Results 31 to 40 of about 1,575 (156)

RASopathy Cohort of Patients Enrolled in a Brazilian Reference Center for Rare Diseases: A Novel Familial LZTR1 Variant and Recurrent Mutations

The Application of Clinical Genetics, 2022
Natana Chaves Rabelo,1– 3 Maria Eduarda Gomes,1– 3 Isabelle de Oliveira Moraes,1– 3 Juliana Cantagalli Pfisterer,1– 3 Guilherme Loss de Morais,4 Deborah Antunes,5 Ernesto Raúl Caffarena,6 Juan Llerena Jr,1,2,7,8 Sayonara Gonzalez1– 3 1Centro de Genética ...
Chaves Rabelo N, Gomes ME, de Oliveira Moraes I, Cantagalli Pfisterer J, Loss de Morais G, Antunes D, Caffarena ER, Llerena Jr J, Gonzalez S   +8 more
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Ventral striatum dopamine release encodes unique properties of visual stimuli in mice

eLife, 2023
The mesolimbic dopamine system is an evolutionarily conserved set of brain circuits that play a role in attention, appetitive behavior, and reward processing.
L Sofia Gonzalez, Austen A Fisher, Shane P D'Souza, Evelin M Cotella, Richard A Lang, J Elliott Robinson   +5 more
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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
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Developmental effect of RASopathy mutations on neuronal network activity on a chip

Frontiers in Cellular Neuroscience
RASopathies are a group of genetic disorders caused by mutations in genes encoding components and regulators of the RAS/MAPK signaling pathway, resulting in overactivation of signaling.
Eva-Maria Weiss, Debarpan Guhathakurta, Aneta Petrušková, Aneta Petrušková, Aneta Petrušková, Verena Hundrup, Martin Zenker, Anna Fejtová   +7 more
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Qualitative differences in disease-associated MEK mutants reveal molecular signatures and aberrant signaling-crosstalk in cancer

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, Yuko Fujioka, Ashwini Patil, Yusuke Takagi, Daisuke Matsubara, Masatomi Iijima, Isao Momose, Ryosuke Naka, Kenta Nakai, Nobuo N. Noda, Mutsuhiro Takekawa   +10 more
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A Pain in the Neck: Lessons Learnt from Genetic Testing in Fetuses Detected with Nuchal Fluid Collections, Increased Nuchal Translucency versus Cystic Hygroma—Systematic Review of the Literature, Meta-Analysis and Case Series

Diagnostics, 2022
Fetal Nuchal fluid collections can manifest with two distinct presentations attributable to the same phenotypic spectrum: increased nuchal translucency (iNT) and cystic hygroma.
Gioia Mastromoro, Daniele Guadagnolo, Nader Khaleghi Hashemian, Laura Bernardini, Antonella Giancotti, Gerardo Piacentini, Alessandro De Luca, Antonio Pizzuti   +7 more
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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
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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
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Nevus Sebaceus of Jadassohn: A Clinicopathological and Dermoscopic Study with Management Implications

Bezmiâlem Science
Objective: Nevus sebaceus (NS) of Jadassohn is a congenital hamartoma that undergoes stage-dependent morphological changes. Although malignant transformation is rare, long-term monitoring is advised.
Gökhan KAYA, Melin ÖZGÜN GEÇER, Ceren ALAVANDA, Ayşegül YABACI TAK   +3 more
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Management of rasopathies [PDF]

International Journal of Pediatric Endocrinology, 2013
Noonan syndrome (NS) and NS-related disorders (Cardio-Facio-Cutaneous (CFC) syndrome, Costello syndrome, LEOPARD (Lentigines, ECG conduction abnormalities, Ocular hypertelorism, Pulmonic stenosis, Abnormal genitalia, Retardation of growth and sensory neural Deafness) syndrome) share common clinical features characterized by unique facial features ...
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