176 related articles for article (PubMed ID: 30239744)
1. 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]
2. 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]
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. Adult mice expressing a Braf Q241R mutation on an ICR/CD-1 background exhibit a cardio-facio-cutaneous syndrome phenotype.
Moriya M; Inoue S; Miyagawa-Tomita S; Nakashima Y; Oba D; Niihori T; Hashi M; Ohnishi H; Kure S; Matsubara Y; Aoki Y
Hum Mol Genet; 2015 Dec; 24(25):7349-60. PubMed ID: 26472072
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. 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]
7. 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]
8.
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]
9. Cardio-facio-cutaneous syndrome-associated pathogenic MAP2K1 variants activate autophagy.
Chen J; Che L; Xu C; Zhao S; Yang J; Li M; Li G; Shen Y
Gene; 2020 Apr; 733():144369. PubMed ID: 31972311
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. 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]
12. Impaired Osteogenesis of Disease-Specific Induced Pluripotent Stem Cells Derived from a CFC Syndrome Patient.
Choi JY; Han KM; Kim D; Lee BH; Yoo HW; Choi JH; Han YM
Int J Mol Sci; 2017 Dec; 18(12):. PubMed ID: 29194391
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. 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]
15. 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]
16. [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]
17. Biochemical characterization of novel germline BRAF and MEK mutations in cardio-facio-cutaneous syndrome.
Rodriguez-Viciana P; Rauen KA
Methods Enzymol; 2008; 438():277-89. PubMed ID: 18413255
[TBL] [Abstract][Full Text] [Related]
18. Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome.
Schulz AL; Albrecht B; Arici C; van der Burgt I; Buske A; Gillessen-Kaesbach G; Heller R; Horn D; Hübner CA; Korenke GC; König R; Kress W; Krüger G; Meinecke P; Mücke J; Plecko B; Rossier E; Schinzel A; Schulze A; Seemanova E; Seidel H; Spranger S; Tuysuz B; Uhrig S; Wieczorek D; Kutsche K; Zenker M
Clin Genet; 2008 Jan; 73(1):62-70. PubMed ID: 18042262
[TBL] [Abstract][Full Text] [Related]
19. An acute encephalopathy with reduced diffusion in BRAF-associated cardio-facio-cutaneous syndrome.
Okuzono S; Fukai R; Noda M; Miyake N; Lee S; Kaku N; Sanefuji M; Akamine S; Kanno S; Ishizaki Y; Torisu H; Kira R; Matsumoto N; Sakai Y; Ohga S
Brain Dev; 2019 Apr; 41(4):378-381. PubMed ID: 30414707
[TBL] [Abstract][Full Text] [Related]
20. Noonan and cardio-facio-cutaneous syndromes: two clinically and genetically overlapping disorders.
Nyström AM; Ekvall S; Berglund E; Björkqvist M; Braathen G; Duchen K; Enell H; Holmberg E; Holmlund U; Olsson-Engman M; Annerén G; Bondeson ML
J Med Genet; 2008 Aug; 45(8):500-6. PubMed ID: 18456719
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
