Cargando…

Long-Read Sequencing Identifies the First Retrotransposon Insertion and Resolves Structural Variants Causing Antithrombin Deficiency

The identification of inherited antithrombin deficiency (ATD) is critical to prevent potentially life-threatening thrombotic events. Causal variants in SERPINC1 are identified for up to 70% of cases, the majority being single-nucleotide variants and indels. The detection and characterization of stru...

Descripción completa

Detalles Bibliográficos
Autores principales:	de la Morena-Barrio, Belén, Stephens, Jonathan, de la Morena-Barrio, María Eugenia, Stefanucci, Luca, Padilla, José, Miñano, Antonia, Gleadall, Nicholas, García, Juan Luis, López-Fernández, María Fernanda, Morange, Pierre-Emmanuel, Puurunen, Marja, Undas, Anetta, Vidal, Francisco, Raymond, Frances Lucy, Vicente, Vicente, Ouwehand, Willem H., Corral, Javier, Sanchis-Juan, Alba
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Georg Thieme Verlag KG 2022
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9393088/ https://www.ncbi.nlm.nih.gov/pubmed/35764313 http://dx.doi.org/10.1055/s-0042-1749345

Ejemplares similares

Incidence and features of thrombosis in children with inherited antithrombin deficiency
por: de la Morena-Barrio, Belén, et al.
Publicado: (2019)

Usefulness and Limitations of Multiple Ligation-Dependent Probe Amplification in Antithrombin Deficiency
por: Cifuentes, Rosa, et al.
Publicado: (2023)

Functional, biochemical, molecular and clinical characterization of antithrombin c.1157T>C (p.Ile386Thr), a recurrent Polish variant with a founder effect
por: Weronska, Anna, et al.
Publicado: (2023)

Antithrombin Deficiency Is Associated with Prothrombotic Plasma Fibrin Clot Phenotype
por: Natorska, Joanna, et al.
Publicado: (2023)

Identification of Regulatory Mutations in SERPINC1 Affecting Vitamin D Response Elements Associated with Antithrombin Deficiency
por: Toderici, Mara, et al.
Publicado: (2016)

Defects of splicing in antithrombin deficiency
por: de la Morena‐Barrio, María E., et al.
Publicado: (2017)

Correction: Identification of Regulatory Mutations in SERPINC1 Affecting Vitamin D Response Elements Associated with Antithrombin Deficiency
por: Toderici, Mara, et al.
Publicado: (2016)

Full-length antithrombin frameshift variant with aberrant C-terminus causes endoplasmic reticulum retention with a dominant-negative effect
por: Bravo-Pérez, Carlos, et al.
Publicado: (2022)

Transient desialylation in combination with a novel antithrombin deficiency causing a severe and recurrent thrombosis despite anticoagulation therapy
por: Revilla, Nuria, et al.
Publicado: (2017)

Identification of Antithrombin-Modulating Genes. Role of LARGE, a Gene Encoding a Bifunctional Glycosyltransferase, in the Secretion of Proteins?
por: de la Morena-Barrio, María Eugenia, et al.
Publicado: (2013)

Biochemical and cellular consequences of the antithrombin p.Met1? mutation identified in a severe thrombophilic family
por: Navarro-Fernández, José, et al.
Publicado: (2018)

N-Glycosylation as a Tool to Study Antithrombin Secretion, Conformation, and Function
por: Águila, Sonia, et al.
Publicado: (2021)

ALG12‐CDG: An unusual patient without intellectual disability and facial dysmorphism, and with a novel variant
por: de la Morena‐Barrio, María Eugenia, et al.
Publicado: (2020)

Control of post-translational modifications in antithrombin during murine post-natal development by miR-200a
por: Teruel, Raúl, et al.
Publicado: (2013)

Recurrent mutations in a SERPINC1 hotspot associate with venous thrombosis without apparent antithrombin deficiency
por: Zeng, Wei, et al.
Publicado: (2017)

Correction: Recurrent mutations in a SERPINC1 hotspot associate with venous thrombosis without apparent antithrombin deficiency
por: Zeng, Wei, et al.
Publicado: (2018)

Prognostic value of thrombin generation parameters in hospitalized COVID-19 patients
por: de la Morena-Barrio, María Eugenia, et al.
Publicado: (2021)

