Associated Papers
Clinical Phenotype and Genetic Analysis of a Family with Hereditary Antithrombin Deficiency Caused by SERPINC1 Gene Mutation.
Zhao Y et al.
Thrombosis and Haemostasis, 2026
A pedigree analysis of deep venous thrombosis caused by rare compound heterozygous PROC mutations combined with a heterozygous THBD mutation.
Tuo R et al.
Thrombosis Journal, 2025
Novel insights into inherited protein C deficiency from an interactive PROC variant database.
Zhang S et al.
Journal of Thrombosis and Haemostasis : Jth, 2025
A comprehensive study of antithrombin deficiency in a large cohort of Chinese thrombophilia pedigrees: uncovering 4 SERPINC1 pathogenic variants merely impaired progressive activities.
Chen C et al.
Journal of Thrombosis and Haemostasis : Jth, 2025
Application of multigene panel testing for bleeding, thrombotic, and platelet disorders in patients and the general population in China.
Cai Y et al.
Molecular Biomedicine, 2025
Unraveling the Molecular Pathogenesis of Protein C Deficiency-Associated VTE: Insights from Protein C Mutations C238G and R189W in Thai Patients.
Tanratana P et al.
Thrombosis and Haemostasis, 2025
Successful Pregnancy Outcome in a Patient with Recurrent Miscarriage Due to PCOS Complicated by Hereditary Protein C Deficiency.
Qiu L et al.
International Journal of Women's Health, 2025
[Advances in the genetics of venous thromboembolic disease].
Xia YQ et al.
Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi, 2024
Thrombophilia Screening: Not So Straightforward.
Moore GW
Seminars in Thrombosis and Hemostasis, 2024
The genetic risk factors for cerebral venous thrombosis: a case-control study in a Chinese national comprehensive hospital.
Wang S et al.
Thrombosis Journal, 2024
Successful ECMO treatment in patients with cerebral hemorrhage and PROC gene mutation associated with VTE: a case report.
Wang L et al.
Thrombosis Journal, 2024
Analysis of PROC mutations and clinical features in 22 unrelated families with inherited protein C deficiency.
Xu F et al.
Annals of Hematology, 2024
The effects of pathogenic and likely pathogenic variants for inherited hemostasis disorders in 140 214 UK Biobank participants.
Stefanucci L et al.
Blood, 2023
A case of Hereditary diffuse leukoencephalopathy with spherical axons in a patient with mental disorders as the initial symptom.
Ding H et al.
Asian Journal of Surgery, 2023
Whole exome sequencing reveal 83 novel Mendelian disorders carrier P/LP variants in Chinese adult patients.
Zhang L et al.
Journal of Human Genetics, 2023
Evaluation of prothrombotic risk of two PROC hotspot mutations (Arg189Trp and Lys193del) in Chinese population: a retrospective study.
Li L et al.
Thrombosis Journal, 2023
Screening for thrombophilia in patients with thromboangitis obliterans using whole-exome sequencing.
Chen F et al.
Thrombosis Research, 2023
A case of polycystic ovary syndrome with inevitable miscarriage and multi-site venous thrombosis caused by hereditary protein C deficiency.
Zhong M et al.
Gynecological Endocrinology : the Official Journal of the International Society of Gynecological Endocrinology, 2022
[Analysis of PROC gene variant in a Chinese pedigree affected with hereditary protein C deficiency].
Chen Y et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2022
Compound heterozygous protein C deficiency with pulmonary embolism caused by a novel PROC gene mutation: Case report and literature review.
Zhang Z et al.
Medicine, 2022
Monogenic basis of young-onset cryptogenic stroke: a multicenter study.
Yuan WZ et al.
Annals of Translational Medicine, 2022
Clinical and genetic features of Chinese pediatric patients with severe congenital protein C deficiency who first presented with purpura fulminans: A case series study and literature review.
Tang X et al.
Thrombosis Research, 2022
[Clinical phenotype and gene mutation analysis of 12 patients with hereditary protein C deficiency in different families].
Xu QY et al.
Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi, 2022
Case Report: A Novel Mutation Identified in CHST14 Gene in a Fetus With Structural Abnormalities.
Zhou YY et al.
