Results 21 to 30 of about 2,361 (178)

The RASopathies [PDF]

Annual Review of Genomics and Human Genetics, 2013
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 syndrome, Noonan syndrome with multiple lentigines, capillary malformation ...
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Autism traits in the RASopathies [PDF]

Journal of Medical Genetics, 2013
Background Mutations in Ras/mitogen-activated protein kinase (Ras/MAPK) pathway genes lead to a class of disorders known as RASopathies, including neurofibromatosis type 1 (NF1), Noonan syndrome (NS), Costello syndrome (CS), and cardio-facio-cutaneous syndrome (CFC). Previous work has suggested potential genetic and
Adviento, Brigid, Corbin, Iris L, Widjaja, Felicia, Desachy, Guillaume, Enrique, Nicole, Rosser, Tena, Risi, Susan, Marco, Elysa J, Hendren, Robert L, Bearden, Carrie E, Rauen, Katherine A, Weiss, Lauren A   +11 more
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Cardiofaciocutaneous Syndrome: Case Report of a Rare Disorder [PDF]

Journal of Clinical and Diagnostic Research, 2016
Cardiofaciocutaneous syndrome or CFC syndrome is a rare genetic disorder first described in 1986. It is one of the RASopathies involving multiple organs particularly the heart, skin and face affecting males and females equally.
Soutrik Seth, Tanmoy Biswas, Biswajit Biswas, Atanu Roy, Asok Kumar Datta   +4 more
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Recent advances in RASopathies [PDF]

Journal of Human Genetics, 2015
RASopathies or RAS/mitogen-activated protein kinase (MAPK) syndromes are a group of phenotypically overlapping syndromes caused by germline mutations that encode components of the RAS/MAPK signaling pathway. These disorders include neurofibromatosis type I, Legius syndrome, Noonan syndrome, Noonan syndrome with multiple lentigines (formerly called ...
Yoko, Aoki, Tetsuya, Niihori, Shin-ichi, Inoue, Yoichi, Matsubara   +3 more
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Genetic testing for lymphedema in RASopathies

The EuroBiotech Journal, 2018
Variants affecting the function of genes in the RAS–mitogen-activated protein kinase (MAPK) signal transduction pathway have been identified as responsible for a group of developmental syndromes known as RASopathies.
Paolacci Stefano, Rakhmanov Yeltay, Maltese Paolo Enrico, Bruson Alice, Bertelli Matteo   +4 more
doaj   +1 more source

miRNA Genetic Variants Alter Their Secondary Structure and Expression in Patients With RASopathies Syndromes

Frontiers in Genetics, 2019
RASopathies are a group of rare genetic diseases caused by germline mutations in genes involved in the RAS–mitogen-activated protein kinase (RAS-MAPK) pathway. Whole-exome sequencing (WES) is a powerful approach for identifying new variants in coding and
Joseane Biso de Carvalho, Guilherme Loss de Morais, Thays Cristine dos Santos Vieira, Natana Chaves Rabelo, Juan Clinton Llerena, Sayonara Maria de Carvalho Gonzalez, Ana Tereza Ribeiro de Vasconcelos   +6 more
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Behavioral phenotype of Noonan-like syndrome with loose anagen hair

European Psychiatry, 2022
Introduction Noonan-like syndrome with loose anagen hair (NSLH MIM 607721) is associated to mutations in PTPN11, RAF1, BRAF and SHOC2 genes. Objectives Here, we report behavioral phenotype of a child suspected to have NSLH.
N. Bouayed Abdelmoula
doaj   +1 more source

RASopathy in Patients With Isolated Sagittal Synostosis

Global Pediatric Health, 2019
RASopathy is caused by dysfunction in the MAPK pathway, and include syndromes like Noonan syndrome (NS), NS with multiple lentigines (formerly known as Leopard syndrome), cardiofaciocutaneous (CFC), Legius syndrome, capillary malformation–arteriovenous ...
Amani Ali Davis BA, Giulio Zuccoli MD, Mostafa M. Haredy MD, Joseph Losee MD, Ian F. Pollack MD, Suneeta Madan-Khetarpal MD, Jesse A. Goldstein MD, Ken K. Nischal MD   +7 more
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RASopathies due to de novo pathogenic variants: clinical features, genetic findings and outcomes in nine neonates born with congenital heart defects

BMC Medical Genomics, 2022
Background There are limited information available related to neonatal characteristics of RASopathies, a group of autosomal dominant syndromes with considerable phenotypic overlap. Methods The retrospective review revealed 9 neonates born with congenital
Simin Zheng, Huanyang Huang, Li Ma, Tianwen Zhu   +3 more
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Lymphatic Malformation Responsive to Sirolimus in Keratinocytic Epidermal Nevus Syndrome with KRAS Mutation: A Case and Brief Literature Discussion

Case Reports in Dermatology, 2021
We present a rare case of KRAS keratinocytic epidermal nevus syndrome with lymphatic malformation, responsive to treatment with sirolimus, an mTOR inhibitor.
Emily Sideris, Er Tsing Vivian Tng, Paul Chee   +2 more
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