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

Molecular Immunology

Volumn 66, Issue 2, 2015, Pages 263-273

  Martínez Barricarte, Rubén ^a,b   Heurich, Meike ^c   López Perrote, Andrés ^a   Tortajada, Agustin ^a,b   Pinto, Sheila ^a,b   López Trascasa, Margarita ^a,d   Sánchez Corral, Pilar ^a,d   Morgan, B Paul ^c   Llorca, Oscar ^a   Harris, Claire L ^c   Rodríguez de Córdoba, Santiago ^a  

^a CENTRO DE INVESTIGACIONES BIOLÓGICAS   (Spain)

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

^c CARDIFF UNIVERSITY   (United Kingdom)

^d HOSPITAL UNIVERSITARIO LA PAZ   (Spain)

Author keywords

Atypical hemolytic uremic syndrome; C3 mutation; Complement C3; Factor H; MCP; TED

Indexed keywords

COMPLEMENT COMPONENT C3B; COMPLEMENT FACTOR H; MEMBRANE COFACTOR PROTEIN; CD46 PROTEIN, HUMAN; COMPLEMENT COMPONENT C3; FIBRINOGEN; PROTEIN BINDING; RECOMBINANT PROTEIN;

ARTICLE; DISEASE SEVERITY; ELECTRON MICROSCOPY; FEMALE; GENE MUTATION; GENETIC ASSOCIATION; GENETIC RISK; GENETIC VARIABILITY; HAPLOTYPE; HEMOLYTIC UREMIC SYNDROME; HUMAN; INHERITANCE; MAJOR CLINICAL STUDY; PENETRANCE; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN CLEAVAGE; PROTEIN DEGRADATION; PROTEIN DOMAIN; REGULATORY MECHANISM; SURFACE PROPERTY; ADOLESCENT; ADULT; BINDING SITE; CHEMICAL STRUCTURE; CHEMISTRY; CHILD; GENE EXPRESSION; GENETIC PREDISPOSITION; GENETICS; IMMUNOLOGY; MALE; MOLECULAR GENETICS; MUTATION; NUCLEOTIDE SEQUENCE; PATHOLOGY; PROTEIN TERTIARY STRUCTURE; SEVERITY OF ILLNESS INDEX;

ADOLESCENT; ADULT; ANTIGENS, CD46; ATYPICAL HEMOLYTIC UREMIC SYNDROME; BASE SEQUENCE; BINDING SITES; CHILD; COMPLEMENT C3; COMPLEMENT FACTOR H; FEMALE; FIBRINOGEN; GENE EXPRESSION; GENETIC PREDISPOSITION TO DISEASE; HAPLOTYPES; HUMANS; MALE; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MUTATION; PROTEIN BINDING; PROTEIN STRUCTURE, TERTIARY; PROTEOLYSIS; RECOMBINANT PROTEINS; SEVERITY OF ILLNESS INDEX;

EID: 84927124445     PISSN: 01615890     EISSN: 18729142     Source Type: Journal    
DOI: 10.1016/j.molimm.2015.03.248     Document Type: Article

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