BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

141 related articles for article (PubMed ID: 31566446)

  • 1. A Novel Mutation p.S93R in CRYBB1 Associated with Dominant Congenital Cataract and Microphthalmia.
    Jin A; Zhang Y; Xiao D; Xiang M; Jin K; Zeng M
    Curr Eye Res; 2020 Apr; 45(4):483-489. PubMed ID: 31566446
    [No Abstract]   [Full Text] [Related]  

  • 2. A novel mutation in CRYBB1 associated with congenital cataract-microcornea syndrome: the p.Ser129Arg mutation destabilizes the βB1/βA3-crystallin heteromer but not the βB1-crystallin homomer.
    Wang KJ; Wang S; Cao NQ; Yan YB; Zhu SQ
    Hum Mutat; 2011 Mar; 32(3):E2050-60. PubMed ID: 21972112
    [TBL] [Abstract][Full Text] [Related]  

  • 3. A novel missense mutation of
    Ji Y; Zhao X; Zhang J; Zhang D; Tian C; Zhang L; Zhao Y; Zhao J
    Eur J Ophthalmol; 2021 May; 31(3):1064-1069. PubMed ID: 32223445
    [TBL] [Abstract][Full Text] [Related]  

  • 4. A novel nonsense mutation in CRYBB1 associated with autosomal dominant congenital cataract.
    Yang J; Zhu Y; Gu F; He X; Cao Z; Li X; Tong Y; Ma X
    Mol Vis; 2008 Apr; 14():727-31. PubMed ID: 18432316
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Mutations in crystallin genes result in congenital cataract associated with other ocular abnormalities.
    Sun Z; Zhou Q; Li H; Yang L; Wu S; Sui R
    Mol Vis; 2017; 23():977-986. PubMed ID: 29386872
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Novel Mutation in
    Zin OA; Neves LM; Motta FL; Horovitz DDG; Guida L; Gomes LHF; Cunha DP; Rodrigues APS; Zin AA; Sallum JMF; Vasconcelos ZFM
    Genes (Basel); 2021 Jul; 12(7):. PubMed ID: 34356085
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Novel beta-crystallin gene mutations in Chinese families with nuclear cataracts.
    Wang KJ; Wang BB; Zhang F; Zhao Y; Ma X; Zhu SQ
    Arch Ophthalmol; 2011 Mar; 129(3):337-43. PubMed ID: 21402992
    [TBL] [Abstract][Full Text] [Related]  

  • 8. A novel truncation mutation in
    Rao Y; Dong S; Li Z; Yang G; Peng C; Yan M; Zheng F
    Mol Vis; 2017; 23():624-637. PubMed ID: 28928627
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Initiation codon mutation in betaB1-crystallin (CRYBB1) associated with autosomal recessive nuclear pulverulent cataract.
    Meyer E; Rahman F; Owens J; Pasha S; Morgan NV; Trembath RC; Stone EM; Moore AT; Maher ER
    Mol Vis; 2009 May; 15():1014-9. PubMed ID: 19461930
    [TBL] [Abstract][Full Text] [Related]  

  • 10. [Mutation analysis of CRYBB1 gene and prenatal diagnosis for a Chinese kindred featuring autosomal dominant congenital nuclear cataract].
    Wu Q; Shi H; Liu N; Lu N; Jiang M; Zhao Z; Kong X
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2013 Jun; 30(3):266-9. PubMed ID: 23744311
    [TBL] [Abstract][Full Text] [Related]  

  • 11. A missense mutation S228P in the CRYBB1 gene causes autosomal dominant congenital cataract.
    Wang J; Ma X; Gu F; Liu NP; Hao XL; Wang KJ; Wang NL; Zhu SQ
    Chin Med J (Engl); 2007 May; 120(9):820-4. PubMed ID: 17531125
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Identification and characterization of six β-crystallin gene mutations associated with congenital cataract in Chinese families.
    Yu Y; Qiao Y; Ye Y; Li J; Yao K
    Mol Genet Genomic Med; 2021 Mar; 9(3):e1617. PubMed ID: 33594837
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Homozygous CRYBB1 deletion mutation underlies autosomal recessive congenital cataract.
    Cohen D; Bar-Yosef U; Levy J; Gradstein L; Belfair N; Ofir R; Joshua S; Lifshitz T; Carmi R; Birk OS
    Invest Ophthalmol Vis Sci; 2007 May; 48(5):2208-13. PubMed ID: 17460281
    [TBL] [Abstract][Full Text] [Related]  

  • 14. A novel mutation in the CRYAA gene associated with congenital cataract and microphthalmia in a Chinese family.
    Song Z; Si N; Xiao W
    BMC Med Genet; 2018 Oct; 19(1):190. PubMed ID: 30340470
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Identification of a novel CRYBB2 missense mutation causing congenital autosomal dominant cataract.
    Weisschuh N; Aisenbrey S; Wissinger B; Riess A
    Mol Vis; 2012; 18():174-80. PubMed ID: 22312185
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Identification of a De Novo 3bp Deletion in CRYBA1/A3 Gene in Autosomal Dominant Congenital Cataract.
    Mohebi M; Akbari A; Babaei N; Sadeghi A; Heidari M
    Acta Med Iran; 2016 Dec; 54(12):778-783. PubMed ID: 28120589
    [TBL] [Abstract][Full Text] [Related]  

  • 17. A nonsense mutation in CRYBB1 associated with autosomal dominant cataract linked to human chromosome 22q.
    Mackay DS; Boskovska OB; Knopf HL; Lampi KJ; Shiels A
    Am J Hum Genet; 2002 Nov; 71(5):1216-21. PubMed ID: 12360425
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Congenital microcornea-cataract syndrome-causing mutation X253R increases βB1-crystallin hydrophobicity to promote aggregate formation.
    Leng XY; Li HY; Wang J; Qi LB; Xi YB; Yan YB
    Biochem J; 2016 Jul; 473(14):2087-96. PubMed ID: 27208166
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Characterization of a novel mutation in the CRYBB2 gene associated with autosomal dominant congenital posterior subcapsular cataract in a Chinese family.
    Yao K; Li J; Jin C; Wang W; Zhu Y; Shentu X; Wang Q
    Mol Vis; 2011 Jan; 17():144-52. PubMed ID: 21245961
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Partial duplication of the CRYBB1-CRYBA4 locus is associated with autosomal dominant congenital cataract.
    Siggs OM; Javadiyan S; Sharma S; Souzeau E; Lower KM; Taranath DA; Black J; Pater J; Willoughby JG; Burdon KP; Craig JE
    Eur J Hum Genet; 2017 Jun; 25(6):711-718. PubMed ID: 28272538
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.