Results 1 to 10 of about 1,575 (156)

Updated ACMG/AMP specifications for variant interpretation and gene curations from the ClinGen RASopathy expert panels [PDF]

Genetics in Medicine Open
Purpose: The ClinGen RASopathy (RAS) Variant Curation Expert Panel (VCEP) previously established RASopathy specifications to the American College of Medical Genetics and Genomics (ACMG) and Association of Molecular Pathology (AMP) variant classification ...
Heather Mason-Suares, Kate Garber, Bruce Gelb   +2 more
exaly   +4 more sources

Defining RASopathy [PDF]

Disease Models & Mechanisms, 2022
The term RASopathy was originally created to describe a phenotypically similar group of medical genetic syndromes caused by germline pathogenic variants in components of the RAS/mitogen-activated protein kinase (RAS/MAPK) pathway. In defining a RASopathy
Katherine A. Rauen
doaj   +3 more sources

The impact of genotype-phenotype on the prognosis of children with hypertrophic cardiomyopathyCentral MessagePerspective [PDF]

JTCVS Open
Objective: To investigate the relationship between different genotypes and clinical phenotypes within a pediatric hypertrophic cardiomyopathy (HCM) population and explore the impact of various genotypes on patient outcomes.
Yabing Duan, MD, Ju Wang, MD, Jiachen Li, MD, Lizhi Lv, MD, Qiang Wang, MD, Jun Yan, MD   +5 more
doaj   +2 more sources

RASopathies and cardiac manifestations

Frontiers in Cardiovascular Medicine, 2023
As binary switches, RAS proteins switch to an ON/OFF state during signaling and are on a leash under normal conditions. However, in RAS-related diseases such as cancer and RASopathies, mutations in the genes that regulate RAS signaling or the RAS itself ...
Nazia Hilal, Nazia Hilal, Nazia Hilal, Zi Chen, Zi Chen, Ming Hui Chen, Ming Hui Chen, Sangita Choudhury, Sangita Choudhury, Sangita Choudhury   +9 more
doaj   +3 more sources

The RASopathies: from pathogenetics to therapeutics [PDF]

Disease Models & Mechanisms, 2022
The RASopathies are a group of disorders caused by a germline mutation in one of the genes encoding a component of the RAS/MAPK pathway. These disorders, including neurofibromatosis type 1, Noonan syndrome, cardiofaciocutaneous syndrome, Costello ...
Katie E. Hebron, Edjay Ralph Hernandez, Marielle E. Yohe   +2 more
doaj   +3 more sources

Diagnoses of double heterozygous NF1 variants and dual RASopathy [PDF]

Molecular and Cellular Pediatrics
Genetic testing in neurofibromatosis type 1 (NF1) occasionally reveals two heterozygous NF1 variants in the same individual. Correct interpretation hinges on allelic phasing, elucidation of somatic second hits in lesions, and distinction from bona fide ...
Daniela Angelova-Toshkina, Denny Schanze, Pia Vaassen, Michael C. Frühwald, Thorsten Rosenbaum, Martin Zenker, Michaela Kuhlen   +6 more
doaj   +2 more sources

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 ...
Ken K Nischal, Mostafa Haredy, Jesse Goldstein   +2 more
exaly   +2 more sources

Germline activating sequence variations in RASopathy spectrum genes: genotype–phenotype correlation in a North Indian cohort [PDF]

Frontiers in Genetics
BackgroundRASopathies represent a group of genetically heterogeneous developmental disorders caused by germline variants in genes regulating the RAS/MAPK signalling pathway.
Shifali Gupta, Priyanka Srivastava, Roshan Daniel, Chitra Bhardwaj, Parminder Kaur, Pratibha Bawa, Anu Kumari, Ravi Pratap Singh Bhadoriya, Mrinali Peters, Anupriya Kaur, Inusha Panigrahi   +10 more
doaj   +2 more sources

Natural History and Outcomes in Paediatric RASopathy-Associated Hypertrophic Cardiomyopathy

ESC Heart Failure
Aims This study aimed to describe the natural history and predictors of all‐cause mortality and sudden cardiac death (SCD)/equivalent events in children with a RASopathy syndrome and hypertrophic cardiomyopathy (HCM).
Olga Boleti, Sujeev Mathur, Katie Linter   +2 more
exaly   +2 more sources

Expanding the Noonan spectrum/RASopathy NGS panel: Benefits of adding NF1 and SPRED1

Molecular Genetics & Genomic Medicine, 2020
Background RASopathies are a group of disorders caused by disruptions to the RAS‒MAPK pathway. Despite being in the same pathway, Neurofibromatosis Type 1 (NF1) and Legius syndrome (LS) typically present with phenotypes distinct from Noonan spectrum ...
Mitchell W Dillon, Heather Mason-Suares, Matthew Lebo   +2 more
exaly   +2 more sources