Frontiers in Genetics, 2022
Recurrent PROC and novel PROS1 mutations in Vietnamese patients diagnosed with idiopathic deep venous thrombosis.
Do MD et al.
International Journal of Laboratory Hematology, 2021
Carrier frequencies of antithrombin, protein C, and protein S deficiency variants estimated using a public database and expression experiments.
Maruyama K et al.
Research and Practice in Thrombosis and Haemostasis, 2021
Value of Exome Sequencing in Diagnosis and Management of Recurrent Non-immune Hydrops Fetalis: A Retrospective Analysis.
Zhou X et al.
Frontiers in Genetics, 2021
Racial differences in protein S Tokushima and two protein C variants as genetic risk factors for venous thromboembolism.
Tsuda H et al.
Research and Practice in Thrombosis and Haemostasis, 2020
An Embolic Stroke in a Patient With PROC p.Lys193del.
Ueki K et al.
Journal of Stroke and Cerebrovascular Diseases : the Official Journal of National Stroke Association, 2020
Plasma phenotypes of protein S Lys196Glu and protein C Lys193del variants prevalent among young Japanese women.
Noguchi K et al.
Blood Coagulation & Fibrinolysis : an International Journal in Haemostasis and Thrombosis, 2019
Pathogenic variants of PROC gene caused type I activity deficiency in a familial Chinese venous thrombosis.
Yue Y et al.
Journal of Cellular and Molecular Medicine, 2019
Clinical Manifestation and Mutation Spectrum of 53 Unrelated Pedigrees with Protein S Deficiency in China.
Li L et al.
Thrombosis and Haemostasis, 2019
Diagnostic challenge of the newborn patients with heritable protein C deficiency.
Ichiyama M et al.
Journal of Perinatology : Official Journal of the California Perinatal Association, 2019
Qualitative protein C deficiency due to PROC c.577_579delAAG mutation not detected by chromogenic assays: A case of intractable cerebral sinovenous thrombosis.
Wang V et al.
Pediatric Blood & Cancer, 2019
Genotypic and phenotypic character of Chinese neonates with congenital protein C deficiency: a case report and literature review.
Li X et al.
Thrombosis Journal, 2019
Antithrombin deficiency and decreased protein C activity in a young man with venous thromboembolism: a case report.
Wang D et al.
Frontiers of Medicine, 2018
Recurrent mutations in a SERPINC1 hotspot associate with venous thrombosis without apparent antithrombin deficiency.
Zeng W et al.
Oncotarget, 2017
The clinical presentation and genotype of protein C deficiency with double mutations of the protein C gene.
Inoue H et al.
Pediatric Blood & Cancer, 2017
Two novel compound heterozygous mutations associated with types I and II protein C deficiency with unusual phenotypes.
Deng MY et al.
Thrombosis Research, 2016
Common genetic risk factors of venous thromboembolism in Western and Asian populations.
Huang SS et al.
Genetics and Molecular Research : Gmr, 2016
Fetal hydrocephalus and neonatal stroke as the first presentation of protein C deficiency.
Ichiyama M et al.
Brain & Development, 2016
Genetic association of PROC variants with pulmonary embolism in Northern Chinese Han population.
Wang Z et al.
Springerplus, 2016
Compound heterozygous protein C deficiency in a family with venous thrombosis: Identification and in vitro study of p.Asp297His and p.Val420Leu mutations.
Liu H et al.
Gene, 2015
Progress in research into the genes associated with venous thromboembolism.
Zhao LX et al.
World Journal of Emergency Medicine, 2015
Distinct frequencies and mutation spectrums of genetic thrombophilia in Korea in comparison with other Asian countries both in patients with thromboembolism and in the general population.
Kim HJ et al.
Haematologica, 2014
Dysfunction of protein C anticoagulant system, main genetic risk factor for venous thromboembolism in northeast Asians.
Yin T et al.
Journal of Thrombosis and Thrombolysis, 2014
Common genetic risk factors for venous thrombosis in the Chinese population.
Tang L et al.
American Journal of Human Genetics, 2013
Novel association of a PROC variant with ischemic stroke in a Chinese Han population.
Lu X et al.
Human Genetics, 2013