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Quoted phrase not found in phrase index: "Cardiofaciocutaneous syndrome 3"
Page 1
Natural history and outcomes in paediatric RASopathy-associated hypertrophic cardiomyopathy.
Boleti O, Norrish G, Field E, Dady K, Summers K, Nepali G, Bhole V, Uzun O, Wong A, Daubeney PEF, Stuart G, Fernandes P, McLeod K, Ilina M, Ali MNL, Bharucha T, Donne GD, Brown E, Linter K, Jones CB, Searle J, Regan W, Mathur S, Boyd N, Reinhardt Z, Duignan S, Prendiville T, Adwani S, Kaski JP. Boleti O, et al. ESC Heart Fail. 2024 Apr;11(2):923-936. doi: 10.1002/ehf2.14637. Epub 2024 Jan 13. ESC Heart Fail. 2024. PMID: 38217456 Free PMC article.
We included children <18 years with HCM and a clinical and/or genetic diagnosis of a RASopathy syndrome [Noonan syndrome (NS), NS with multiple lentigines (NSML), Costello syndrome (CS), cardiofaciocutaneous syndrome (CFCS), and NS with loose anagen hair (NS-LAH) …
We included children <18 years with HCM and a clinical and/or genetic diagnosis of a RASopathy syndrome [Noonan syndrome (NS), NS with mu …
Endocrine system involvement in patients with RASopathies: A case series.
Siano MA, Pivonello R, Salerno M, Falco M, Mauro C, De Brasi D, Klain A, Sestito S, De Luca A, Pinna V, Simeoli C, Concolino D, Mainolfi CG, Mannarino T, Strisciuglio P, Tartaglia M, Melis D. Siano MA, et al. Front Endocrinol (Lausanne). 2022 Nov 18;13:1030398. doi: 10.3389/fendo.2022.1030398. eCollection 2022. Front Endocrinol (Lausanne). 2022. PMID: 36483002 Free PMC article.
STUDY DESIGN: 72 patients with a genetically confirmed RASopathy (Noonan syndrome [NS], N=53; 29 LEOPARD syndrome [LS], N=2; cardiofaciocutaneous syndrome [CFCS], N=14; subjects showing co-occurring pathogenic variants in PTPN11 and NF1, N=3) and an age- and …
STUDY DESIGN: 72 patients with a genetically confirmed RASopathy (Noonan syndrome [NS], N=53; 29 LEOPARD syndrome [LS], N=2; cardiofacioc …
The paradox of FGFR3 signaling in skeletal dysplasia: why chondrocytes growth arrest while other cells over proliferate.
Krejci P. Krejci P. Mutat Res Rev Mutat Res. 2014 Jan-Mar;759:40-8. doi: 10.1016/j.mrrev.2013.11.001. Epub 2013 Dec 1. Mutat Res Rev Mutat Res. 2014. PMID: 24295726 Review.
Remarkably, the same mutations inhibit chondrocyte proliferation and differentiation in developing bones, resulting in skeletal dysplasias, such as hypochondroplasia, achondroplasia, SADDAN and thanatophoric dysplasia. A similar phenotype is observed in Noonan syndrome, Le …
Remarkably, the same mutations inhibit chondrocyte proliferation and differentiation in developing bones, resulting in skeletal dysplasias, …
Familial cardiofaciocutaneous syndrome in a father and a son with a novel MEK2 mutation.
Karaer K, Lissewski C, Zenker M. Karaer K, et al. Am J Med Genet A. 2015 Feb;167A(2):385-8. doi: 10.1002/ajmg.a.36429. Epub 2014 Dec 8. Am J Med Genet A. 2015. PMID: 25487361
We report on a fourth familial case with transmission of CFC syndrome from father to son due to a novel heterozygous sequence change c.376A>G (p.N126D) in exon 3 of MEK2 gene. This observation further documents the possibility of vertical transmission of CFC synd …
We report on a fourth familial case with transmission of CFC syndrome from father to son due to a novel heterozygous sequence change c.376A& …
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. Inoue SI, et al. Hum Mol Genet. 2019 Jan 1;28(1):74-83. doi: 10.1093/hmg/ddy333. Hum Mol Genet. 2019. PMID: 30239744
In accordance with growth retardation and reduced growth plate width, decreased serum levels of insulin-like growth factor 1 (IGF-1) and IGF binding protein 3 (IGFBP-3) were observed in BrafQ241R/+ mice at 3 and 4 weeks of age. ...In conclusion, ERK ac …
In accordance with growth retardation and reduced growth plate width, decreased serum levels of insulin-like growth factor 1 (IGF-1) and IGF …
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. Nowaczyk MJ, et al. Clin Genet. 2014 Feb;85(2):138-46. doi: 10.1111/cge.12116. Epub 2013 Apr 2. Clin Genet. 2014. PMID: 23379592 Free PMC article.
