C3 glomerulopathy-associated CFHR1 mutation alters FHR oligomerization and complement regulation

Journal of Clinical Investigation

Volumn 123, Issue 6, 2013, Pages 2434-2446

  Tortajada, Agustín ^a,b   Yébenes, Hugo ^a   Abarrategui Garrido, Cynthia ^b,c   Anter, Jaouad ^a,b   García Fernández, Jesús M ^a,b   Martínez Barricarte, Rubén ^a,b   Alba Domínguez, María ^b,c   Malik, Talat H ^d   Bedoya, Rafael ^e   Pérez, Rocío Cabrera ^e   Trascasa, Margarita López ^b,c   Pickering, Matthew C ^d   Harris, Claire L ^f   Sánchez Corral, Pilar ^b,c   Llorca, Oscar ^a   De Córdoba, Santiago Rodríguez ^a,b  

^a CENTRO DE INVESTIGACIONES BIOLÓGICAS   (Spain)

^b CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

^c HOSPITAL UNIVERSITARIO LA PAZ IDIPAZ   (Spain)

^d IMPERIAL COLLEGE LONDON   (United Kingdom)

^e HOSPITAL UNIVERSITARIO VIRGEN DEL ROCÍO   (Spain)

^f CARDIFF UNIVERSITY   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENT COMPONENT C3; COMPLEMENT COMPONENT C3B; COMPLEMENT FACTOR H; COMPLEMENT FACTOR H RELATED 1; DNA FRAGMENT; FACTOR H RELATED PROTEIN 1; FACTOR H RELATED PROTEIN 2; FACTOR H RELATED PROTEIN 5; GENOMIC DNA; MEMBRANE COFACTOR PROTEIN; UNCLASSIFIED DRUG;

ARTICLE; C3 GLOMERULOPATHY; CHILD; COMPARATIVE GENOMIC HYBRIDIZATION; COMPLEMENT ACTIVATION; COPY NUMBER VARIATION; DOMINANT INHERITANCE; GENOTYPE; GLOMERULOPATHY; GUINEA PIG; HUMAN; MALE; MOLECULAR WEIGHT; NONHUMAN; OLIGOMERIZATION; PH; PRIORITY JOURNAL; PROTEIN PROCESSING; SCHOOL CHILD;

CHILD; COMPLEMENT C3; COMPLEMENT C3B INACTIVATOR PROTEINS; COMPLEMENT SYSTEM PROTEINS; FEMALE; GENE DUPLICATION; HEMOLYSIS; HUMANS; IMMOBILIZED PROTEINS; KIDNEY; KIDNEY DISEASES; MALE; MIDDLE AGED; MUTAGENESIS, INSERTIONAL; PEDIGREE; PROTEIN BINDING; PROTEIN MULTIMERIZATION; PROTEIN STRUCTURE, QUATERNARY; SEQUENCE ANALYSIS, DNA;

EID: 84878548121     PISSN: 00219738     EISSN: 15588238     Source Type: Journal    
DOI: 10.1172/JCI68280     Document Type: Article

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