BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

121 related articles for article (PubMed ID: 33626495)

  • 21. Natural history of cone disease in the murine model of Leber congenital amaurosis due to CEP290 mutation: determining the timing and expectation of therapy.
    Boye SE; Huang WC; Roman AJ; Sumaroka A; Boye SL; Ryals RC; Olivares MB; Ruan Q; Tucker BA; Stone EM; Swaroop A; Cideciyan AV; Hauswirth WW; Jacobson SG
    PLoS One; 2014; 9(3):e92928. PubMed ID: 24671090
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Generation of induced pluripotent stem cell line carrying frameshift variants in NPHP1 (UCSFi001-A-68) using CRISPR/Cas9.
    Dyke E; Bijnagte-Schoenmaker C; Wu KM; Oudakker A; Roepman R; Nadif Kasri N
    Stem Cell Res; 2023 Apr; 68():103053. PubMed ID: 36842376
    [TBL] [Abstract][Full Text] [Related]  

  • 23. CEP290, a gene with many faces: mutation overview and presentation of CEP290base.
    Coppieters F; Lefever S; Leroy BP; De Baere E
    Hum Mutat; 2010 Oct; 31(10):1097-108. PubMed ID: 20690115
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Generation of two isogenic knockout PKD2 iPS cell lines, IRFMNi003-A-1 and IRFMNi003-A-2, using CRISPR/Cas9 technology.
    Trionfini P; Ciampi O; Romano E; Benigni A; Tomasoni S
    Stem Cell Res; 2020 Jan; 42():101667. PubMed ID: 31830647
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Generation of a heterozygous SCN5A knockout human induced pluripotent stem cell line by CRISPR/Cas9 edition.
    Gizon M; Duboscq-Bidot L; El Kassar L; Bobin P; Ader F; Giraud-Triboult K; Charron P; Villard E; Fontaine V; Neyroud N
    Stem Cell Res; 2022 Apr; 60():102680. PubMed ID: 35093717
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Pathogenic NPHP5 mutations impair protein interaction with Cep290, a prerequisite for ciliogenesis.
    Barbelanne M; Song J; Ahmadzai M; Tsang WY
    Hum Mol Genet; 2013 Jun; 22(12):2482-94. PubMed ID: 23446637
    [TBL] [Abstract][Full Text] [Related]  

  • 27. [The Phenotypic Spectrum of Ophthalmic Changes in CEP290 Mutations].
    Preising MN; Schneider U; Friedburg C; Gruber H; Lindner S; Lorenz B
    Klin Monbl Augenheilkd; 2019 Mar; 236(3):244-252. PubMed ID: 30897646
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Generation of a TLR7 homozygous knockout human induced pluripotent stem cell line using CRISPR/Cas9.
    Han HJ; Seo HH; Han HW; Kim JH
    Stem Cell Res; 2019 Oct; 40():101520. PubMed ID: 31445394
    [TBL] [Abstract][Full Text] [Related]  

  • 29. The ciliopathy gene product Cep290 is required for primary cilium formation and microtubule network organization.
    Firat-Karalar EN
    Turk J Biol; 2018; 42(5):371-381. PubMed ID: 30930621
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Ciliopathy-associated protein CEP290 modifies the severity of retinal degeneration due to loss of RPGR.
    Rao KN; Zhang W; Li L; Ronquillo C; Baehr W; Khanna H
    Hum Mol Genet; 2016 May; 25(10):2005-2012. PubMed ID: 26936822
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Genetic correction of concurrent α- and β-thalassemia patient-derived pluripotent stem cells by the CRISPR-Cas9 technology.
    Li L; Yi H; Liu Z; Long P; Pan T; Huang Y; Li Y; Li Q; Ma Y
    Stem Cell Res Ther; 2022 Mar; 13(1):102. PubMed ID: 35255977
    [TBL] [Abstract][Full Text] [Related]  

  • 32. CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290.
    Gorden NT; Arts HH; Parisi MA; Coene KL; Letteboer SJ; van Beersum SE; Mans DA; Hikida A; Eckert M; Knutzen D; Alswaid AF; Ozyurek H; Dibooglu S; Otto EA; Liu Y; Davis EE; Hutter CM; Bammler TK; Farin FM; Dorschner M; Topçu M; Zackai EH; Rosenthal P; Owens KN; Katsanis N; Vincent JB; Hildebrandt F; Rubel EW; Raible DW; Knoers NV; Chance PF; Roepman R; Moens CB; Glass IA; Doherty D
    Am J Hum Genet; 2008 Nov; 83(5):559-71. PubMed ID: 18950740
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Mutations of the CEP290 gene encoding a centrosomal protein cause Meckel-Gruber syndrome.
    Frank V; den Hollander AI; Brüchle NO; Zonneveld MN; Nürnberg G; Becker C; Du Bois G; Kendziorra H; Roosing S; Senderek J; Nürnberg P; Cremers FP; Zerres K; Bergmann C
    Hum Mutat; 2008 Jan; 29(1):45-52. PubMed ID: 17705300
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Generation of a PPM1A-deficient human induced pluripotent stem cell line using CRISPR-Cas9 technology.
    Guo X; Zhao K; Zhang Y; Zhou T; Pan G
    Stem Cell Res; 2024 Jun; 77():103420. PubMed ID: 38643711
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Super-resolution microscopy reveals photoreceptor-specific subciliary location and function of ciliopathy-associated protein CEP290.
    Potter VL; Moye AR; Robichaux MA; Wensel TG
    JCI Insight; 2021 Oct; 6(20):. PubMed ID: 34520396
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Description of Two Siblings with Apparently Severe CEP290 Mutations and Unusually Mild Retinal Disease Unrelated to Basal Exon Skipping or Nonsense-Associated Altered Splicing.
    Barny I; Perrault I; Rio M; Dollfus H; Defoort-Dhellemmes S; Kaplan J; Rozet JM; Gerard X
    Adv Exp Med Biol; 2019; 1185():189-195. PubMed ID: 31884610
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Primary cilia biogenesis and associated retinal ciliopathies.
    Chen HY; Kelley RA; Li T; Swaroop A
    Semin Cell Dev Biol; 2021 Feb; 110():70-88. PubMed ID: 32747192
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Unexpected CEP290 mRNA splicing in a humanized knock-in mouse model for Leber congenital amaurosis.
    Garanto A; van Beersum SE; Peters TA; Roepman R; Cremers FP; Collin RW
    PLoS One; 2013; 8(11):e79369. PubMed ID: 24223178
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Ocular and extra-ocular features of patients with Leber congenital amaurosis and mutations in CEP290.
    Yzer S; Hollander AI; Lopez I; Pott JW; de Faber JT; Cremers FP; Koenekoop RK; van den Born LI
    Mol Vis; 2012; 18():412-25. PubMed ID: 22355252
    [TBL] [Abstract][Full Text] [Related]  

  • 40. A CEP290 C-Terminal Domain Complements the Mutant CEP290 of Rd16 Mice In Trans and Rescues Retinal Degeneration.
    Mookherjee S; Chen HY; Isgrig K; Yu W; Hiriyanna S; Levron R; Li T; Colosi P; Chien W; Swaroop A; Wu Z
    Cell Rep; 2018 Oct; 25(3):611-623.e6. PubMed ID: 30332642
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 7.