Associated Papers
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
Development of a MassARRAY Genotyping Platform and Its Clinical Application for Venous Thromboembolism Risk Assessment in Thai Patients.
Apipongrat D et al.
Medical Sciences (basel, Switzerland), 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
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
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
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
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
[Clinical characteristics and gene mutation analysis of two families with hereditary protein C deficiency].
Zeng ML et al.
Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi, 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
Case report: Severe nonketotic hyperglycinemia in a neonate without apparent seizures but concomitant cleft palate and cerebral sinovenous thrombosis.
Thewamit R et al.
Frontiers in Pediatrics, 2023
Hereditary protein C deficiency with portal vein thrombosis in a Chinese male: A case report.
Zou C et al.
Experimental and Therapeutic Medicine, 2022
Shariant platform: Enabling evidence sharing across Australian clinical genetic-testing laboratories to support variant interpretation.
Tudini E et al.
American Journal of Human Genetics, 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
[Clinical manifestations and gene analysis of 18 cases of hereditary protein S deficiency].
Zhang DL 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
Identification of Alpha Thalassemia, RNF213 p.R4810K and PROC p.R189W among Children with Moyamoya Disease/Syndrome.
Thampratankul L et al.
Mediterranean Journal of Hematology and Infectious Diseases, 2022
Report on effective treatment and genetic predisposition in two children with refractory probable catastrophic antiphospholipid syndrome.
Pongphitcha P et al.
Thrombosis Research, 2021
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
Genotype-Phenotype Relationships in a Large French Cohort of Subjects with Inherited Protein C Deficiency.
Alhenc-Gelas M et al.
Thrombosis and Haemostasis, 2020
Burden of rare exome sequence variants in PROC gene is associated with venous thromboembolism: a population-based study.
Tang W et al.
Journal of Thrombosis and Haemostasis : Jth, 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
Natural anticoagulant deficiencies in Thais: A population-based study.
Rojnuckarin P et al.
Thrombosis Research, 2019
Loss-of-function mutations in QRICH2 cause male infertility with multiple morphological abnormalities of the sperm flagella.
Shen Y et al.
Nature Communications, 2019
Recurrent cerebellar infarction associated with hereditary heterozygous protein C deficiency in a 35-year-old woman: A case report and genetic study on the pedigree.
Li P et al.
Experimental and Therapeutic 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
[Analysis of phenotypes and genetic mutations in two pedigrees affected with hereditary protein C deficiency].
Yang L et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 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
Analysis of the genetic variants associated with recurrent thromboembolism in a patient with hemoglobin H disease following splenectomy: A case report.
Sun NA et al.
Biomedical Reports, 2016
Common genetic risk factors of venous thromboembolism in Western and Asian populations.
Huang SS et al.
Genetics and Molecular Research : Gmr, 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
Deficiency of antithrombin and protein C gene in 202 Chinese venous thromboembolism patients.
Gu Y et al.
International Journal of Laboratory Hematology, 2014
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
PROC c.574_576del polymorphism: a common genetic risk factor for venous thrombosis in the Chinese population.
Tang L et al.
Journal of Thrombosis and Haemostasis : Jth, 2012
[A survey of 20 inherited protein C deficiencies in the patients with venous thromboembolism].
Shen W et al.
Zhonghua Yi Xue Za Zhi, 2012
Genetic background analysis of protein C deficiency demonstrates a recurrent mutation associated with venous thrombosis in Chinese population.
Tang L et al.
Plos One, 2012
PROC Promoter Single Nucleotide Polymorphisms Associated With Low Protein C Activity But Not Increased Risk of Thromboembolism in Pediatric Population.
Udomkittivorakul N et al.
Clinical and Applied Thrombosis/hemostasis : Official Journal of the International Academy of Clinical and Applied Thrombosis/hemostasis, 0
Cryptogenic Stroke in the Young: Role of Candidate Gene Polymorphisms in Indian Patients with Ischemic Etiology.
Salomi BSB et al.
Neurology India, 0