Varaico: Literature-Extracted Genetic Variants

Gene:C3
Variant:p.D1115N
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C3

NM_000064.4:p.D1115N

Associated Papers

C3 p.Asp1115Asn Variant-associated Atypical Hemolytic Uremic Syndrome with Spontaneous Remission Triggered by Influenza and COVID-19.

Fujino Y et al.

Internal Medicine (tokyo, Japan), 2025

The membrane attack complex drives thrombotic microangiopathy in complement mediated atypical hemolytic uremic syndrome.

Smith-Jackson K et al.

Kidney International, 2025

Late Onset Thrombotic Microangiopathy in Kidney Transplants; Poor Outcome Despite Eculizumab Treatment.

Glover EK et al.

Transplant International : Official Journal of the European Society for Organ Transplantation, 2025

41368132 (PubMed )
Supplement: Table1.xlsx › Data

Atypical hemolytic uremic syndrome in the era of terminal complement inhibition: an observational cohort study.

Brocklebank V et al.

Blood, 2023

37369098 (PubMed )
Supplement: BLOOD_BLD-2022-018833R2-mmc1.pdf

Genetic variability shapes the alternative pathway complement activity and predisposition to complement-related diseases.

Rodríguez de Córdoba S

Immunological Reviews, 2023

Risk of Atypical HUS Among Family Members of Patients Carrying Complement Regulatory Gene Abnormality.

Ardissino G et al.

Kidney International Reports, 2021

34169201 (PubMed )
Supplement: mmc1.pdf

A Novel Homozygous In-Frame Deletion in Complement Factor 3 Underlies Early-Onset Autosomal Recessive Atypical Hemolytic Uremic Syndrome - Case Report.

Pollack S et al.

Frontiers in Immunology, 2021

Exploiting the Autozygome to Support Previously Published Mendelian Gene-Disease Associations: An Update.

Maddirevula S et al.

Frontiers in Genetics, 2020

An Ex Vivo Test of Complement Activation on Endothelium for Individualized Eculizumab Therapy in Hemolytic Uremic Syndrome.

Galbusera M et al.

American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation, 2019

Terminal complement effectors in atypical hemolytic uremic syndrome: C5a, C5b-9, or a bit of both?

Noris M et al.

Kidney International, 2019

Hyperfunctional complement C3 promotes C5-dependent atypical hemolytic uremic syndrome in mice.

Smith-Jackson K et al.

The Journal of Clinical Investigation, 2019

Genotype-phenotype correlations of low-frequency variants in the complement system in renal disease and age-related macular degeneration.

Geerlings MJ et al.

Clinical Genetics, 2018

29888403 (PubMed )
Supplement: CGE-94-330-s001.zip › Appendix_S1 › Table_S4.xlsx › C3

The lectin self of complement factor H.

Blaum BS

Current Opinion in Structural Biology, 2017

Regulators of complement activity mediate inhibitory mechanisms through a common C3b-binding mode.

Forneris F et al.

The Embo Journal, 2016

27013439 (PubMed )
Supplement: EMBJ-35-1133-s001.pdf

The role of ADAMTS-13 activity and complement mutational analysis in differentiating acute thrombotic microangiopathies.

Phillips EH et al.

Journal of Thrombosis and Haemostasis : Jth, 2016

The molecular and structural bases for the association of complement C3 mutations with atypical hemolytic uremic syndrome.

Martínez-Barricarte R et al.

Molecular Immunology, 2015

Atypical hemolytic uremic syndrome.

Kavanagh D et al.

Seminars in Nephrology, 2013

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