These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

304 related articles for article (PubMed ID: 10973241)

  • 1. Domain-specific mutations in TGFB1 result in Camurati-Engelmann disease.
    Kinoshita A; Saito T; Tomita H; Makita Y; Yoshida K; Ghadami M; Yamada K; Kondo S; Ikegawa S; Nishimura G; Fukushima Y; Nakagomi T; Saito H; Sugimoto T; Kamegaya M; Hisa K; Murray JC; Taniguchi N; Niikawa N; Yoshiura K
    Nat Genet; 2000 Sep; 26(1):19-20. PubMed ID: 10973241
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Mutations in the gene encoding the latency-associated peptide of TGF-beta 1 cause Camurati-Engelmann disease.
    Janssens K; Gershoni-Baruch R; Guañabens N; Migone N; Ralston S; Bonduelle M; Lissens W; Van Maldergem L; Vanhoenacker F; Verbruggen L; Van Hul W
    Nat Genet; 2000 Nov; 26(3):273-5. PubMed ID: 11062463
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Confirmation of the mapping of the Camurati-Englemann locus to 19q13. 2 and refinement to a 3.2-cM region.
    Vaughn SP; Broussard S; Hall CR; Scott A; Blanton SH; Milunsky JM; Hecht JT
    Genomics; 2000 May; 66(1):119-21. PubMed ID: 10843814
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Genetic mapping of the Camurati-Engelmann disease locus to chromosome 19q13.1-q13.3.
    Ghadami M; Makita Y; Yoshida K; Nishimura G; Fukushima Y; Wakui K; Ikegawa S; Yamada K; Kondo S; Niikawa N; Tomita Ha
    Am J Hum Genet; 2000 Jan; 66(1):143-7. PubMed ID: 10631145
    [TBL] [Abstract][Full Text] [Related]  

  • 5. A mutation in TGF beta1 gene encoding the latency-associated peptide in a Chinese patient with Camurati-Engelmann disease.
    Liang YH; Li W; Li LY; Ye YY; Lu GX
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2006 Oct; 23(5):502-4. PubMed ID: 17029195
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Marked phenotypic variability in progressive diaphyseal dysplasia (Camurati-Engelmann disease): report of a four-generation pedigree, identification of a mutation in TGFB1, and review.
    Wallace SE; Lachman RS; Mekikian PB; Bui KK; Wilcox WR
    Am J Med Genet A; 2004 Sep; 129A(3):235-47. PubMed ID: 15326622
    [TBL] [Abstract][Full Text] [Related]  

  • 7. [Camurati-Engelmann disease].
    Kinoshita A
    Nihon Rinsho; 2015 Dec; 73(12):2149-59. PubMed ID: 26666167
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Phenotypic variability at the TGF-beta1 locus in Camurati-Engelmann disease.
    Campos-Xavier B; Saraiva JM; Savarirayan R; Verloes A; Feingold J; Faivre L; Munnich A; Le Merrer M; Cormier-Daire V
    Hum Genet; 2001 Dec; 109(6):653-8. PubMed ID: 11810278
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Camurati-Engelmann disease (progressive diaphyseal dysplasia) in a Moroccan family.
    Simsek S; Janssens K; Kwee ML; Van Hul W; Veenstra J; Netelenbos JC
    Osteoporos Int; 2005 Sep; 16(9):1167-70. PubMed ID: 15959620
    [TBL] [Abstract][Full Text] [Related]  

  • 10. A family with Camurati-Engelman disease. The role of the missense p.R218C mutation in TGFB1 in bones and endocrine glands.
    Toumba M; Neocleous V; Shammas C; Anastasiadou V; Allgrove J; Phylactou LA; Skordis N
    J Pediatr Endocrinol Metab; 2013; 26(9-10):987-93. PubMed ID: 23729546
    [TBL] [Abstract][Full Text] [Related]  

