BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

221 related articles for article (PubMed ID: 38824133)

  • 1. Inherited C-terminal TREX1 variants disrupt homology-directed repair to cause senescence and DNA damage phenotypes in Drosophila, mice, and humans.
    Chauvin SD; Ando S; Holley JA; Sugie A; Zhao FR; Poddar S; Kato R; Miner CA; Nitta Y; Krishnamurthy SR; Saito R; Ning Y; Hatano Y; Kitahara S; Koide S; Stinson WA; Fu J; Surve N; Kumble L; Qian W; Polishchuk O; Andhey PS; Chiang C; Liu G; Colombeau L; Rodriguez R; Manel N; Kakita A; Artyomov MN; Schultz DC; Coates PT; Roberson EDO; Belkaid Y; Greenberg RA; Cherry S; Gack MU; Hardy T; Onodera O; Kato T; Miner JJ
    Nat Commun; 2024 Jun; 15(1):4696. PubMed ID: 38824133
    [TBL] [Abstract][Full Text] [Related]  

  • 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
    Neurol Sci; 2015 Feb; 36(2):323-30. PubMed ID: 25213617
    [TBL] [Abstract][Full Text] [Related]  

  • 3. TREX1 is expressed by microglia in normal human brain and increases in regions affected by ischemia.
    Kothari PH; Kolar GR; Jen JC; Hajj-Ali R; Bertram P; Schmidt RE; Atkinson JP
    Brain Pathol; 2018 Nov; 28(6):806-821. PubMed ID: 30062819
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Increased Mortality and Vascular Phenotype in a Knock-In Mouse Model of Retinal Vasculopathy With Cerebral Leukoencephalopathy and Systemic Manifestations.
    Mulder IA; Rubio-Beltran E; Ibrahimi K; Dzyubachyk O; Khmelinskii A; Hoehn M; Terwindt GM; Wermer MJH; MaassenVanDenBrink A; van den Maagdenberg AMJM
    Stroke; 2020 Jan; 51(1):300-307. PubMed ID: 31805844
    [TBL] [Abstract][Full Text] [Related]  

  • 5. [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
    Rinsho Shinkeigaku; 2018 Feb; 58(2):111-117. PubMed ID: 29386495
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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
    J Neuropathol Exp Neurol; 2019 Feb; 78(2):181-186. PubMed ID: 30561700
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Phenotypic Variability in a Mexican Mestizo Family with Retinal Vasculopathy with Cerebral Leukodystrophy and TREX1 Mutation p.V235Gfs*6.
    Monroy-Jaramillo N; Cerón A; León E; Rivas V; Ochoa-Morales A; Arteaga-Alcaraz MG; Nocedal-Rustrian FC; Gallegos C; Alonso-Vilatela ME; Corona T; Flores J
    Rev Invest Clin; 2018; 70(2):68-75. PubMed ID: 29718010
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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
    Am J Kidney Dis; 2018 Dec; 72(6):895-899. PubMed ID: 29941221
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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
    J Autoimmun; 2017 Jul; 81():13-23. PubMed ID: 28325644
    [TBL] [Abstract][Full Text] [Related]  

  • 10. A 44-year-old man with eye, kidney, and brain dysfunction.
    Vodopivec I; Oakley DH; Perugino CA; Venna N; Hedley-Whyte ET; Stone JH
    Ann Neurol; 2016 Apr; 79(4):507-19. PubMed ID: 26691497
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Retinal vasculopathy with cerebral leukoencephalopathy (RVCL): A rare mimic of tumefactive MS.
    Raynowska J; Miskin DP; Pramanik B; Asiry S; Anderson T; Boockvar J; Najjar S; Harel A
    Neurology; 2018 Oct; 91(15):e1423-e1428. PubMed ID: 30194247
    [TBL] [Abstract][Full Text] [Related]  

  • 12. A homozygous NOTCH3 mutation p.R544C and a heterozygous TREX1 variant p.C99MfsX3 in a family with hereditary small vessel disease of the brain.
    Soong BW; Liao YC; Tu PH; Tsai PC; Lee IH; Chung CP; Lee YC
    J Chin Med Assoc; 2013 Jun; 76(6):319-24. PubMed ID: 23602593
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Measuring TREX1 and TREX2 exonuclease activities.
    Hemphill WO; Perrino FW
    Methods Enzymol; 2019; 625():109-133. PubMed ID: 31455522
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Novel de novo TREX1 mutation in a patient with retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations mimicking demyelinating disease.
    Macaron G; Khoury J; Hajj-Ali RA; Prayson RA; Srivastava S; Ehlers JP; Mamsa H; Liszewski MK; Jen JC; Bermel RA; Ontaneda D
    Mult Scler Relat Disord; 2021 Jul; 52():103015. PubMed ID: 34044261
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Cerebrovascular reactivity in retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations.
    Hoogeveen ES; Pelzer N; Ghariq E; van Osch MJ; Dahan A; Terwindt GM; Kruit MC
    J Cereb Blood Flow Metab; 2021 Apr; 41(4):831-840. PubMed ID: 33736510
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Neuropathology and genetics of cerebroretinal vasculopathies.
    Kolar GR; Kothari PH; Khanlou N; Jen JC; Schmidt RE; Vinters HV
    Brain Pathol; 2014 Sep; 24(5):510-8. PubMed ID: 25323666
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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
    Nat Genet; 2007 Sep; 39(9):1068-70. PubMed ID: 17660820
    [TBL] [Abstract][Full Text] [Related]  

  • 18. ER-directed TREX1 limits cGAS activation at micronuclei.
    Mohr L; Toufektchan E; von Morgen P; Chu K; Kapoor A; Maciejowski J
    Mol Cell; 2021 Feb; 81(4):724-738.e9. PubMed ID: 33476576
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Biochemical properties of mammalian TREX1 and its association with DNA replication and inherited inflammatory disease.
    Lindahl T; Barnes DE; Yang YG; Robins P
    Biochem Soc Trans; 2009 Jun; 37(Pt 3):535-8. PubMed ID: 19442247
    [TBL] [Abstract][Full Text] [Related]  

  • 20.
    ; ; . PubMed ID:
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 12.