BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

186 related articles for article (PubMed ID: 37914688)

  • 1. Prph2 knock-in mice recapitulate human central areolar choroidal dystrophy retinal degeneration and exhibit aberrant synaptic remodeling and microglial activation.
    Ruiz-Pastor MJ; Sánchez-Sáez X; Kutsyr O; Albertos-Arranz H; Sánchez-Castillo C; Ortuño-Lizarán I; Martínez-Gil N; Vidal-Gil L; Méndez L; Sánchez-Martín M; Maneu V; Lax P; Cuenca N
    Cell Death Dis; 2023 Nov; 14(11):711. PubMed ID: 37914688
    [TBL] [Abstract][Full Text] [Related]  

  • 2. A monogenic dominant mutation in Rom1 generated by N-ethyl-N-nitrosourea mutagenesis causes retinal degeneration in mice.
    Sato H; Suzuki T; Ikeda K; Masuya H; Sezutsu H; Kaneda H; Kobayashi K; Miura I; Kurihara Y; Yokokura S; Nishida K; Tamai M; Gondo Y; Noda T; Wakana S
    Mol Vis; 2010 Mar; 16():378-91. PubMed ID: 20300562
    [TBL] [Abstract][Full Text] [Related]  

  • 3. A novel mutation in Prph2, a gene regulated by Nr2e3, causes retinal degeneration and outer-segment defects similar to Nr2e3 ( rd7/rd7 ) retinas.
    Nystuen AM; Sachs AJ; Yuan Y; Heuermann L; Haider NB
    Mamm Genome; 2008 Sep; 19(9):623-33. PubMed ID: 18763016
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Retinal Structure and Function in a Knock-in Mouse Model for the
    Matsevich C; Gopalakrishnan P; Obolensky A; Banin E; Sharon D; Beryozkin A
    Ophthalmol Sci; 2023 Mar; 3(1):100229. PubMed ID: 36420180
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Phenotypic variability and long-term follow-up of patients with known and novel PRPH2/RDS gene mutations.
    Renner AB; Fiebig BS; Weber BH; Wissinger B; Andreasson S; Gal A; Cropp E; Kohl S; Kellner U
    Am J Ophthalmol; 2009 Mar; 147(3):518-530.e1. PubMed ID: 19038374
    [TBL] [Abstract][Full Text] [Related]  

  • 6. ROM1 contributes to phenotypic heterogeneity in PRPH2-associated retinal disease.
    Strayve D; Makia MS; Kakakhel M; Sakthivel H; Conley SM; Al-Ubaidi MR; Naash MI
    Hum Mol Genet; 2020 Sep; 29(16):2708-2722. PubMed ID: 32716032
    [TBL] [Abstract][Full Text] [Related]  

  • 7.
    Coco-Martin RM; Sanchez-Tocino HT; Desco C; Usategui-Martín R; Tellería JJ
    Genes (Basel); 2020 Jul; 11(7):. PubMed ID: 32660024
    [TBL] [Abstract][Full Text] [Related]  

  • 8. [Slow retinal degeneration in a mouse model: morphological and functional aspects].
    Sobienieckil A; Machalińska A; Rogińska D; Baranowska-Bosiacka I; Wiszniewska B; Machaliński B
    Pomeranian J Life Sci; 2015; 61(1):81-9. PubMed ID: 27116862
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Rom1 converts Y141C-Prph2-associated pattern dystrophy to retinitis pigmentosa.
    Conley SM; Stuck MW; Watson JN; Naash MI
    Hum Mol Genet; 2017 Feb; 26(3):509-518. PubMed ID: 28053051
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Retinal degeneration in humanized mice expressing mutant rhodopsin under the control of the endogenous murine promoter.
    Liu X; Jia R; Meng X; Li Y; Yang L
    Exp Eye Res; 2022 Feb; 215():108893. PubMed ID: 34919893
    [TBL] [Abstract][Full Text] [Related]  

  • 11. The K153Del PRPH2 mutation differentially impacts photoreceptor structure and function.
    Chakraborty D; Conley SM; Zulliger R; Naash MI
    Hum Mol Genet; 2016 Aug; 25(16):3500-3514. PubMed ID: 27365499
    [TBL] [Abstract][Full Text] [Related]  

  • 12. High-Resolution Adaptive Optics Retinal Image Analysis at Early Stage Central Areolar Choroidal Dystrophy With PRPH2 Mutation.
    Gocho K; Akeo K; Itoh N; Kameya S; Hayashi T; Katagiri S; Gekka T; Ohkuma Y; Tsuneoka H; Takahashi H
    Ophthalmic Surg Lasers Imaging Retina; 2016 Dec; 47(12):1115-1126. PubMed ID: 27977834
    [TBL] [Abstract][Full Text] [Related]  

  • 13. PRPH2-Associated Macular Dystrophy in 4 Family Members with a Novel Mutation.
    Choi H; Cloutier A; Lally D
    Ophthalmic Genet; 2022 Apr; 43(2):235-239. PubMed ID: 34906036
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Autosomal Dominant Retinal Dystrophies Caused by a Founder Splice Site Mutation, c.828+3A>T, in PRPH2 and Protein Haplotypes in trans as Modifiers.
    Shankar SP; Hughbanks-Wheaton DK; Birch DG; Sullivan LS; Conneely KN; Bowne SJ; Stone EM; Daiger SP
    Invest Ophthalmol Vis Sci; 2016 Feb; 57(2):349-59. PubMed ID: 26842753
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Retbindin: A riboflavin Binding Protein, Is Critical for Photoreceptor Homeostasis and Survival in Models of Retinal Degeneration.
    Genc AM; Makia MS; Sinha T; Conley SM; Al-Ubaidi MR; Naash MI
    Int J Mol Sci; 2020 Oct; 21(21):. PubMed ID: 33138244
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Late-onset pattern macular dystrophy mimicking
    Ma CJ; Lee W; Stong N; Zernant J; Chang S; Goldstein D; Nagasaki T; Allikmets R
    Cold Spring Harb Mol Case Stud; 2019 Jun; 5(3):. PubMed ID: 30630813
    [TBL] [Abstract][Full Text] [Related]  

  • 17. The Interplay between Peripherin 2 Complex Formation and Degenerative Retinal Diseases.
    Tebbe L; Kakakhel M; Makia MS; Al-Ubaidi MR; Naash MI
    Cells; 2020 Mar; 9(3):. PubMed ID: 32213850
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Clinical findings in a multigeneration family with autosomal dominant central areolar choroidal dystrophy associated with an Arg195Leu mutation in the peripherin/RDS gene.
    Keilhauer CN; Meigen T; Weber BH
    Arch Ophthalmol; 2006 Jul; 124(7):1020-7. PubMed ID: 16832026
    [TBL] [Abstract][Full Text] [Related]  

  • 19.
    Daftarian N; Mirrahimi M; Sabbaghi H; Moghadasi A; Zal N; Dehghan Banadaki H; Ahmadieh H; Suri F
    Ophthalmic Genet; 2019 Oct; 40(5):436-442. PubMed ID: 31618092
    [No Abstract]   [Full Text] [Related]  

  • 20. Phenotypic Differences in a
    Albertos-Arranz H; Sánchez-Sáez X; Martínez-Gil N; Pinilla I; Coco-Martin RM; Delgado J; Cuenca N
    Diagnostics (Basel); 2021 Apr; 11(5):. PubMed ID: 33925984
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.