BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

283 related articles for article (PubMed ID: 17525175)

  • 1. Coexpression and interaction of wild-type and missense RS1 mutants associated with X-linked retinoschisis: its relevance to gene therapy.
    Dyka FM; Molday RS
    Invest Ophthalmol Vis Sci; 2007 Jun; 48(6):2491-7. PubMed ID: 17525175
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Expression of X-linked retinoschisis protein RS1 in photoreceptor and bipolar cells.
    Molday LL; Hicks D; Sauer CG; Weber BH; Molday RS
    Invest Ophthalmol Vis Sci; 2001 Mar; 42(3):816-25. PubMed ID: 11222545
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Wild-type and missense mutants of retinoschisin co-assemble resulting in either intracellular retention or incorrect assembly of the functionally active octamer.
    Gleghorn LJ; Trump D; Bulleid NJ
    Biochem J; 2009 Dec; 425(1):275-83. PubMed ID: 19849666
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Molecular pathology of X linked retinoschisis: mutations interfere with retinoschisin secretion and oligomerisation.
    Wang T; Zhou A; Waters CT; O'Connor E; Read RJ; Trump D
    Br J Ophthalmol; 2006 Jan; 90(1):81-6. PubMed ID: 16361673
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Pathomechanism of mutated and secreted retinoschisin in X-linked juvenile retinoschisis.
    Plössl K; Schmid V; Straub K; Schmid C; Ammon M; Merkl R; Weber BHF; Friedrich U
    Exp Eye Res; 2018 Dec; 177():23-34. PubMed ID: 30040949
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Prolonged recovery of retinal structure/function after gene therapy in an Rs1h-deficient mouse model of x-linked juvenile retinoschisis.
    Min SH; Molday LL; Seeliger MW; Dinculescu A; Timmers AM; Janssen A; Tonagel F; Tanimoto N; Weber BH; Molday RS; Hauswirth WW
    Mol Ther; 2005 Oct; 12(4):644-51. PubMed ID: 16027044
    [TBL] [Abstract][Full Text] [Related]  

  • 7. RS-1 Gene Delivery to an Adult Rs1h Knockout Mouse Model Restores ERG b-Wave with Reversal of the Electronegative Waveform of X-Linked Retinoschisis.
    Zeng Y; Takada Y; Kjellstrom S; Hiriyanna K; Tanikawa A; Wawrousek E; Smaoui N; Caruso R; Bush RA; Sieving PA
    Invest Ophthalmol Vis Sci; 2004 Sep; 45(9):3279-85. PubMed ID: 15326152
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Loss of ER retention and sequestration of the wild-type ELOVL4 by Stargardt disease dominant negative mutants.
    Karan G; Yang Z; Howes K; Zhao Y; Chen Y; Cameron DJ; Lin Y; Pearson E; Zhang K
    Mol Vis; 2005 Aug; 11():657-64. PubMed ID: 16145543
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Retinoschisin forms a multi-molecular complex with extracellular matrix and cytoplasmic proteins: interactions with beta2 laminin and alphaB-crystallin.
    Steiner-Champliaud MF; Sahel J; Hicks D
    Mol Vis; 2006 Aug; 12():892-901. PubMed ID: 16917482
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Defective discoidin domain structure, subunit assembly, and endoplasmic reticulum processing of retinoschisin are primary mechanisms responsible for X-linked retinoschisis.
    Wu WW; Molday RS
    J Biol Chem; 2003 Jul; 278(30):28139-46. PubMed ID: 12746437
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Molecular mechanisms leading to null-protein product from retinoschisin (RS1) signal-sequence mutants in X-linked retinoschisis (XLRS) disease.
    Vijayasarathy C; Sui R; Zeng Y; Yang G; Xu F; Caruso RC; Lewis RA; Ziccardi L; Sieving PA
    Hum Mutat; 2010 Nov; 31(11):1251-60. PubMed ID: 20809529
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Intracellular retention of mutant retinoschisin is the pathological mechanism underlying X-linked retinoschisis.
    Wang T; Waters CT; Rothman AM; Jakins TJ; Römisch K; Trump D
    Hum Mol Genet; 2002 Nov; 11(24):3097-105. PubMed ID: 12417531
    [TBL] [Abstract][Full Text] [Related]  

  • 13. The Na/K-ATPase is obligatory for membrane anchorage of retinoschisin, the protein involved in the pathogenesis of X-linked juvenile retinoschisis.
    Friedrich U; Stöhr H; Hilfinger D; Loenhardt T; Schachner M; Langmann T; Weber BH
    Hum Mol Genet; 2011 Mar; 20(6):1132-42. PubMed ID: 21196491
    [TBL] [Abstract][Full Text] [Related]  

  • 14. CRX controls retinal expression of the X-linked juvenile retinoschisis (RS1) gene.
    Langmann T; Lai CC; Weigelt K; Tam BM; Warneke-Wittstock R; Moritz OL; Weber BH
    Nucleic Acids Res; 2008 Nov; 36(20):6523-34. PubMed ID: 18927113
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Preclinical Dose-Escalation Study of Intravitreal AAV-RS1 Gene Therapy in a Mouse Model of X-linked Retinoschisis: Dose-Dependent Expression and Improved Retinal Structure and Function.
    Bush RA; Zeng Y; Colosi P; Kjellstrom S; Hiriyanna S; Vijayasarathy C; Santos M; Li J; Wu Z; Sieving PA
    Hum Gene Ther; 2016 May; 27(5):376-89. PubMed ID: 27036983
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Understanding variable disease severity in X-linked retinoschisis: Does RS1 secretory mechanism determine disease severity?
    Sudha D; Neriyanuri S; Sachidanandam R; Natarajan SN; Gandra M; Tharigopala A; Sivashanmugam M; Alameen M; Vetrivel U; Gopal L; Khetan V; Raman R; Sen P; Chidambaram S; Arunachalam JP
    PLoS One; 2018; 13(5):e0198086. PubMed ID: 29851975
    [TBL] [Abstract][Full Text] [Related]  

  • 17. RS1, a discoidin domain-containing retinal cell adhesion protein associated with X-linked retinoschisis, exists as a novel disulfide-linked octamer.
    Wu WW; Wong JP; Kast J; Molday RS
    J Biol Chem; 2005 Mar; 280(11):10721-30. PubMed ID: 15644328
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Functional analysis of the glaucoma-causing TIGR/myocilin protein: integrity of amino-terminal coiled-coil regions and olfactomedin homology domain is essential for extracellular adhesion and secretion.
    Gobeil S; Letartre L; Raymond V
    Exp Eye Res; 2006 Jun; 82(6):1017-29. PubMed ID: 16466712
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Structural analysis of X-linked retinoschisis mutations reveals distinct classes which differentially effect retinoschisin function.
    Ramsay EP; Collins RF; Owens TW; Siebert CA; Jones RPO; Wang T; Roseman AM; Baldock C
    Hum Mol Genet; 2016 Dec; 25(24):5311-5320. PubMed ID: 27798099
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Juvenile X-linked retinoschisis with normal scotopic b-wave in the electroretinogram at an early stage of the disease.
    Eksandh L; Andréasson S; Abrahamson M
    Ophthalmic Genet; 2005 Sep; 26(3):111-7. PubMed ID: 16272055
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 15.