The interactive Factor H-atypical hemolytic uremic syndrome mutation database and website: update and integration of membrane cofactor protein and Factor I mutations with structural models (Q28272816)

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English	The interactive Factor H-atypical hemolytic uremic syndrome mutation database and website: update and integration of membrane cofactor protein and Factor I mutations with structural models	scientific article

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The interactive Factor H-atypical hemolytic uremic syndrome mutation database and website: update and integration of membrane cofactor protein and Factor I mutations with structural models (English)

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Véronique Frémeaux-Bacchi

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Elena Goicoechea de Jorge

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Santiago Rodriguez de Córdoba

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Santiago Rodríguez de Córdoba

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Giuseppe Remuzzi

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Giuseppe Remuzzi

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13

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Peter F Zipfel

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Christine Skerka

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Christine Skerka

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Timothy H J Goodship

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Timothy H J Goodship

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7

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Marina Noris

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Stephen J Perkins

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Stephen J Perkins

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Rebecca E Saunders

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Rebecca E Saunders

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Cynthia Abarrategui-Garrido

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Margarita López Trascasa

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Isabel Maria Ponce Castro

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Pilar Sánchez-Corral

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publication date

March 2007

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28

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3

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222-34

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Iterated profile searches with PSI-BLAST--a tool for discovery in protein databases

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Folded-back solution structure of monomeric factor H of human complement by synchrotron X-ray and neutron scattering, analytical ultracentrifugation and constrained molecular modelling

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The extended multidomain solution structures of the complement protein Crry and its chimeric conjugate Crry-Ig by scattering, analytical ultracentrifugation and constrained modelling: implications for function and therapy

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Human factor H deficiency. Mutations in framework cysteine residues and block in H protein secretion and intracellular catabolism

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Endothelial cell activation

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The crystal structure of the zymogen catalytic domain of complement protease C1r reveals that a disruptive mechanical stress is required to trigger activation of the C1 complex

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Genetics of HUS: the impact of MCP, CFH, and IF mutations on clinical presentation, response to treatment, and outcome

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Crystal structure of two CD46 domains reveals an extended measles virus-binding surface

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Possible arrangement of the five domains in human complement factor I as determined by a combination of X-ray and neutron scattering and homology modeling.

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Evidence for distinct complement regulatory and measles virus binding sites on CD46 SCR2.

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Heterozygous and homozygous factor h deficiencies associated with hemolytic uremic syndrome or membranoproliferative glomerulonephritis: report and genetic analysis of 16 cases

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Predisposition to atypical hemolytic uremic syndrome involves the concurrence of different susceptibility alleles in the regulators of complement activation gene cluster in 1q32.

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Insights into hemolytic uremic syndrome: segregation of three independent predisposition factors in a large, multiple affected pedigree

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Molecular basis of familial hypercholesterolaemia from structure of LDL receptor module

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Challenges in the management of infantile factor H associated hemolytic uremic syndrome.

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Complement factor I: a susceptibility gene for atypical haemolytic uraemic syndrome

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Genetic and functional analyses of membrane cofactor protein (CD46) mutations in atypical hemolytic uremic syndrome

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Structure of vaccinia complement protein in complex with heparin and potential implications for complement regulation

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Solution structure of the complex between CR2 SCR 1-2 and C3d of human complement: an X-ray scattering and sedimentation modelling study

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The 15 SCR flexible extracellular domains of human complement receptor type 2 can mediate multiple ligand and antigen interactions

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Complement C3b/C3d and cell surface polyanions are recognized by overlapping binding sites on the most carboxyl-terminal domain of complement factor H

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Disease-associated sequence variations congregate in a polyanion recognition patch on human factor H revealed in three-dimensional structure

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CLUSTAL W: improving the sensitivity of progressive multiple sequence alignment through sequence weighting, position-specific gap penalties and weight matrix choice

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Crystal structure of a scavenger receptor cysteine-rich domain sheds light on an ancient superfamily

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Crystal structures of the heparan sulfate-binding domain of follistatin. Insights into ligand binding

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Structure of complement factor H carboxyl-terminus reveals molecular basis of atypical haemolytic uremic syndrome

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Factor H and atypical hemolytic uremic syndrome: mutations in the C-terminus cause structural changes and defective recognition functions

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Mutations in complement factor I predispose to development of atypical hemolytic uremic syndrome

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PROCHECK: a program to check the stereochemical quality of protein structures

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Deletion of Lys224 in regulatory domain 4 of Factor H reveals a novel pathomechanism for dense deposit disease (MPGN II)

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Dissecting Sites Important for Complement Regulatory Activity in Membrane Cofactor Protein (MCP; CD46)

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Integrating mutation data and structural analysis of the TP53 tumor-suppressor protein

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Crystal structure of a complement control protein that regulates both pathways of complement activation and binds heparan sulfate proteoglycans

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Familial haemolytic uraemic syndrome and an MCP mutation

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Clustering of missense mutations in the C-terminal region of factor H in atypical hemolytic uremic syndrome.

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A study of the structure of human complement component factor H by Fourier transform infrared spectroscopy and secondary structure averaging methods.

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Solution structures of complement components by X-ray and neutron scattering and analytical ultracentrifugation

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Molecular modelling of the C-terminal domains of factor H of human complement: a correlation between haemolytic uraemic syndrome and a predicted heparin binding site

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Mutations in human complement regulator, membrane cofactor protein (CD46), predispose to development of familial hemolytic uremic syndrome

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The human complement factor H: functional roles, genetic variations and disease associations

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An interactive web database of factor H-associated hemolytic uremic syndrome mutations: insights into the structural consequences of disease-associated mutations

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Identification of three physically and functionally distinct binding sites for C3b in human complement factor H by deletion mutagenesis

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Conformational lability in serine protease active sites: structures of hepatocyte growth factor activator (HGFA) alone and with the inhibitory domain from HGFA inhibitor-1B

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10.1002/HUMU.20435

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