BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

101 related articles for article (PubMed ID: 16697534)

  • 1. A common structural mechanism underlying GCMB mutations that cause hypoparathyroidism.
    Sticht H; Hashemolhosseini S
    Med Hypotheses; 2006; 67(3):482-7. PubMed ID: 16697534
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Identification and characterization of novel parathyroid-specific transcription factor Glial Cells Missing Homolog B (GCMB) mutations in eight families with autosomal recessive hypoparathyroidism.
    Bowl MR; Mirczuk SM; Grigorieva IV; Piret SE; Cranston T; Southam L; Allgrove J; Bahl S; Brain C; Loughlin J; Mughal Z; Ryan F; Shaw N; Thakker YV; Tiosano D; Nesbit MA; Thakker RV
    Hum Mol Genet; 2010 May; 19(10):2028-38. PubMed ID: 20190276
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Glial cells missing-2 (GCM2) transactivates the calcium-sensing receptor gene: effect of a dominant-negative GCM2 mutant associated with autosomal dominant hypoparathyroidism.
    Canaff L; Zhou X; Mosesova I; Cole DE; Hendy GN
    Hum Mutat; 2009 Jan; 30(1):85-92. PubMed ID: 18712808
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Structural and functional analyses of disease-causing missense mutations in the forkhead domain of FOXC1.
    Saleem RA; Banerjee-Basu S; Berry FB; Baxevanis AD; Walter MA
    Hum Mol Genet; 2003 Nov; 12(22):2993-3005. PubMed ID: 14506133
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Identification and characterization of C106R, a novel mutation in the DNA-binding domain of GCMB, in a family with autosomal-dominant hypoparathyroidism.
    Yi HS; Eom YS; Park IeB; Lee S; Hong S; Jüppner H; Mannstadt M; Lee S
    Clin Endocrinol (Oxf); 2012 May; 76(5):625-33. PubMed ID: 22066718
    [TBL] [Abstract][Full Text] [Related]  

  • 6. GCMB mutation in familial isolated hypoparathyroidism with residual secretion of parathyroid hormone.
    Thomée C; Schubert SW; Parma J; Lê PQ; Hashemolhosseini S; Wegner M; Abramowicz MJ
    J Clin Endocrinol Metab; 2005 May; 90(5):2487-92. PubMed ID: 15728199
    [TBL] [Abstract][Full Text] [Related]  

  • 7. A missense glial cells missing homolog B (GCMB) mutation, Asn502His, causes autosomal dominant hypoparathyroidism.
    Mirczuk SM; Bowl MR; Nesbit MA; Cranston T; Fratter C; Allgrove J; Brain C; Thakker RV
    J Clin Endocrinol Metab; 2010 Jul; 95(7):3512-6. PubMed ID: 20463099
    [TBL] [Abstract][Full Text] [Related]  

  • 8. HNF1beta/TCF2 mutations impair transactivation potential through altered co-regulator recruitment.
    Barbacci E; Chalkiadaki A; Masdeu C; Haumaitre C; Lokmane L; Loirat C; Cloarec S; Talianidis I; Bellanne-Chantelot C; Cereghini S
    Hum Mol Genet; 2004 Dec; 13(24):3139-49. PubMed ID: 15509593
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Essential structural and functional determinants within the forkhead domain of FOXC1.
    Saleem RA; Banerjee-Basu S; Murphy TC; Baxevanis A; Walter MA
    Nucleic Acids Res; 2004; 32(14):4182-93. PubMed ID: 15299087
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Translation of SOX10 3' untranslated region causes a complex severe neurocristopathy by generation of a deleterious functional domain.
    Inoue K; Ohyama T; Sakuragi Y; Yamamoto R; Inoue NA; Yu LH; Goto Y; Wegner M; Lupski JR
    Hum Mol Genet; 2007 Dec; 16(24):3037-46. PubMed ID: 17855451
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Clinical and molecular characterizations of novel POU3F4 mutations reveal that DFN3 is due to null function of POU3F4 protein.
    Lee HK; Song MH; Kang M; Lee JT; Kong KA; Choi SJ; Lee KY; Venselaar H; Vriend G; Lee WS; Park HJ; Kwon TK; Bok J; Kim UK
    Physiol Genomics; 2009 Nov; 39(3):195-201. PubMed ID: 19671658
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Structural basis of restoring sequence-specific DNA binding and transactivation to mutant p53 by suppressor mutations.
    Suad O; Rozenberg H; Brosh R; Diskin-Posner Y; Kessler N; Shimon LJ; Frolow F; Liran A; Rotter V; Shakked Z
    J Mol Biol; 2009 Jan; 385(1):249-65. PubMed ID: 18996393
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Dominant-negative GCMB mutations cause an autosomal dominant form of hypoparathyroidism.
    Mannstadt M; Bertrand G; Muresan M; Weryha G; Leheup B; Pulusani SR; Grandchamp B; Jüppner H; Silve C
    J Clin Endocrinol Metab; 2008 Sep; 93(9):3568-76. PubMed ID: 18583467
    [TBL] [Abstract][Full Text] [Related]  

  • 14. The wing 2 region of the FOXC1 forkhead domain is necessary for normal DNA-binding and transactivation functions.
    Murphy TC; Saleem RA; Footz T; Ritch R; McGillivray B; Walter MA
    Invest Ophthalmol Vis Sci; 2004 Aug; 45(8):2531-8. PubMed ID: 15277473
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Nine-amino-acid transactivation domain: establishment and prediction utilities.
    Piskacek S; Gregor M; Nemethova M; Grabner M; Kovarik P; Piskacek M
    Genomics; 2007 Jun; 89(6):756-68. PubMed ID: 17467953
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Structural modeling identified the tRNA-binding domain of Utp8p, an essential nucleolar component of the nuclear tRNA export machinery of Saccharomyces cerevisiae.
    McGuire AT; Keates RA; Cook S; Mangroo D
    Biochem Cell Biol; 2009 Apr; 87(2):431-43. PubMed ID: 19370060
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Familial isolated hypoparathyroidism caused by a mutation in the gene for the transcription factor GCMB.
    Ding C; Buckingham B; Levine MA
    J Clin Invest; 2001 Oct; 108(8):1215-20. PubMed ID: 11602629
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Structural analysis of disease-causing mutations in the P-subfamily of forkhead transcription factors.
    Banerjee-Basu S; Baxevanis AD
    Proteins; 2004 Mar; 54(4):639-47. PubMed ID: 14997560
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Identification of a novel mutation disrupting the DNA binding activity of GCM2 in autosomal recessive familial isolated hypoparathyroidism.
    Baumber L; Tufarelli C; Patel S; King P; Johnson CA; Maher ER; Trembath RC
    J Med Genet; 2005 May; 42(5):443-8. PubMed ID: 15863676
    [No Abstract]   [Full Text] [Related]  

  • 20. XPB: An essential helicase involved in both transcription and repair of DNA.
    Timmins J; McSweeney S
    Mol Cell; 2006 Apr; 22(2):149-50. PubMed ID: 16630882
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 6.