BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

160 related articles for article (PubMed ID: 38516801)

  • 1. A recessive
    Reith RR; Batt MC; Fuller AM; Meekins JM; Diehl KA; Zhou Y; Bedwell PS; Ward JA; Sanders SK; Petersen JL; Steffen DJ
    J Vet Diagn Invest; 2024 May; 36(3):438-446. PubMed ID: 38516801
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Loss of CLN3, the gene mutated in juvenile neuronal ceroid lipofuscinosis, leads to metabolic impairment and autophagy induction in retinal pigment epithelium.
    Zhong Y; Mohan K; Liu J; Al-Attar A; Lin P; Flight RM; Sun Q; Warmoes MO; Deshpande RR; Liu H; Jung KS; Mitov MI; Lin N; Butterfield DA; Lu S; Liu J; Moseley HNB; Fan TWM; Kleinman ME; Wang QJ
    Biochim Biophys Acta Mol Basis Dis; 2020 Oct; 1866(10):165883. PubMed ID: 32592935
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Profound infantile neuroretinal dysfunction in a heterozygote for the CLN3 genetic defect.
    de los Reyes E; Dyken PR; Phillips P; Brodsky M; Bates S; Glasier C; Mrak RE
    J Child Neurol; 2004 Jan; 19(1):42-6. PubMed ID: 15032383
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Novel homozygous CLN3 missense variant in isolated retinal dystrophy: A case report and electron microscopic findings.
    Mizobuchi K; Hayashi T; Yoshitake K; Fujinami K; Tachibana T; Tsunoda K; Iwata T; Nakano T
    Mol Genet Genomic Med; 2020 Aug; 8(8):e1308. PubMed ID: 32441891
    [TBL] [Abstract][Full Text] [Related]  

  • 5. A novel deletion variant in CLN3 with highly variable expressivity is responsible for juvenile neuronal ceroid lipofuscinoses.
    Gilani N; Razmara E; Ozaslan M; Abdulzahra IK; Arzhang S; Tavasoli AR; Garshasbi M
    Acta Neurol Belg; 2021 Jun; 121(3):737-748. PubMed ID: 33783722
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Clinical and molecular characterization of non-syndromic retinal dystrophy due to c.175G>A mutation in ceroid lipofuscinosis neuronal 3 (CLN3).
    Chen FK; Zhang X; Eintracht J; Zhang D; Arunachalam S; Thompson JA; Chelva E; Mallon D; Chen SC; McLaren T; Lamey T; De Roach J; McLenachan S
    Doc Ophthalmol; 2019 Feb; 138(1):55-70. PubMed ID: 30446867
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Large-scale phenotyping of an accurate genetic mouse model of JNCL identifies novel early pathology outside the central nervous system.
    Staropoli JF; Haliw L; Biswas S; Garrett L; Hölter SM; Becker L; Skosyrski S; Da Silva-Buttkus P; Calzada-Wack J; Neff F; Rathkolb B; Rozman J; Schrewe A; Adler T; Puk O; Sun M; Favor J; Racz I; Bekeredjian R; Busch DH; Graw J; Klingenspor M; Klopstock T; Wolf E; Wurst W; Zimmer A; Lopez E; Harati H; Hill E; Krause DS; Guide J; Dragileva E; Gale E; Wheeler VC; Boustany RM; Brown DE; Breton S; Ruether K; Gailus-Durner V; Fuchs H; de Angelis MH; Cotman SL
    PLoS One; 2012; 7(6):e38310. PubMed ID: 22701626
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Protracted course of juvenile ceroid lipofuscinosis associated with a novel CLN3 mutation (p.Y199X).
    Sarpong A; Schottmann G; Rüther K; Stoltenburg G; Kohlschütter A; Hübner C; Schuelke M
    Clin Genet; 2009 Jul; 76(1):38-45. PubMed ID: 19489875
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Immunomodulation with minocycline rescues retinal degeneration in juvenile neuronal ceroid lipofuscinosis mice highly susceptible to light damage.
    Dannhausen K; Möhle C; Langmann T
    Dis Model Mech; 2018 Sep; 11(9):. PubMed ID: 30042155
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Histopathologic and immunocytochemical analysis of the retina and ocular tissues in Batten disease.
    Bensaoula T; Shibuya H; Katz ML; Smith JE; Johnson GS; John SK; Milam AH
    Ophthalmology; 2000 Sep; 107(9):1746-53. PubMed ID: 10964839
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Cln3-mutations underlying juvenile neuronal ceroid lipofuscinosis cause significantly reduced levels of Palmitoyl-protein thioesterases-1 (Ppt1)-protein and Ppt1-enzyme activity in the lysosome.
    Appu AP; Bagh MB; Sadhukhan T; Mondal A; Casey S; Mukherjee AB
    J Inherit Metab Dis; 2019 Sep; 42(5):944-954. PubMed ID: 31025705
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Retinal pathology and function in a Cln3 knockout mouse model of juvenile Neuronal Ceroid Lipofuscinosis (batten disease).
    Seigel GM; Lotery A; Kummer A; Bernard DJ; Greene ND; Turmaine M; Derksen T; Nussbaum RL; Davidson B; Wagner J; Mitchison HM
    Mol Cell Neurosci; 2002 Apr; 19(4):515-27. PubMed ID: 11988019
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Retinal Phenotype of Patients With Isolated Retinal Degeneration Due to CLN3 Pathogenic Variants in a French Retinitis Pigmentosa Cohort.
    Smirnov VM; Nassisi M; Solis Hernandez C; Méjécase C; El Shamieh S; Condroyer C; Antonio A; Meunier I; Andrieu C; Defoort-Dhellemmes S; Mohand-Said S; Sahel JA; Audo I; Zeitz C
    JAMA Ophthalmol; 2021 Mar; 139(3):278-291. PubMed ID: 33507216
    [TBL] [Abstract][Full Text] [Related]  

