Similar articles for PMID: 29941221

Year	Number of Results
2006	1
2007	7
2008	6
2009	4
2010	6
2011	3
2012	1
2013	10
2014	8
2015	15
2016	13
2017	19
2018	18
2019	17
2020	21
2021	21
2022	14
2023	6
2024	1

1

TREX1 Mutation Causing Autosomal Dominant Thrombotic Microangiopathy and CKD-A Novel Presentation.

Gulati A, Bale AE, Dykas DJ, Bia MJ, Danovitch GM, Moeckel GW, Somlo S, Dahl NK. Gulati A, et al. Am J Kidney Dis. 2018 Dec;72(6):895-899. doi: 10.1053/j.ajkd.2018.05.006. Epub 2018 Jun 22. Am J Kidney Dis. 2018. PMID: 29941221 Review.

2

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

DiFrancesco JC, Novara F, Zuffardi O, Forlino A, Gioia R, Cossu F, Bolognesi M, Andreoni S, Saracchi E, Frigeni B, Stellato T, Tolnay M, Winkler DT, Remida P, Isimbaldi G, Ferrarese C. DiFrancesco JC, et al. Neurol Sci. 2015 Feb;36(2):323-30. doi: 10.1007/s10072-014-1944-9. Epub 2014 Sep 12. Neurol Sci. 2015. PMID: 25213617

3

[Retinal vasculopathy with cerebral leukoencephalopathy carrying TREX1 mutation diagnosed by the intracranial calcification: a case report].

Komaki R, Ueda T, Tsuji Y, Miyawaki T, Kusuhara S, Hara S, Toda T. Komaki R, et al. Rinsho Shinkeigaku. 2018 Feb 28;58(2):111-117. doi: 10.5692/clinicalneurol.cn-001096. Epub 2018 Jan 31. Rinsho Shinkeigaku. 2018. PMID: 29386495 Japanese.

4

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

Vodopivec I, Oakley DH, Perugino CA, Venna N, Hedley-Whyte ET, Stone JH. Vodopivec I, et al. Ann Neurol. 2016 Apr;79(4):507-19. doi: 10.1002/ana.24583. Epub 2016 Mar 7. Ann Neurol. 2016. PMID: 26691497 Free PMC article.

5

DNase-active TREX1 frame-shift mutants induce serologic autoimmunity in mice.

Sakai T, Miyazaki T, Shin DM, Kim YS, Qi CF, Fariss R, Munasinghe J, Wang H, Kovalchuk AL, Kothari PH, Fermaintt CS, Atkinson JP, Perrino FW, Yan N, Morse HC 3rd. Sakai T, et al. J Autoimmun. 2017 Jul;81:13-23. doi: 10.1016/j.jaut.2017.03.001. Epub 2017 Mar 18. J Autoimmun. 2017. PMID: 28325644 Free PMC article.

6

Measuring TREX1 and TREX2 exonuclease activities.

Hemphill WO, Perrino FW. Hemphill WO, et al. Methods Enzymol. 2019;625:109-133. doi: 10.1016/bs.mie.2019.05.004. Epub 2019 Jun 8. Methods Enzymol. 2019. PMID: 31455522 Free PMC article.

7

Retinal Vasculopathy With Cerebral Leukodystrophy: Clinicopathologic Features of an Autopsied Patient With a Heterozygous TREX 1 Mutation.

Saito R, Nozaki H, Kato T, Toyoshima Y, Tanaka H, Tsubata Y, Morioka T, Horikawa Y, Oyanagi K, Morita T, Onodera O, Kakita A. Saito R, et al. J Neuropathol Exp Neurol. 2019 Feb 1;78(2):181-186. doi: 10.1093/jnen/nly115. J Neuropathol Exp Neurol. 2019. PMID: 30561700

8

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

Richards A, van den Maagdenberg AM, Jen JC, Kavanagh D, Bertram P, Spitzer D, Liszewski MK, Barilla-Labarca ML, Terwindt GM, Kasai Y, McLellan M, Grand MG, Vanmolkot KR, de Vries B, Wan J, Kane MJ, Mamsa H, Schäfer R, Stam AH, Haan J, de Jong PT, Storimans CW, van Schooneveld MJ, Oosterhuis JA, Gschwendter A, Dichgans M, Kotschet KE, Hodgkinson S, Hardy TA, Delatycki MB, Hajj-Ali RA, Kothari PH, Nelson SF, Frants RR, Baloh RW, Ferrari MD, Atkinson JP. Richards A, et al. Nat Genet. 2007 Sep;39(9):1068-70. doi: 10.1038/ng2082. Epub 2007 Jul 29. Nat Genet. 2007. PMID: 17660820

9

TREX1 Mutation Causing Autosomal Dominant Thrombotic Microangiopathy and CKD Is in Fact a Case of RVCL-S Presenting With Renal Features.

de Boer I, van den Maagdenberg AMJM, Terwindt GM. de Boer I, et al. Am J Kidney Dis. 2019 Jun;73(6):893. doi: 10.1053/j.ajkd.2018.12.041. Epub 2019 Mar 4. Am J Kidney Dis. 2019. PMID: 30846258 No abstract available.

10

In Reply to 'TREX1 Mutation Causing Autosomal Dominant Thrombotic Microangiopathy and CKD Is in Fact a Case of RVCL-S Presenting With Renal Features'.

Gulati A, Dahl N. Gulati A, et al. Am J Kidney Dis. 2019 Jun;73(6):893-894. doi: 10.1053/j.ajkd.2019.01.014. Epub 2019 Mar 4. Am J Kidney Dis. 2019. PMID: 30846257 No abstract available.

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