Abstract
Antithrombin is a key endogenous anticoagulant whose deficiency constitutes a strong risk factor for thrombosis. The study of antithrombin deficiency has generated excellent, and in some cases, surprising results that may be extrapolated to other thrombophilia and genetic disorders. Routine diagnosis of antithrombin deficiency is based on functional assays. Few specialized laboratories also perform genetic analysis, even though nowadays it is a simple, fast and cheap process that generates relevant information with clinical usefulness. Molecular analysis of SERPINC1, the gene encoding antithrombin, has been restricted so far to cases with confirmed or familial antithrombin deficiency. However, some pathogenic mutations are not detected by current functional methods and other gene defects may have functional consequences only observed under specific conditions. Thus, molecular analysis may be the best method to identify antithrombin deficiency. Up to 80% of patients with antithrombin deficiency have SERPINC1 gene defects, mostly (90% of the 315 gene defects described so far) point mutations or small deletions or insertions affecting the 7 exons or flanking regions. The description of new SERPINC1 gene defects may reveal new resi...Continue Reading
Citations
Jan 12, 2019·PloS One·Mattia LaffranchiAnnamaria Fra
May 23, 2019·Expert Review of Hematology·Carlos Bravo-PérezJavier Corral
May 31, 2019·Bioscience Reports·Irene Martínez-Martínez
Jul 21, 2020·British Journal of Haematology·C Bravo-PérezV Vicente
Sep 25, 2019·Nature Microbiology·Praveen PapareddyHeiko Herwald
Nov 7, 2019·Journal of Biomolecular Structure & Dynamics·Gábor BaloghZsuzsanna Bereczky
Mar 25, 2019·British Journal of Haematology·Roger J S PrestonJames S O'Donnell
Apr 4, 2019·British Journal of Haematology·Belén De la Morena-BarrioVicente Vicente
Jan 29, 2020·Blood Coagulation & Fibrinolysis : an International Journal in Haemostasis and Thrombosis·Xin-Yi TengZhen-Jie Liu
Oct 31, 2019·The Journal of Biological Chemistry·Benjamin M AdamsDaniel N Hebert
Nov 19, 2019·Pediatric Blood & Cancer·Rida HasanAyesha Zia
Dec 31, 2019·Liver International : Official Journal of the International Association for the Study of the Liver·Anna BaigesJuan Carlos García-Pagán
Jan 5, 2021·Acta neurologica Belgica·Hiroshi YokotaJun- Ichi Iida
Nov 17, 2020·Blood Coagulation & Fibrinolysis : an International Journal in Haemostasis and Thrombosis·Siqi LiuMingshan Wang
Aug 18, 2020·The Journal of Surgical Research·John D EhrhardtAdel Elkbuli
Mar 11, 2020·Thrombosis Research·Dana ProvazníkováIngrid Hrachovinová
Feb 23, 2021·Frontiers in Cardiovascular Medicine·Zsuzsanna BereczkyRóza Ádány
Dec 2, 2020·Drug Discovery Today·Tahsin F KelliciMichael J Bodkin
Apr 19, 2021·Thrombosis Research·Adalgisa CondoluciBernhard Gerber
Feb 6, 2019·Thrombosis Research·Alisa D KjaergaardPeter H Nissen
May 26, 2021·Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology·An-Sofie VandeputConstantinus Politis
Jun 26, 2021·The Journal of Obstetrics and Gynaecology Research·Takao KobayashiToshiyuki Miyata
Jul 3, 2021·Genes·Donato GemmatiVeronica Tisato
Jul 30, 2021·American Journal of Hematology·María E de la Morena-BarrioZsuzsanna Bereczky
Oct 16, 2021·Journal of Thrombosis and Haemostasis : JTH·Mirjam KruijtL Renee Ruhaak
Nov 13, 2021·Frontiers in Cardiovascular Medicine·Shewaye Fituma NataeSzilvia Fiatal
Nov 21, 2021·American Journal of Hematology·Carlos Bravo-PérezJavier Corral
Dec 24, 2021·Thrombosis Journal·M Müller-KnappJ Ehler