BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

128 related articles for article (PubMed ID: 17509076)

  • 41. Improved diagnosis of a common mutation (R248C) in the human growth factor receptor 3 (FGFR3) gene that causes type I Thanatophoric dysplasia.
    Simsek M; Al-Gazali L; Al-Mjeni R; Bayoumi R
    Clin Biochem; 2003 Mar; 36(2):151-3. PubMed ID: 12633765
    [No Abstract]   [Full Text] [Related]  

  • 42. Structural mimicry of a-loop tyrosine phosphorylation by a pathogenic FGF receptor 3 mutation.
    Huang Z; Chen H; Blais S; Neubert TA; Li X; Mohammadi M
    Structure; 2013 Oct; 21(10):1889-96. PubMed ID: 23972473
    [TBL] [Abstract][Full Text] [Related]  

  • 43. Rapid detection of common mutations of the FGFR3 gene causing thanatophoric dysplasia type I: two case reports.
    Yang Y; Liu YN; Li DZ
    Fetal Pediatr Pathol; 2012 Jun; 31(3):128-33. PubMed ID: 22414243
    [TBL] [Abstract][Full Text] [Related]  

  • 44. Cell adaptation to activated FGFR3 includes Sprouty4 up regulation to inhibit the receptor-mediated ERKs activation from the endoplasmic reticulum.
    Lievens PM; Zanolli E; Garofalo S; Liboi E
    FEBS Lett; 2009 Oct; 583(19):3254-8. PubMed ID: 19761767
    [TBL] [Abstract][Full Text] [Related]  

  • 45. Intermittent PTH (1-34) injection rescues the retarded skeletal development and postnatal lethality of mice mimicking human achondroplasia and thanatophoric dysplasia.
    Xie Y; Su N; Jin M; Qi H; Yang J; Li C; Du X; Luo F; Chen B; Shen Y; Huang H; Xian CJ; Deng C; Chen L
    Hum Mol Genet; 2012 Sep; 21(18):3941-55. PubMed ID: 22634226
    [TBL] [Abstract][Full Text] [Related]  

  • 46. Genotyping of the C742T mutation of the FGFR3 gene causing type 1 thanatophoric dysplasia by high-resolution melting analysis.
    Liu YN; Li R; Li DZ
    J Matern Fetal Neonatal Med; 2011 Jan; 24(1):186-8. PubMed ID: 20569165
    [TBL] [Abstract][Full Text] [Related]  

  • 47. Platyspondylic lethal skeletal dysplasia, San Diego type, is caused by FGFR3 mutations.
    Brodie SG; Kitoh H; Lachman RS; Nolasco LM; Mekikian PB; Wilcox WR
    Am J Med Genet; 1999 Jun; 84(5):476-80. PubMed ID: 10360402
    [TBL] [Abstract][Full Text] [Related]  

  • 48. [From gene to disease; achondroplasia and other skeletal dysplasias due to an activating mutation in the fibroblast growth factor].
    van Ravenswaaij-Arts CM; Losekoot M
    Ned Tijdschr Geneeskd; 2001 Jun; 145(22):1056-9. PubMed ID: 11414167
    [TBL] [Abstract][Full Text] [Related]  

  • 49. Increased first-trimester nuchal translucency associated with thanatophoric dysplasia type 1.
    Zhen L; Pan M; Han J; Yang X; Liao C; Li DZ
    J Obstet Gynaecol; 2015; 35(7):685-7. PubMed ID: 25671245
    [TBL] [Abstract][Full Text] [Related]  

  • 50. Identification of a novel insertion mutation in FGFR3 that causes thanatophoric dysplasia type 1.
    Lindy AS; Basehore MJ; Munisha M; Williams AL; Friez MJ; Writzl K; Willems P; Dougan ST
    Am J Med Genet A; 2016 Jun; 170(6):1573-9. PubMed ID: 27028100
    [TBL] [Abstract][Full Text] [Related]  

