Results 31 to 40 of about 2,361 (178)
Orphanet Journal of Rare Diseases, 2021 Background RASopathies are a group of syndromes showing clinical overlap caused by mutations in genes affecting the RAS-MAPK pathway. Consequent disruption on cellular signaling leads and is driven by phosphoproteome remodeling.
Javier-Fernando Montero-Bullón +3 more
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Integrating Functional Analysis in the Next-Generation Sequencing Diagnostic Pipeline of RASopathies
Scientific Reports, 2018 RASopathies are a group of heterogeneous conditions caused by germline mutations in RAS/MAPK signalling pathway genes. With next-generation sequencing (NGS), sequencing capacity is no longer a limitation to molecular diagnosis. Instead, the rising number
Gordon K. C. Leung +16 more
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THE EFFECTIVENESS OF PTPN11 GENE ANALYSIS IN THE PRENATAL DIAGNOSIS OF NOONAN SYNDROME
İstanbul Tıp Fakültesi Dergisi, 2021 Objective: Dominant pathogenic variants in 29 RAS-MAPK (Rat-sarcoma-Mitogen-activated-protein-kinase) pathway genes, important for the regulation of cell growth, differentiation, aging and cell-cycle, are responsible for RASopathies, Noonan syndrome (NS)
Güven Toksoy +8 more
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RASopathies: unraveling mechanisms with animal models
Disease Models & Mechanisms, 2015 RASopathies are developmental disorders caused by germline mutations in the Ras-MAPK pathway, and are characterized by a broad spectrum of functional and morphological abnormalities.
Granton A. Jindal +4 more
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Orphanet Journal of Rare Diseases, 2021 Background Abnormalities of the immune system are rarely reported in patients affected by RASopathies. Aim of the current study was to investigate the prevalence of immune system dysfunction in a cohort of patients affected by RASopathies. Study design A
M. A. Siano +16 more
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Cardiac imaging in RASopathies/mitogen activated protein kinase syndromes
Cardiogenetics, 2014 RASopathies include a spectrum of disorders due to dysregulation of RAS/mitogen activated protein kinase pathway that plays an essential role in the control of the cell cycle and differentiation.
Rita Gravino, Giuseppe Pacileo
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Non-Mammalian Models for Understanding Neurological Defects in RASopathies
BiomedicinesRASopathies, a group of neurodevelopmental congenital disorders stemming from mutations in the RAS/MAPK pathway, present a unique opportunity to delve into the intricacies of complex neurological disorders.
Mario Rodríguez-Martín +5 more
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Multidisciplinary Management of Costello Syndrome: Current Perspectives
Journal of Multidisciplinary Healthcare, 2022 Chiara Leoni,1 Germana Viscogliosi,1 Marco Tartaglia,2 Yoko Aoki,3 Giuseppe Zampino1,4 1Center for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario “A.
Leoni C +4 more
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Nature Communications, 2022 MEK1 mutations are found in cancer and RASopathies, but their effects remain unclear. Here, the authors reveal a mutant MEK1 structure and qualitative differences in biological properties between the cancer- and RASopathy-associated mutants, providing ...
Yuji Kubota +10 more
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Assessment of Growth in Cardio‐Facio‐Cutaneous Syndrome
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Cardio‐facio‐cutaneous (CFC) syndrome is a rare, multiple congenital anomaly disorder in which individuals commonly experience faltering growth; however, systematic analysis of growth parameters in this disorder has not been performed. We recruited 69 participants with CFC through CFC International and collected data on assessing height ...
Kari Johnston +6 more
wiley +1 more source