Literature DB >> 23881107

Heterozygous TREX1 mutations in early-onset cerebrovascular disease.

N Pelzer, B de Vries, E M J Boon, M C Kruit, J Haan, M D Ferrari, A M J M van den Maagdenberg, G M Terwindt.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2013        PMID： 23881107     DOI： 10.1007/s00415-013-7050-8

Source DB:  PubMed          Journal:  J Neurol        ISSN： 0340-5354            Impact factor:   4.849


× No keyword cloud information.
  8 in total

Review 1.  Aicardi-Goutieres syndrome: from patients to genes and beyond.

Authors:  C Chahwan; R Chahwan
Journal:  Clin Genet       Date:  2012-01-08       Impact factor: 4.438

2.  The TREX1 exonuclease R114H mutation in Aicardi-Goutières syndrome and lupus reveals dimeric structure requirements for DNA degradation activity.

Authors:  Clinton D Orebaugh; Jason M Fye; Scott Harvey; Thomas Hollis; Fred W Perrino
Journal:  J Biol Chem       Date:  2011-09-21       Impact factor: 5.157

3.  Evaluation of the TREX1 gene in a large multi-ancestral lupus cohort.

Authors:  B Namjou; P H Kothari; J A Kelly; S B Glenn; J O Ojwang; A Adler; M E Alarcón-Riquelme; C J Gallant; S A Boackle; L A Criswell; R P Kimberly; E Brown; J Edberg; A M Stevens; C O Jacob; B P Tsao; G S Gilkeson; D L Kamen; J T Merrill; M Petri; R R Goldman; L M Vila; J-M Anaya; T B Niewold; J Martin; B A Pons-Estel; J M Sabio; J L Callejas; T J Vyse; S-C Bae; F W Perrino; B I Freedman; R H Scofield; K L Moser; P M Gaffney; J A James; C D Langefeld; K M Kaufman; J B Harley; J P Atkinson
Journal:  Genes Immun       Date:  2011-01-27       Impact factor: 2.676

4.  TREX1 gene variant in neuropsychiatric systemic lupus erythematosus.

Authors:  B de Vries; G M Steup-Beekman; J Haan; E L Bollen; J Luyendijk; R R Frants; G M Terwindt; M A van Buchem; T W J Huizinga; A M J M van den Maagdenberg; M D Ferrari
Journal:  Ann Rheum Dis       Date:  2009-10-28       Impact factor: 19.103

Review 5.  Cadasil.

Authors:  Hugues Chabriat; Anne Joutel; Martin Dichgans; Elizabeth Tournier-Lasserve; Marie-Germaine Bousser
Journal:  Lancet Neurol       Date:  2009-07       Impact factor: 44.182

6.  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

7.  Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 are associated with systemic lupus erythematosus.

Authors:  Min Ae Lee-Kirsch; Maolian Gong; Dipanjan Chowdhury; Lydia Senenko; Kerstin Engel; Young-Ae Lee; Udesh de Silva; Suzanna L Bailey; Torsten Witte; Timothy J Vyse; Juha Kere; Christiane Pfeiffer; Scott Harvey; Andrew Wong; Sari Koskenmies; Oliver Hummel; Klaus Rohde; Reinhold E Schmidt; Anna F Dominiczak; Manfred Gahr; Thomas Hollis; Fred W Perrino; Judy Lieberman; Norbert Hübner
Journal:  Nat Genet       Date:  2007-07-29       Impact factor: 38.330

8.  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
  8 in total
  8 in total

Review 1.  Monogenic causes of stroke: now and the future.

Authors:  Rhea Y Y Tan; Hugh S Markus
Journal:  J Neurol       Date:  2015-06-03       Impact factor: 4.849

Review 2.  Heritable and non-heritable uncommon causes of stroke.

Authors:  A Bersano; M Kraemer; A Burlina; M Mancuso; J Finsterer; S Sacco; C Salvarani; L Caputi; H Chabriat; S Lesnik Oberstein; A Federico; E Tournier Lasserve; D Hunt; M Dichgans; M Arnold; S Debette; H S Markus
Journal:  J Neurol       Date:  2020-04-21       Impact factor: 4.849

Review 3.  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

Review 4.  Neuroinflammation Associated With Inborn Errors of Immunity.

Authors:  Hannes Lindahl; Yenan T Bryceson
Journal:  Front Immunol       Date:  2022-01-19       Impact factor: 7.561

5.  Genetic analysis reveals novel variants for vascular cognitive impairment.

Authors:  Saana Mönkäre; Liina Kuuluvainen; Johanna Schleutker; Jose Bras; Susanna Roine; Minna Pöyhönen; Rita Guerreiro; Liisa Myllykangas
Journal:  Acta Neurol Scand       Date:  2022-03-20       Impact factor: 3.915

6.  Genotype-Phenotype Correlation and Functional Insights for Two Monoallelic TREX1 Missense Variants Affecting the Catalytic Core.

Authors:  Giulia Amico; Wayne O Hemphill; Mariasavina Severino; Claudio Moratti; Rosario Pascarella; Marta Bertamino; Flavia Napoli; Stefano Volpi; Francesca Rosamilia; Sara Signa; Fred Perrino; Marialuisa Zedde; Isabella Ceccherini
Journal:  Genes (Basel)       Date:  2022-06-30       Impact factor: 4.141

7.  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

8.  Rare variants of the 3'-5' DNA exonuclease TREX1 in early onset small vessel stroke.

Authors:  Hugh S Markus; Cathie Sudlow; David P J Hunt; Sarah McGlasson; Kristiina Rannikmäe; Steven Bevan; Clare Logan; Louise S Bicknell; Alexa Jury; Andrew P Jackson
Journal:  Wellcome Open Res       Date:  2017-11-02
  8 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.