  • 14. A novel in-frame mutation in
    Sher M; Farooq M; Abdullah U; Ali Z; Faryal S; Zakaria M; Ullah F; Bukhari H; Møller RS; Tommerup N; Baig SM
    Int J Neurosci; 2019 Sep; 129(9):890-895. PubMed ID: 30892110
    [No Abstract]   [Full Text] [Related]  

  • 15. Juvenile neuronal ceroid lipofuscinosis (Batten disease) CLN3 mutation (Chrom 16p11.2) with different phenotypes in a sibling pair and low intensity in vivo autofluorescence.
    Mantel I; Brantley MA; Bellmann C; Robson AG; Holder GE; Taylor A; Anderson G; Moore AT
    Klin Monbl Augenheilkd; 2004 May; 221(5):427-30. PubMed ID: 15162299
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Transcript and in silico analysis of CLN3 in juvenile neuronal ceroid lipofuscinosis and associated mouse models.
    Chan CH; Mitchison HM; Pearce DA
    Hum Mol Genet; 2008 Nov; 17(21):3332-9. PubMed ID: 18678598
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Detailed Clinical Phenotype and Molecular Genetic Findings in CLN3-Associated Isolated Retinal Degeneration.
    Ku CA; Hull S; Arno G; Vincent A; Carss K; Kayton R; Weeks D; Anderson GW; Geraets R; Parker C; Pearce DA; Michaelides M; MacLaren RE; Robson AG; Holder GE; Heon E; Raymond FL; Moore AT; Webster AR; Pennesi ME
    JAMA Ophthalmol; 2017 Jul; 135(7):749-760. PubMed ID: 28542676
    [TBL] [Abstract][Full Text] [Related]  

  • 18. A novel c.1135_1138delCTGT mutation in CLN3 leads to juvenile neuronal ceroid lipofuscinosis.
    Drack AV; Miller JN; Pearce DA
    J Child Neurol; 2013 Sep; 28(9):1112-6. PubMed ID: 23877479
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Self-Complementary AAV9 Gene Delivery Partially Corrects Pathology Associated with Juvenile Neuronal Ceroid Lipofuscinosis (CLN3).
    Bosch ME; Aldrich A; Fallet R; Odvody J; Burkovetskaya M; Schuberth K; Fitzgerald JA; Foust KD; Kielian T
    J Neurosci; 2016 Sep; 36(37):9669-82. PubMed ID: 27629717
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Novel CLN3 mutation predicted to cause complete loss of protein function does not modify the classical JNCL phenotype.
    Kwon JM; Rothberg PG; Leman AR; Weimer JM; Mink JW; Pearce DA
    Neurosci Lett; 2005 Oct; 387(2):111-4. PubMed ID: 16087292
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.