BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

161 related articles for article (PubMed ID: 32824233)

  • 1. Juvenile Hemochromatosis: A Case Report and Review of the Literature.
    Takami A; Tatsumi Y; Sakai K; Toki Y; Ikuta K; Oohigashi Y; Takagi J; Kato K; Takami K
    Pharmaceuticals (Basel); 2020 Aug; 13(8):. PubMed ID: 32824233
    [TBL] [Abstract][Full Text] [Related]  

  • 2. HJV gene mutations in European patients with juvenile hemochromatosis.
    Gehrke SG; Pietrangelo A; Kascák M; Braner A; Eisold M; Kulaksiz H; Herrmann T; Hebling U; Bents K; Gugler R; Stremmel W
    Clin Genet; 2005 May; 67(5):425-8. PubMed ID: 15811010
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Juvenile hemochromatosis associated with heterozygosity for novel hemojuvelin mutations and with unknown cofactors.
    Pelusi S; Rametta R; Della Corte C; Congia R; Dongiovanni P; Pulixi EA; Fargion S; Fracanzani AL; Nobili V; Valenti L
    Ann Hepatol; 2014; 13(5):568-71. PubMed ID: 25152992
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Defective targeting of hemojuvelin to plasma membrane is a common pathogenetic mechanism in juvenile hemochromatosis.
    Silvestri L; Pagani A; Fazi C; Gerardi G; Levi S; Arosio P; Camaschella C
    Blood; 2007 May; 109(10):4503-10. PubMed ID: 17264300
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Genotypic and phenotypic spectra of hemojuvelin mutations in primary hemochromatosis patients: a systematic review.
    Kong X; Xie L; Zhu H; Song L; Xing X; Yang W; Chen X
    Orphanet J Rare Dis; 2019 Jul; 14(1):171. PubMed ID: 31286966
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Spectrum of hemojuvelin gene mutations in 1q-linked juvenile hemochromatosis.
    Lanzara C; Roetto A; Daraio F; Rivard S; Ficarella R; Simard H; Cox TM; Cazzola M; Piperno A; Gimenez-Roqueplo AP; Grammatico P; Volinia S; Gasparini P; Camaschella C
    Blood; 2004 Jun; 103(11):4317-21. PubMed ID: 14982873
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Hereditary hemochromatosis: mutations in genes involved in iron homeostasis in Brazilian patients.
    Santos PC; Cançado RD; Pereira AC; Schettert IT; Soares RA; Pagliusi RA; Hirata RD; Hirata MH; Teixeira AC; Figueiredo MS; Chiattone CS; Krieger JE; Guerra-Shinohara EM
    Blood Cells Mol Dis; 2011 Apr; 46(4):302-7. PubMed ID: 21411349
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Identification of heterozygous p.Y150C and p.V274M mutations in the HJV gene in a Japanese patient with a mild phenotype of juvenile hemochromatosis: A case report.
    Kawaguchi T; Ikuta K; Tatsumi Y; Toki Y; Hayashi H; Tonan T; Ohtake T; Hoshino S; Naito M; Kato K; Okumura T; Torimura T
    Hepatol Res; 2020 Jan; 50(1):144-150. PubMed ID: 31472034
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Allele frequencies of hemojuvelin gene (HJV) I222N and G320V missense mutations in white and African American subjects from the general Alabama population.
    Barton JC; Rivers CA; Niyongere S; Bohannon SB; Acton RT
    BMC Med Genet; 2004 Dec; 5():29. PubMed ID: 15610558
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Interaction of hemojuvelin with neogenin results in iron accumulation in human embryonic kidney 293 cells.
    Zhang AS; West AP; Wyman AE; Bjorkman PJ; Enns CA
    J Biol Chem; 2005 Oct; 280(40):33885-94. PubMed ID: 16103117
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Juvenile hemochromatosis due to G320V/Q116X compound heterozygosity of hemojuvelin in an Irish patient.
    Daraio F; Ryan E; Gleeson F; Roetto A; Crowe J; Camaschella C
    Blood Cells Mol Dis; 2005; 35(2):174-6. PubMed ID: 15967692
    [TBL] [Abstract][Full Text] [Related]  

