Results 51 to 60 of about 1,575 (156)

MEK inhibition ameliorates social behavior phenotypes in a Spred1 knockout mouse model for RASopathy disorders

Molecular Autism, 2021
Background RASopathies are a group of disorders that result from mutations in genes coding for proteins involved in regulating the Ras-MAPK signaling pathway, and have an increased incidence of autism spectrum disorder (ASD).
Sarah C. Borrie, Ellen Plasschaert, Zsuzsanna Callaerts-Vegh, Akihiko Yoshimura, Rudi D’Hooge, Ype Elgersma, Steven A. Kushner, Eric Legius, Hilde Brems   +8 more
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Nevus Sebaceus Is a Mosaic RASopathy [PDF]

Journal of Investigative Dermatology, 2013
The recent discovery that nevus sebaceus is a mosaic RASopathy represents a major breakthrough in research on epidermal nevi. In this issue, both Levinsohn et al. and Sun et al. confirm this advancement with results obtained through whole-exome sequencing.
openaire   +3 more sources

The Noonan Syndrome-linked Raf1L613V mutation drives increased glial number in the mouse cortex and enhanced learning.

PLoS Genetics, 2019
RASopathies are a family of related syndromes caused by mutations in regulators of the RAS/Extracellular Regulated Kinase 1/2 (ERK1/2) signaling cascade that often result in neurological deficits.
Michael C Holter, Lauren T Hewitt, Stephanie V Koebele, Jessica M Judd, Lei Xing, Heather A Bimonte-Nelson, Cheryl D Conrad, Toshiyuki Araki, Benjamin G Neel, William D Snider, Jason M Newbern   +10 more
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Biomarker Landscape in RASopathies

International Journal of Molecular Sciences
RASopathies are a group of related genetic disorders caused by mutations in genes within the RAS/MAPK signaling pathway. This pathway is crucial for cell division, growth, and differentiation, and its disruption can lead to a variety of developmental and health issues.
Noemi Ferrito, Juan Báez-Flores, Mario Rodríguez-Martín, Julián Sastre-Rodríguez, Alessio Coppola, María Isidoro-García, Pablo Prieto-Matos, Jesus Lacal   +7 more
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Cardiac abnormalities and clinical follow-up in children with noonan syndrome: A single-center retrospective study

Medicine Science
Noonan Syndrome (NS) is a RASopathy with a high burden of congenital heart disease. This study aims to summarize the demographic characteristics, cardiovascular findings, genetic results, applied interventions, and follow-up outcomes of pediatric NS ...
Emine Yurdakul Erturk, Taner Kasar
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The impact of RASopathy-associated mutations on CNS development in mice and humans

Molecular Brain, 2019
The RAS signaling pathway is involved in the regulation of developmental processes, including cell growth, proliferation, and differentiation, in the central nervous system (CNS).
Minkyung Kang, Yong-Seok Lee
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Haploinsufficiency of RREB1 causes a Noonan-like RASopathy via epigenetic reprogramming of RAS-MAPK pathway genes

Nature Communications, 2020
Mutations in RAS-MAPK pathway genes are implicated in Noonan-spectrum, yet up to 20% of cases have unknown cause. Here, the authors identify RREB1 underlying a 6p microdeletion RASopathy-like syndrome and show that RREB1, SIN3A and KDM1A form a ...
Oliver A. Kent, Manipa Saha, Etienne Coyaud, Helen E. Burston, Napoleon Law, Keith Dadson, Sujun Chen, Estelle M. Laurent, Jonathan St-Germain, Ren X. Sun, Yoshinori Matsumoto, Justin Cowen, Aaryn Montgomery-Song, Kevin R. Brown, Charles Ishak, Jose La Rose, Daniel D. De Carvalho, Housheng Hansen He, Brian Raught, Filio Billia, Peter Kannu, Robert Rottapel   +21 more
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Nf1 Loss and Ras Hyperactivation in Oligodendrocytes Induce NOS-Driven Defects in Myelin and Vasculature

Cell Reports, 2013
Patients with neurofibromatosis type 1 (NF1) and Costello syndrome Rasopathy have behavioral deficits. In NF1 patients, these may correlate with white matter enlargement and aberrant myelin.
Debra A. Mayes, Tilat A. Rizvi, Haley Titus-Mitchell, Rachel Oberst, Georgianne M. Ciraolo, Charles V. Vorhees, Andrew P. Robinson, Stephen D. Miller, Jose A. Cancelas, Anat O. Stemmer-Rachamimov, Nancy Ratner   +10 more
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Mek1Y130C mice recapitulate aspects of human cardio-facio-cutaneous syndrome

Disease Models & Mechanisms, 2018
The RAS/MAPK signaling pathway is one of the most investigated pathways, owing to its established role in numerous cellular processes and implication in cancer.
Rifdat Aoidi, Nicolas Houde, Kim Landry-Truchon, Michael Holter, Kevin Jacquet, Louis Charron, Suguna Rani Krishnaswami, Benjamin D. Yu, Katherine A. Rauen, Nicolas Bisson, Jason Newbern, Jean Charron   +11 more
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Impact of MEK Inhibition on Childhood RASopathy-Associated Hypertrophic Cardiomyopathy

JACC: Basic to Translational Science
Summary: There is an unmet medical need to treat patients with severe hypertrophic cardiomyopathy leading to heart failure and death in children carrying pathogenic activating variants in the RAS/mitogen-activated protein kinase pathway.
Cordula M. Wolf, MD, Martin Zenker, MD, Olga Boleti, MD, Gabrielle Norrish, MD, Mark Russell, MD, Joshua K. Meisner, MD, PhD, David M. Peng, MD, Terence Prendiville, MBDchBAO, MD, Jake Kleinmahon, MD, Paul F. Kantor, MBBCh, Danielle Gottlieb Sen, MS, MD, MPH, Derek G. Human, BMBCh, Peter Ewert, MD, Marcus Krueger, MD, Daniela Reber, MD, Birgit Donner, MD, Christopher Hart, MD, Irena Odri Komazec, MD, PhD, Stefan Rupp, MD, Andreas Hahn, MD, Anja Hanser, MD, Michael Hofbeck, MD, Jos M.T. Draaisma, MD, Floris E.A. Udink ten Cate, MD, Alessandro Mussa, MD, PhD, Giovanni B. Ferrero, MD, PhD, Laurence Vaujois, MD, Marie-Josée Raboisson, MD, Marie-Ange Delrue, MD, Christopher Marquis, PhD, MD, Yves Théoret, PhD, MD, Soujanya Bogarapu, MD, Adrian Dancea, MD, Mette Moller Handrup, PhD, Mariska Kemna, MD, Tiina Ojala, MD, PhD, Niti Dham, MD, Frank Dicke, MD, Tim Friede, PhD, Juan Pablo Kaski, MD(Res), Bruce D. Gelb, MD, Gregor Andelfinger, MD   +41 more
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