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Literature DB >> 23989343

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

Kazuo Yamashiro¹, Ryota Tanaka, Yuanzhe Li, Michitaka Mikasa, Nobutaka Hattori.

Abstract

Entities: Disease Gene Species

Mesh：

Substances：

Year: 2013 PMID： 23989343 DOI： 10.1007/s00415-013-7084-y

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

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11 in total

1. Inherited or de novo mutation affecting aspartate 18 of TREX1 results in either familial chilblain lupus or Aicardi-Goutières syndrome.

Authors: V Tüngler; R M Silver; H Walkenhorst; C Günther; M A Lee-Kirsch
Journal: Br J Dermatol Date: 2012-07 Impact factor: 9.302

2. Severe chilblain lupus is associated with heterozygous missense mutations of catalytic amino acids or their adjacent mutations in the exonuclease domains of 3'-repair exonuclease 1.

Authors: Kazumitsu Sugiura; Takuya Takeichi; Michihiro Kono; Yasuki Ito; Yasushi Ogawa; Yoshinao Muro; Masashi Akiyama
Journal: J Invest Dermatol Date: 2012-06-21 Impact factor: 8.551

3. Autosomal dominant inheritance of a heterozygous mutation in SAMHD1 causing familial chilblain lupus.

Authors: Jane C Ravenscroft; Mohnish Suri; Gillian I Rice; Marcin Szynkiewicz; Yanick J Crow
Journal: Am J Med Genet A Date: 2011-01 Impact factor: 2.802

4. Familial chilblain lupus, a monogenic form of cutaneous lupus erythematosus, maps to chromosome 3p.

Authors: Min Ae Lee-Kirsch; Maolian Gong; Herbert Schulz; Franz Rüschendorf; Annette Stein; Christiane Pfeiffer; Annalisa Ballarini; Manfred Gahr; Norbert Hubner; Maja Linné
Journal: Am J Hum Genet Date: 2006-08-17 Impact factor: 11.025

5. Heterozygous mutations in TREX1 cause familial chilblain lupus and dominant Aicardi-Goutieres syndrome.

Authors: Gillian Rice; William G Newman; John Dean; Teresa Patrick; Rekha Parmar; Kim Flintoff; Peter Robins; Scott Harvey; Thomas Hollis; Ann O'Hara; Ariane L Herrick; Andrew P Bowden; Fred W Perrino; Tomas Lindahl; Deborah E Barnes; Yanick J Crow
Journal: Am J Hum Genet Date: 2007-02-19 Impact factor: 11.025

6. Chilblain lupus erythematosus (Hutchinson). A clinical and laboratory study of 17 patients.

Authors: L G Millard; N R Rowell
Journal: Br J Dermatol Date: 1978-05 Impact factor: 9.302

7. 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

8. 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

9. A mutation in TREX1 that impairs susceptibility to granzyme A-mediated cell death underlies familial chilblain lupus.

Authors: Min Ae Lee-Kirsch; Dipanjan Chowdhury; Scott Harvey; Maoliang Gong; Lydia Senenko; Kerstin Engel; Christiane Pfeiffer; Thomas Hollis; Manfred Gahr; Fred W Perrino; Judy Lieberman; Norbert Hubner
Journal: J Mol Med (Berl) Date: 2007-04-18 Impact factor: 5.606

10. 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

1. Aicardi-Goutières syndrome protein TREX1 suppresses L1 and maintains genome integrity through exonuclease-independent ORF1p depletion.

Authors: Peng Li; Juan Du; John L Goodier; Jingwei Hou; Jian Kang; Haig H Kazazian; Ke Zhao; Xiao-Fang Yu
Journal: Nucleic Acids Res Date: 2017-05-05 Impact factor: 16.971

Review 2. 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

3. [Genetics of lupus erythematosus].

Authors: Claudia Günther
Journal: Hautarzt Date: 2015-02 Impact factor: 0.751

4. TREX-1-Related Disease Associated with the Presence of Cryofibrinogenemia.

Authors: C Paradis; M Cadieux-Dion; C Meloche; M Gravel; J Paradis; A Des Roches; G Leclerc; P Cossette; P Begin
Journal: J Clin Immunol Date: 2019-01-26 Impact factor: 8.317

Review 5. Central nervous system manifestations of monogenic autoinflammatory disorders and the neurotropic features of SARS-CoV-2: Drawing the parallels.

Authors: Thomas Renson; Lorraine Hamiwka; Susanne Benseler
Journal: Front Pediatr Date: 2022-08-10 Impact factor: 3.569