Complete functional characterization of disease-associated genetic variants in the complement factor H gene.

Merinero, Héctor Martín; García, Sheila Pinto; García-Fernández, Jesús; Arjona, Emilia; Tortajada, Agustín; Rodríguez de Córdoba, Santiago

Merinero, Héctor Martín; García, Sheila Pinto; García-Fernández, Jesús; Arjona, Emilia; Tortajada, Agustín; Rodríguez de Córdoba, Santiago.

Affiliation

Merinero HM; Centro de Investigaciones Biológicas and Ciber de Enfermedades Raras, Madrid, Spain.
García SP; Centro de Investigaciones Biológicas and Ciber de Enfermedades Raras, Madrid, Spain.
García-Fernández J; Centro de Investigaciones Biológicas and Ciber de Enfermedades Raras, Madrid, Spain.
Arjona E; Centro de Investigaciones Biológicas and Ciber de Enfermedades Raras, Madrid, Spain.
Tortajada A; Department of Immunology, Complutense University School of Medicine and 12 de Octubre Health Research Institute (imas12), Madrid, Spain.
Rodríguez de Córdoba S; Centro de Investigaciones Biológicas and Ciber de Enfermedades Raras, Madrid, Spain. Electronic address: srdecordoba@cib.csic.es.

Kidney Int ; 93(2): 470-481, 2018 02.

Article in En | MEDLINE | ID: mdl-28941939

Subject(s)

Atypical Hemolytic Uremic Syndrome/genetics; Complement Activation/genetics; Genetic Variation; Glomerulonephritis/genetics; Adolescent; Adult; Atypical Hemolytic Uremic Syndrome/blood; Atypical Hemolytic Uremic Syndrome/diagnosis; Atypical Hemolytic Uremic Syndrome/immunology; Child; Child, Preschool; Complement C3/immunology; Complement Factor H/genetics; Complement Factor H/immunology; Complement Factor H/metabolism; Female; Genetic Association Studies; Genetic Predisposition to Disease; Glomerulonephritis/blood; Glomerulonephritis/diagnosis; Glomerulonephritis/immunology; Humans; Male; Middle Aged; Phenotype; Protein Domains; Registries; Risk Factors; Spain; Structure-Activity Relationship; Young Adult

Key words

C3 glomerulopathy; complement; hemolytic uremic syndrome

Fulltext

XML

PubMed Links

Search on Google

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Genetic Variation / Complement Activation / Atypical Hemolytic Uremic Syndrome / Glomerulonephritis Type of study: Diagnostic_studies / Etiology_studies / Prognostic_studies / Risk_factors_studies Limits: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male / Middle aged Country/Region as subject: Europa Language: En Journal: Kidney Int Year: 2018 Type: Article Affiliation country: Spain

Fulltext

XML

PubMed Links

Search on Google