These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

178 related articles for article (PubMed ID: 22723017)

  • 21. Mutations P51U and G122E in retinal transcription factor NRL associated with autosomal dominant and sporadic retinitis pigmentosa.
    Martinez-Gimeno M; Maseras M; Baiget M; Beneito M; Antiñolo G; Ayuso C; Carballo M
    Hum Mutat; 2001 Jun; 17(6):520. PubMed ID: 11385710
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Novel PRPF31 mutations associated with Chinese autosomal dominant retinitis pigmentosa patients.
    Xu F; Sui R; Liang X; Li H; Jiang R; Dong F
    Mol Vis; 2012; 18():3021-xxx. PubMed ID: 23288994
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Autosomal dominant retinitis pigmentosa with incomplete penetrance due to an intronic mutation of the
    Ali-Nasser T; Zayit-Soudry S; Banin E; Sharon D; Ben-Yosef T
    Mol Vis; 2022; 28():359-368. PubMed ID: 36338669
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Transcriptional regulation of PRPF31 gene expression by MSR1 repeat elements causes incomplete penetrance in retinitis pigmentosa.
    Rose AM; Shah AZ; Venturini G; Krishna A; Chakravarti A; Rivolta C; Bhattacharya SS
    Sci Rep; 2016 Jan; 6():19450. PubMed ID: 26781568
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Retinopathy mutations in the bZIP protein NRL alter phosphorylation and transcriptional activity.
    Kanda A; Friedman JS; Nishiguchi KM; Swaroop A
    Hum Mutat; 2007 Jun; 28(6):589-98. PubMed ID: 17335001
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Transcriptional expression of cis-acting and trans-acting splicing mutations cause autosomal dominant retinitis pigmentosa.
    Gamundi MJ; Hernan I; Muntanyola M; Maseras M; López-Romero P; Alvarez R; Dopazo A; Borrego S; Carballo M
    Hum Mutat; 2008 Jun; 29(6):869-78. PubMed ID: 18412284
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Dominant PRPF31 mutations are hypostatic to a recessive CNOT3 polymorphism in retinitis pigmentosa: a novel phenomenon of "linked trans-acting epistasis".
    Rose AM; Shah AZ; Venturini G; Rivolta C; Rose GE; Bhattacharya SS
    Ann Hum Genet; 2014 Jan; 78(1):62-71. PubMed ID: 24116917
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Whole exome sequencing of a dominant retinitis pigmentosa family identifies a novel deletion in PRPF31.
    Villanueva A; Willer JR; Bryois J; Dermitzakis ET; Katsanis N; Davis EE
    Invest Ophthalmol Vis Sci; 2014 Apr; 55(4):2121-9. PubMed ID: 24595387
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Autosomal dominant retinitis pigmentosa with intrafamilial variability and incomplete penetrance in two families carrying mutations in PRPF8.
    Maubaret CG; Vaclavik V; Mukhopadhyay R; Waseem NH; Churchill A; Holder GE; Moore AT; Bhattacharya SS; Webster AR
    Invest Ophthalmol Vis Sci; 2011 Dec; 52(13):9304-9. PubMed ID: 22039234
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Clinical and genetic identification of a large chinese family with autosomal dominant retinitis pigmentosa.
    Yang Y; Tian D; Lee J; Zeng J; Zhang H; Chen S; Guo H; Xiong Z; Xia K; Hu Z; Luo J
    Ophthalmic Genet; 2015 Mar; 36(1):64-9. PubMed ID: 23834559
    [TBL] [Abstract][Full Text] [Related]  

  • 31. A 112 kb deletion in chromosome 19q13.42 leads to retinitis pigmentosa.
    Rose AM; Mukhopadhyay R; Webster AR; Bhattacharya SS; Waseem NH
    Invest Ophthalmol Vis Sci; 2011 Aug; 52(9):6597-603. PubMed ID: 21715351
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Variation in retinitis pigmentosa-11 (PRPF31 or RP11) gene expression between symptomatic and asymptomatic patients with dominant RP11 mutations.
    Rivolta C; McGee TL; Rio Frio T; Jensen RV; Berson EL; Dryja TP
    Hum Mutat; 2006 Jul; 27(7):644-53. PubMed ID: 16708387
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Identification of two novel PRPF31 mutations in Chinese families with non-syndromic autosomal dominant retinitis pigmentosa.
    Cao L; Peng C; Yu J; Jiang W; Yang J
    Mol Genet Genomic Med; 2020 Dec; 8(12):e1537. PubMed ID: 33085829
    [TBL] [Abstract][Full Text] [Related]  

  • 34. A novel mutation in the PRPF31 in a North Indian adRP family with incomplete penetrance.
    Bhatia S; Goyal S; Singh IR; Singh D; Vanita V
    Doc Ophthalmol; 2018 Oct; 137(2):103-119. PubMed ID: 30099644
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Mutation of human retinal fascin gene (FSCN2) causes autosomal dominant retinitis pigmentosa.
    Wada Y; Abe T; Takeshita T; Sato H; Yanashima K; Tamai M
    Invest Ophthalmol Vis Sci; 2001 Sep; 42(10):2395-400. PubMed ID: 11527955
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Premature termination codons in PRPF31 cause retinitis pigmentosa via haploinsufficiency due to nonsense-mediated mRNA decay.
    Rio Frio T; Wade NM; Ransijn A; Berson EL; Beckmann JS; Rivolta C
    J Clin Invest; 2008 Apr; 118(4):1519-31. PubMed ID: 18317597
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Gene of the month:
    Rose AM; Luo R; Radia UK; Bhattacharya SS
    J Clin Pathol; 2017 Sep; 70(9):729-732. PubMed ID: 28663330
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Sequence variations in the retinal fascin FSCN2 gene in a Spanish population with autosomal dominant retinitis pigmentosa or macular degeneration.
    Gamundi MJ; Hernan I; Maseras M; Baiget M; Ayuso C; Borrego S; Antiñolo G; Millán JM; Valverde D; Carballo M
    Mol Vis; 2005 Nov; 11():922-8. PubMed ID: 16280978
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Identification of photoreceptor genes affected by PRPF31 mutations associated with autosomal dominant retinitis pigmentosa.
    Mordes D; Yuan L; Xu L; Kawada M; Molday RS; Wu JY
    Neurobiol Dis; 2007 May; 26(2):291-300. PubMed ID: 17350276
    [TBL] [Abstract][Full Text] [Related]  

  • 40. PRPF31 alternative splicing and expression in human retina.
    Tanackovic G; Rivolta C
    Ophthalmic Genet; 2009 Jun; 30(2):76-83. PubMed ID: 19373678
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 9.