We define the phenotype of seven patients with de novo deletions of chromosome 19p13.3 including MEK2; they present with a distinct phenotype but have overlapping features with CFC syndrome. ...Significant differences in total MEK2 and Sprouty1 abundance were also obser …
We define the phenotype of seven patients with de novo deletions of chromosome 19p13.3 including MEK2; they present with a distinct p …
Patient-derived iPSCs show premature neural differentiation and neuron type-specific phenotypes relevant to neurodevelopment.
Yeh E, Dao DQ, Wu ZY, Kandalam SM, Camacho FM, Tom C, Zhang W, Krencik R, Rauen KA, Ullian EM, Weiss LA. Yeh E, et al. Mol Psychiatry. 2018 Aug;23(8):1687-1698. doi: 10.1038/mp.2017.238. Epub 2017 Nov 21. Mol Psychiatry. 2018. PMID: 29158583 Free PMC article.
We studied the role of the mutation BRAF(Q257R), the most common cause of cardiofaciocutaneous syndrome (CFC), in an induced pluripotent stem cell (iPSC)-derived model of human neurodevelopment. In iPSC-derived neuronal cultures from CFC subjects, we observed …
We studied the role of the mutation BRAF(Q257R), the most common cause of cardiofaciocutaneous syndrome (CFC), in an induced p …
Comparison of hair manifestations in cardio-facio-cutaneous and Costello syndromes highlights the influence of the RAS pathway on hair growth.
Urban J, Qi L, Zhao H, Rybak I, Rauen KA, Kiuru M. Urban J, et al. J Eur Acad Dermatol Venereol. 2020 Mar;34(3):601-607. doi: 10.1111/jdv.16082. Epub 2020 Jan 2. J Eur Acad Dermatol Venereol. 2020. PMID: 31736117 Free PMC article.
RESULTS: While both syndromes displayed abnormal hair, striking differences were observed, including darker and thicker scalp hair and sparse eyebrows and eyelashes in CFCS. By contrast, synophrys, trichomegaly and abnormalities of the scalp hair shafts were observed …
RESULTS: While both syndromes displayed abnormal hair, striking differences were observed, including darker and thicker scalp hair an …
Dermatological phenotype in Costello syndrome: consequences of Ras dysregulation in development.
Siegel DH, Mann JA, Krol AL, Rauen KA. Siegel DH, et al. Br J Dermatol. 2012 Mar;166(3):601-7. doi: 10.1111/j.1365-2133.2011.10744.x. Br J Dermatol. 2012. PMID: 22098123 Free PMC article.
Costello syndrome (CS) is a RASopathy caused by mutations in the HRAS gene, a key regulator of signal transduction. OBJECTIVE: To quantify the specific cutaneous phenotype observed in 46 individuals with Costello syndrome with confirmed HRAS mutations. ...Individuals with …
Costello syndrome (CS) is a RASopathy caused by mutations in the HRAS gene, a key regulator of signal transduction. OBJECTIVE: To quantify t …
Concurrent occurrence of an inherited 16p13.11 microduplication and a de novo 19p13.3 microdeletion involving MAP2K2 in a patient with developmental delay, distinctive facial features, and lambdoid synostosis.
Shimojima K, Ondo Y, Matsufuji M, Sano N, Tsuru H, Oyoshi T, Higa N, Tokimura H, Arita K, Yamamoto T. Shimojima K, et al. Eur J Med Genet. 2016 Nov;59(11):559-563. doi: 10.1016/j.ejmg.2016.10.006. Epub 2016 Oct 14. Eur J Med Genet. 2016. PMID: 27751966
The patient showed a paternally inherited 16p13.11 microduplication and a de novo 19p13.3 microdeletion involving the mitogen-activated protein kinase kinase 2 gene (MAP2K2), in which mutations cause the cardio-facio-cutaneous (CFC) syndrome. Reports of patients with overl …
The patient showed a paternally inherited 16p13.11 microduplication and a de novo 19p13.3 microdeletion involving the mitogen-activat …
12 results