Cargando…

Novel SLFN14 mutation associated with macrothrombocytopenia in a patient with severe haemorrhagic syndrome

BACKGROUND: Platelet-type bleeding disorder 20 (BDPLT20), as known as SLFN14-related thrombocytopenia, is a rare inherited thrombocytopenia (IT). Previously, only 5 heterozygous missense mutations in the SLFN14 gene have been reported. METHODS: A comprehensive clinical and laboratory examination of...

Descripción completa

Detalles Bibliográficos
Autores principales:	Polokhov, Dmitrii, Fedorova, Daria, Ignatova, Anastasiya, Ponomarenko, Evgeniya, Rashevskaya, Elena, Martyanov, Alexey, Podoplelova, Nadezhda, Aleksenko, Maxim, Mersiyanova, Irina, Seregina, Elena, Poletaev, Aleksandr, Truchina, Ekaterina, Raykina, Elena, Plyasunova, Svetlana, Novichkova, Galina, Zharkov, Pavel, Panteleev, Mikhail
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2023
Materias:	Letter to the Editor
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10091655/ https://www.ncbi.nlm.nih.gov/pubmed/37041648 http://dx.doi.org/10.1186/s13023-023-02675-9

Ejemplares similares

P1645: THE SEVERITY OF HEMORRHAGIC SYNDROME AND THE WEAKENING OF THE PROCOAGULANT ACTIVITY OF PLATELETS IN PATIENTS WITH WISKOTT-ALDRICH SYNDROME.
por: Polokhov, D., et al.
Publicado: (2022)

Platelet functional abnormalities and clinical presentation in pediatric patients with germline RUNX1, ANKRD26, and ETV6 mutations
por: Ovsyannikova, Galina S., et al.
Publicado: (2022)

Heterogeneity of Integrin α(IIb)β(3) Function in Pediatric Immune Thrombocytopenia Revealed by Continuous Flow Cytometry Analysis
por: Martyanov, Alexey A., et al.
Publicado: (2020)

Mouse Slfn8 and Slfn9 genes complement human cells lacking SLFN11 during the replication stress response
por: Alvi, Erin, et al.
Publicado: (2023)

Platelet functional abnormalities in pediatric patients with kaposiform hemangioendothelioma/Kasabach-Merritt phenomenon
por: Martyanov, Alexey A., et al.
Publicado: (2023)

Platelet function and bleeding at different phases of childhood immune thrombocytopenia
por: Ignatova, Anastasia A., et al.
Publicado: (2021)

Novel variants in GALE cause syndromic macrothrombocytopenia by disrupting glycosylation and thrombopoiesis
por: Marín-Quílez, Ana, et al.
Publicado: (2023)

Novel hemizygous CORO1A variant leads to combined immunodeficiency with defective platelet calcium signaling and cell mobility
por: Khoreva, Anna, et al.
Publicado: (2023)

Identification of novel TUBB1 variants in patients with macrothrombocytopenia
por: ÇALIŞKANER, Zihni Onur, et al.
Publicado: (2021)

Remediation of ABCG5-Linked Macrothrombocytopenia With Ezetimibe Therapy
por: Deng, Libin, et al.
Publicado: (2021)

Structure of PDE3A-SLFN12 complex reveals requirements for activation of SLFN12 RNase
por: Garvie, Colin W., et al.
Publicado: (2021)

Mechanistic understanding of human SLFN11
por: Metzner, Felix J., et al.
Publicado: (2022)

Stomatocytes and macrothrombocytopenia: A blood film for a rare disease
por: La Rosa, Alessandro, et al.
Publicado: (2020)

SLFN14 gene mutations associated with bleeding
por: Stapley, Rachel J., et al.
Publicado: (2019)

SLFN11’s surveillance role in protein homeostasis
por: Murai, Yasuhisa, et al.
Publicado: (2022)

Mutations in tropomyosin 4 underlie a rare form of human macrothrombocytopenia
por: Pleines, Irina, et al.
Publicado: (2017)

Myosin Heavy Chain 9 (MYH9)-Related Congenital Macrothrombocytopenia
por: Thurlapati, Aswani, et al.
Publicado: (2021)

Connecting the dots: Xanthoma, haemolytic anaemia, stomatocytosis and macrothrombocytopenia point to phytosterolaemia
por: Rieu, Jean‐Baptiste, et al.
Publicado: (2023)

