Results 61 to 70 of about 7,783 (160)

Optimizing Diagnostic Accuracy of Clinical Red Flags in RASopathies

American Journal of Medical Genetics Part A, Volume 200, Issue 7, Page 1608-1618, July 2026.
ABSTRACT RASopathies are a group of genetic disorders caused by pathogenic variants in the RAS‐mitogen‐activated protein kinase (RAS–MAPK) signaling pathway, often presenting with congenital heart defects, craniofacial dysmorphisms, and developmental delays. To assess the diagnostic yield of genetic testing in patients with suspected RASopathies and to
Emanuele Bobbio, Martina Caiazza, Emanuele Monda, Giustina Aruta, Alberto Budillon, Augusto Esposito, Adelaide Fusco, Annapaola Cirillo, Marta Rubino, Immacolata Viscovo, Gioacchino Scarano, Matteo Della Monica, Vincenzo Nigro, Giulio Piluso, Leandro Pecchia, Maria Giovanna Russo, Giuseppe Limongelli   +16 more
wiley   +1 more source

Neuropathic Pain and Enlarged Nerves in Adult Noonan Syndrome and Noonan Syndrome With Multiple Lentigines: Health‐Related Quality of Life and Neurologic Symptoms

American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1442-1451, June 2026.
ABSTRACT Noonan syndrome (NS) and the clinically related Noonan syndrome with multiple lentigines (NSML) belong to the group of RASopathies. Although pain is not mentioned as a characteristic feature, it has recently been reported as a clinically significant problem.
Jos M. T. Draaisma, Wesley Reintjes, Erika Leenders, Fieke Draaisma, Melanie Burgers, Lotte Kleimeier, Marco Tartaglia, Merel Klaassens, Ruud Becks, Steven Renes, Ellen Wingbermühle, Nicol C. Voermans, Nens van Alfen   +12 more
wiley   +1 more source

The spread of non‐native species

Biological Reviews, Volume 101, Issue 3, Page 1197-1234, June 2026.
ABSTRACT The global redistribution of species through human agency is one of the defining ecological signatures of the Anthropocene, with biological invasions reshaping biodiversity patterns, ecosystem processes and services, and species interactions globally.
Phillip J. Haubrock, Ali Serhan Tarkan, Irene Martín‐Forés, Stelios Katsanevakis, Ronaldo Sousa, Ismael Soto, Andy J. Green, Antonín Kouba, Teun Everts, Victoria Dominguez Almela, Nadège Belouard, Cang Hui, Jamie Bojko, Victor Deklerck, Margaux Boeraeve, Franz Essl, J. Robert Britton   +16 more
wiley   +1 more source

[Two cases of Costello syndrome].

No to hattatsu = Brain and development, 2003
We report two unrelated cases of Costello syndrome, presenting with poor postnatal growth, mild mental retardation, poor feeding, curly hair, coarse characteristic face, loose skin, hypotonia, and cardiac involvement. Nasal papilloma and acanthosis nigricans were the most characteristic features of this syndrome.
Masuyama, Tatsuo, Matsuo, Muneaki, Kuno, Tateo, Kitsuki, Kyoko, Kan, Yuka, Ishii, Kiyohisa, Ohtani, Yoshinobu   +6 more
openaire   +2 more sources

RASopathy in Patients With Isolated Sagittal Synostosis

Global Pediatric Health, 2019
RASopathy is caused by dysfunction in the MAPK pathway, and include syndromes like Noonan syndrome (NS), NS with multiple lentigines (formerly known as Leopard syndrome), cardiofaciocutaneous (CFC), Legius syndrome, capillary malformation–arteriovenous ...
Amani Ali Davis BA, Giulio Zuccoli MD, Mostafa M. Haredy MD, Joseph Losee MD, Ian F. Pollack MD, Suneeta Madan-Khetarpal MD, Jesse A. Goldstein MD, Ken K. Nischal MD   +7 more
doaj   +1 more source

Concurrent somatic KRAS mutation and germline 10q22.3-q23.2 deletion in a patient with juvenile myelomonocytic leukemia, developmental delay, and multiple malformations: a case report

BMC Medical Genomics, 2018
Background The proto-oncogene KRAS performs an essential function in normal tissue signaling, and the mutation of KRAS gene is a key step in the development of many cancers.
Ruen Yao, Tingting Yu, Yufei Xu, Guoqiang Li, Lei Yin, Yunfang Zhou, Jian Wang, Zhilong Yan   +7 more
doaj   +1 more source

Costello syndrome [PDF]

, 2020
  +5 more sources

Functional robustness of adult spermatogonial stem cells after induction of hyperactive Hras.

PLoS Genetics, 2019
Accumulating evidence indicates that paternal age correlates with disease risk in children. De novo gain-of-function mutations in the FGF-RAS-MAPK signaling pathway are known to cause a subset of genetic diseases associated with advanced paternal age ...
Makiko Yamada, Winson Cai, Laura A Martin, Thierry N'Tumba-Byn, Marco Seandel   +4 more
doaj   +1 more source

Cancer in Costello syndrome: a systematic review and meta-analysis. [PDF]

Br J Cancer, 2023
Astiazaran-Symonds E, Ney GM, Higgs C, Oba L, Srivastava R, Livinski AA, Rosenberg PS, Stewart DR.   +7 more
europepmc   +1 more source

Impaired MC3T3-E1 osteoblast differentiation triggered by oncogenic HRAS is rescued by the farnesyltransferase inhibitor Tipifarnib

Scientific Reports
HRAS is a ubiquitously expressed protein and functions as a central regulator of cellular homeostasis. In somatic cells, mutations in this gene cause cancer, while germline mutations trigger a developmental disorder known as Costello syndrome (CS). Among
Yannik Andrasch, Moses Munene Ireri, Jonas Gander, Ann-Engelke Sabrina Timm, Saravanakkumar Chennappan, Miray Fidan, Melanie Engler, Ion Cristian Cirstea   +7 more
doaj   +1 more source