| Functional, biochemical, molecular and clinical characterization of antithrombin c.1157T>C (p.Ile386Thr), a recurrent Polish variant with a founder effect. | Functional, biochemical, molecular and clinical characterization of antithrombin c.1157T>C (p.Ile386Thr), a recurrent Polish variant with a founder effect.
Weronska A, De la Morena-Barrio B, Goldman-Mazur S, De la Morena-Barrio ME, Padilla J, Miñano A, Garrido P, Treliński J, Potaczek DP, Szczepanek A, Undas A, Corral J, Wypasek E., Free PMC Article | 03/22/2024 |
| A novel mutation p.Met1Val in SERPINC1 gene causes hereditary antithrombin deficiency in a Chinese family with thrombotic disease. | A novel mutation p.Met1Val in SERPINC1 gene causes hereditary antithrombin deficiency in a Chinese family with thrombotic disease.
Zeng M, Jia K, Liu M, Wang M, Yang L, Xie H. | 03/14/2024 |
| [Phenotypic and genetic analysis of a Chinese pedigree affected with Hereditary antithrombin deficiency due to a novel variant of SERPINC1 gene]. | [Phenotypic and genetic analysis of a Chinese pedigree affected with Hereditary antithrombin deficiency due to a novel variant of SERPINC1 gene].
Chen Y, Yao Y, Li T, Shu K, Yang X, Li S, Wang X, Wang J, Zhang T, Jiang M. | 03/11/2024 |
| Clinical and functional characterization of rare compound heterozygous mutations in the SERPINC1 gene causing severe thrombophilia. | Clinical and functional characterization of rare compound heterozygous mutations in the SERPINC1 gene causing severe thrombophilia.
Zhang K, Zhang H, Yu D, Pan J, Wang M, Xie H. | 02/5/2024 |
| Antithrombin Deficiency Is Associated with Prothrombotic Plasma Fibrin Clot Phenotype. | Antithrombin Deficiency Is Associated with Prothrombotic Plasma Fibrin Clot Phenotype.
Natorska J, Corral J, de la Morena-Barrio ME, Bravo-Pérez C, Bagoly Z, Bereczky Z, Treliński J, Witkowski M, Klajmon A, Undas A, Ząbczyk M., Free PMC Article | 08/30/2023 |
| Antithrombin Deficiency: Frequency in Patients with Thrombosis and Thrombophilic Families. | Antithrombin Deficiency: Frequency in Patients with Thrombosis and Thrombophilic Families.
Pejková MA, Ivanová E, Sadílek P, Malý R, Thibaud Z, Dulíček P. | 07/5/2023 |
| Identification and functional analysis of three novel genetic variants resulting in premature termination codons in three unrelated patients with hereditary antithrombin deficiency. | Identification and functional analysis of three novel genetic variants resulting in premature termination codons in three unrelated patients with hereditary antithrombin deficiency.
Imai Y, Nagaya S, Araiso Y, Meguro-Horike M, Togashi T, Ohmori K, Makita Y, Sato E, Yujiri T, Nagamori Y, Horike SI, Watanabe A, Morishita E. | 04/4/2023 |
| Native and activated antithrombin inhibits TMPRSS2 activity and SARS-CoV-2 infection. | Native and activated antithrombin inhibits TMPRSS2 activity and SARS-CoV-2 infection.
Wettstein L, Immenschuh P, Weil T, Conzelmann C, Almeida-Hernández Y, Hoffmann M, Kempf A, Nehlmeier I, Lotke R, Petersen M, Stenger S, Kirchhoff F, Sauter D, Pöhlmann S, Sanchez-Garcia E, Münch J., Free PMC Article | 01/28/2023 |
| [Case report of pulmonary embolism after balloon pulmonary angioplasty triggered by decreased antithrombin activity in a patient with chronic thromboembolic disease]. | [Case report of pulmonary embolism after balloon pulmonary angioplasty triggered by decreased antithrombin Ⅲ activity in a patient with chronic thromboembolic disease].
Guo WL, Chen HM, Wu XF, Lin JL, Hong C. | 01/28/2023 |
| Two SERPINC1 variants affecting N-glycosylation of Asn224 cause severe thrombophilia not detected by functional assays. | Two SERPINC1 variants affecting N-glycosylation of Asn224 cause severe thrombophilia not detected by functional assays.
de la Morena-Barrio ME, Suchon P, Jacobsen EM, Iversen N, Miñano A, de la Morena-Barrio B, Bravo-Pérez C, Padilla J, Cifuentes R, Asenjo S, Deleuze JF, Trégouët DA, Lozano ML, Vicente V, Sandset PM, Morange PE, Corral J., Free PMC Article | 07/23/2022 |
| Novel Mutation p.Asp374Val of SERPINC1 in a Turkish Family with Inherited Antithrombin Deficiency | Novel Mutation p.Asp374Val of SERPINC1 in a Turkish Family with Inherited Antithrombin Deficiency.
Aslan D., Free PMC Article | 04/2/2022 |
| New SERPINC1 gene mutations in patients with antithrombin deficiency: antithrombin Lodz I, II, III, and IV. | New SERPINC1 gene mutations in patients with antithrombin deficiency: antithrombin Lodz I, II, III, and IV.
Nowak W, Treliński J, Wypasek E, de la Morena-Barrio B, de la Morena-Barrio ME, Corral J. | 03/12/2022 |
| Modulation of HIV Replication in Monocyte-Derived Macrophages (MDM) by Host Antiviral Factors Secretory Leukocyte Protease Inhibitor and Serpin Family C Member 1 Induced by Steroid Hormones. | Modulation of HIV Replication in Monocyte-Derived Macrophages (MDM) by Host Antiviral Factors Secretory Leukocyte Protease Inhibitor and Serpin Family C Member 1 Induced by Steroid Hormones.
