Novel Mutations Causing C5 Deficiency in Three North-African Families. (Q40736568)

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31 March 2020

title

Novel Mutations Causing C5 Deficiency in Three North-African Families (English)

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31 March 2020

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31 March 2020

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31 March 2020

Natàlia Padilla Sirera

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31 March 2020

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31 March 2020

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Manuel Hernandez-Gonzalez

31 March 2020

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31 March 2020

Neus Baena

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31 March 2020

Elisabeth Gabau

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31 March 2020

Andrea Martín-Nalda

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31 March 2020

publication date

30 March 2016

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Journal of Clinical Immunology

31 March 2020

published in

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volume

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issue

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page(s)

388-396

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Complement: a key system for immune surveillance and homeostasis

31 March 2020

cites work

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Role of C5a in inflammatory responses

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Complement deficiency states and meningococcal disease

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Skipping of exon 30 in C5 gene results in complete human C5 deficiency and demonstrates the importance of C5d and CUB domains for stability.

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Human genetic deficiencies reveal the roles of complement in the inflammatory network: lessons from nature

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Primary complement C5 deficiencies - molecular characterization and clinical review of two families

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Linking C5 deficiency to an exonic splicing enhancer mutation

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Molecular characterization of three new mutations causing C5 deficiency in two non-related families

21 January 2018

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A complement C5 gene mutation, c.754G>A:p.A252T, is common in the Western Cape, South Africa and found to be homozygous in seven percent of Black African meningococcal disease cases

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C5 complement deficiency in a Saudi family, molecular characterization of mutation and literature review

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Structure of and influence of a tick complement inhibitor on human complement component 5

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Critical roles of complement and antibodies in host defense mechanisms against Neisseria meningitidis as revealed by human complement genetic deficiencies

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Genome-wide and paternal diversity reveal a recent origin of human populations in North Africa

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An integrated map of genetic variation from 1,092 human genomes

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Structure of the murine fifth complement component (C5) gene. A large, highly interrupted gene with a variant donor splice site and organizational homology with the third and fourth complement component genes

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12 December 2020

Meningococcal meningitis in familial deficiency of the fifth component of complement

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12 December 2020

Complement plays a central role in Candida albicans-induced cytokine production by human PBMCs

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12 December 2020

Genomic ancestry of North Africans supports back-to-Africa migrations

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Complement System Part I - Molecular Mechanisms of Activation and Regulation

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Structural aspects of the human C5 gene. Intron/exon organization, 5'-flanking region features, and characterization of two truncated cDNA clones.

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C5 complement deficiency in a Spanish family. Molecular characterization of the double mutation responsible for the defect

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Inherited human complement C5 deficiency. Nonsense mutations in exons 1 (Gln1 to Stop) and 36 (Arg1458 to Stop) and compound heterozygosity in three African-American families

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Complement--tapping into new sites and effector systems

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12 December 2020