Warning: Undefined array key "mm" in /www/wwwroot/www.ai-bt.com/si.php on line 10 Deprecated: trim(): Passing null to parameter #1 ($string) of type string is deprecated in /www/wwwroot/www.ai-bt.com/si.php on line 10 Human disease phenotypes associated with mutations in TREX1.

Literature DB >> 25731743

Human disease phenotypes associated with mutations in TREX1.

Gillian I Rice¹, Mathieu P Rodero, Yanick J Crow.

Abstract

Considering that it is a single exon gene encoding a 314 amino acid protein, the genotype-phenotype landscape of TREX1 is remarkably complex. Here we briefly describe the human diseases so-far associated with mutations in TREX1, which include Aicardi-Goutières syndrome, familial chilblain lupus, systemic lupus erythematosus and retinal vasculopathy with cerebral leukodystrophy.

Entities: Disease Gene Species

Mesh：

Substances：

Year: 2015 PMID： 25731743 DOI： 10.1007/s10875-015-0147-3

Source DB: PubMed Journal: J Clin Immunol ISSN： 0271-9142 Impact factor: 8.317

75 in total

1. Host DNase TREX1 hides HIV from DNA sensors.

Authors: Teunis B H Geijtenbeek
Journal: Nat Immunol Date: 2010-11 Impact factor: 25.606

2. A TREX1 mutation causing cerebral vasculopathy in a patient with familial chilblain lupus.

Authors: Kazuo Yamashiro; Ryota Tanaka; Yuanzhe Li; Michitaka Mikasa; Nobutaka Hattori
Journal: J Neurol Date: 2013-08-30 Impact factor: 4.849

3. Aicardi-Goutières syndrome harbours abundant systemic and brain-reactive autoantibodies.

Authors: Eloy Cuadrado; Adeline Vanderver; Kristy J Brown; Annie Sandza; Asako Takanohashi; Machiel H Jansen; Jasper Anink; Brian Herron; Simona Orcesi; Ivana Olivieri; Gillian I Rice; Eleonora Aronica; Pierre Lebon; Yanick J Crow; Elly M Hol; Taco W Kuijpers
Journal: Ann Rheum Dis Date: 2014-06-06 Impact factor: 19.103

4. A de novo p.Asp18Asn mutation in TREX1 in a patient with Aicardi-Goutières syndrome.

Authors: Charlotte A Haaxma; Yanick J Crow; Maurice A M van Steensel; Martin M Y Lammens; Gillian I Rice; Marcel M Verbeek; Michèl A A P Willemsen
Journal: Am J Med Genet A Date: 2010-10 Impact factor: 2.802

5. 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

6. Mutations in ADAR1, IFIH1, and RNASEH2B presenting as spastic paraplegia.

Authors: Yanick J Crow; Maha S Zaki; Mohamed S Abdel-Hamid; Ghada Abdel-Salam; Odile Boespflug-Tanguy; Nuno J V Cordeiro; Joseph G Gleeson; Nirmala Rani Gowrinathan; Vincent Laugel; Florence Renaldo; Diana Rodriguez; John H Livingston; Gillian I Rice
Journal: Neuropediatrics Date: 2014-09-22 Impact factor: 1.947

7. Trex1 prevents cell-intrinsic initiation of autoimmunity.

Authors: Daniel B Stetson; Joan S Ko; Thierry Heidmann; Ruslan Medzhitov
Journal: Cell Date: 2008-08-22 Impact factor: 41.582

8. Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.