Ribosome dysfunction underlies SLFN14-related thrombocytopenia
por: Ver Donck, Fabienne, et al.
Publicado: (2023)

Enhanced hepatic clearance of hyposialylated platelets explains thrombocytopenia in GNE-related macrothrombocytopenia
por: Noordermeer, Tessa, et al.
Publicado: (2022)

Successful Kidney Transplantation in MYH-9-Related Disease Presenting with Severe Macrothrombocytopenia
por: Bülbül, Mustafa Cem, et al.
Publicado: (2023)

A novel nonsense variant in TPM4 caused dominant macrothrombocytopenia, mild bleeding tendency and disrupted cytoskeleton remodeling
por: Marín‐Quílez, Ana, et al.
Publicado: (2022)

Macrothrombocytopenia and dense granule deficiency associated with FLI1 variants: ultrastructural and pathogenic features
por: Saultier, Paul, et al.
Publicado: (2017)

The Importance of Alpha-Actinin Proteins in Platelet Formation and Function, and Their Causative Role in Congenital Macrothrombocytopenia
por: O’Sullivan, Leanne R., et al.
Publicado: (2021)

P1644: NOVEL VARIANTS IN GALE CAUSED SYNDROMIC MACROTHROMBOCYTOPENIA DISRUPTING THROMBOPOIESIS AND GLYCOSYLATION
por: Marin Quilez, A., et al.
Publicado: (2022)

SLFN5 promotes reversible epithelial and mesenchymal transformation in ovarian cancer
por: Xu, Qiao Ping, et al.
Publicado: (2023)

New Taxonomic Arrangement of Dicranella s.l. and Aongstroemia s.l. (Dicranidae, Bryophyta)
por: Fedosov, Vladimir, et al.
Publicado: (2023)

Platelet Surface-Associated Activation and Secretion-Mediated Inhibition of Coagulation Factor XII
por: Zakharova, Natalia V., et al.
Publicado: (2015)

Macrothrombocytopenia of Takenouchi-Kosaki syndrome is ameliorated by CDC42 specific- and lipidation inhibitors in MEG-01 cells
por: Daimon, Etsuko, et al.
Publicado: (2021)

Characterization of Novel Ribosome-Associated Endoribonuclease SLFN14 from Rabbit Reticulocytes
por: Pisareva, Vera P., et al.
Publicado: (2015)

Clinico-pathological and transcriptomic determinants of SLFN11 expression in invasive breast carcinoma
por: Zoppoli, Gabriele, et al.
Publicado: (2015)

Loss of T-cell quiescence by targeting Slfn2 prevents the development and progression of T-ALL
por: Goldshtein, Aviya, et al.
Publicado: (2016)

Resistance to PARP inhibitors by SLFN11 inactivation can be overcome by ATR inhibition
por: Murai, Junko, et al.
Publicado: (2016)

SPDR-4 SLFN11 RENDERS MEDULLOBLASTOMA SENSITIVE TO DNA DAMAGE CHEMOTHERAPIES
por: Nakata, Satoshi, et al.
Publicado: (2022)

Modulation of SLFN11 induces changes in DNA Damage response in breast cancer
por: Raynaud, Christophe Michel, et al.
Publicado: (2023)

αIIbβ3 variants in ten families with autosomal dominant macrothrombocytopenia: Expanding the mutational and clinical spectrum
por: Morais, Sara, et al.
Publicado: (2020)

Role of the novel endoribonuclease SLFN14 and its disease-causing mutations in ribosomal degradation
por: Fletcher, Sarah J., et al.
Publicado: (2018)

PB1791: SLFN11 REGULATES MULTIPLE PATHWAYS THAT ARE IMPORTANT FOR TREATMENT RESPONSE IN AML
por: Small, Sara, et al.
Publicado: (2023)

Demonstration of novel gain-of-function mutations of αIIbβ3: association with macrothrombocytopenia and glanzmann thrombasthenia-like phenotype
por: Kashiwagi, Hirokazu, et al.
Publicado: (2013)

Need for split: integrative taxonomy reveals unnoticed diversity in the subaquatic species of Pseudohygrohypnum (Pylaisiaceae, Bryophyta)
por: Fedosov, Vladimir E., et al.
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_dduvapm5jfpo8npm4j66kgnkuh