BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

219 related articles for article (PubMed ID: 25675383)

  • 1. A novel missense mutation (I26M) in DUOXA2 causing congenital goiter hypothyroidism impairs NADPH oxidase activity but not protein expression.
    Liu S; Liu L; Niu X; Lu D; Xia H; Yan S
    J Clin Endocrinol Metab; 2015 Apr; 100(4):1225-9. PubMed ID: 25675383
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Biallelic inactivation of the dual oxidase maturation factor 2 (DUOXA2) gene as a novel cause of congenital hypothyroidism.
    Zamproni I; Grasberger H; Cortinovis F; Vigone MC; Chiumello G; Mora S; Onigata K; Fugazzola L; Refetoff S; Persani L; Weber G
    J Clin Endocrinol Metab; 2008 Feb; 93(2):605-10. PubMed ID: 18042646
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Compound heterozygosity for a novel hemizygous missense mutation and a partial deletion affecting the catalytic core of the H2O2-generating enzyme DUOX2 associated with transient congenital hypothyroidism.
    Hoste C; Rigutto S; Van Vliet G; Miot F; De Deken X
    Hum Mutat; 2010 Apr; 31(4):E1304-19. PubMed ID: 20187165
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Missense mutations of dual oxidase 2 (DUOX2) implicated in congenital hypothyroidism have impaired trafficking in cells reconstituted with DUOX2 maturation factor.
    Grasberger H; De Deken X; Miot F; Pohlenz J; Refetoff S
    Mol Endocrinol; 2007 Jun; 21(6):1408-21. PubMed ID: 17374849
    [TBL] [Abstract][Full Text] [Related]  

  • 5. A novel dual oxidase maturation factor 2 gene mutation for congenital hypothyroidism.
    Yi RH; Zhu WB; Yang LY; Lan L; Chen Y; Zhou JF; Wang J; Su YQ
    Int J Mol Med; 2013 Feb; 31(2):467-70. PubMed ID: 23292166
    [TBL] [Abstract][Full Text] [Related]  

  • 6. A Novel c.554+5C>T Mutation in the DUOXA2 Gene Combined with p.R885Q Mutation in the DUOX2 Gene Causing Congenital Hypothyroidism.
    Zheng X; Ma SG; Qiu YL; Guo ML; Shao XJ
    J Clin Res Pediatr Endocrinol; 2016 Jun; 8(2):224-7. PubMed ID: 26758695
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Genotypes and phenotypes of congenital goitre and hypothyroidism caused by mutations in dual oxidase 2 genes.
    Wang F; Lu K; Yang Z; Zhang S; Lu W; Zhang L; Liu S; Yan S
    Clin Endocrinol (Oxf); 2014 Sep; 81(3):452-7. PubMed ID: 24735383
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Identification and functional analysis of novel dual oxidase 2 (DUOX2) mutations in children with congenital or subclinical hypothyroidism.
    De Marco G; Agretti P; Montanelli L; Di Cosmo C; Bagattini B; De Servi M; Ferrarini E; Dimida A; Freitas Ferreira AC; Molinaro A; Ceccarelli C; Brozzi F; Pinchera A; Vitti P; Tonacchera M
    J Clin Endocrinol Metab; 2011 Aug; 96(8):E1335-9. PubMed ID: 21565790
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Compound Heterozygous Mutations in the DUOX2/DUOXA2 Genes Cause Congenital Hypothyroidism.
    Zheng X; Ma SG; Guo ML; Qiu YL; Yang LX
    Yonsei Med J; 2017 Jul; 58(4):888-890. PubMed ID: 28541007
    [TBL] [Abstract][Full Text] [Related]  

  • 10. A single copy of the recently identified dual oxidase maturation factor (DUOXA) 1 gene produces only mild transient hypothyroidism in a patient with a novel biallelic DUOXA2 mutation and monoallelic DUOXA1 deletion.
    Hulur I; Hermanns P; Nestoris C; Heger S; Refetoff S; Pohlenz J; Grasberger H
    J Clin Endocrinol Metab; 2011 May; 96(5):E841-5. PubMed ID: 21367925
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Transient congenital hypothyroidism caused by compound heterozygous mutations affecting the NADPH-oxidase domain of DUOX2.
    Yoshizawa-Ogasawara A; Abe K; Ogikubo S; Narumi S; Hasegawa T; Satoh M
    J Pediatr Endocrinol Metab; 2016 Mar; 29(3):363-71. PubMed ID: 26565538
    [TBL] [Abstract][Full Text] [Related]  

  • 12. DUOXS defects: Genotype-phenotype correlations.
    Fugazzola L; Muzza M; Weber G; Beck-Peccoz P; Persani L
    Ann Endocrinol (Paris); 2011 Apr; 72(2):82-6. PubMed ID: 21511237
    [TBL] [Abstract][Full Text] [Related]  

  • 13. DUOX Defects and Their Roles in Congenital Hypothyroidism.
    De Deken X; Miot F
    Methods Mol Biol; 2019; 1982():667-693. PubMed ID: 31172499
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Fetal Goitrous Hypothyroidism and Polyhydramnios in a Patient with Compound Heterozygous DUOXA2 Mutations.
    Tanase-Nakao K; Miyata I; Terauchi A; Saito M; Wada S; Hasegawa T; Narumi S
    Horm Res Paediatr; 2018; 90(2):132-137. PubMed ID: 30110704
    [TBL] [Abstract][Full Text] [Related]  

  • 15. [DUOX2 gene mutation in patients with congenital goiter with hypothyroidism].
    Lü ZP; Li GH; Li WJ; Liu SG
    Zhonghua Er Ke Za Zhi; 2011 Dec; 49(12):943-6. PubMed ID: 22336364
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Defects of thyroidal hydrogen peroxide generation in congenital hypothyroidism.
    Grasberger H
    Mol Cell Endocrinol; 2010 Jun; 322(1-2):99-106. PubMed ID: 20122987
    [TBL] [Abstract][Full Text] [Related]  

  • 17. [Genetic analysis of TPO, DUOX2 and DUOXA2 genes in children with permanent congenital hypothyroidism suspected dyshormonogenesis].
    Huang YL; Tan MY; Jiang X; Li B; Chen QY; Jia XF; Tang CF; Liu JL; Liu L
    Zhonghua Er Ke Za Zhi; 2017 Mar; 55(3):210-214. PubMed ID: 28273705
    [No Abstract]   [Full Text] [Related]  

  • 18. A novel homozygous missense mutation of the dual oxidase 2 (DUOX2) gene in an adult patient with large goiter.
    Ohye H; Fukata S; Hishinuma A; Kudo T; Nishihara E; Ito M; Kubota S; Amino N; Ieiri T; Kuma K; Miyauchi A
    Thyroid; 2008 May; 18(5):561-6. PubMed ID: 18426362
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Heterozygous Mutations of the DUOXA2 and DUOX2 Genes in Dizygotic Twins with Congenital Hypothyroidism.
    Yang LX; Ma SG; Qiu YL; Zheng X
    Clin Lab; 2016; 62(5):849-54. PubMed ID: 27349010
    [TBL] [Abstract][Full Text] [Related]  

  • 20. [Characteristics of DUOXA2 gene mutation in children with congenital hypothyroidism].
    Tan MY; Huang YL; Li B; Jiang X; Chen QY; Jia XF; Tang CF; Liu L
    Zhongguo Dang Dai Er Ke Za Zhi; 2017 Jan; 19(1):59-63. PubMed ID: 28100324
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.