187 related articles for article (PubMed ID: 20735442)
21. Skeletal muscle pathology in Costello and cardio-facio-cutaneous syndromes: developmental consequences of germline Ras/MAPK activation on myogenesis.
Tidyman WE; Lee HS; Rauen KA
Am J Med Genet C Semin Med Genet; 2011 May; 157C(2):104-14. PubMed ID: 21495178
[TBL] [Abstract][Full Text] [Related]
22. 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]
23. Leucine-485 deletion variant of BRAF may exhibit the severe end of the clinical spectrum of CFC syndrome.
Suzuki-Muromoto S; Miyabayashi T; Nagai K; Yamamura-Suzuki S; Anzai M; Takezawa Y; Sato R; Okubo Y; Endo W; Inui T; Togashi N; Kikuchi A; Niihori T; Aoki Y; Kure S; Haginoya K
J Hum Genet; 2019 May; 64(5):499-504. PubMed ID: 30842599
[TBL] [Abstract][Full Text] [Related]
24. 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]
25. 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]
26. Consistent absence of BRAF mutations in cervical and endometrial cancer despite KRAS mutation status.
Pappa KI; Choleza M; Markaki S; Giannikaki E; Kyroudi A; Vlachos G; Voulgaris Z; Anagnou NP
Gynecol Oncol; 2006 Mar; 100(3):596-600. PubMed ID: 16256179
[TBL] [Abstract][Full Text] [Related]
27. 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]
28. Cardio-facio-cutaneous syndrome with infantile spasms and delayed myelination.
Aizaki K; Sugai K; Saito Y; Nakagawa E; Sasaki M; Aoki Y; Matsubara Y
Brain Dev; 2011 Feb; 33(2):166-9. PubMed ID: 20395089
[TBL] [Abstract][Full Text] [Related]
29. An adult case of cardiofaciocutaneous syndrome with BRAF mutation.
Sato S; Hida T; Okura M; Ishikawa A; Yamashita T
Eur J Dermatol; 2017 Aug; 27(4):412-413. PubMed ID: 28524057
[No Abstract] [Full Text] [Related]
30. Cardio
Chen B; Chen S; Xiong J; Yin F
Zhong Nan Da Xue Xue Bao Yi Xue Ban; 2021 Apr; 46(4):432-437. PubMed ID: 33967092
[TBL] [Abstract][Full Text] [Related]
31. 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]
32. 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]
33. Epilepsy in RAS/MAPK syndrome: two cases of cardio-facio-cutaneous syndrome with epileptic encephalopathy and a literature review.
Adachi M; Abe Y; Aoki Y; Matsubara Y
Seizure; 2012 Jan; 21(1):55-60. PubMed ID: 21871821
[TBL] [Abstract][Full Text] [Related]
34. Activating mutations in BRAF disrupt the hypothalamo-pituitary axis leading to hypopituitarism in mice and humans.
Gualtieri A; Kyprianou N; Gregory LC; Vignola ML; Nicholson JG; Tan R; Inoue SI; Scagliotti V; Casado P; Blackburn J; Abollo-Jimenez F; Marinelli E; Besser REJ; Högler W; Karen Temple I; Davies JH; Gagunashvili A; Robinson ICAF; Camper SA; Davis SW; Cutillas PR; Gevers EF; Aoki Y; Dattani MT; Gaston-Massuet C
Nat Commun; 2021 Apr; 12(1):2028. PubMed ID: 33795686
[TBL] [Abstract][Full Text] [Related]
35. Low prevalence of RAS-RAF-activating mutations in Spitz melanocytic nevi compared with other melanocytic lesions.
Indsto JO; Kumar S; Wang L; Crotty KA; Arbuckle SM; Mann GJ
J Cutan Pathol; 2007 Jun; 34(6):448-55. PubMed ID: 17518771
[TBL] [Abstract][Full Text] [Related]
36. Nevus cells of cardiofaciocutaneous syndrome bear BRAF germ-line and somatic double mutations.
Hida T; Sato S; Okura M; Uhara H
Eur J Dermatol; 2018 Oct; 28(5):704-705. PubMed ID: 30406758
[No Abstract] [Full Text] [Related]
37. 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]
38. 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]
39. Cardio-facio-cutaneous syndrome: phenotypic variability and differential diagnosis in 3 cases with de novo BRAF mutations.
Demir E; Mancano G; Pomponi MG; Ozcelik A; Gucuyener K; Neri G
Neuropediatrics; 2010 Jun; 41(3):127-31. PubMed ID: 20859831
[TBL] [Abstract][Full Text] [Related]
40. Inhibitors of Raf kinase activity block growth of thyroid cancer cells with RET/PTC or BRAF mutations in vitro and in vivo.
Ouyang B; Knauf JA; Smith EP; Zhang L; Ramsey T; Yusuff N; Batt D; Fagin JA
Clin Cancer Res; 2006 Mar; 12(6):1785-93. PubMed ID: 16551863
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]