232 related articles for article (PubMed ID: 21383153)
1. Constitutive activation of B-Raf in the mouse germ line provides a model for human cardio-facio-cutaneous syndrome.
Urosevic J; Sauzeau V; Soto-Montenegro ML; Reig S; Desco M; Wright EM; Cañamero M; Mulero F; Ortega S; Bustelo XR; Barbacid M
Proc Natl Acad Sci U S A; 2011 Mar; 108(12):5015-20. PubMed ID: 21383153
[TBL] [Abstract][Full Text] [Related]
2. Familial cardio-facio-cutaneous syndrome: Vertical transmission of the BRAF p.G464R pathogenic variant and review of the literature.
Rauen KA; Maeda Y; Egense A; Tidyman WE
Am J Med Genet A; 2021 Feb; 185(2):469-475. PubMed ID: 33274568
[TBL] [Abstract][Full Text] [Related]
3. New BRAF knockin mice provide a pathogenetic mechanism of developmental defects and a therapeutic approach in cardio-facio-cutaneous syndrome.
Inoue S; Moriya M; Watanabe Y; Miyagawa-Tomita S; Niihori T; Oba D; Ono M; Kure S; Ogura T; Matsubara Y; Aoki Y
Hum Mol Genet; 2014 Dec; 23(24):6553-66. PubMed ID: 25035421
[TBL] [Abstract][Full Text] [Related]
4. Craniofacial and dental development in cardio-facio-cutaneous syndrome: the importance of Ras signaling homeostasis.
Goodwin AF; Oberoi S; Landan M; Charles C; Groth J; Martinez A; Fairley C; Weiss LA; Tidyman WE; Klein OD; Rauen KA
Clin Genet; 2013 Jun; 83(6):539-44. PubMed ID: 22946697
[TBL] [Abstract][Full Text] [Related]
5. Ras/MAPK dysregulation in development causes a skeletal myopathy in an activating Braf
Maeda Y; Tidyman WE; Ander BP; Pritchard CA; Rauen KA
Dev Dyn; 2021 Aug; 250(8):1074-1095. PubMed ID: 33522658
[TBL] [Abstract][Full Text] [Related]
6.
Aoidi R; Houde N; Landry-Truchon K; Holter M; Jacquet K; Charron L; Krishnaswami SR; Yu BD; Rauen KA; Bisson N; Newbern J; Charron J
Dis Model Mech; 2018 Mar; 11(3):. PubMed ID: 29590634
[TBL] [Abstract][Full Text] [Related]
7. Deletion of MAP2K2/MEK2: a novel mechanism for a RASopathy?
Nowaczyk MJ; Thompson BA; Zeesman S; Moog U; Sanchez-Lara PA; Magoulas PL; Falk RE; Hoover-Fong JE; Batista DA; Amudhavalli SM; White SM; Graham GE; Rauen KA
Clin Genet; 2014 Feb; 85(2):138-46. PubMed ID: 23379592
[TBL] [Abstract][Full Text] [Related]
8. Cardio-facio-cutaneous syndrome: does genotype predict phenotype?
Allanson JE; Annerén G; Aoki Y; Armour CM; Bondeson ML; Cave H; Gripp KW; Kerr B; Nystrom AM; Sol-Church K; Verloes A; Zenker M
Am J Med Genet C Semin Med Genet; 2011 May; 157C(2):129-35. PubMed ID: 21495173
[TBL] [Abstract][Full Text] [Related]
9. Activated Braf induces esophageal dilation and gastric epithelial hyperplasia in mice.
Inoue SI; Takahara S; Yoshikawa T; Niihori T; Yanai K; Matsubara Y; Aoki Y
Hum Mol Genet; 2017 Dec; 26(23):4715-4727. PubMed ID: 28973166
[TBL] [Abstract][Full Text] [Related]
10. Germline mutations of MEK in cardio-facio-cutaneous syndrome are sensitive to MEK and RAF inhibition: implications for therapeutic options.
Senawong T; Phuchareon J; Ohara O; McCormick F; Rauen KA; Tetsu O
Hum Mol Genet; 2008 Feb; 17(3):419-30. PubMed ID: 17981815
[TBL] [Abstract][Full Text] [Related]
11. Dermatological findings in 61 mutation-positive individuals with cardiofaciocutaneous syndrome.
Siegel DH; McKenzie J; Frieden IJ; Rauen KA
Br J Dermatol; 2011 Mar; 164(3):521-9. PubMed ID: 21062266
[TBL] [Abstract][Full Text] [Related]
12. Is diagnosing cardio-facio-cutaneous (CFC) syndrome still a challenge? Delineation of the phenotype in 15 Polish patients with proven mutations, including novel mutations in the BRAF1 gene.