  • 51. Disruption of a Sox9-β-catenin circuit by mutant Fgfr3 in thanatophoric dysplasia type II.
    Shung CY; Ota S; Zhou ZQ; Keene DR; Hurlin PJ
    Hum Mol Genet; 2012 Nov; 21(21):4628-44. PubMed ID: 22843502
    [TBL] [Abstract][Full Text] [Related]  

  • 52. Mutant activated FGFR3 impairs endochondral bone growth by preventing SOX9 downregulation in differentiating chondrocytes.
    Zhou ZQ; Ota S; Deng C; Akiyama H; Hurlin PJ
    Hum Mol Genet; 2015 Mar; 24(6):1764-73. PubMed ID: 25432534
    [TBL] [Abstract][Full Text] [Related]  

  • 53. Epidermal growth factor receptors with tyrosine kinase domain mutations exhibit reduced Cbl association, poor ubiquitylation, and down-regulation but are efficiently internalized.
    Padrón D; Sato M; Shay JW; Gazdar AF; Minna JD; Roth MG
    Cancer Res; 2007 Aug; 67(16):7695-702. PubMed ID: 17699773
    [TBL] [Abstract][Full Text] [Related]  

  • 54. A case of thanatophoric dysplasia type 2: a novel mutation.
    Gülaşı S; Atıcı A; Çelik Y
    J Clin Res Pediatr Endocrinol; 2015 Mar; 7(1):73-6. PubMed ID: 25800480
    [TBL] [Abstract][Full Text] [Related]  

  • 55. Common mutations in the fibroblast growth factor receptor 3 (FGFR 3) gene account for achondroplasia, hypochondroplasia, and thanatophoric dwarfism.
    Bonaventure J; Rousseau F; Legeai-Mallet L; Le Merrer M; Munnich A; Maroteaux P
    Am J Med Genet; 1996 May; 63(1):148-54. PubMed ID: 8723101
    [TBL] [Abstract][Full Text] [Related]  

  • 56. Activating Fgfr3 Y367C mutation causes hearing loss and inner ear defect in a mouse model of chondrodysplasia.
    Pannier S; Couloigner V; Messaddeq N; Elmaleh-Bergès M; Munnich A; Romand R; Legeai-Mallet L
    Biochim Biophys Acta; 2009 Feb; 1792(2):140-7. PubMed ID: 19073250
    [TBL] [Abstract][Full Text] [Related]  

  • 57. Clinical features and molecular genetic analysis of thanatophoric dysplasia type I in a neonate with a de novo c.2419 T > C (p. Ter807Arg) (X807R) mutation in FGFR3.
    Jiang G; Chen X; Dai D; Cao L; Qian L
    Exp Mol Pathol; 2019 Dec; 111():104297. PubMed ID: 31476288
    [TBL] [Abstract][Full Text] [Related]  

  • 58. A mutant EGF-receptor defective in ubiquitylation and endocytosis unveils a role for Grb2 in negative signaling.
    Waterman H; Katz M; Rubin C; Shtiegman K; Lavi S; Elson A; Jovin T; Yarden Y
    EMBO J; 2002 Feb; 21(3):303-13. PubMed ID: 11823423
    [TBL] [Abstract][Full Text] [Related]  

  • 59. Constitutively activated FGFR3 mutants signal through PLCgamma-dependent and -independent pathways for hematopoietic transformation.
    Chen J; Williams IR; Lee BH; Duclos N; Huntly BJ; Donoghue DJ; Gilliland DG
    Blood; 2005 Jul; 106(1):328-37. PubMed ID: 15784730
    [TBL] [Abstract][Full Text] [Related]  

  • 60. Defective cellular trafficking of the bone morphogenetic protein receptor type II by mutations underlying familial pulmonary arterial hypertension.
    John A; Kizhakkedath P; Al-Gazali L; Ali BR
    Gene; 2015 Apr; 561(1):148-56. PubMed ID: 25688877
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 7.