BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

226 related articles for article (PubMed ID: 21193012)

  • 1. A novel ENU-generated truncation mutation lacking the spectrin-binding and C-terminal regulatory domains of Ank1 models severe hemolytic hereditary spherocytosis.
    Hughes MR; Anderson N; Maltby S; Wong J; Berberovic Z; Birkenmeier CS; Haddon DJ; Garcha K; Flenniken A; Osborne LR; Adamson SL; Rossant J; Peters LL; Minden MD; Paulson RF; Wang C; Barber DL; McNagny KM; Stanford WL
    Exp Hematol; 2011 Mar; 39(3):305-20, 320.e1-2. PubMed ID: 21193012
    [TBL] [Abstract][Full Text] [Related]  

  • 2. A deep intronic mutation in the ankyrin-1 gene causes diminished protein expression resulting in hemolytic anemia in mice.
    Huang H; Zhao P; Arimatsu K; Tabeta K; Yamazaki K; Krieg L; Fu E; Zhang T; Du X
    G3 (Bethesda); 2013 Oct; 3(10):1687-95. PubMed ID: 23934996
    [TBL] [Abstract][Full Text] [Related]  

  • 3. A novel ENU-mutation in ankyrin-1 disrupts malaria parasite maturation in red blood cells of mice.
    Greth A; Lampkin S; Mayura-Guru P; Rodda F; Drysdale K; Roberts-Thomson M; McMorran BJ; Foote SJ; Burgio G
    PLoS One; 2012; 7(6):e38999. PubMed ID: 22723917
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Targeted next-generation sequencing identifies novel deleterious variants in ANK1 gene causing severe hereditary spherocytosis in Indian patients: expanding the molecular and clinical spectrum.
    More TA; Devendra R; Dongerdiye R; Warang P; Kedar P
    Mol Genet Genomics; 2023 Mar; 298(2):427-439. PubMed ID: 36598564
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Spectrum of Ankyrin Mutations in Hereditary Spherocytosis: A Case Report and Review of the Literature.
    Luo Y; Li Z; Huang L; Tian J; Xiong M; Yang Z
    Acta Haematol; 2018; 140(2):77-86. PubMed ID: 30227413
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Mutational characteristics of ANK1 and SPTB genes in hereditary spherocytosis.
    Park J; Jeong DC; Yoo J; Jang W; Chae H; Kim J; Kwon A; Choi H; Lee JW; Chung NG; Kim M; Kim Y
    Clin Genet; 2016 Jul; 90(1):69-78. PubMed ID: 26830532
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Suppression of hepcidin expression and iron overload mediate Salmonella susceptibility in ankyrin 1 ENU-induced mutant.
    Yuki KE; Eva MM; Richer E; Chung D; Paquet M; Cellier M; Canonne-Hergaux F; Vaulont S; Vidal SM; Malo D
    PLoS One; 2013; 8(2):e55331. PubMed ID: 23390527
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Two novel ANK1 loss-of-function mutations in Chinese families with hereditary spherocytosis.
    Hao L; Li S; Ma D; Chen S; Zhang B; Xiao D; Zhang J; Jiang N; Jiang S; Ma J
    J Cell Mol Med; 2019 Jun; 23(6):4454-4463. PubMed ID: 31016877
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Identification of a de novo ANK1 mutation in a Chinese family with hereditary spherocytosis.
    Guan H; Liang X; Zhang R; Wang H; Liu W; Zhang R; Yang J; Liu S
    Hematology; 2018 Jul; 23(6):357-361. PubMed ID: 29099659
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Novel nonsense mutation p. Gln264Ter in the ANK1 confirms causative role for hereditary spherocytosis: a case report.
    Chai S; Jiao R; Sun X; Fu P; Zhao Q; Sang M
    BMC Med Genet; 2020 Nov; 21(1):223. PubMed ID: 33187473
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Genotype-degree of hemolysis correlation in hereditary spherocytosis.
    Shi Y; Li Y; Yang X; Li X; Peng G; Zhao X; Liu X; Zhao Y; Hu J; Hu X; Zhang B; Zhou K; Yang Y; Xiong Y; Li J; Fan H; Yang W; Ye L; Jing L; Zhang L; Zhang F
    BMC Genomics; 2023 Jun; 24(1):304. PubMed ID: 37280519
    [TBL] [Abstract][Full Text] [Related]  

  • 12. A Novel
    Jang W; Kim SK; Nahm CH; Choi JW; Kim JJ; Moon Y
    Ann Clin Lab Sci; 2021 Jan; 51(1):136-139. PubMed ID: 33653793
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Normoblastosis, a murine model for ankyrin-deficient hemolytic anemia, is caused by a hypomorphic mutation in the erythroid ankyrin gene Ank1.
    Birkenmeier CS; Gifford EJ; Barker JE
    Hematol J; 2003; 4(6):445-9. PubMed ID: 14671619
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Identification of a novel p.Q1772X ANK1 mutation in a Korean family with hereditary spherocytosis.
    Han JH; Kim S; Jang H; Kim SW; Lee MG; Koh H; Lee JH
    PLoS One; 2015; 10(6):e0131251. PubMed ID: 26107955
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Identification of new mutations in patients with hereditary spherocytosis by next-generation sequencing.
    Qin L; Nie Y; Zhang H; Chen L; Zhang D; Lin Y; Ru K
    J Hum Genet; 2020 Apr; 65(4):427-434. PubMed ID: 31980736
    [TBL] [Abstract][Full Text] [Related]  

  • 16. A previously unrecognized Ankyrin-1 mutation associated with Hereditary Spherocytosis in an Italian family.
    Lazzareschi I; Curatola A; Pedicelli C; Castiglia D; Buonsenso D; Gatto A; AttinĂ  G; Valentini P
    Eur J Haematol; 2019 Nov; 103(5):523-526. PubMed ID: 31400153
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Tokyo-1 Mutation: Hereditary Spherocytosis in a Hispanic Newborn Presenting as Early Onset Severe Hyperbilirubinemia.
    Tan AW; Leung P; Patil UP
    Fetal Pediatr Pathol; 2018 Aug; 37(4):296-300. PubMed ID: 30207817
    [TBL] [Abstract][Full Text] [Related]  

  • 18. A de novo ANK1 mutation associated to hereditary spherocytosis: a case report.
    Huang TL; Sang BH; Lei QL; Song CY; Lin YB; Lv Y; Yang CH; Li N; Yang YH; Zhang XW; Tian X
    BMC Pediatr; 2019 Feb; 19(1):62. PubMed ID: 30777044
    [TBL] [Abstract][Full Text] [Related]  

  • 19. High frequency of de novo mutations in ankyrin gene (ANK1) in children with hereditary spherocytosis.
    Miraglia del Giudice E; Francese M; Nobili B; Morlé L; Cutillo S; Delaunay J; Perrotta S
    J Pediatr; 1998 Jan; 132(1):117-20. PubMed ID: 9470011
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Deciphering molecular heterogeneity of Indian families with hereditary spherocytosis using targeted next-generation sequencing: First South Asian study.
    Aggarwal A; Jamwal M; Sharma P; Sachdeva MUS; Bansal D; Malhotra P; Das R
    Br J Haematol; 2020 Mar; 188(5):784-795. PubMed ID: 31602632
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 12.