Literature DB >> 20876473

Evolution of a tumor-like lesion in cerebroretinal vasculopathy and TREX1 mutation.

F J Mateen1, K Krecke, B R Younge, A L Ford, A Shaikh, P H Kothari, J P Atkinson.   

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Year:  2010        PMID： 20876473      PMCID： PMC3013489          DOI： 10.1212/WNL.0b013e3181f4d7ac

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


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  6 in total

1.  Identification and expression of the TREX1 and TREX2 cDNA sequences encoding mammalian 3'-->5' exonucleases.

Authors:  D J Mazur; F W Perrino
Journal:  J Biol Chem       Date:  1999-07-09       Impact factor: 5.157

2.  The exonuclease TREX1 is in the SET complex and acts in concert with NM23-H1 to degrade DNA during granzyme A-mediated cell death.

Authors:  Dipanjan Chowdhury; Paul J Beresford; Pengcheng Zhu; Dong Zhang; Jung-Suk Sung; Bruce Demple; Fred W Perrino; Judy Lieberman
Journal:  Mol Cell       Date:  2006-07-07       Impact factor: 17.970

3.  Cerebroretinal vasculopathy. A new hereditary syndrome.

Authors:  M G Grand; J Kaine; K Fulling; J Atkinson; S B Dowton; M Farber; J Craver; K Rice
Journal:  Ophthalmology       Date:  1988-05       Impact factor: 12.079

4.  C-terminal truncations in human 3'-5' DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy.

Authors:  Anna Richards; Arn M J M van den Maagdenberg; Joanna C Jen; David Kavanagh; Paula Bertram; Dirk Spitzer; M Kathryn Liszewski; Maria-Louise Barilla-Labarca; Gisela M Terwindt; Yumi Kasai; Mike McLellan; Mark Gilbert Grand; Kaate R J Vanmolkot; Boukje de Vries; Jijun Wan; Michael J Kane; Hafsa Mamsa; Ruth Schäfer; Anine H Stam; Joost Haan; Paulus T V M de Jong; Caroline W Storimans; Mary J van Schooneveld; Jendo A Oosterhuis; Andreas Gschwendter; Martin Dichgans; Katya E Kotschet; Suzanne Hodgkinson; Todd A Hardy; Martin B Delatycki; Rula A Hajj-Ali; Parul H Kothari; Stanley F Nelson; Rune R Frants; Robert W Baloh; Michel D Ferrari; John P Atkinson
Journal:  Nat Genet       Date:  2007-07-29       Impact factor: 38.330

5.  Trex1 exonuclease degrades ssDNA to prevent chronic checkpoint activation and autoimmune disease.

Authors:  Yun-Gui Yang; Tomas Lindahl; Deborah E Barnes
Journal:  Cell       Date:  2007-11-30       Impact factor: 41.582

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

Authors:  Yanick J Crow; Bruce E Hayward; Rekha Parmar; Peter Robins; Andrea Leitch; Manir Ali; Deborah N Black; Hans van Bokhoven; Han G Brunner; Ben C Hamel; Peter C Corry; Frances M Cowan; Suzanne G Frints; Joerg Klepper; John H Livingston; Sally Ann Lynch; Roger F Massey; Jean François Meritet; Jacques L Michaud; Gerard Ponsot; Thomas Voit; Pierre Lebon; David T Bonthron; Andrew P Jackson; Deborah E Barnes; Tomas Lindahl
Journal:  Nat Genet       Date:  2006-07-16       Impact factor: 38.330
  6 in total
  15 in total

1.  Patients with retinal vasculitis rarely suffer from systemic vasculitis.

Authors:  James T Rosenbaum; Jennifer Ku; Amro Ali; Dongseok Choi; Eric B Suhler
Journal:  Semin Arthritis Rheum       Date:  2011-12-15       Impact factor: 5.532

2.  A 44-year-old man with eye, kidney, and brain dysfunction.

Authors:  Ivana Vodopivec; Derek H Oakley; Cory A Perugino; Nagagopal Venna; E Tessa Hedley-Whyte; John H Stone
Journal:  Ann Neurol       Date:  2016-03-07       Impact factor: 10.422

Review 3.  Genetic susceptibility to ischemic stroke.

Authors:  James F Meschia; Bradford B Worrall; Stephen S Rich
Journal:  Nat Rev Neurol       Date:  2011-05-31       Impact factor: 42.937

4.  Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations.

Authors:  Anine H Stam; Parul H Kothari; Aisha Shaikh; Andreas Gschwendter; Joanna C Jen; Suzanne Hodgkinson; Todd A Hardy; Michael Hayes; Peter A Kempster; Katya E Kotschet; Ingeborg M Bajema; Sjoerd G van Duinen; Marion L C Maat-Schieman; Paulus T V M de Jong; Marc D de Smet; Didi de Wolff-Rouendaal; Greet Dijkman; Nadine Pelzer; Grant R Kolar; Robert E Schmidt; JoAnne Lacey; Daniel Joseph; David R Fintak; M Gilbert Grand; Elizabeth M Brunt; Helen Liapis; Rula A Hajj-Ali; Mark C Kruit; Mark A van Buchem; Martin Dichgans; Rune R Frants; Arn M J M van den Maagdenberg; Joost Haan; Robert W Baloh; John P Atkinson; Gisela M Terwindt; Michel D Ferrari
Journal:  Brain       Date:  2016-11-01       Impact factor: 13.501

5.  Intracerebral pseudotumors in a family with cerebroretinal vasculopathy.

Authors:  Korak Sarkar; Christopher Way; Anne Hiniker; Rachel Brock; Arie Perry; Piero Verro
Journal:  Neurol Clin Pract       Date:  2012-09

Review 6.  Human disease phenotypes associated with mutations in TREX1.

Authors:  Gillian I Rice; Mathieu P Rodero; Yanick J Crow
Journal:  J Clin Immunol       Date:  2015-03-04       Impact factor: 8.317

7.  TREX1 - Apex predator of cytosolic DNA metabolism.

Authors:  Sean R Simpson; Wayne O Hemphill; Teesha Hudson; Fred W Perrino
Journal:  DNA Repair (Amst)       Date:  2020-06-12

Review 8.  Genetic stroke syndromes.

Authors:  Kevin M Barrett; James F Meschia
Journal:  Continuum (Minneap Minn)       Date:  2014-04

Review 9.  Type I interferon dysregulation and neurological disease.

Authors:  Sarah McGlasson; Alexa Jury; Andrew Jackson; David Hunt
Journal:  Nat Rev Neurol       Date:  2015-08-25       Impact factor: 42.937

10.  TREX1 C-terminal frameshift mutations in the systemic variant of retinal vasculopathy with cerebral leukodystrophy.

Authors:  Jacopo C DiFrancesco; Francesca Novara; Orsetta Zuffardi; Antonella Forlino; Roberta Gioia; Federica Cossu; Martino Bolognesi; Simona Andreoni; Enrico Saracchi; Barbara Frigeni; Tiziana Stellato; Markus Tolnay; David T Winkler; Paolo Remida; Giuseppe Isimbaldi; Carlo Ferrarese
Journal:  Neurol Sci       Date:  2014-09-12       Impact factor: 3.307
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