Cargando…

Diversity and Impact of Rare Variants in Genes Encoding the Platelet G Protein-Coupled Receptors

Platelet responses to activating agonists are influenced by common population variants within or near G protein-coupled receptor (GPCR) genes that affect receptor activity. However, the impact of rare GPCR gene variants is unknown. We describe the rare single nucleotide variants (SNVs) in the coding...

Descripción completa

Detalles Bibliográficos
Autores principales:	Jones, Matthew L., Norman, Jane E., Morgan, Neil V., Mundell, Stuart J., Lordkipanidzé, Marie, Lowe, Gillian C., Daly, Martina E., Simpson, Michael A., Drake, Sian, Watson, Steve P., Mumford, Andrew D.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Schattauer 2015
Materias:	Cellular Haemostasis and Platelets
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4510585/ https://www.ncbi.nlm.nih.gov/pubmed/25567036 http://dx.doi.org/10.1160/TH14-08-0679

Ejemplares similares

Use of next‐generation sequencing and candidate gene analysis to identify underlying defects in patients with inherited platelet function disorders
por: Leo, V. C., et al.
Publicado: (2015)

Transcriptomic Analysis of the Ion Channelome of Human Platelets and Megakaryocytic Cell Lines
por: Wright, Joy R., et al.
Publicado: (2016)

The Functions of the A1A2A3 Domains in Von Willebrand Factor Include Multimerin 1 Binding
por: Parker, D’Andra N., et al.
Publicado: (2016)

Haemotoxic snake venoms: their functional activity, impact on snakebite victims and pharmaceutical promise
por: Slagboom, Julien, et al.
Publicado: (2017)

Multiparameter platelet function analysis of bleeding patients with a prolonged platelet function analyser closure time
por: Heubel‐Moenen, Floor C. J. I., et al.
Publicado: (2022)

Platelet degranulation and bleeding phenotype in a large cohort of Von Willebrand disease patients
por: Swinkels, Maurice, et al.
Publicado: (2022)

Clinical characteristics of human platelet antigen (HPA)‐1a and HPA‐5b alloimmunised pregnancies and the association between platelet HPA‐5b antibodies and symptomatic fetal neonatal alloimmune thrombocytopenia
por: de Vos, Thijs W., et al.
Publicado: (2021)

Prevalence, burden and treatment effects of vaginal bleeding in women with (suspected) congenital platelet disorders throughout life: a cross‐sectional study
por: Punt, Marieke C., et al.
Publicado: (2021)

Effective estimation of correct platelet counts in pseudothrombocytopenia using an alternative anticoagulant based on magnesium salt
por: Schuff-Werner, Peter, et al.
Publicado: (2013)

Platelet size for distinguishing between inherited thrombocytopenias and immune thrombocytopenia: a multicentric, real life study
por: Noris, Patrizia, et al.
Publicado: (2013)

Haematological variables and risk of future venous thromboembolism in the British Regional Heart Study on men. Combined D‐dimer and APTT as a predictive test for thromboembolism?
por: Wannamethee, S. Goya, et al.
Publicado: (2022)

Utility of the ISTH bleeding assessment tool in predicting platelet defects in participants with suspected inherited platelet function disorders
por: Lowe, G C, et al.
Publicado: (2013)

The DiPEP (Diagnosis of PE in Pregnancy) biomarker study: An observational cohort study augmented with additional cases to determine the diagnostic utility of biomarkers for suspected venous thromboembolism during pregnancy and puerperium
por: Hunt, Beverley J, et al.
Publicado: (2018)

Menstrual problems in chronic immune thrombocytopenia: A monthly challenge ‐ a cohort study and review
por: van Dijk, Wobke E. M., et al.
Publicado: (2022)

Assessment of romiplostim immunogenicity in adult patients in clinical trials and in a global postmarketing registry
por: Mytych, Daniel T., et al.
Publicado: (2020)

Prospective multicentre cohort study of heparin-induced thrombocytopenia in acute ischaemic stroke patients
por: Kawano, Hiroyuki, et al.
Publicado: (2011)

Lower prevalence of subsegmental pulmonary embolism after application of the YEARS diagnostic algorithm
por: van der Pol, Liselotte M., et al.
Publicado: (2018)

Analysis of preplatelets and their barbell platelet derivatives by imaging flow cytometry
por: Kemble, Samuel, et al.
Publicado: (2022)

