Results 41 to 50 of about 2,361 (178)

Mitochondria and the future of RASopathies: the emergence of bioenergetics

The Journal of Clinical Investigation, 2022
RASopathies are a family of rare autosomal dominant disorders that affect the canonical Ras/MAPK signaling pathway and manifest as neurodevelopmental systemic syndromes, including Costello syndrome (CS). In this issue of the JCI, Dard et al. describe the
Maria I. Kontaridis, Saravanakkumar Chennappan   +1 more
doaj   +1 more source

Severe ADEM‐Like Neuroinflammatory Disease and Cerebrovascular Fragility With Recurrent Pseudoaneurysms and Moyamoya in a Familial Germline CBL Mutation: Expanding the Clinical Phenotype

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous germline variants in CBL disrupt its function as a negative regulator of the Ras/MAPK pathway, classically predisposing to Juvenile myelomonocytic leukemia (JMML) and moyamoya. We describe two affected siblings carrying a paternally inherited CBL variant (c.1210 T> C, p.
Michal Bar‐Hakim, Anat Abramovich, Sara Via‐Dorembus, Gali Heimer, Bruria Ben‐Zeev, Etai Adam, Assaf A. Barg, Jonathan Roth, Basheer Sheick‐Yousif, Rony Beeri Berkowiz, Michal Feldon, Haim Bassan, Moran Hausman‐Kedem   +12 more
wiley   +1 more source

Neurodevelopmental Aspects of RASopathies

Molecules and Cells, 2019
RAS gene mutations are frequently found in one third of human cancers. Affecting approximately 1 in 1,000 newborns, germline and somatic gain-of-function mutations in the components of RAS/mitogen-activated protein kinase (RAS/MAPK) pathway has been shown to cause developmental disorders, known as RASopathies.
Ye Eun Kim, Seung Tae Baek
openaire   +2 more sources

Progress report on new epilepsy treatments: A summary of the Eighteenth Eilat Conference on New Antiepileptic Drugs and Devices (EILAT XVIII). I. Treatments in preclinical and early clinical development

Epilepsia, EarlyView.
Abstract Over the last 34 years, the Eilat Conference on New Antiepileptic Drugs and Devices has provided an interactive forum for stakeholders to discuss investigational and recently licensed treatments for seizures and epilepsy. The Eighteenth Eilat Conference on New Antiepileptic Drugs and Devices (EILAT XVIII) took place in Madrid, Spain, on May 3 ...
Meir Bialer, Cecilie Johannessen Landmark, Matthias J. Koepp, Emilio Perucca, Piero Perucca, Torbjörn Tomson, H. Steve White, Elaine Wirrell   +7 more
wiley   +1 more source

RASopathies: Evolving Concepts in Pathogenetics, Clinical Features, and Management

Indian Dermatology Online Journal
RASopathies refers to the group of disorders which are caused by a mutation in various genes of the RAS/MAPK (RAT sarcoma virus/Mitogen activated protein kinase) pathway.
Jigna Padhiyar, Rahul Mahajan, Maitreyee Panda   +2 more
doaj   +1 more source

MEK Inhibitor Associated Airway Injury in an Infant With Noonan Syndrome: A Case Report

The Laryngoscope, EarlyView.
An infant with Noonan syndrome treated with trametinib developed extensive mucosal sloughing of the upper and lower airway, followed by severe supraglottic scarring. Clinicians should consider airway toxicity as a potential adverse effect of MEK inhibitor therapy.
Veronica Drozdowski‐Nuccio, Rachel D. Yoon, Steven Tomasi, Dana M. Thompson, Inbal Hazkani   +4 more
wiley   +1 more source

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
doaj   +1 more source

Presynaptic Congenital Myasthenic Syndromes

Muscle &Nerve, EarlyView.
ABSTRACT Presynaptic congenital myasthenic syndromes (CMS) encompass a large number of rare neurologic disorders caused by impaired release of acetylcholine (ACh) from motor nerve terminals. There are two main groups of presynaptic CMS: one in which the amount of ACh in synaptic vesicles (SV) is diminished and another in which the mechanism of synaptic
Ricardo A. Maselli
wiley   +1 more source

Naevus sebaceus: a mosaic RASopathy

Clinical and Experimental Dermatology, 2013
Epidermal naevi are common cutaneous mosaic disorders that occur in 0.1-0.3% of live births. They are subdivided into keratinocytic and organoid naevi, the latter including naevus sebaceus (NS). Typically, NS develops as a yellowish-orange plaque on the scalp, and represents a hamartoma containing epidermal, sebaceous and apocrine elements.
Aslam, A., Salam, A., Griffiths, C. E. M., McGrath, J. A.   +3 more
openaire   +4 more sources

RASopathy Gene Mutations in Melanoma [PDF]

Journal of Investigative Dermatology, 2016
Next-generation sequencing of melanomas has unraveled critical driver genes and genomic abnormalities, mostly defined as occurring at high frequency. In addition, less abundant mutations are present that link melanoma to a set of disorders, commonly called RASopathies.
Ruth, Halaban, Michael, Krauthammer
openaire   +2 more sources