Literature DB >> 24157463

Rothmund-Thomson syndrome and glomerulonephritis in a homozygous C1q-deficient patient due to a Gly164Ser C1qC mutation.

Alberto López-Lera1, Juan M Torres-Canizales2, Sofía Garrido3, Adelaida Morales4, Margarita López-Trascasa5.   

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Year:  2013        PMID： 24157463     DOI： 10.1038/jid.2013.444

Source DB:  PubMed          Journal:  J Invest Dermatol        ISSN： 0022-202X            Impact factor:   8.551


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  8 in total

1.  Functional complement C1q abnormality leads to impaired immune complexes and apoptotic cell clearance.

Authors:  Lubka T Roumenina; Damien Sène; Maria Radanova; Jacques Blouin; Lise Halbwachs-Mecarelli; Marie-Agnes Dragon-Durey; Wolf H Fridman; Veronique Fremeaux-Bacchi
Journal:  J Immunol       Date:  2011-09-19       Impact factor: 5.422

2.  The crystal structure of the globular head of complement protein C1q provides a basis for its versatile recognition properties.

Authors:  Christine Gaboriaud; Jordi Juanhuix; Arnaud Gruez; Monique Lacroix; Claudine Darnault; David Pignol; Denis Verger; Juan C Fontecilla-Camps; Gérard J Arlaud
Journal:  J Biol Chem       Date:  2003-09-05       Impact factor: 5.157

3.  Homozygous C1q deficiency causes glomerulonephritis associated with multiple apoptotic bodies.

Authors:  M Botto; C Dell'Agnola; A E Bygrave; E M Thompson; H T Cook; F Petry; M Loos; P P Pandolfi; M J Walport
Journal:  Nat Genet       Date:  1998-05       Impact factor: 38.330

4.  Molecular basis of hereditary C1q deficiency--revisited: identification of several novel disease-causing mutations.

Authors:  L Schejbel; L Skattum; S Hagelberg; A Åhlin; B Schiller; S Berg; F Genel; L Truedsson; P Garred
Journal:  Genes Immun       Date:  2011-06-09       Impact factor: 2.676

5.  Mice lacking DNA topoisomerase IIIbeta develop to maturity but show a reduced mean lifespan.

Authors:  K Y Kwan; J C Wang
Journal:  Proc Natl Acad Sci U S A       Date:  2001-05-01       Impact factor: 11.205

Review 6.  Rothmund-Thomson syndrome.

Authors:  Lidia Larizza; Gaia Roversi; Ludovica Volpi
Journal:  Orphanet J Rare Dis       Date:  2010-01-29       Impact factor: 4.123

7.  Familial C1q deficiency associated with renal and cutaneous disease.

Authors:  F Leyva-Cobián; I Moneo; F Mampaso; M Sánchez-Bayle; J L Ecija; A Bootello
Journal:  Clin Exp Immunol       Date:  1981-04       Impact factor: 4.330

8.  Dominantly inherited glomerulonephritis and an unusual skin disease.

Authors:  M C Sherwood; J R Pincott; F J Goodwin; M J Dillon
Journal:  Arch Dis Child       Date:  1987-12       Impact factor: 3.791
  8 in total
  1 in total

1.  Prediction of Human Phenotype Ontology terms by means of hierarchical ensemble methods.

Authors:  Marco Notaro; Max Schubach; Peter N Robinson; Giorgio Valentini
Journal:  BMC Bioinformatics       Date:  2017-10-12       Impact factor: 3.169
  1 in total

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