Extracellular Ca(2+) modulates ADP-evoked aggregation through altered agonist degradation: implications for conditions used to study P2Y receptor activation
por: Jones, Sarah, et al.
Publicado: (2011)

Complement and cytokine response in acute Thrombotic Thrombocytopenic Purpura
por: Westwood, John-Paul, et al.
Publicado: (2014)

Development of a clinical prediction model for an international normalised ratio ≥ 4·5 in hospitalised patients using vitamin K antagonists
por: Dreijer, Albert R., et al.
Publicado: (2018)

Application of whole‐exome sequencing to direct the specific functional testing and diagnosis of rare inherited bleeding disorders in patients from the Öresund Region, Scandinavia
por: Leinøe, Eva, et al.
Publicado: (2017)

Comorbidities associated with higher von Willebrand factor (VWF) levels may explain the age‐related increase of VWF in von Willebrand disease
por: Atiq, Ferdows, et al.
Publicado: (2018)

Use of anticoagulants and antiplatelet in patients with chronic lymphocytic leukaemia treated with single‐agent ibrutinib
por: Jones, Jeffrey A., et al.
Publicado: (2017)

Predictive value of venous thromboembolism (VTE)‐BLEED to predict major bleeding and other adverse events in a practice‐based cohort of patients with VTE: results of the XALIA study
por: Klok, Frederikus A., et al.
Publicado: (2018)

Glucose levels and diabetes are not associated with the risk of venous thrombosis: results from the MEGA case‐control study
por: Li‐Gao, Ruifang, et al.
Publicado: (2018)

Citrullinated histone H3, a biomarker for neutrophil extracellular trap formation, predicts the risk of mortality in patients with cancer
por: Grilz, Ella, et al.
Publicado: (2019)

Romiplostim in adult patients with newly diagnosed or persistent immune thrombocytopenia (ITP) for up to 1 year and in those with chronic ITP for more than 1 year: a subgroup analysis of integrated data from completed romiplostim studies
por: Kuter, David J., et al.
Publicado: (2019)

Phase 3 randomised study of avatrombopag, a novel thrombopoietin receptor agonist for the treatment of chronic immune thrombocytopenia
por: Jurczak, Wojciech, et al.
Publicado: (2018)

Avatrombopag, an oral thrombopoietin receptor agonist: results of two double‐blind, dose‐rising, placebo‐controlled Phase 1 studies
por: Kuter, David J., et al.
Publicado: (2018)

Rosuvastatin use increases plasma fibrinolytic potential: a randomised clinical trial
por: Schol‐Gelok, Suzanne, et al.
Publicado: (2020)

Fostamatinib is an effective second‐line therapy in patients with immune thrombocytopenia
por: Boccia, Ralph, et al.
Publicado: (2020)

Product type and the risk of inhibitor development in nonsevere haemophilia A patients: a case‒control study
por: van Velzen, Alice S., et al.
Publicado: (2020)

The joint effect of genetic risk factors and different types of combined oral contraceptives on venous thrombosis risk
por: Khialani, Deeksha, et al.
Publicado: (2020)

Treatment efficacy for adult persistent immune thrombocytopenia: a systematic review and network meta‐analysis
por: Puavilai, Teeraya, et al.
Publicado: (2019)

The association between haemorrhage and markers of endothelial insufficiency and inflammation in patients with hypoproliferative thrombocytopenia: a cohort study
por: Ypma, Paula F., et al.
Publicado: (2019)

Fusion of engineered albumin with factor IX Padua extends half‐life and improves coagulant activity
por: Lombardi, Silvia, et al.
Publicado: (2021)

Risk of recurrent venous thromboembolism in patients with autoimmune diseases: data from the Registro Informatizado de Enfermedad TromboEmbólica (RIETE) registry
por: Borjas Howard, Jaime, et al.
Publicado: (2021)

A universal anti‐Xa assay for rivaroxaban, apixaban, and edoxaban measurements: method validation, diagnostic accuracy and external validation
por: Willekens, Guido, et al.
Publicado: (2021)

Glucocorticoid use and risk of first and recurrent venous thromboembolism: self‐controlled case‐series and cohort study
por: Orsi, Fernanda A., et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_ij6gne4khb2ce8purfqctih845