Ciara E; Pelc M; Jurkiewicz D; Kugaudo M; Gieruszczak-Białek D; Skórka A; Posmyk R; Jakubiuk-Tomaszuk A; Cieślikowska A; Chrzanowska KH; Jezela-Stanek A; Krajewska-Walasek M
Eur J Med Genet; 2015 Jan; 58(1):14-20. PubMed ID: 25463315
[TBL] [Abstract][Full Text] [Related]
13. Mutational and functional analysis in human Ras/MAP kinase genetic syndromes.
Tidyman WE; Rauen KA
Methods Mol Biol; 2010; 661():433-47. PubMed ID: 20812000
[TBL] [Abstract][Full Text] [Related]
14. A sibling pair with cardiofaciocutaneous syndrome (CFC) secondary to BRAF mutation with unaffected parents-the first cases of gonadal mosaicism in CFC?
Geoghegan S; King G; Henchliffe J; Ramsden SC; Barry RJ; Green AJ; O'Connell SM
Am J Med Genet A; 2018 Jul; 176(7):1637-1640. PubMed ID: 29704308
[TBL] [Abstract][Full Text] [Related]
15. C-type natriuretic peptide improves growth retardation in a mouse model of cardio-facio-cutaneous syndrome.
Inoue SI; Morozumi N; Yoshikiyo K; Maeda H; Aoki Y
Hum Mol Genet; 2019 Jan; 28(1):74-83. PubMed ID: 30239744
[TBL] [Abstract][Full Text] [Related]
16. Continual low-level MEK inhibition ameliorates cardio-facio-cutaneous phenotypes in zebrafish.
Anastasaki C; Rauen KA; Patton EE
Dis Model Mech; 2012 Jul; 5(4):546-52. PubMed ID: 22301711
[TBL] [Abstract][Full Text] [Related]
17. Further delineation of the phenotype resulting from BRAF or MEK1 germline mutations helps differentiate cardio-facio-cutaneous syndrome from Costello syndrome.
Gripp KW; Lin AE; Nicholson L; Allen W; Cramer A; Jones KL; Kutz W; Peck D; Rebolledo MA; Wheeler PG; Wilson W; Al-Rahawan MM; Stabley DL; Sol-Church K
Am J Med Genet A; 2007 Jul; 143A(13):1472-80. PubMed ID: 17551924
[TBL] [Abstract][Full Text] [Related]
18. CNS imaging is a key diagnostic tool in the evaluation of patients with CFC syndrome: two cases and literature review.
Papadopoulou E; Sifakis S; Sol-Church K; Klein-Zighelboim E; Stabley DL; Raissaki M; Gripp KW; Kalmanti M
Am J Med Genet A; 2011 Mar; 155A(3):605-11. PubMed ID: 21337689
[TBL] [Abstract][Full Text] [Related]
19. [Cardiofaciocutaneous syndrome, a Noonan syndrome related disorder: clinical and molecular findings in 11 patients].
Carcavilla A; García-Miñaúr S; Pérez-Aytés A; Vendrell T; Pinto I; Guillén-Navarro E; González-Meneses A; Aoki Y; Grinberg D; Ezquieta B
Med Clin (Barc); 2015 Jan; 144(2):67-72. PubMed ID: 25194980
[TBL] [Abstract][Full Text] [Related]
20. Molecular and clinical characterization of cardio-facio-cutaneous (CFC) syndrome: overlapping clinical manifestations with Costello syndrome.
Narumi Y; Aoki Y; Niihori T; Neri G; Cavé H; Verloes A; Nava C; Kavamura MI; Okamoto N; Kurosawa K; Hennekam RC; Wilson LC; Gillessen-Kaesbach G; Wieczorek D; Lapunzina P; Ohashi H; Makita Y; Kondo I; Tsuchiya S; Ito E; Sameshima K; Kato K; Kure S; Matsubara Y
Am J Med Genet A; 2007 Apr; 143A(8):799-807. PubMed ID: 17366577
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]