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Journal Abstract Search

164 related items for PubMed ID: 35886051

  • 1. A Novel Hypothesis on Choroideremia-Manifesting Female Carriers: Could CHM In-Frame Variants Exert a Dominant Negative Effect? A Case Report.
    Di Giosaffatte N, Valiante M, Tricarico S, Parise G, De Negri AM, Ricciotti G, Florean L, Paiardini A, Bottillo I, Grammatico P.
    Genes (Basel); 2022 Jul 17; 13(7):. PubMed ID: 35886051
    [Abstract] [Full Text] [Related]

  • 2. Whole-exome sequencing reveals a novel CHM gene mutation in a family with choroideremia initially diagnosed as retinitis pigmentosa.
    Guo H, Li J, Gao F, Li J, Wu X, Liu Q.
    BMC Ophthalmol; 2015 Jul 28; 15():85. PubMed ID: 26216097
    [Abstract] [Full Text] [Related]

  • 3. Comprehensive mutation analysis (20 families) of the choroideremia gene reveals a missense variant that prevents the binding of REP1 with Rab geranylgeranyl transferase.
    Esposito G, De Falco F, Tinto N, Testa F, Vitagliano L, Tandurella IC, Iannone L, Rossi S, Rinaldi E, Simonelli F, Zagari A, Salvatore F.
    Hum Mutat; 2011 Dec 28; 32(12):1460-9. PubMed ID: 21905166
    [Abstract] [Full Text] [Related]

  • 4. Single choroideremia gene in nonmammalian vertebrates explains early embryonic lethality of the zebrafish model of choroideremia.
    Moosajee M, Tulloch M, Baron RA, Gregory-Evans CY, Pereira-Leal JB, Seabra MC.
    Invest Ophthalmol Vis Sci; 2009 Jun 28; 50(6):3009-16. PubMed ID: 19117920
    [Abstract] [Full Text] [Related]

  • 5. Expression of Rab Prenylation Pathway Genes and Relation to Disease Progression in Choroideremia.
    Fry LE, Patrício MI, Jolly JK, Xue K, MacLaren RE.
    Transl Vis Sci Technol; 2021 Jul 01; 10(8):12. PubMed ID: 34254989
    [Abstract] [Full Text] [Related]

  • 6. Pathogenicity of a novel missense variant associated with choroideremia and its impact on gene replacement therapy.
    Torriano S, Erkilic N, Faugère V, Damodar K, Hamel CP, Roux AF, Kalatzis V.
    Hum Mol Genet; 2017 Sep 15; 26(18):3573-3584. PubMed ID: 28911202
    [Abstract] [Full Text] [Related]

  • 7. CHM/REP1 cDNA delivery by lentiviral vectors provides functional expression of the transgene in the retinal pigment epithelium of choroideremia mice.
    Tolmachova T, Tolmachov OE, Wavre-Shapton ST, Tracey-White D, Futter CE, Seabra MC.
    J Gene Med; 2012 Mar 15; 14(3):158-68. PubMed ID: 22228595
    [Abstract] [Full Text] [Related]

  • 8. Functional expression of Rab escort protein 1 following AAV2-mediated gene delivery in the retina of choroideremia mice and human cells ex vivo.
    Tolmachova T, Tolmachov OE, Barnard AR, de Silva SR, Lipinski DM, Walker NJ, Maclaren RE, Seabra MC.
    J Mol Med (Berl); 2013 Jul 15; 91(7):825-37. PubMed ID: 23756766
    [Abstract] [Full Text] [Related]

  • 9. Autofluorescence in female carriers with choroideremia: A familial case with a novel mutation in the CHM gene.
    Ortiz-Ramirez GY, Villanueva-Mendoza C, Zenteno Ruiz JC, Reyes M, Cortés-González V.
    Ophthalmic Genet; 2020 Dec 15; 41(6):625-628. PubMed ID: 32835561
    [Abstract] [Full Text] [Related]

