Associated Papers
Congenital hypofibrinogenemia with bleeding risk: mutations in the FGA, FGB, and FGG genes.
Wu Y et al.
Laboratory Medicine, 2026
Dysfibrinogenemia and hypofibrinogenemia - Spectrum of pathogenic variants in Slovak patients.
Jaraskova D et al.
Biomedical Papers of the Medical Faculty of the University Palacky, Olomouc, Czechoslovakia, 2025
Integrating Next-Generation Sequencing Into Routine Molecular Diagnosis of Inherited Coagulation Factor Deficiencies: Real-World Data From Spanish Patients.
Borràs N et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2025
Fibrinogen genotypes and their impact on recurrence of venous thromboembolism and family history: A prospective population-based study.
Memon AA et al.
British Journal of Haematology, 2025
Novel NARS2 variants in a patient with early-onset status epilepticus: case study and literature review.
Yang N et al.
Bmc Pediatrics, 2024
Heterozygosity in factor XIII genes and the manifestation of mild inherited factor XIII deficiency.
Singh S et al.
Journal of Thrombosis and Haemostasis : Jth, 2024
Association of genetic variation in COL11A1 with adolescent idiopathic scoliosis.
Yu H et al.
Elife, 2024
Association of genetic variation in COL11A1 with adolescent idiopathic scoliosis.
Yu H et al.
Biorxiv : the Preprint Server for Biology, 2023
Whole-Exome Sequencing in a Family with an Unexplained Tendency for Venous Thromboembolism: Multicomponent Prediction of Low-Frequency Variant Deleteriousness and of Individual Protein Interaction.
Lunghi B et al.
International Journal of Molecular Sciences, 2023
A Quest to Find the Aetiology of Pulmonary Embolism Beyond the Common: A Case of Dyshypofibrinogenemia Presenting as Pulmonary Embolism.
Siddiqui S et al.
Cureus, 2023
Case report: Two unique nonsense mutations in HTRA1-related cerebral small vessel disease in a Chinese population and literature review.
Chen W et al.
Frontiers in Neurology, 2022
Extension of the Human Fibrinogen Database with Detailed Clinical Information-The αC-Connector Segment.
Sovova Z et al.
International Journal of Molecular Sciences, 2021
Familial Multiple Coagulation Factor Deficiencies (FMCFDs) in a Large Cohort of Patients-A Single-Center Experience in Genetic Diagnosis.
Preisler B et al.
Journal of Clinical Medicine, 2021
Genome-wide pathogenesis interpretation using a heat diffusion-based systems genetics method and implications for gene function annotation.
Quan Y et al.
Molecular Genetics & Genomic Medicine, 2020
Whole-Exome Sequencing Characterized the Landscape of Somatic Mutations and Pathways in Colorectal Cancer Liver Metastasis.
Feng L et al.
Journal of Oncology, 2019
Whole exome sequencing in three families segregating a pediatric case of sarcoidosis.
Calender A et al.
Bmc Medical Genomics, 2018
Renal oncocytoma characterized by the defective complex I of the respiratory chain boosts the synthesis of the ROS scavenger glutathione.
Kürschner G et al.
Oncotarget, 2017
Novel FGB mutation Bβ240Cys→Arg confirms importance of the Bβ211-240 disulphide for plasma expression of fibrinogen.
Brennan SO et al.
Thrombosis Research, 2016
Influences on plasminogen activator inhibitor-2 polymorphism-associated recurrent cardiovascular disease risk in patients with high HDL cholesterol and inflammation.
Corsetti JP et al.
Atherosclerosis, 2016
[Clinical and genetic analysis of 8 Chinese pedigrees with inherited dysfibrinogenemia].
Jiang M et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2014
The natural occurrence of human fibrinogen variants disrupting inter-chain disulfide bonds (A{alpha}Cys36Gly, A{alpha}Cys36Arg and A{alpha}Cys45Tyr) confirms the role of N-terminal A{alpha} disulfide bonds in protein assembly and secretion.
Hanss M et al.
Haematologica, 2011
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009