Factor XI in Carriers of Antiphospholipid Antibodies: Elevated Levels Associated with Symptomatic Thrombotic Cases, While Low Levels Linked to Asymptomatic Cases
por: Pagán-Escribano, Javier, et al.
Publicado: (2023)

Detection and annotation of transposable element insertions and deletions on the human genome using nanopore sequencing
por: Cuenca-Guardiola, Javier, et al.
Publicado: (2023)

Two SERPINC1 variants affecting N-glycosylation of Asn224 cause severe thrombophilia not detected by functional assays
por: de la Morena-Barrio, Maria Eugenia, et al.
Publicado: (2022)

P1681: FXI LEVELS AS INDEPENDENT RISK FACTOR FOR THROMBOSIS/OBSTETRIC EVENTS IN PATIENTS WITH ANTIPHOSPHOLIPID ANTIBODIES
por: De La Morena-Barrio, M. E., et al.
Publicado: (2022)

Improvement of large copy number variant detection by whole genome nanopore sequencing
por: Cuenca-Guardiola, Javier, et al.
Publicado: (2022)

Commentary on Acquired Factor XI Deficiency during SARS-CoV-2 Infection: Not Only Thrombosis
por: de la Morena-Barrio, Maria E.
Publicado: (2020)

Factor XII in PMM2-CDG patients: role of N-glycosylation in the secretion and function of the first element of the contact pathway
por: López-Gálvez, Raquel, et al.
Publicado: (2020)

Contact pathway in surgical and transcatheter aortic valve replacement
por: de la Morena-Barrio, María Eugenia, et al.
Publicado: (2022)

The FXII c.-4T>C Polymorphism as a Disease Modifier in Patients With Hereditary Angioedema Due to the FXII p.Thr328Lys Variant
por: Corvillo, Fernando, et al.
Publicado: (2020)

Anticoagulant therapy in patients with congenital FXI deficiency
por: Bravo-Pérez, Carlos, et al.
Publicado: (2021)

Antithrombin controls tumor migration, invasion and angiogenesis by inhibition of enteropeptidase
por: Luengo-Gil, Ginés, et al.
Publicado: (2016)

GPI-anchor and GPI-anchored protein expression in PMM2-CDG patients
por: de la Morena-Barrio, Maria E, et al.
Publicado: (2013)

Heparanase Activates Antithrombin through the Binding to Its Heparin Binding Site
por: Bohdan, Nataliya, et al.
Publicado: (2016)

Increased N-Glycosylation Efficiency by Generation of an Aromatic Sequon on N135 of Antithrombin
por: Águila, Sonia, et al.
Publicado: (2014)

P1699: ANTITHROMBIN DEFICIENCY IS ASSOCIATED WITH PROTHROMBOTIC FIBRIN CLOT PHENOTYPE
por: Zabczyk, M., et al.
Publicado: (2022)

Resolving kangaroo phylogeny and overcoming retrotransposon ascertainment bias
por: Dodt, William G., et al.
Publicado: (2017)

A prognostic model to identify short survival expectancy of medical oncology patients at the time of hospital discharge
por: Vicente Conesa, M.A., et al.
Publicado: (2022)

Anti-Tumor Functions of Prelatent Antithrombin on Glioblastoma Multiforme Cells
por: Peñas-Martínez, Julia, et al.
Publicado: (2021)

BEL/Pao retrotransposons in metazoan genomes
por: de la Chaux, Nicole, et al.
Publicado: (2011)

Natural Killer Cell Receptors and Cytotoxic Activity in Phosphomannomutase 2 Deficiency (PMM2-CDG)
por: García-López, Roberto, et al.
Publicado: (2016)

Correction: Natural Killer Cell Receptors and Cytotoxic Activity in Phosphomannomutase 2 Deficiency (PMM2-CDG)
por: García-López, Roberto, et al.
Publicado: (2016)

Neutrophil extracellular traps and von Willebrand factor are allies that negatively influence COVID‐19 outcomes
por: Fernández‐Pérez, María P., et al.
Publicado: (2021)

Practical considerations on non-vitamin K oral anticoagulants in patients with high body weight
por: Undas, Anetta
Publicado: (2016)

Cannot write session to /tmp/vufind_sessions/sess_a9g8i571a5cmh85vdd9jgnrupn