  • 10. Gene Augmentation of CHM Using Non-Viral Episomal Vectors in Models of Choroideremia.
    Toualbi L, Toms M, Almeida PV, Harbottle R, Moosajee M.
    Int J Mol Sci; 2023 Oct 16; 24(20):. PubMed ID: 37894906
    [Abstract] [Full Text] [Related]

  • 11. Functional rescue of REP1 following treatment with PTC124 and novel derivative PTC-414 in human choroideremia fibroblasts and the nonsense-mediated zebrafish model.
    Moosajee M, Tracey-White D, Smart M, Weetall M, Torriano S, Kalatzis V, da Cruz L, Coffey P, Webster AR, Welch E.
    Hum Mol Genet; 2016 Aug 15; 25(16):3416-3431. PubMed ID: 27329764
    [Abstract] [Full Text] [Related]

  • 12. Choroideremia: molecular mechanisms and therapies.
    Sarkar H, Moosajee M.
    Trends Mol Med; 2022 May 15; 28(5):378-387. PubMed ID: 35341685
    [Abstract] [Full Text] [Related]

  • 13. REP1 deficiency causes systemic dysfunction of lipid metabolism and oxidative stress in choroideremia.
    Cunha DL, Richardson R, Tracey-White D, Abbouda A, Mitsios A, Horneffer-van der Sluis V, Takis P, Owen N, Skinner J, Welch AA, Moosajee M.
    JCI Insight; 2021 May 10; 6(9):. PubMed ID: 33755601
    [Abstract] [Full Text] [Related]

  • 14. A frameshift mutation in the CHM gene causes choroideremia with acute angle‑closure glaucoma.
    Ouyang P, Li Y, Zhang F, Zhu C, Zou B, Le J, Zhang L.
    Mol Med Rep; 2018 Jun 10; 17(6):7918-7924. PubMed ID: 29620233
    [Abstract] [Full Text] [Related]

  • 15. Adeno-Associated Viral Gene Therapy for Inherited Retinal Disease.
    Ong T, Pennesi ME, Birch DG, Lam BL, Tsang SH.
    Pharm Res; 2019 Jan 07; 36(2):34. PubMed ID: 30617669
    [Abstract] [Full Text] [Related]

  • 16. Progression of retinal pigment epithelial alterations during long-term follow-up in female carriers of choroideremia and report of a novel CHM mutation.
    Renner AB, Fiebig BS, Cropp E, Weber BH, Kellner U.
    Arch Ophthalmol; 2009 Jul 07; 127(7):907-12. PubMed ID: 19597113
    [Abstract] [Full Text] [Related]

  • 17. Molecular Characterization of Choroideremia-Associated Deletions Reveals an Unexpected Regulation of CHM Gene Transcription.
    Fioretti T, Di Iorio V, Lombardo B, De Falco F, Cevenini A, Cattaneo F, Testa F, Pastore L, Simonelli F, Esposito G.
    Genes (Basel); 2021 Jul 22; 12(8):. PubMed ID: 34440285
    [Abstract] [Full Text] [Related]

  • 18. Retinal dystrophy and subretinal drusenoid deposits in female choroideremia carriers.
    Murro V, Mucciolo DP, Passerini I, Palchetti S, Sodi A, Virgili G, Rizzo S.
    Graefes Arch Clin Exp Ophthalmol; 2017 Nov 22; 255(11):2099-2111. PubMed ID: 28752371
    [Abstract] [Full Text] [Related]

  • 19. Atypical choroideremia presenting with early-onset macular atrophy.
    Kontos G, Kwan J, Xue K, Patrício MI, Clouston P, Packham E, MacLaren RE, Downes SM.
    Acta Ophthalmol; 2019 Sep 22; 97(6):633-636. PubMed ID: 30690895
    [Abstract] [Full Text] [Related]

  • 20. Choroideremia: molecular mechanisms and development of AAV gene therapy.
    Patrício MI, Barnard AR, Xue K, MacLaren RE.
    Expert Opin Biol Ther; 2018 Jul 22; 18(7):807-820. PubMed ID: 29932012
    [Abstract] [Full Text] [Related]

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