Varaico: Literature-Extracted Genetic Variants

Gene:CD59
Variant:p.C89Y
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CD59

NM_000611.6:p.C89Y

Associated Papers

Genetic variants in the CD59 gene: An exploratory study of large genome databases.

Srivastava K et al.

Transfusion, 2025

Inherited CD59 deficiency, where neurology and genetics intertwine.

Almutawea LM et al.

Neurosciences (riyadh, Saudi Arabia), 2023

CD59-Regulated Ras Compartmentalization Orchestrates Antitumor T-cell Immunity.

Li L et al.

Cancer Immunology Research, 2022

A Splice Site Mutation Associated with Congenital CD59 Deficiency.

Chai JN et al.

Hematology Reports, 2022

The Role of the Complement System in Chronic Inflammatory Demyelinating Polyneuropathy: Implications for Complement-Targeted Therapies.

Querol LA et al.

Neurotherapeutics : the Journal of the American Society for Experimental Neurotherapeutics, 2022

Complement and the prothrombotic state.

Schmidt CQ et al.

Blood, 2022

Optic neuritis in CD59 deficiency: an extremely rare presentation.

Günay Ç et al.

The Turkish Journal of Pediatrics, 2022

Lysine acetylation regulates the interaction between proteins and membranes.

Okada AK et al.

Nature Communications, 2021

34753925 (PubMed )
Supplement: 41467_2021_26657_MOESM4_ESM.zip › Bioinformatics.zip › Datasets › Unused › PTMVAR_download.xlsx › Humsavar_overlap_2PSP_PTM5-14-1

New Duchenne Muscular Dystrophy Mutation.

Calabria Gallego MD et al.

Journal of Clinical Neuromuscular Disease, 2020

Pharmacology, Pharmacokinetics and Pharmacodynamics of Eculizumab, and Possibilities for an Individualized Approach to Eculizumab.

Wijnsma KL et al.

Clinical Pharmacokinetics, 2019

Eculizumab Is Safe and Effective as a Long-term Treatment for Protein-losing Enteropathy Due to CD55 Deficiency.

Kurolap A et al.

Journal of Pediatric Gastroenterology and Nutrition, 2019

Absence of pathogenic mutations in CD59 in chronic inflammatory demyelinating polyradiculoneuropathy.

Duchateau L et al.

Plos One, 2019

Molecular pathogenesis of human CD59 deficiency.

Karbian N et al.

Neurology. Genetics, 2018

Uncontrolled inflammation of the nervous system: Inherited CD59 deficiency.

Yuksel D et al.

Neurology. Clinical Practice, 2018

CD59 deficiency presenting as polyneuropathy and Moyamoya syndrome with endothelial abnormalities of small brain vessels.

Klemann C et al.

European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2018

Prothrombotic mechanisms in patients with congenital p.Cys89Tyr mutation in CD59.

Tabib A et al.

Thrombosis Research, 2018

CD59 polymorphisms are associated with gene expression and different sexual susceptibility to pemphigus foliaceus.

Salviano-Silva A et al.

Autoimmunity, 2017

Demyelination, strokes, and eculizumab: Lessons from the congenital CD59 gene mutations.

Tabib A et al.

Molecular Immunology, 2017

Therapy with eculizumab for patients with CD59 p.Cys89Tyr mutation.

Mevorach D et al.

Annals of Neurology, 2016

Devastating recurrent brain ischemic infarctions and retinal disease in pediatric patients with CD59 deficiency.

Ben-Zeev B et al.

European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2015

Paroxysmal nocturnal hemoglobinuria (PNH) and primary p.Cys89Tyr mutation in CD59: Differences and similarities.

Mevorach D

Molecular Immunology, 2015

A new blood group antigen is defined by anti-CD59, detected in a CD59-deficient patient.

Anliker M et al.

Transfusion, 2014

CD59 deficiency is associated with chronic hemolysis and childhood relapsing immune-mediated polyneuropathy.

Nevo Y et al.

Blood, 2013

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