Varaico: Literature-Extracted Genetic Variants

Gene:THBD
Variant:p.P495S
Back to variants list

THBD

NM_000361.3:p.P495S

Associated Papers

Thrombotic Microangiopathy After Kidney Transplantation: Insights Into Genetic Etiology and Clinical Outcomes.

Merzkani M et al.

Kidney International Reports, 2025

40303217 (PubMed )
Supplement: mmc1.pdf

Inborn errors of immunity with kidney and urinary tract disorders: a review.

Shajari A et al.

International Urology and Nephrology, 2024

On the relevance of thrombomodulin variants in atypical hemolytic uremic syndrome.

Huerta A et al.

Kidney International, 2023

Thrombomodulin (THBD) gene variants and thrombotic risk in a population-based cohort study.

Manderstedt E et al.

Journal of Thrombosis and Haemostasis : Jth, 2022

Whole genome deep sequencing analysis of cell-free DNA in samples with low tumour content.

Ganesamoorthy D et al.

Bmc Cancer, 2022

35057759 (PubMed )
Supplement: 12885_2021_9160_MOESM1_ESM.xlsx › 1084_T0

Thrombomodulin gene polymorphism and the occurrence and prognostic value of sepsis acute kidney injury.

Li Q et al.

Medicine, 2021

Complement Gene Variants and Shiga Toxin-Producing Escherichia coli-Associated Hemolytic Uremic Syndrome: Retrospective Genetic and Clinical Study.

Frémeaux-Bacchi V et al.

Clinical Journal of the American Society of Nephrology : Cjasn, 2019

Routine use of clinical exome-based next-generation sequencing for evaluation of patients with thrombotic microangiopathies.

Gaut JP et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2017

Massively parallel sequencing and targeted exomes in familial kidney disease can diagnose underlying genetic disorders.

Mallett AJ et al.

Kidney International, 2017

Post-transplant recurrence of atypical hemolytic uremic syndrome in a patient with thrombomodulin mutation.

Sinibaldi S et al.

Pediatric Transplantation, 2013

Thrombomodulin mutations in atypical hemolytic-uremic syndrome.

Delvaeye M et al.

The New England Journal of Medicine, 2009

Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Ryu GM et al.

Nucleic Acids Research, 2009

19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File011.xls › TypeI_

Naturally occurring mutations in the thrombomodulin gene leading to impaired expression and function.

Kunz G et al.

Blood, 2002

Thrombomodulin promoter mutations, venous thrombosis, and varicose veins.

Le Flem L et al.

Arteriosclerosis, Thrombosis, and Vascular Biology, 2001

A novel mutation in complement 2 accompanied by susceptibility variants in C3 glomerulonephritis: A case study.

Han SS et al.

Nefrologia, 0

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."