  • 11. The first Korean case of Camurati-Engelmann disease (progressive diaphyseal dysplasia) confirmed by TGFB1 gene mutation analysis.
    Park SJ; Yoon CS; Park HW; Choi JR; Chung JS; Lee KA
    J Korean Med Sci; 2009 Aug; 24(4):737-40. PubMed ID: 19654961
    [TBL] [Abstract][Full Text] [Related]  

  • 12. A catalog of 106 single-nucleotide polymorphisms (SNPs) and 11 other types of variations in genes for transforming growth factor-beta1 (TGF-beta1) and its signaling pathway.
    Watanabe Y; Kinoshita A; Yamada T; Ohta T; Kishino T; Matsumoto N; Ishikawa M; Niikawa N; Yoshiura K
    J Hum Genet; 2002; 47(9):478-83. PubMed ID: 12202987
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Camurati-Engelmann disease--a rare cause of bone pain.
    Mundra V; Taxel P
    Conn Med; 2012 Jan; 76(1):33-7. PubMed ID: 22372177
    [TBL] [Abstract][Full Text] [Related]  

  • 14. A mutation affecting the latency-associated peptide of TGFbeta1 in Camurati-Engelmann disease enhances osteoclast formation in vitro.
    McGowan NW; MacPherson H; Janssens K; Van Hul W; Frith JC; Fraser WD; Ralston SH; Helfrich MH
    J Clin Endocrinol Metab; 2003 Jul; 88(7):3321-6. PubMed ID: 12843182
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Transforming growth factor-beta 1 mutations in Camurati-Engelmann disease lead to increased signaling by altering either activation or secretion of the mutant protein.
    Janssens K; ten Dijke P; Ralston SH; Bergmann C; Van Hul W
    J Biol Chem; 2003 Feb; 278(9):7718-24. PubMed ID: 12493741
    [TBL] [Abstract][Full Text] [Related]  

  • 16. [Positional cloning of anomaly-syndrome-causing genes].
    Niikawa N
    Tanpakushitsu Kakusan Koso; 2001 Dec; 46(16 Suppl):2313-8. PubMed ID: 11802385
    [No Abstract]   [Full Text] [Related]  

  • 17. Localisation of the gene causing diaphyseal dysplasia Camurati-Engelmann to chromosome 19q13.
    Janssens K; Gershoni-Baruch R; Van Hul E; Brik R; Guañabens N; Migone N; Verbruggen LA; Ralston SH; Bonduelle M; Van Maldergem L; Vanhoenacker F; Van Hul W
    J Med Genet; 2000 Apr; 37(4):245-9. PubMed ID: 10745041
    [TBL] [Abstract][Full Text] [Related]  

  • 18. A family with Camurati-Engelman disease: the role of the missense p.R218C mutation in TGFbeta1 in bones and endocrine glands.
    Toumba M; Neocleous V; Shammas C; Anastasiadou V; Allgrove J; Phylactou LA; Skordis N
    J Pediatr Endocrinol Metab; 2013; 26(11-12):1189-95. PubMed ID: 23846138
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Domain-specific mutations of a transforming growth factor (TGF)-beta 1 latency-associated peptide cause Camurati-Engelmann disease because of the formation of a constitutively active form of TGF-beta 1.
    Saito T; Kinoshita A; Yoshiura Ki ; Makita Y; Wakui K; Honke K; Niikawa N; Taniguchi N
    J Biol Chem; 2001 Apr; 276(15):11469-72. PubMed ID: 11278244
    [TBL] [Abstract][Full Text] [Related]  

  • 20. TGFB1 mutations in four new families with Camurati-Engelmann disease: confirmation of independently arising LAP-domain-specific mutations.
    Kinoshita A; Fukumaki Y; Shirahama S; Miyahara A; Nishimura G; Haga N; Namba A; Ueda H; Hayashi H; Ikegawa S; Seidel J; Niikawa N; Yoshiura KI
    Am J Med Genet A; 2004 May; 127A(1):104-107. PubMed ID: 15103729
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 16.