Authors: Yanick J Crow; Diana S Chase; Johanna Lowenstein Schmidt; Marcin Szynkiewicz; Gabriella M A Forte; Hannah L Gornall; Anthony Oojageer; Beverley Anderson; Amy Pizzino; Guy Helman; Mohamed S Abdel-Hamid; Ghada M Abdel-Salam; Sam Ackroyd; Alec Aeby; Guillermo Agosta; Catherine Albin; Stavit Allon-Shalev; Montse Arellano; Giada Ariaudo; Vijay Aswani; Riyana Babul-Hirji; Eileen M Baildam; Nadia Bahi-Buisson; Kathryn M Bailey; Christine Barnerias; Magalie Barth; Roberta Battini; Michael W Beresford; Geneviève Bernard; Marika Bianchi; Thierry Billette de Villemeur; Edward M Blair; Miriam Bloom; Alberto B Burlina; Maria Luisa Carpanelli; Daniel R Carvalho; Manuel Castro-Gago; Anna Cavallini; Cristina Cereda; Kate E Chandler; David A Chitayat; Abigail E Collins; Concepcion Sierra Corcoles; Nuno J V Cordeiro; Giovanni Crichiutti; Lyvia Dabydeen; Russell C Dale; Stefano D'Arrigo; Christian G E L De Goede; Corinne De Laet; Liesbeth M H De Waele; Ines Denzler; Isabelle Desguerre; Koenraad Devriendt; Maja Di Rocco; Michael C Fahey; Elisa Fazzi; Colin D Ferrie; António Figueiredo; Blanca Gener; Cyril Goizet; Nirmala R Gowrinathan; Kalpana Gowrishankar; Donncha Hanrahan; Bertrand Isidor; Bülent Kara; Nasaim Khan; Mary D King; Edwin P Kirk; Ram Kumar; Lieven Lagae; Pierre Landrieu; Heinz Lauffer; Vincent Laugel; Roberta La Piana; Ming J Lim; Jean-Pierre S-M Lin; Tarja Linnankivi; Mark T Mackay; Daphna R Marom; Charles Marques Lourenço; Shane A McKee; Isabella Moroni; Jenny E V Morton; Marie-Laure Moutard; Kevin Murray; Rima Nabbout; Sheela Nampoothiri; Noemi Nunez-Enamorado; Patrick J Oades; Ivana Olivieri; John R Ostergaard; Belén Pérez-Dueñas; Julie S Prendiville; Venkateswaran Ramesh; Magnhild Rasmussen; Luc Régal; Federica Ricci; Marlène Rio; Diana Rodriguez; Agathe Roubertie; Elisabetta Salvatici; Karin A Segers; Gyanranjan P Sinha; Doriette Soler; Ronen Spiegel; Tommy I Stödberg; Rachel Straussberg; Kathryn J Swoboda; Mohnish Suri; Uta Tacke; Tiong Y Tan; Johann te Water Naude; Keng Wee Teik; Maya Mary Thomas; Marianne Till; Davide Tonduti; Enza Maria Valente; Rudy Noel Van Coster; Marjo S van der Knaap; Grace Vassallo; Raymon Vijzelaar; Julie Vogt; Geoffrey B Wallace; Evangeline Wassmer; Hannah J Webb; William P Whitehouse; Robyn N Whitney; Maha S Zaki; Sameer M Zuberi; John H Livingston; Flore Rozenberg; Pierre Lebon; Adeline Vanderver; Simona Orcesi; Gillian I Rice
Journal: Am J Med Genet A Date: 2015-01-16 Impact factor: 2.802