  • 12. A Q312X mutation in the hemojuvelin gene is associated with cardiomyopathy due to juvenile haemochromatosis.
    Nagayoshi Y; Nakayama M; Suzuki S; Hokamaki J; Shimomura H; Tsujita K; Fukuda M; Yamashita T; Nakamura Y; Sugiyama S; Ogawa H
    Eur J Heart Fail; 2008 Oct; 10(10):1001-6. PubMed ID: 18725184
    [TBL] [Abstract][Full Text] [Related]  

  • 13. The recently identified type 2A juvenile haemochromatosis gene (HJV), a second candidate modifier of the C282Y homozygous phenotype.
    Le Gac G; Scotet V; Ka C; Gourlaouen I; Bryckaert L; Jacolot S; Mura C; Férec C
    Hum Mol Genet; 2004 Sep; 13(17):1913-8. PubMed ID: 15254010
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Novel Mutation in the Hemojuvelin Gene (HJV) in a Patient with Juvenile Hemochromatosis Presenting with Insulin-dependent Diabetes Mellitus, Secondary Hypothyroidism and Hypogonadism.
    Santiago de Sousa Azulay R; Magalhães M; Tavares MDG; Dualibe R; Barbosa L; Sá Gaspar S; Faria AM; Nascimento GC; Damianse SDSP; Rocha VCC; Gomes MB; Dos Santos Faria M
    Am J Case Rep; 2020 Apr; 21():e923108. PubMed ID: 32327622
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Genetic abnormalities and juvenile hemochromatosis: mutations of the HJV gene encoding hemojuvelin.
    Lee PL; Beutler E; Rao SV; Barton JC
    Blood; 2004 Jun; 103(12):4669-71. PubMed ID: 14982867
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Mutations in HFE2 cause iron overload in chromosome 1q-linked juvenile hemochromatosis.
    Papanikolaou G; Samuels ME; Ludwig EH; MacDonald ML; Franchini PL; Dubé MP; Andres L; MacFarlane J; Sakellaropoulos N; Politou M; Nemeth E; Thompson J; Risler JK; Zaborowska C; Babakaiff R; Radomski CC; Pape TD; Davidas O; Christakis J; Brissot P; Lockitch G; Ganz T; Hayden MR; Goldberg YP
    Nat Genet; 2004 Jan; 36(1):77-82. PubMed ID: 14647275
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Conditional disruption of mouse HFE2 gene: maintenance of systemic iron homeostasis requires hepatic but not skeletal muscle hemojuvelin.
    Gkouvatsos K; Wagner J; Papanikolaou G; Sebastiani G; Pantopoulos K
    Hepatology; 2011 Nov; 54(5):1800-7. PubMed ID: 21748766
    [TBL] [Abstract][Full Text] [Related]  

  • 18. A homozygous HAMP mutation in a multiply consanguineous family with pseudo-dominant juvenile hemochromatosis.
    Delatycki MB; Allen KJ; Gow P; MacFarlane J; Radomski C; Thompson J; Hayden MR; Goldberg YP; Samuels ME
    Clin Genet; 2004 May; 65(5):378-83. PubMed ID: 15099344
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Hemojuvelin is essential for dietary iron sensing, and its mutation leads to severe iron overload.
    Niederkofler V; Salie R; Arber S
    J Clin Invest; 2005 Aug; 115(8):2180-6. PubMed ID: 16075058
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Variable expressivity of HJV related hemochromatosis: "Juvenile" hemochromatosis?
    Hamdi-Rozé H; Ben Ali Z; Ropert M; Detivaud L; Aggoune S; Simon D; Pelletier G; Deugnier Y; David V; Bardou-Jacquet E
    Blood Cells Mol Dis; 2019 Feb; 74():30-33. PubMed ID: 30389309
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.