenting with connective tissue findings: two new case reports and review of the literature

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

2. Filamin A in platelets: Bridging the (signaling) gap between the plasma membrane and the actin cytoskeleton;Frontiers in Molecular Biosciences;2022-12-20