Results 61 to 70 of about 1,575 (156)

Data on cardiac defects, morbidity and mortality in patients affected by RASopathies. CARNET study results

Data in Brief, 2018
A comprehensive description of morbidity and mortality in patients affected by mutations in genes encoding for signal transducers of the RAS-MAPK cascade (RASopathies) was performed in our study recently published in the International Journal of ...
Giulio Calcagni, Giuseppe Limongelli, Angelo D'Ambrosio, Francesco Gesualdo, Maria Cristina Digilio, Anwar Baban, Sonia B. Albanese, Paolo Versacci, Enrica De Luca, Giovanni B. Ferrero, Giuseppina Baldassarre, Gabriella Agnoletti, Elena Banaudi, Jan Marek, Juan P. Kaski, Giulia Tuo, Maria Giovanna Russo, Giuseppe Pacileo, Ornella Milanesi, Daniela Messina, Maurizio Marasini, Francesca Cairello, Roberto Formigari, Maurizio Brighenti, Bruno Dallapiccola, Marco Tartaglia, Bruno Marino   +26 more
doaj   +1 more source

Ras-MAPK pathway in patients with lupus nephritis

Lupus Science and Medicine
Background Pathogenic mutations in genes encoding components of the Ras/mitogen-activated protein kinase (Ras-MAPK) pathway cause RASopathy. Here, we describe five unrelated patients with SLE carrying mutations associated with RASopathy and investigate ...
Dandan Liang, Zhihong Liu, Haitao Zhang, Changming Zhang, Jiahui Zhang, Ying Jin, Qing Zhong, JingXian Yu, Yangyang Zhang, Xiaoman Jing, Xingjian Gao   +10 more
doaj   +1 more source

Editorial: Molecular pathogenesis and novel treatments for inherited cardiomyopathies

Frontiers in Cardiovascular Medicine, 2023
Chun Chou, Hilary J. Vemon, John L. Jefferies, Michael T. Chin, Michael T. Chin   +4 more
doaj   +1 more source

Mechanisms underlying cognitive deficits in a mouse model for Costello Syndrome are distinct from other RASopathy mouse models

Scientific Reports, 2017
RASopathies, characterized by germline mutations in genes encoding proteins of the RAS-ERK signaling pathway, show overlapping phenotypes, which manifest themselves with a varying severity of intellectual disability. However, it is unclear to what extent
Jadwiga Schreiber, Laura-Anne Grimbergen, Iris Overwater, Thijs van der Vaart, Jeffrey Stedehouder, Alberto J. Schuhmacher, Carmen Guerra, Steven A. Kushner, Dick Jaarsma, Ype Elgersma   +9 more
doaj   +1 more source

Autism spectrum disorder profiles in RASopathies: A systematic review

Molecular Genetics & Genomic Medicine
Background RASopathies are associated with an increased risk of autism spectrum disorder (ASD). For neurofibromatosis type 1 (NF1) there is ample evidence for this increased risk, while for other RASopathies this association has been studied less.
Edward Debbaut, Jean Steyaert, Mouna El Bakkali   +2 more
doaj   +1 more source

Editorial: Identifying the isoform-specific roles of RAS paralogs in health and disease

Frontiers in Cell and Developmental Biology, 2023
Saeideh Nakhaei-Rad, Saeideh Nakhaei-Rad, Anna Fejtova   +2 more
doaj   +1 more source

The 9th International RASopathies Symposium

American Journal of Medical Genetics Part A
ABSTRACT The RASopathies are a group of congenital disorders with overlapping clinical manifestations that are caused by pathogenic germline or early somatic variants that result in the hyperactivation of the RAS/mitogen‐activated protein kinase (MAPK) signaling pathway.
Pau Castel, Lisa Schoyer, Beth Stronach, Raya Bogdanova, Anton M. Bennett, Jaishri Blakeley, Miriam Bornhorst, Tammy Bowers, Saskia M. Brachmann, Emma Burkitt‐Wright, Kathryn Chatfield, Alessandro De Luca, Khalil El‐Chammas, Abdul Elkadri, John E. Fortunato, Bruce D. Gelb, Anne Goriely, Karen Gripp, Kassidy Grover, Lindsay Homan, Kenneth A. Kern, Maija Kiuru, Charles (Chuck) Lawson, Yong‐Seok Lee, Frank McCormick, Gina Ney, Cristina Nuevo‐Tapioles, Sara Pardej, Elizabeth I. Pierpont, Julia Plank, Nancy Ratner, Katherine A. Rauen, J. Elliott Robinson, Les Rogers, Sarah E. Sheppard, Keir Shiels, David Stevenson, Dagmar Tiemens, Matthew Traylor, K. Nicole Weaver, Marielle Yohe, Tamar Green   +41 more
openaire   +2 more sources

Pulmonary Hypertension in the RASopathies

jcvm, 2019
The RASopathies are a class of developmental disorders caused by a genetic mutation in the Ras signaling pathway and asso ciated mitogen-activated protein kinases that control the cell cycle, differentiation and senescence. These diseases encompass a diverse set of clinical syndromes including neurofibromatosis type 1 and Noonan syndrome.
openaire   +1 more source

Combined HRAS and NRAS ablation induces a RASopathy phenotype in mice

Cell Communication and Signaling
Background HRASKO/NRASKO double knockout mice exhibit exceedingly high rates of perinatal lethality due to respiratory failure caused by a significant lung maturation delay.
Rocío Fuentes-Mateos, Rósula García-Navas, Cristina Fernández-Infante, Luis Hernández-Cano, Nuria Calzada-Nieto, Andrea Olarte-San Juan, Carmen Guerrero, Eugenio Santos, Alberto Fernández-Medarde   +8 more
doaj   +1 more source

Characterisation and prognostic implications of the 12-lead electrocardiogram in children with RASopathy-associated hypertrophic cardiomyopathy. [PDF]

Heart
Boleti O, Sunjaya A, Field E, Norrish G, Tollit J, Cervi E, Kaski JP.   +6 more
europepmc   +1 more source