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Page 1
The RASopathies.
Rauen KA. Rauen KA. Annu Rev Genomics Hum Genet. 2013;14:355-69. doi: 10.1146/annurev-genom-091212-153523. Epub 2013 Jul 15. Annu Rev Genomics Hum Genet. 2013. PMID: 23875798 Free PMC article. Review.
The RASopathies are a clinically defined group of medical genetic syndromes caused by germline mutations in genes that encode components or regulators of the Ras/mitogen-activated protein kinase (MAPK) pathway. These disorders include neurofibromatosis type 1, Noonan sy …
The RASopathies are a clinically defined group of medical genetic syndromes caused by germline mutations in genes that encode components or …
The Cardiofaciocutaneous Syndrome: From Genetics to Prognostic-Therapeutic Implications.
Scorrano G, David E, Calì E, Chimenz R, La Bella S, Di Ludovico A, Di Rosa G, Gitto E, Mankad K, Nardello R, Mangano GD, Leoni C, Ceravolo G. Scorrano G, et al. Genes (Basel). 2023 Nov 22;14(12):2111. doi: 10.3390/genes14122111. Genes (Basel). 2023. PMID: 38136934 Free PMC article. Review.
It is an autosomal dominant syndrome, with complete penetrance, caused by heterozygous pathogenic variants in the genes BRAF, MAP2K1/MEK1, MAP2K2/MEK2, KRAS or, rarely, YWHAZ, all part of the RAS-MAPK pathway. This pathway is a signal transduction cascade that plays a cruc …
It is an autosomal dominant syndrome, with complete penetrance, caused by heterozygous pathogenic variants in the genes BRAF, MAP2K1/ …
Skeletal defects and bone metabolism in Noonan, Costello and cardio-facio-cutaneous syndromes.
Papadopoulou A, Bountouvi E. Papadopoulou A, et al. Front Endocrinol (Lausanne). 2023 Oct 27;14:1231828. doi: 10.3389/fendo.2023.1231828. eCollection 2023. Front Endocrinol (Lausanne). 2023. PMID: 37964950 Free PMC article. Review.
Noonan, Costello and Cardio-facio-cutaneous syndromes belong to a group of disorders named RASopathies due to their common pathogenetic origin that lies on the Ras/MAPK signaling pathway. ...
Noonan, Costello and Cardio-facio-cutaneous syndromes belong to a group of disorders named RASopathies due to their common pathogenet …
The impact of growth hormone therapy on adult height in noonan syndrome: a systematic review.
Giacomozzi C, Deodati A, Shaikh MG, Ahmed SF, Cianfarani S. Giacomozzi C, et al. Horm Res Paediatr. 2015;83(3):167-76. doi: 10.1159/000371635. Epub 2015 Feb 21. Horm Res Paediatr. 2015. PMID: 25721697 Free article. Review.
BACKGROUND: Recombinant human growth hormone (rhGH) is being used to promote linear growth in short children with Noonan syndrome. However, its efficacy is still controversial. AIMS: To systematically determine the impact of rhGH therapy on adult height in children …
BACKGROUND: Recombinant human growth hormone (rhGH) is being used to promote linear growth in short children with Noonan syndrome …
Bone status in genetic syndromes: a review.
Stagi S, Iurato C, Lapi E, Cavalli L, Brandi ML, de Martino M. Stagi S, et al. Hormones (Athens). 2015 Jan-Mar;14(1):19-31. doi: 10.1007/BF03401378. Hormones (Athens). 2015. PMID: 25885101 Free article. Review.
This review provides an updated overview of bone pathophysiology and characteristics in patients with Down, Turner, Klinefelter, Marfan, Williams, Prader-Willi, Noonan, and 22q11 deletions syndrome. In addition, some options for the treatment of the bone status impa …
This review provides an updated overview of bone pathophysiology and characteristics in patients with Down, Turner, Klinefelter, Marfan, Wil …
Molecular screening strategies for NF1-like syndromes with café-au-lait macules (Review).
Zhang J, Li M, Yao Z. Zhang J, et al. Mol Med Rep. 2016 Nov;14(5):4023-4029. doi: 10.3892/mmr.2016.5760. Epub 2016 Sep 22. Mol Med Rep. 2016. PMID: 27666661 Free PMC article. Review.
However, a group of genetic disorders presenting with CALM have mutations that are involved in human skin pigmentation regulation signaling pathways, including KIT ligand/KIT proto-oncogene receptor tyrosine kinase and Ras/mitogen-activated protein kinase. These disorders, which …
However, a group of genetic disorders presenting with CALM have mutations that are involved in human skin pigmentation regulation signaling …
Structure, function, and pathogenesis of SHP2 in developmental disorders and tumorigenesis.
Huang WQ, Lin Q, Zhuang X, Cai LL, Ruan RS, Lu ZX, Tzeng CM. Huang WQ, et al. Curr Cancer Drug Targets. 2014;14(6):567-88. doi: 10.2174/1568009614666140717105001. Curr Cancer Drug Targets. 2014. PMID: 25039348 Review.
Dysfunction of SHP2 resulting from pathogenic mutations and aberrant expression leads to the dysregulation of multiple signaling pathways, thus contributing to different human disorders. Germline and somatic mutations in PTPN11 are involved in Noonan syndrome (NS), …
Dysfunction of SHP2 resulting from pathogenic mutations and aberrant expression leads to the dysregulation of multiple signaling pathways, t …
Prenatal diagnosis and postnatal outcome of fetal congenital knee dislocation: systematic review of literature.
Cavoretto PI, Castoldi M, Corbella G, Forte A, Moharamzadeh D, Emedoli D, Candiani M, De Pellegrin M. Cavoretto PI, et al. Ultrasound Obstet Gynecol. 2023 Dec;62(6):778-787. doi: 10.1002/uog.26283. Ultrasound Obstet Gynecol. 2023. PMID: 37289939 Review.
The median gestational age at prenatal diagnosis, which was made using ultrasound in most cases, was 20 weeks (range, 14-38 weeks). Bilaterality was observed in 11/20 (55%) cases. The condition was isolated in 7/20 (35%) cases and associated with other anomalies in 13/20 ( …
The median gestational age at prenatal diagnosis, which was made using ultrasound in most cases, was 20 weeks (range, 14-38 weeks). B …
SHP-2 regulates growth factor dependent vascular signalling and function.
Mannell H, Krotz F. Mannell H, et al. Mini Rev Med Chem. 2014;14(6):471-83. doi: 10.2174/1389557514999140506094738. Mini Rev Med Chem. 2014. PMID: 22512561 Review.
Finally, mutations in the Ptpn11 gene (encoding SHP-2) underlie the developmental disorders Noonan syndrome and Leopard syndrome characterized by congenital heart disease and hematologic abnormalities. ...
Finally, mutations in the Ptpn11 gene (encoding SHP-2) underlie the developmental disorders Noonan syndrome and Leopard syn …
24 results