Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Novel insights into inherited protein C deficiency from an interactive PROC variant database.

Journal of thrombosis and haemostasis : JTH - 1 Nov 2025

Zhang Shujuan, Dong Shixia, Hou Zepeng, Liu Shaobo, Lyu Cheng, Zhou Hong, Ai Li-Jiezhuo, Guo Yiming, Dong Yanyan, Zhao Meng, Li Tianhao, Jiang Bo, Zhai Tianyu, Pan Jiahui, Wang Wei, Hao Dapeng, Shen Guomin

Abstract excerpt

BACKGROUND: Hundreds of PROC variants have been identified that cause inherited PROC deficiency (PCD), which increases the risk of thrombosis and other complications, however, it is not well studied for inherited PCD globally. OBJECTIVES: To build an interactive PROC variant database for conveniently communicating, and to systematically study the epidemiology, genotype-phenotype relationships, and pathogenesis of...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Age of Onset
Share to Blood Coagulation

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Databases, Genetic

Share to Prevalence

Share to Protein C

Share to Protein C Deficiency

Share to Risk Assessment

Share to Thrombosis

Source

Identifiers

PMID: 40803570
DOI: 10.1016/j.jtha.2025.07.030

Genes

PROC

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 17 Oct 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Novel insights into inherited protein C deficiency from an interactive PROC variant database.PMID 40803570Read ↗

An interactive human PROS1 variants database provides novel insights into the genetics and phenotypes of inherited protein S deficiency.Semantic proximity Read ↗

Analysis of four hereditary protein C deficiencies associated with vascular thromboembolism.Semantic proximity Read ↗

Analysis of Four Hereditary Protein C Deficiencies Associated with Vascular ThromboembolismSemantic proximity Read ↗

Analysis of PROC mutations and clinical features in 22 unrelated families with inherited protein C deficiency.Semantic proximity Read ↗

A Series of 14 Polish Patients with Thrombotic Events and PC Deficiency-Novel c.401-1G>A PROC Gene Splice Site Mutation in a Patient with AneurysmsSemantic proximity Read ↗

[Genetic and Clinical Characteristics of A Family with Combined PROC and PROS1 Genetic Variants].Semantic proximity Read ↗

Two novel compound heterozygous mutations associated with types I and II protein C deficiency with unusual phenotypes.Semantic proximity Read ↗

Severe Protein C Deficiency due to Novel Biallelic Variants in PROC and Their Phenotype Correlation.Semantic proximity Read ↗

Compound heterozygous protein C deficiency with pulmonary embolism caused by a novel PROC gene mutation: Case report and literature review.Semantic proximity Read ↗

Two heterozygous mutations associated with type I protein C deficiency in two Chinese independent families.Semantic proximity Read ↗

Analysis of the Phenotype and Gene Mutations of Two Families With Combined Mutations of Anticoagulant Protein Genes.Semantic proximity Read ↗

[Clinical and genetic analysis of a rare fetus with Protein C deficiency due to compound heterozygous variants of PROC gene].Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.