Results 11 to 20 of about 2,361 (178)

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   +3 more sources

Undiagnosed RASopathies in infertile men [PDF]

Frontiers in Endocrinology
RASopathies are syndromes caused by congenital defects in the Ras/mitogen-activated protein kinase (MAPK) pathway genes, with a population prevalence of 1 in 1,000.
Anna-Grete Juchnewitsch, Kristjan Pomm, Avirup Dutta, Erik Tamp, Anu Valkna, Kristiina Lillepea, Eisa Mahyari, Stanislav Tjagur, Galina Belova, Viljo Kübarsepp, Viljo Kübarsepp, Helen Castillo-Madeen, Antoni Riera-Escamilla, Lisanna Põlluaas, Liina Nagirnaja, Olev Poolamets, Vladimir Vihljajev, Mailis Sütt, Nassim Versbraegen, Nassim Versbraegen, Sofia Papadimitriou, Sofia Papadimitriou, Sofia Papadimitriou, Robert I. McLachlan, Keith A. Jarvi, Peter N. Schlegel, Sven Tennisberg, Paul Korrovits, Katinka Vigh-Conrad, Moira K. O’Bryan, Kenneth I. Aston, Tom Lenaerts, Tom Lenaerts, Tom Lenaerts, Donald F. Conrad, Donald F. Conrad, Laura Kasak, Margus Punab, Margus Punab, Margus Punab, Maris Laan   +40 more
doaj   +5 more sources

Nevus anemicus and RASopathies [PDF]

JAAD Case Reports, 2018
Tadini and colleagues were the first to report the correlation between anemic nevi and RASopathies.1 A retrospective study in their genodermatosis center identified anemic nevi at different anatomic sites in a cohort of neurofibromatosis type 1 (NF1) (50/565).
Charlotte Bulteel, MD, Marie-Anne Morren, MD, Petra De Haes, MD, PhD, Ellen Denayer, MD, PhD, Eric Legius, MD, PhD, Hilde Brems, PhD   +5 more
doaj   +4 more sources

Defining RASopathy [PDF]

Disease Models & Mechanisms, 2022
ABSTRACT The term RASopathy was originally created to describe a phenotypically similar group of medical genetic syndromes caused by germline pathogenic variants in components of the RAS/mitogen-activated protein kinase (RAS/MAPK) pathway. In defining a RASopathy syndrome, one needs to consider the complex nature of the RAS/MAPK pathway,
openaire   +3 more sources

Pathogenetics of the RASopathies [PDF]

Human Molecular Genetics, 2016
The RASopathies are defined as a group of medical genetics syndromes that are caused by germ-line mutations in genes that encode components or regulators of the Ras/mitogen-activated protein kinase (MAPK) pathway. Taken together, the RASopathies represent one of the most prevalent groups of malformation syndromes affecting greater than 1 in 1,000 ...
William E, Tidyman, Katherine A, Rauen
openaire   +2 more sources

Expansion of the RASopathies [PDF]

Current Genetic Medicine Reports, 2016
The Ras/mitogen activated protein kinase (MAPK) pathway is essential in the regulation of cell cycle, differentiation, growth, cell senescence and apoptosis, all of which are critical to normal development. A class of neurodevelopmental disorders, RASopathies, is caused by germline mutations in genes of the Ras/MAPK pathway.
William E, Tidyman, Katherine A, Rauen
openaire   +2 more sources

Mosaic RASopathies [PDF]

Cell Cycle, 2012
"RASopathies" are a group of developmental syndromes with partly overlapping clinical symptoms that are caused by germline mutations of genes within the Ras/MAPK signaling pathway. Mutations affecting this pathway can also occur in a mosaic state, resulting in congenital syndromes often distinct from those generated by the corresponding germline ...
Christian, Hafner, Leopold, Groesser
openaire   +2 more sources

The heart in RASopathies

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 2022
AbstractThe cardiovascular phenotype associated with RASopathies has expanded far beyond the original descriptions of pulmonary valve stenosis by Dr Jaqueline Noonan in 1968 and hypertrophic cardiomyopathy by Hirsch et al. in 1975. Because of the common underlying RAS/MAPK pathway dysregulation, RASopathy syndromes usually present with a typical ...
Angelica Bibiana Delogu, Giuseppe Limongelli, Paolo Versacci, Rachele Adorisio, Juan Pablo Kaski, Rita Blandino, Stella Maiolo, Emanuele Monda, Carolina Putotto, Gabriella De Rosa, Kathryn C. Chatfield, Bruce D. Gelb, Giulio Calcagni   +12 more
openaire   +5 more sources

RASopathies: Dermatologists’ viewpoints

Indian Journal of Dermatology, Venereology and Leprology, 2021
Ras/mitogen-activated protein kinase pathway dysregulation results in a group of disorders, collectively termed as RASopathies. Neurofibromatosis type 1, Noonan syndrome, Noonan syndrome with multiple lentigines, Noonan syndrome/loose anagen hair, Legius syndrome, Costello syndrome, cardio-facio-cutaneous syndrome and capillary malformation ...
Aparna, Palit, Arun C, Inamadar
openaire   +2 more sources

Outcomes in growth hormone-treated Noonan syndrome children: impact of PTPN11 mutation status

Endocrine Connections, 2022
Introduction: Mutations in PTPN11 are associated with Noonan syndrome (NS). Although the effectiveness of growth hormone therapy (GHT) in treating sh ort stature due to NS has been previously demonstrated, the effect of PTPN11 mutation status on the long-
Alexander A L Jorge, Thomas Edouard, Mohamad Maghnie, Alberto Pietropoli, Nicky Kelepouris, Alicia Romano, Martin Zenker, Reiko Horikawa   +7 more
doaj   +1 more source