BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

135 related articles for article (PubMed ID: 23085273)

  • 1. Mutational analysis of TYR gene and its structural consequences in OCA1A.
    K B; Purohit R
    Gene; 2013 Jan; 513(1):184-95. PubMed ID: 23085273
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Mutational analysis of oculocutaneous albinism: a compact review.
    Kamaraj B; Purohit R
    Biomed Res Int; 2014; 2014():905472. PubMed ID: 25093188
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Functional validation of the albinism-associated tyrosinase T373K SNP by CRISPR/Cas9-mediated homology-directed repair (HDR) in rabbits.
    Song Y; Zhang Y; Chen M; Deng J; Sui T; Lai L; Li Z
    EBioMedicine; 2018 Oct; 36():517-525. PubMed ID: 30274819
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Mutations of the human tyrosinase gene associated with tyrosinase related oculocutaneous albinism (OCA1). Mutations in brief no. 204. Online.
    Oetting WS; Fryer JP; King RA
    Hum Mutat; 1998; 12(6):433-4. PubMed ID: 10671066
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Molecular basis of type I (tyrosinase-related) oculocutaneous albinism: mutations and polymorphisms of the human tyrosinase gene.
    Oetting WS; King RA
    Hum Mutat; 1993; 2(1):1-6. PubMed ID: 8477259
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Detection of 53 novel DNA variations within the tyrosinase gene and accumulation of mutations in 17 patients with albinism.
    Opitz S; Käsmann-Kellner B; Kaufmann M; Schwinger E; Zühlke C
    Hum Mutat; 2004 Jun; 23(6):630-1. PubMed ID: 15146472
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Generation and characterization of retinal pigment epithelium from patient iPSC line to model oculocutaneous albinism (OCA)1A disease.
    Subramani J; Patlolla N; Battu R; Saiyed T; Pal R
    J Biosci; 2024; 49():. PubMed ID: 38287676
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Mutation analysis of the tyrosinase gene in oculocutaneous albinism.
    Camand O; Marchant D; Boutboul S; Péquignot M; Odent S; Dollfus H; Sutherland J; Levin A; Menasche M; Marsac C; Dufier JL; Heon E; Abitbol M
    Hum Mutat; 2001 Apr; 17(4):352. PubMed ID: 11295837
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Determination of variants in the 3'-region of the tyrosinase gene requires locus specific amplification.
    Chaki M; Mukhopadhyay A; Ray K
    Hum Mutat; 2005 Jul; 26(1):53-8. PubMed ID: 15895460
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Non-random distribution of missense mutations within the human tyrosinase gene in type I (tyrosinase-related) oculocutaneous albinism.
    King RA; Mentink MM; Oetting WS
    Mol Biol Med; 1991 Feb; 8(1):19-29. PubMed ID: 1943686
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Variation in the tyrosinase gene associated with a white humpback whale (Megaptera novaeangliae).
    Polanowski AM; Robinson-Laverick SM; Paton D; Jarman SN
    J Hered; 2012; 103(1):130-3. PubMed ID: 22140253
    [TBL] [Abstract][Full Text] [Related]  

  • 12. [An overview of oculocutaneous albinism: TYR gene mutations in five Colombian individuals].
    Sanabria D; Groot H; Guzmán J; Lattig MC
    Biomedica; 2012 Jun; 32(2):269-76. PubMed ID: 23242301
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Functional assessment of tyrosinase variants identified in individuals with albinism is essential for unequivocal determination of genotype-to-phenotype correlation.
    Mondal M; Sengupta M; Ray K
    Br J Dermatol; 2016 Dec; 175(6):1232-1242. PubMed ID: 27537549
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Oculocutaneous albinism type 1: link between mutations, tyrosinase conformational stability, and enzymatic activity.
    Dolinska MB; Kus NJ; Farney SK; Wingfield PT; Brooks BP; Sergeev YV
    Pigment Cell Melanoma Res; 2017 Jan; 30(1):41-52. PubMed ID: 27775880
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Mutations of the tyrosinase gene in three Korean patients with type I oculocutaneous albinism.
    Park KC; Park SK; Lee YS; Youn SW; Park BS; Kim KH; Lee ST
    Jpn J Hum Genet; 1996 Sep; 41(3):299-305. PubMed ID: 8996965
    [TBL] [Abstract][Full Text] [Related]  

  • 16. The tyrosinase gene and oculocutaneous albinism type 1 (OCA1): A model for understanding the molecular biology of melanin formation.
    Oetting WS
    Pigment Cell Res; 2000 Oct; 13(5):320-5. PubMed ID: 11041207
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Oculocutaneous albinism type 1A: a case report.
    Karaman A
    Dermatol Online J; 2008 Nov; 14(11):13. PubMed ID: 19094851
    [TBL] [Abstract][Full Text] [Related]  

  • 18. [Study of tyrosinase gene mutation in oculocutaneous albinism type 1 patients].
    Zheng H; Huang ZG; Wen RQ; Li HY
    Zhongguo Ying Yong Sheng Li Xue Za Zhi; 2011 Aug; 27(3):329-32. PubMed ID: 22097729
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Genetic analysis of oculocutaneous albinism type 1 (OCA1) in Indian families: two novel frameshift mutations in the TYR Gene.
    Sundaresan P; Sil AK; Philp AR; Randolph MA; Natchiar G; Namperumalsamy P
    Mol Vis; 2004 Dec; 10():1005-10. PubMed ID: 15635296
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Higher prevalence of OCA1 in an ethnic group of eastern India is due to a founder mutation in the tyrosinase gene.
    Chaki M; Mukhopadhyay A; Chatterjee S; Das M; Samanta S; Ray K
    Mol Vis; 2005 Jul; 11():531-4. PubMed ID: 16056219
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.