Clinical and molecular phenotype of Aicardi-Goutieres syndrome.

@article{Rice2007ClinicalAM,
  title={Clinical and molecular phenotype of Aicardi-Goutieres syndrome.},
  author={Gillian Rice and T. Ellinor Patrick and Rekha Parmar and Claire Frances Taylor and Alec Aeby and Jean Aicardi and Rafael Artuch and Simon Paul Attard Montalto and Carlos A Bacino and Bruno Barroso and Peter David Baxter and Willam S Benko and Carsten Bergmann and Enrico Bertini and Roberta Biancheri and Edward M. Blair and Nenad Blau and David T. Bonthron and Tracy A Briggs and Louise A. Brueton and Han G. Brunner and Christopher J Burke and Ian M. Carr and Daniel Rocha Carvalho and Kate Emma Chandler and Hans-Jurgen Christen and Peter C. Corry and Frances M. Cowan and Helen J. Cox and Stefano D'Arrigo and John Dean and Corinne de Laet and Claudine De Praeter and C. Dery and Colin D. Ferrie and Kim Flintoff and Suzanna Gerarda Maria Frints and Angels Garcia-Cazorla and Blanca Gener and Cyril Goizet and Françoise Goutieres and Andrew Justin Green and Agn{\`e}s F. Guet and Ben C J Hamel and Bruce E. Hayward and Arvid Heiberg and Raoul C. M. Hennekam and Marie Husson and Andrew P. Jackson and Rasieka Jayatunga and Yong-hui Jiang and Sarina G. Kant and Amy Kao and Mary Dolores King and H. M. “Skip” Kingston and Joerg Klepper and Marjo S van der Knaap and Andrew J. Kornberg and Dieter Kotzot and Wilfried Kratzer and Didier Lacombe and Lieven Lagae and Pierre Georges Landrieu and Giovanni Lanzi and Andrea Leitch and Ming J Lim and John H Livingston and Charles M Lourenço and Elizabeth Grace Hermione Lyall and Sally Ann Lynch and Michael James Christopher Lyons and Daphna R Marom and J. Mcclure and Robert C. McWilliam and Serge B. Melançon and Leena Duvika Mewasingh and Marie-Laure Moutard and Ken Kanwal Nischal and John Rosendahl Ostergaard and Julie Prendiville and M Rasmussen and Ronald C. Rogers and Dominique Roland and Elisabeth M Rosser and Kevin Rost{\'a}sy and Agathe Roubertie and Amparo Gonz{\'a}lez Sanchis and Raphael Schiffmann and Sabine Scholl-Burgi and Sunita Seal and Stavit Allon Shalev and C Sierra Corcoles and Gyan P Sinha and Doriette Soler and Ronen Spiegel and John B. P. Stephenson and Uta Tacke and Tiong Yang Tan and M. E. van Till and J. Tolmie and Pam Tomlin and Federica Vagnarelli and Enza Maria Valente and Rudy N A Van Coster and Nathalie Van der Aa and Adeline Vanderver and Johannes S. H. Vles and Thomas Voit and Evangeline Wassmer and Bernhard Weschke and Margo L. Whiteford and Michel A A Willemsen and Andreas Zankl and Sameer M Zuberi and Simona Orcesi and Elisa M. Fazzi and Pierre Lebon and Yanick J Crow},
  journal={American journal of human genetics},
  year={2007},
  volume={81 4},
  pages={
          713-25
        }
}
Aicardi-Goutieres syndrome (AGS) is a genetic encephalopathy whose clinical features mimic those of acquired in utero viral infection. AGS exhibits locus heterogeneity, with mutations identified in genes encoding the 3'-->5' exonuclease TREX1 and the three subunits of the RNASEH2 endonuclease complex. To define the molecular spectrum of AGS, we performed mutation screening in patients, from 127 pedigrees, with a clinical diagnosis of the disease. Biallelic mutations in TREX1, RNASEH2A, RNASEH2B… CONTINUE READING

Citations

Publications citing this paper.
SHOWING 1-10 OF 101 CITATIONS

Aicardi-Goutières syndrome (AGS).

  • European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
  • 2008
VIEW 17 EXCERPTS
CITES BACKGROUND
HIGHLY INFLUENCED

Nucleic acid-mediated inflammatory diseases.

  • BioEssays : news and reviews in molecular, cellular and developmental biology
  • 2008
VIEW 22 EXCERPTS
CITES BACKGROUND
HIGHLY INFLUENCED

Exploring Autoimmunity in a Cohort of Children with Genetically Confirmed Aicardi–Goutières Syndrome

  • Journal of Clinical Immunology
  • 2016
VIEW 4 EXCERPTS
CITES BACKGROUND
HIGHLY INFLUENCED

Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome.

  • Arthritis and rheumatism
  • 2010
VIEW 4 EXCERPTS
CITES BACKGROUND
HIGHLY INFLUENCED

Aicardi-Goutieres syndrome and related phenotypes: linking nucleic acid metabolism with autoimmunity.

  • Human molecular genetics
  • 2009
VIEW 5 EXCERPTS
CITES BACKGROUND & RESULTS
HIGHLY INFLUENCED

RNaseH2 mutants that cause Aicardi–Goutieres syndrome are active nucleases

  • Journal of Molecular Medicine
  • 2008
VIEW 14 EXCERPTS
CITES BACKGROUND
HIGHLY INFLUENCED

FILTER CITATIONS BY YEAR

2007
2018

CITATION STATISTICS

  • 28 Highly Influenced Citations

  • Averaged 8 Citations per year over the last 3 years

  • 14% Increase in citations per year in 2018 over 2017

References

Publications referenced by this paper.
SHOWING 1-10 OF 31 REFERENCES

The crystal structure of TREX1 explains the 3′ nucleotide specificity and reveals a polyproline ii helix for protein partnering

U de Silva, S Choudhury, +3 authors T Hollis
  • J Biol Chem
  • 2007

Mutations in the gene encoding the 3′-5′ DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus

Yanick J Crow, Bruce E Hayward, +23 authors Tomas Lindahl
  • Nature Genetics
  • 2006
VIEW 1 EXCERPT

Similar Papers

Loading similar papers…