Biswas S, Chen E, Gao Y, Lee S, Hewlett I, Devadas K., Free PMC Article | 02/26/2022 |
| Downregulation of microRNA-200c-3p alleviates the aggravation of venous thromboembolism by targeting serpin family C member 1. | Downregulation of microRNA-200c-3p alleviates the aggravation of venous thromboembolism by targeting serpin family C member 1.
Jian X, Yang D, Wang L, Wang H., Free PMC Article | 02/19/2022 |
| Extracellular Histones Bind Vascular Glycosaminoglycans and Inhibit the Anti-Inflammatory Function of Antithrombin. | Extracellular Histones Bind Vascular Glycosaminoglycans and Inhibit the Anti-Inflammatory Function of Antithrombin.
Biswas I, Panicker SR, Cai XS, Giri H, Rezaie AR., Free PMC Article | 01/15/2022 |
| Cerebral venous sinus thrombosis in child with antithrombin deficiency and novel SERPINC1 variant. | Cerebral venous sinus thrombosis in child with antithrombin deficiency and novel SERPINC1 variant.
Yokota H, Miyazaki M, Kinjo C, Kogaki S, Iida JI. | 01/1/2022 |
| Cis-Segregation of c.1171C>T Stop Codon (p.R391*) in SERPINC1 Gene and c.1691G>A Transition (p.R506Q) in F5 Gene and Selected GWAS Multilocus Approach in Inherited Thrombophilia. | Cis-Segregation of c.1171C>T Stop Codon (p.R391*) in SERPINC1 Gene and c.1691G>A Transition (p.R506Q) in F5 Gene and Selected GWAS Multilocus Approach in Inherited Thrombophilia.
Gemmati D, Longo G, Franchini E, Araujo Silva J, Gallo I, Lunghi B, Moratelli S, Maestri I, Serino ML, Tisato V., Free PMC Article | 12/4/2021 |
| High penetrance of inferior vena cava system atresia in severe thrombophilia caused by homozygous antithrombin Budapest 3 variant: Description of a new syndrome. | High penetrance of inferior vena cava system atresia in severe thrombophilia caused by homozygous antithrombin Budapest 3 variant: Description of a new syndrome.
de la Morena-Barrio ME, Gindele R, Bravo-Pérez C, Ilonczai P, Zuazu I, Speker M, Oláh Z, Rodríguez-Sevilla JJ, Entrena L, Infante MS, de la Morena-Barrio B, García JM, Schlammadinger Á, Cifuentes-Riquelme R, Mora-Casado A, Miñano A, Padilla J, Vicente V, Corral J, Bereczky Z. | 11/22/2021 |
| A prediction model of sepsis-associated acute kidney injury based on antithrombin III. | A prediction model of sepsis-associated acute kidney injury based on antithrombin III.
Xie Y, Zhang Y, Tian R, Jin W, Du J, Zhou Z, Wang R. | 10/23/2021 |
| Antithrombin p.Thr147Ala: The First Founder Mutation in People of African Origin Responsible for Inherited Antithrombin Deficiency. | Antithrombin p.Thr147Ala: The First Founder Mutation in People of African Origin Responsible for Inherited Antithrombin Deficiency.
Orlando C, de la Morena-Barrio B, Pareyn I, Vanhoorelbeke K, Martínez-Martínez I, Vicente V, Corral J, Jochmans K, de la Morena-Barrio ME. | 10/9/2021 |
| N-Glycosylation as a Tool to Study Antithrombin Secretion, Conformation, and Function. | N-Glycosylation as a Tool to Study Antithrombin Secretion, Conformation, and Function.
Águila S, Noto R, Luengo-Gil G, Espín S, Bohdan N, de la Morena-Barrio ME, Peñas J, Rodenas MC, Vicente V, Corral J, Manno M, Martínez-Martínez I., Free PMC Article | 09/18/2021 |
| Seventeen novel SERPINC1 variants causing hereditary antithrombin deficiency in a Czech population. | Seventeen novel SERPINC1 variants causing hereditary antithrombin deficiency in a Czech population.
Provazníková D, Matýšková M, Čápová I, Grančarová D, Drbohlavová E, Šlechtová M, Hrachovinová I. | 06/26/2021 |
| Genotype-phenotype gradient of SERPINC1 variants in a single family reveals a severe compound antithrombin deficiency in a dead embryo. | Genotype-phenotype gradient of SERPINC1 variants in a single family reveals a severe compound antithrombin deficiency in a dead embryo.
Bravo-Pérez C, de la Morena-Barrio ME, Palomo A, Entrena L, de la Morena-Barrio B, Padilla J, Miñano A, Navarro E, Cifuentes R, Corral J, Vicente V. | 03/20/2021 |
| Understanding the andromeda strain - The role of cytokine release, coagulopathy and antithrombin III in SARS-CoV2 critical illness. | Understanding the andromeda strain - The role of cytokine release, coagulopathy and antithrombin III in SARS-CoV2 critical illness.
Mir N, D'Amico A, Dasher J, Tolwani A, Valentine V., Free PMC Article | 02/20/2021 |
| Novel SERPINC1 missense mutation (Cys462Tyr) causes disruption of the 279Cys-462Cys disulfide bond and leads to type hereditary antithrombin deficiency. | Novel SERPINC1 missense mutation (Cys462Tyr) causes disruption of the 279Cys-462Cys disulfide bond and leads to type Ⅰ hereditary antithrombin deficiency.
Zhang F, Gui Y, Lu Y, Liu D, Chen H, Qin X, Li S. | 02/6/2021 |