231 related articles for article (PubMed ID: 35763513)
1. Analysis of Wilson disease mutations in copper binding domain of ATP7B gene.
Gul B; Firasat S; Tehreem R; Shan T; Afshan K
PLoS One; 2022; 17(6):e0269833. PubMed ID: 35763513
[TBL] [Abstract][Full Text] [Related]
2. Genetic and Clinical Analysis in a Cohort of Patients with Wilson's Disease in Southwestern China.
Liu Y; Zhou H; Guo H; Bai Y
Arch Med Res; 2015 Feb; 46(2):164-9. PubMed ID: 25704634
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. [Phenotypes and ATP7B gene variants in 316 children with Wilson disease].
Lu ZK; Cheng J; Li SM; Lin YT; Zhang W; Li XZ; Sheng HY; Mao XJ; Mei HF; Zheng RD; Liang CL; Jiang MY; Huang YL; Liu L; Zeng CH
Zhonghua Er Ke Za Zhi; 2022 Apr; 60(4):317-322. PubMed ID: 35385937
[No Abstract] [Full Text] [Related]
5. Disturbed copper transport in humans. Part 2: mutations of the ATP7B gene lead to Wilson disease (WD).
Seidel J; Caca K; Schwab SG; Berr F; Wildenauer DB; Mentzel HJ; Horn N; Kauf E
Cell Mol Biol (Noisy-le-grand); 2001; 47 Online Pub():OL149-57. PubMed ID: 11936861
[TBL] [Abstract][Full Text] [Related]
6. Frameshift and nonsense mutations in the gene for ATPase7B are associated with severe impairment of copper metabolism and with an early clinical manifestation of Wilson's disease.
Gromadzka G; Schmidt HH; Genschel J; Bochow B; Rodo M; Tarnacka B; Litwin T; Chabik G; Członkowska A
Clin Genet; 2005 Dec; 68(6):524-32. PubMed ID: 16283883
[TBL] [Abstract][Full Text] [Related]
7. Screening for mutations in ATP7B gene using conformation-sensitive gel electrophoresis in a family with Wilson's disease.
Sundaresan S; Eapen CE; Shaji RV; Chandy M; Kurian G; Chandy G
Med Sci Monit; 2007 Mar; 13(3):CS38-40. PubMed ID: 17325640
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. [Wilson disease: an update].
Seo JK
Korean J Hepatol; 2006 Sep; 12(3):333-63. PubMed ID: 16998287
[TBL] [Abstract][Full Text] [Related]
10. Characterization of mutation spectrum and identification of novel mutations in ATP7B gene from a cohort of Wilson disease patients: Functional and therapeutic implications.
Kumari N; Kumar A; Thapa BR; Modi M; Pal A; Prasad R
Hum Mutat; 2018 Dec; 39(12):1926-1941. PubMed ID: 30120852
[TBL] [Abstract][Full Text] [Related]
11. [Phenotype and genotype analysis of 55 children patients with Wilson's disease].
Zhou XY; Yin HX; Wang CL; Liu ZF; Zheng BX; Jin Y
Zhonghua Gan Zang Bing Za Zhi; 2020 Jul; 28(7):603-607. PubMed ID: 32791797
[No Abstract] [Full Text] [Related]
12. 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]
13. Mutational analysis of ATP7B gene and the genotype-phenotype correlation in patients with Wilson's disease in Serbia.
Tomić A; Dobricić V; Novaković I; Svetel M; Pekmezović T; Kresojević N; Potrebić A; Kostić VS
Vojnosanit Pregl; 2013 May; 70(5):457-62. PubMed ID: 23789284
[TBL] [Abstract][Full Text] [Related]
14. p.H1069Q mutation in ATP7B and biochemical parameters of copper metabolism and clinical manifestation of Wilson's disease.
Gromadzka G; Schmidt HH; Genschel J; Bochow B; Rodo M; Tarnacka B; Litwin T; Chabik G; Członkowska A
Mov Disord; 2006 Feb; 21(2):245-8. PubMed ID: 16211609
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. Direct sequencing of mutations in the copper-transporting P-type adenosine triphosphate (ATP7B) gene for diagnosis and pathogenesis of Wilson's disease.
Zhang DF; Teng JF
Genet Mol Res; 2016 Sep; 15(3):. PubMed ID: 27706781
[TBL] [Abstract][Full Text] [Related]
17. ATP7B mutations in families in a predominantly Southern Indian cohort of Wilson's disease patients.
Santhosh S; Shaji RV; Eapen CE; Jayanthi V; Malathi S; Chandy M; Stanley M; Selvi S; Kurian G; Chandy GM
Indian J Gastroenterol; 2006; 25(6):277-82. PubMed ID: 17264425
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. Whole-exome sequencing identifies novel pathogenic variants across the ATP7B gene and some modifiers of Wilson's disease phenotype.
Kluska A; Kulecka M; Litwin T; Dziezyc K; Balabas A; Piatkowska M; Paziewska A; Dabrowska M; Mikula M; Kaminska D; Wiernicka A; Socha P; Czlonkowska A; Ostrowski J
Liver Int; 2019 Jan; 39(1):177-186. PubMed ID: 30230192
[TBL] [Abstract][Full Text] [Related]
20. A novel gross deletion and breakpoint junction sequence analysis of ATP7B in a Chinese family with Wilson disease using next‑generation sequencing and Sanger sequencing.
Liu WL; Li F; Liu L; Chen W; He ZX; Gu H; Ai R
Mol Med Rep; 2020 Jan; 21(1):517-523. PubMed ID: 31746411
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]