Literature DB >> 2894352

A homozygous point mutation results in a stop codon in the C1q B-chain of a C1q-deficient individual.

R A McAdam1, D Goundis, K B Reid.   

Abstract

Southern blot analysis of the B-chain genes in one of eight C1q-deficient individuals revealed an abnormal banding pattern. The defect, which was homozygous, could be localized by restriction mapping to a single Taq I site within residue 150 in the coding region of the B-chain gene. DNA sequencing across the site revealed a stop codon that would cause premature termination of the protein product. No material corresponding to the A or C chains, or a truncated B chain, could be identified by antigenic analysis of the patient's serum, indicating that a complete B chain is required for secretion of a C1q molecule.

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Year:  1988        PMID： 2894352     DOI： 10.1007/bf00376120

Source DB:  PubMed          Journal:  Immunogenetics        ISSN： 0093-7711            Impact factor:   2.846


  29 in total

Review 1.  Activation of the complement system by antibody-antigen complexes: the classical pathway.

Authors:  R R Porter; K B Reid
Journal:  Adv Protein Chem       Date:  1979

2.  Conformational changes in C1q after binding to immune complexes: detection of neoantigens with monoclonal antibodies.

Authors:  M D Golan; R Burger; M Loos
Journal:  J Immunol       Date:  1982-08       Impact factor: 5.422

3.  Polymorphic DNA region adjacent to the 5' end of the human insulin gene.

Authors:  G I Bell; J H Karam; W J Rutter
Journal:  Proc Natl Acad Sci U S A       Date:  1981-09       Impact factor: 11.205

4.  Characterization of a non-functional form of C1q found in patients with a genetically linked deficiency of C1q activity.

Authors:  K B Reid; R A Thompson
Journal:  Mol Immunol       Date:  1983-10       Impact factor: 4.407

5.  Lambda replacement vectors carrying polylinker sequences.

Authors:  A M Frischauf; H Lehrach; A Poustka; N Murray
Journal:  J Mol Biol       Date:  1983-11-15       Impact factor: 5.469

6.  Distinct genes for fibroblast and serum C1q.

Authors:  J Skok; E Solomon; K B Reid; R A Thompson
Journal:  Nature       Date:  1981-08-06       Impact factor: 49.962

7.  A complete selective C1q deficiency in a patient with discoid lupus erythematosus (DLE).

Authors:  A Uenaka; T Akimoto; T Aoki; I Tsuyuguchi; K Nagaki
Journal:  Clin Exp Immunol       Date:  1982-05       Impact factor: 4.330

8.  Lupus erythematosus-like syndrome with selective complete deficiency of C1q.

Authors:  H Nishino; K Shibuya; Y Nishida; M Mushimoto
Journal:  Ann Intern Med       Date:  1981-09       Impact factor: 25.391

9.  Selective complete Clq deficiency associated with systemic lupus erythematosus.

Authors:  K Steinsson; R H McLean; M Merrow; N F Rothfield; A Weinstein
Journal:  J Rheumatol       Date:  1983-08       Impact factor: 4.666

10.  Low molecular weight C1q in systemic lupus erythematosus.

Authors:  R Hoekzema; A J Hannema; T J Swaak; J Paardekooper; C E Hack
Journal:  J Immunol       Date:  1985-07       Impact factor: 5.422
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  14 in total

Review 1.  Complement deficiency.

Authors:  K M O'Neil
Journal:  Clin Rev Allergy Immunol       Date:  2000-10       Impact factor: 8.667

Review 2.  Immunology in clinic review series; focus on autoinflammatory diseases: update on monogenic autoinflammatory diseases: the role of interleukin (IL)-1 and an emerging role for cytokines beyond IL-1.

Authors:  R Goldbach-Mansky
Journal:  Clin Exp Immunol       Date:  2012-03       Impact factor: 4.330

3.  Common silent mutations in all types of hereditary complement C1q deficiencies.

Authors:  Franz Petry; Michael Loos
Journal:  Immunogenetics       Date:  2005-09-29       Impact factor: 2.846

4.  Characterization and organization of the genes encoding the A-, B- and C-chains of human complement subcomponent C1q. The complete derived amino acid sequence of human C1q.

Authors:  G C Sellar; D J Blake; K B Reid
Journal:  Biochem J       Date:  1991-03-01       Impact factor: 3.857

5.  [Genetics of lupus erythematosus].

Authors:  Claudia Günther
Journal:  Hautarzt       Date:  2015-02       Impact factor: 0.751

6.  Early Complement Component Deficiency in a Single-Centre Cohort of Pediatric Onset Lupus.

Authors:  Sagar Bhattad; Amit Rawat; Anju Gupta; Deepti Suri; Ravinder Garg; Martin de Boer; Taco W Kuijpers; Surjit Singh
Journal:  J Clin Immunol       Date:  2015-11-13       Impact factor: 8.317

7.  Complete functional C1q deficiency associated with systemic lupus erythematosus (SLE).

Authors:  M Kirschfink; F Petry; K Khirwadkar; R Wigand; J P Kaltwasser; M Loos
Journal:  Clin Exp Immunol       Date:  1993-11       Impact factor: 4.330

8.  C1q deficiency: identification of a novel missense mutation and treatment with fresh frozen plasma.

Authors:  Rezan Topaloglu; Ekim Z Taskiran; Cagman Tan; Baran Erman; Fatih Ozaltin; Ozden Sanal
Journal:  Clin Rheumatol       Date:  2012-05-11       Impact factor: 2.980

9.  Systematic identification of trans eQTLs as putative drivers of known disease associations.

Authors:  Harm-Jan Westra; Marjolein J Peters; Tõnu Esko; Hanieh Yaghootkar; Claudia Schurmann; Johannes Kettunen; Mark W Christiansen; Bruce M Psaty; Samuli Ripatti; Alexander Teumer; Timothy M Frayling; Andres Metspalu; Joyce B J van Meurs; Lude Franke; Benjamin P Fairfax; Katharina Schramm; Joseph E Powell; Alexandra Zhernakova; Daria V Zhernakova; Jan H Veldink; Leonard H Van den Berg; Juha Karjalainen; Sebo Withoff; André G Uitterlinden; Albert Hofman; Fernando Rivadeneira; Peter A C 't Hoen; Eva Reinmaa; Krista Fischer; Mari Nelis; Lili Milani; David Melzer; Luigi Ferrucci; Andrew B Singleton; Dena G Hernandez; Michael A Nalls; Georg Homuth; Matthias Nauck; Dörte Radke; Uwe Völker; Markus Perola; Veikko Salomaa; Jennifer Brody; Astrid Suchy-Dicey; Sina A Gharib; Daniel A Enquobahrie; Thomas Lumley; Grant W Montgomery; Seiko Makino; Holger Prokisch; Christian Herder; Michael Roden; Harald Grallert; Thomas Meitinger; Konstantin Strauch; Yang Li; Ritsert C Jansen; Peter M Visscher; Julian C Knight
Journal:  Nat Genet       Date:  2013-09-08       Impact factor: 38.330

10.  Interferon gamma induces synthesis of complement alternative pathway proteins by human endothelial cells in culture.

Authors:  J Ripoche; J A Mitchell; A Erdei; C Madin; B Moffatt; T Mokoena; S Gordon; R B Sim
Journal:  J Exp Med       Date:  1988-11-01       Impact factor: 14.307
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