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 *

357 related articles for article (PubMed ID: 29637721)

  • 1. Presumed missense and synonymous mutations in ATP7B gene cause exon skipping in Wilson disease.
    Wang C; Zhou W; Huang Y; Yin H; Jin Y; Jia Z; Zhang A; Liu Z; Zheng B
    Liver Int; 2018 Aug; 38(8):1504-1513. PubMed ID: 29637721
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Early-onset Wilson disease caused by
    Koboldt DC; Hickey SE; Chaudhari BP; Mihalic Mosher T; Bedrosian T; Crist E; Kaler SG; McBride K; White P; Wilson RK
    Cold Spring Harb Mol Case Stud; 2020 Jun; 6(3):. PubMed ID: 32532881
    [TBL] [Abstract][Full Text] [Related]  

  • 3. [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]  

  • 4. Synonymous mutation in adenosine triphosphatase copper-transporting beta causes enhanced exon skipping in Wilson disease.
    Panzer M; Viveiros A; Schaefer B; Baumgartner N; Seppi K; Djamshidian A; Todorov T; Griffiths WJH; Schott E; Schuelke M; Eurich D; Stättermayer AF; Bomford A; Foskett P; Vodopiutz J; Stauber R; Pertler E; Morell B; Tilg H; Müller T; Kiechl S; Jimenez-Heredia R; Weiss KH; Hahn SH; Janecke A; Ferenci P; Zoller H
    Hepatol Commun; 2022 Jul; 6(7):1611-1619. PubMed ID: 35271763
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Mutation analysis of ATP7B gene in Turkish Wilson disease patients: identification of five novel mutations.
    Simsek Papur O; Akman SA; Cakmur R; Terzioglu O
    Eur J Med Genet; 2013 Apr; 56(4):175-9. PubMed ID: 23333878
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Eleven novel SLC12A1 variants and an exonic mutation cause exon skipping in Bartter syndrome type I.
    Han Y; Zhao X; Wang S; Wang C; Tian D; Lang Y; Bottillo I; Wang X; Shao L
    Endocrine; 2019 Jun; 64(3):708-718. PubMed ID: 30790175
    [TBL] [Abstract][Full Text] [Related]  

  • 7. [Synonymous variants of the ATP7B gene may cause abnormal splicing of mRNA by affecting the exonic splicing enhancers].
    Zhou X; Zheng B; Liu Z; Jin Y
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2020 Nov; 37(11):1236-1240. PubMed ID: 33179228
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Mutation analysis and characterization of alternative splice variants of the Wilson disease gene ATP7B.
    Wan L; Tsai CH; Hsu CM; Huang CC; Yang CC; Liao CC; Wu CC; Hsu YA; Lee CC; Liu SC; Lin WD; Tsai FJ
    Hepatology; 2010 Nov; 52(5):1662-70. PubMed ID: 20931554
    [TBL] [Abstract][Full Text] [Related]  

  • 9. ATP7B Mutation Detection and Pathogenicity Analysis: One Atypical Case of Wilson's Disease with Adrenocortical Insufficiency.
    Liu M; Jin M; Chen X; Wan B; Guo Y; Sheng M; Chen L; Zhao L; Huang D; Li Y
    J Mol Neurosci; 2018 Jan; 64(1):20-28. PubMed ID: 29181760
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Spectrum of mutations in the ATP binding domain of ATP7B gene of Wilson Disease in a regional Indian cohort.
    Guggilla SR; Senagari JR; Rao PN; Madireddi S
    Gene; 2015 Sep; 569(1):83-7. PubMed ID: 25982861
    [TBL] [Abstract][Full Text] [Related]  

  • 11. A new ATP7B gene mutation with severe condition in two unrelated Iranian families with Wilson disease.
    Dastsooz H; Dehghani SM; Imanieh MH; Haghighat M; Moini M; Fardaei M
    Gene; 2013 Feb; 514(1):48-53. PubMed ID: 23159873
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Pathogenicity of Intronic and Synonymous Variants of ATP7B in Wilson Disease.
    Xu WQ; Wang RM; Dong Y; Wu ZY
    J Mol Diagn; 2023 Jan; 25(1):57-67. PubMed ID: 36343861
    [TBL] [Abstract][Full Text] [Related]  

  • 13. A novel deep intronic variant in ATP7B in five unrelated families affected by Wilson disease.
    Woimant F; Poujois A; Bloch A; Jordi T; Laplanche JL; Morel H; Collet C
    Mol Genet Genomic Med; 2020 Oct; 8(10):e1428. PubMed ID: 32770663
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Three novel mutations in the ATP7B gene of unrelated Vietnamese patients with Wilson disease.
    Huong NTM; Lien NTK; Ngoc ND; Mai NTP; Hoa NPA; Hai LT; Van Chi P; Van TT; Van Khanh T; Hoang NH
    BMC Med Genet; 2018 Jun; 19(1):104. PubMed ID: 29914392
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. Complex ATP7B mutation patterns in Wilson disease and evaluation of a yeast model for functional analysis of variants.
    Li X; Zhang W; Zhou D; Lv T; Xu A; Wang H; Zhao X; Zhang B; Li Y; Jia S; Wang Y; Wang X; Wu Z; Duan W; Wang Q; Nan Y; Shang J; Jiang W; Chen Y; Zheng S; Liu M; Sun L; You H; Jia J; Ou X; Huang J
    Hum Mutat; 2019 May; 40(5):552-565. PubMed ID: 30702195
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Disruption of exonic splicing enhancer elements is the principal cause of exon skipping associated with seven nonsense or missense alleles of NF1.
    Zatkova A; Messiaen L; Vandenbroucke I; Wieser R; Fonatsch C; Krainer AR; Wimmer K
    Hum Mutat; 2004 Dec; 24(6):491-501. PubMed ID: 15523642
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. Genetic analysis of 55 northern Vietnamese patients with Wilson disease: seven novel mutations in ATP7B.
    Tuan Pham LA; Nguyen TT; Nga Le HB; Tran DQ; Ho CT; Tran TH; Ta VT; Bui TH; Tran VK
    J Genet; 2017 Dec; 96(6):933-939. PubMed ID: 29321352
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Mutational analysis of exon 8 and exon 14 of ATP7B gene in Bangladeshi children with Wilson disease.
    Tasmeen R; Karim ASMB; Banu LA; Hossain E; Rokunuzzaman M; Majumder W; Alam ST; Rasid R; Benzamin M; Hasan MS
    Indian J Gastroenterol; 2022 Oct; 41(5):456-464. PubMed ID: 36308701
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 18.