9. Clinical and molecular phenotype of Aicardi-Goutieres syndrome.

Authors: Gillian Rice; Teresa Patrick; Rekha Parmar; Claire F Taylor; Alec Aeby; Jean Aicardi; Rafael Artuch; Simon Attard Montalto; Carlos A Bacino; Bruno Barroso; Peter Baxter; Willam S Benko; Carsten Bergmann; Enrico Bertini; Roberta Biancheri; Edward M Blair; Nenad Blau; David T Bonthron; Tracy Briggs; Louise A Brueton; Han G Brunner; Christopher J Burke; Ian M Carr; Daniel R Carvalho; Kate E Chandler; Hans-Jurgen Christen; Peter C Corry; Frances M Cowan; Helen Cox; Stefano D'Arrigo; John Dean; Corinne De Laet; Claudine De Praeter; Catherine Dery; Colin D Ferrie; Kim Flintoff; Suzanna G M Frints; Angels Garcia-Cazorla; Blanca Gener; Cyril Goizet; Francoise Goutieres; Andrew J Green; Agnes Guet; Ben C J Hamel; Bruce E Hayward; Arvid Heiberg; Raoul C Hennekam; Marie Husson; Andrew P Jackson; Rasieka Jayatunga; Yong-Hui Jiang; Sarina G Kant; Amy Kao; Mary D King; Helen M Kingston; Joerg Klepper; Marjo S van der Knaap; Andrew J Kornberg; Dieter Kotzot; Wilfried Kratzer; Didier Lacombe; Lieven Lagae; Pierre Georges Landrieu; Giovanni Lanzi; Andrea Leitch; Ming J Lim; John H Livingston; Charles M Lourenco; E G Hermione Lyall; Sally A Lynch; Michael J Lyons; Daphna Marom; John P McClure; Robert McWilliam; Serge B Melancon; Leena D Mewasingh; Marie-Laure Moutard; Ken K Nischal; John R Ostergaard; Julie Prendiville; Magnhild Rasmussen; R Curtis Rogers; Dominique Roland; Elisabeth M Rosser; Kevin Rostasy; Agathe Roubertie; Amparo Sanchis; Raphael Schiffmann; Sabine Scholl-Burgi; Sunita Seal; Stavit A Shalev; C Sierra Corcoles; Gyan P Sinha; Doriette Soler; Ronen Spiegel; John B P Stephenson; Uta Tacke; Tiong Yang Tan; Marianne Till; John L Tolmie; Pam Tomlin; Federica Vagnarelli; Enza Maria Valente; Rudy N A Van Coster; Nathalie Van der Aa; Adeline Vanderver; Johannes S H Vles; Thomas Voit; Evangeline Wassmer; Bernhard Weschke; Margo L Whiteford; Michel A A Willemsen; Andreas Zankl; Sameer M Zuberi; Simona Orcesi; Elisa Fazzi; Pierre Lebon; Yanick J Crow
Journal: Am J Hum Genet Date: 2007-09-04 Impact factor: 11.025

10. Rare variants in the TREX1 gene and susceptibility to autoimmune diseases.

Authors: Nadia Barizzone; Sara Monti; Simona Mellone; Michela Godi; Maurizio Marchini; Raffaella Scorza; Maria G Danieli; Sandra D'Alfonso
Journal: Biomed Res Int Date: 2013-10-09 Impact factor: 3.411

68 in total

1. 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

2. Aicardi goutières syndrome is associated with pulmonary hypertension.

Authors: Laura A Adang; David B Frank; Ahmed Gilani; Asako Takanohashi; Nicole Ulrick; Abigail Collins; Zachary Cross; Csaba Galambos; Guy Helman; Usama Kanaan; Stephanie Keller; Dawn Simon; Omar Sherbini; Brian D Hanna; Adeline L Vanderver
Journal: Mol Genet Metab Date: 2018-09-07 Impact factor: 4.797

3. Developmental Outcomes of Aicardi Goutières Syndrome.

Authors: Laura Adang; Francesco Gavazzi; Micaela De Simone; Elisa Fazzi; Jessica Galli; Jamie Koh; Julia Kramer-Golinkoff; Valentina De Giorgis; Simona Orcesi; Kyle Peer; Nicole Ulrick; Sarah Woidill; Justine Shults; Adeline Vanderver
Journal: J Child Neurol Date: 2019-09-27 Impact factor: 1.987

4. Measuring TREX1 and TREX2 exonuclease activities.

Authors: Wayne O Hemphill; Fred W Perrino
Journal: Methods Enzymol Date: 2019-06-08 Impact factor: 1.600

Review 5. [Familial chilblain lupus : Type 1 interferonopathy with model character].

Authors: C Fiehn
Journal: Z Rheumatol Date: 2017-05 Impact factor: 1.372

6. STING differentially regulates experimental GVHD mediated by CD8 versus CD4 T cell subsets.

Authors: Cameron S Bader; Henry Barreras; Casey O Lightbourn; Sabrina N Copsel; Dietlinde Wolf; Jingjing Meng; Jeonghyun Ahn; Krishna V Komanduri; Bruce R Blazar; Lei Jin; Glen N Barber; Sabita Roy; Robert B Levy
Journal: Sci Transl Med Date: 2020-07-15 Impact factor: 17.956