Results 51 to 60 of about 7,783 (160)

RAS diseases in children

Haematologica, 2014
RAS genes encode a family of 21 kDa proteins that are an essential hub for a number of survival, proliferation, differentiation and senescence pathways. Signaling of the RAS-GTPases through the RAF-MEK-ERK pathway, the first identified mitogen-associated
Charlotte M. Niemeyer
doaj   +1 more source

The WHO Classification of Genetic Tumour Syndromes: Considerations for Genetics

Clinical Genetics, Volume 110, Issue 3, Page 389-401, September 2026.
The WHO Classification of Tumours underpins the diagnosis of neoplastic conditions. The new WHO classification of genetic tumour syndromes (GTS) provides international standards for their diagnosis. This diagram highlights the chromosomal distribution of the genes involved in the GTS covered in this classification.
Ian A. Cree, Mark J. Arends, Joseph D. Khoury, Erika R. E. Denton, Anthony J. Gill, Alexander J. Lazar, Ian M. Frayling, Stefan M. Pfister, Mark A. Rubin, Katia R. M. Leite, Raymond Dalgleish, Elspeth A. Bruford, Sharon E. Plon, Ada Hamosh, Michael Francis Walsh, Gabrielle Goldman‐Lévy, Harshima Wijesinghe, William D. Foulkes, Dilani Lokuhetty   +18 more
wiley   +1 more source

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

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

Increased Risk of Sarcomas in Children With Congenital Anomalies: Findings From the Genetic Overlap Between Anomalies and Cancer in Kids (GOBACK) Registry Linkage Study

Pediatric Blood &Cancer, Volume 73, Issue 8, August 2026.
ABSTRACT Background Pediatric sarcomas are a heterogeneous group of tumors that contribute disproportionately to cancer mortality in children. Although congenital anomalies are among the strongest known risk factors for childhood cancer, the risk of specific sarcoma subtypes among affected individuals has not yet been thoroughly evaluated. Procedure We
Russ Wolters, Ji Yun Tark, Tiffany M. Chambers, Tania A. Desrosiers, Michael E. Scheurer, Charles Shumate, Wendy N. Nembhard, Mahsa M. Yazdy, Eirini Nestoridi, Amanda E. Janitz, Jean Paul Tanner, Russell S. Kirby, Jason L. Salemi, Yao Yu, Chad D. Huff, Sharon E. Plon, Philip J. Lupo, Jeremy M. Schraw   +17 more
wiley   +1 more source

Noonan syndrome: genetic and clinical update and treatment options

Anales de Pediatría (English Edition), 2020
Noonan syndrome (NS) is a relatively common genetic condition characterised by short stature, congenital heart defects, and distinctive facial features.NS and other clinically overlapping conditions such as NS with multiple lentigines (formerly called ...
Atilano Carcavilla, Larisa Suárez-Ortega, Amparo Rodríguez Sánchez, Isabel Gonzalez-Casado, Marta Ramón-Krauel, Jose Ignacio Labarta, Sofia Quinteiro Gonzalez, Isolina Riaño Galán, Juan Pedro López-Siguero   +8 more
doaj   +1 more source

The 9th International RASopathies Symposium

American Journal of Medical Genetics Part A, Volume 200, Issue 8, Page 1934-1941, August 2026.
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
wiley   +1 more source

Disentangling Counter‐Empathy: Developing a Three‐Dimensional Model and Measure of Dispositional Counter‐Empathy

Journal of Personality, Volume 94, Issue 4, Page 584-601, August 2026.
ABSTRACT Objectives Counter‐empathy involves responding to others' assumed emotions incongruently. Research on dispositional counter‐empathy predominantly focuses on specific counter‐empathic constructs without clearly mapping its cardinal dimensions.
Jake R. Siamro, Christian H. Jordan
wiley   +1 more source

Economic effects of disease outbreaks on U.S. salmonid farms

Journal of the World Aquaculture Society, Volume 57, Issue 4, August 2026.
Abstract The U.S. salmonid industry is the second‐largest finfish sector of U.S. aquaculture, contributing $886 million and more than 2000 jobs to the U.S. economy in 2022. The goal of this study was to develop an economic analysis of the impact of losses from disease outbreaks to the U.S. salmonid industry.
Carole Engle, Shraddha Hegde, Jonathan van Senten, Ganesh Kumar, Christine Ellis, Gary Fornshell   +5 more
wiley   +1 more source

Molecular mechanisms of autism as a form of synaptic dysfunction

Вавиловский журнал генетики и селекции, 2017
Autism spectrum disorders are a separate group of defects with a very high genetic component. Genetic screening has identified hundreds of mutations and other genetic variations associated with autism, and bioinformatic analysis of signaling pathways and
E. A. Trifonova, T. M. Khlebodarova, N. E. Gruntenko   +2 more
doaj   +1 more source