BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

278 related articles for article (PubMed ID: 32164076)

  • 1. [Progress in molecular mechanism of hepatolenticular degeneration induced by ATP7B gene mutation].
    Jia SY; Zhou DH; Ou XJ; Huang J
    Zhonghua Gan Zang Bing Za Zhi; 2020 Feb; 28(2):188-192. PubMed ID: 32164076
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Correlation of ATP7B genotype with phenotype in Chinese patients with Wilson disease.
    Liu XQ; Zhang YF; Liu TT; Hsiao KJ; Zhang JM; Gu XF; Bao KR; Yu LH; Wang MX
    World J Gastroenterol; 2004 Feb; 10(4):590-3. PubMed ID: 14966923
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Analysis of Wilson disease mutations revealed that interactions between different ATP7B mutants modify their properties.
    Roy S; McCann CJ; Ralle M; Ray K; Ray J; Lutsenko S; Jayakanthan S
    Sci Rep; 2020 Aug; 10(1):13487. PubMed ID: 32778786
    [TBL] [Abstract][Full Text] [Related]  

  • 4. [Genotype and phenotype correlation in Chinese patients with Wilson's Disease].
    Liu XQ; Zhang YF; Liu TT; Gu XF; Hsiao KJ; Bao KR; Yu LH
    Zhonghua Er Ke Za Zhi; 2003 Jan; 41(1):35-8. PubMed ID: 14761325
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Wilson disease: novel mutations in the ATP7B gene and clinical correlation in Brazilian patients.
    Deguti MM; Genschel J; Cancado EL; Barbosa ER; Bochow B; Mucenic M; Porta G; Lochs H; Carrilho FJ; Schmidt HH
    Hum Mutat; 2004 Apr; 23(4):398. PubMed ID: 15024742
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Functional characterization of missense mutations in ATP7B: Wilson disease mutation or normal variant?
    Forbes JR; Cox DW
    Am J Hum Genet; 1998 Dec; 63(6):1663-74. PubMed ID: 9837819
    [TBL] [Abstract][Full Text] [Related]  

  • 7. [Factors influencing the clinical phenotype of hepatolenticular degeneration].
    Xiao QQ; Wang ZX; Fan JG
    Zhonghua Gan Zang Bing Za Zhi; 2023 Feb; 31(2):207-211. PubMed ID: 37137840
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Mutation analysis of the ATP7B gene and genotype-phenotype correlation in Chinese patients with Wilson disease.
    Li M; Ma J; Wang W; Yang X; Luo K
    BMC Gastroenterol; 2021 Sep; 21(1):339. PubMed ID: 34470610
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Identification and analysis of mutations in the Wilson disease gene (ATP7B): population frequencies, genotype-phenotype correlation, and functional analyses.
    Shah AB; Chernov I; Zhang HT; Ross BM; Das K; Lutsenko S; Parano E; Pavone L; Evgrafov O; Ivanova-Smolenskaya IA; Annerén G; Westermark K; Urrutia FH; Penchaszadeh GK; Sternlieb I; Scheinberg IH; Gilliam TC; Petrukhin K
    Am J Hum Genet; 1997 Aug; 61(2):317-28. PubMed ID: 9311736
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Clinical and genetic analysis of pediatric patients with Wilson disease.
    Şimşek Papur Ö; Aşık Akman S; Terzioğlu O
    Turk J Gastroenterol; 2015 Sep; 26(5):397-403. PubMed ID: 26215059
    [TBL] [Abstract][Full Text] [Related]  

  • 11. A Novel Mutation of
    Kahraman CY; Islek A; Tatar A; Özdemir Ö; Mardinglu A; Turkez H
    Medicina (Kaunas); 2021 Jan; 57(2):. PubMed ID: 33573009
    [TBL] [Abstract][Full Text] [Related]  

  • 12. [Mutational analysis of ATP7B gene of hepatolenticular degeneration in Xinjiang region].
    Aerziguli A; Li CZ; Hu LH; Lu XB; Sun XF
    Zhonghua Gan Zang Bing Za Zhi; 2020 Aug; 28(8):699-702. PubMed ID: 32911910
    [No Abstract]   [Full Text] [Related]  

  • 13. Genetic defects in Indian Wilson disease patients and genotype-phenotype correlation.
    Mukherjee S; Dutta S; Majumdar S; Biswas T; Jaiswal P; Sengupta M; Bhattacharya A; Gangopadhyay PK; Bavdekar A; Das SK; Ray K
    Parkinsonism Relat Disord; 2014 Jan; 20(1):75-81. PubMed ID: 24094725
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Molecular pathogenesis of Wilson disease: haplotype analysis, detection of prevalent mutations and genotype-phenotype correlation in Indian patients.
    Gupta A; Aikath D; Neogi R; Datta S; Basu K; Maity B; Trivedi R; Ray J; Das SK; Gangopadhyay PK; Ray K
    Hum Genet; 2005 Oct; 118(1):49-57. PubMed ID: 16133174
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Reduced expression of ATP7B affected by Wilson disease-causing mutations is rescued by pharmacological folding chaperones 4-phenylbutyrate and curcumin.
    van den Berghe PV; Stapelbroek JM; Krieger E; de Bie P; van de Graaf SF; de Groot RE; van Beurden E; Spijker E; Houwen RH; Berger R; Klomp LW
    Hepatology; 2009 Dec; 50(6):1783-95. PubMed ID: 19937698
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Diverse functional properties of Wilson disease ATP7B variants.
    Huster D; Kühne A; Bhattacharjee A; Raines L; Jantsch V; Noe J; Schirrmeister W; Sommerer I; Sabri O; Berr F; Mössner J; Stieger B; Caca K; Lutsenko S
    Gastroenterology; 2012 Apr; 142(4):947-956.e5. PubMed ID: 22240481
    [TBL] [Abstract][Full Text] [Related]  

  • 17. ATP7B Gene Mutations in Croatian Patients with Wilson Disease.
    Ljubić H; Kalauz M; Telarović S; Ferenci P; Ostojić R; Noli MC; Lepori MB; Hrstić I; Vuković J; Premužić M; Radić D; Ravić KG; Sertić J; Merkler A; Barišić AA; Loudianos G; Vucelić B
    Genet Test Mol Biomarkers; 2016 Mar; 20(3):112-7. PubMed ID: 26799313
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Mutation analysis of the ATP7B gene and genotype/phenotype correlation in 227 patients with Wilson disease.
    Vrabelova S; Letocha O; Borsky M; Kozak L
    Mol Genet Metab; 2005; 86(1-2):277-85. PubMed ID: 15967699
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Polarized trafficking and copper transport activity of ATP7B: A mutational approach to establish genotype-phenotype correlation in Wilson disease.
    Das S; Mohammed A; Mandal T; Maji S; Verma J; Ruturaj ; Gupta A
    Hum Mutat; 2022 Oct; 43(10):1408-1429. PubMed ID: 35762218
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Sequence variation in the ATP-binding domain of the Wilson disease transporter, ATP7B, affects copper transport in a yeast model system.
    Hsi G; Cullen LM; Macintyre G; Chen MM; Glerum DM; Cox DW
    Hum Mutat; 2008 Apr; 29(4):491-501. PubMed ID: 18203200
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 14.