Results 31 to 40 of about 30,899,307 (191)

The RASopathies: from pathogenetics to therapeutics

Disease Models & Mechanisms, 2022
The RASopathies are a group of disorders caused by a germline mutation in one of the genes encoding a component of the RAS/MAPK pathway. These disorders, including neurofibromatosis type 1, Noonan syndrome, cardiofaciocutaneous syndrome, Costello ...
Katie E. Hebron, Edjay Ralph Hernandez, Marielle E. Yohe   +2 more
doaj   +1 more source

Central Nervous System Tumors Among Infants in Canada: A Report From CYP‐C

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Central nervous system (CNS) tumors in infants are rare, pose unique clinical challenges, and lack large‐scale evidence‐based data to guide management. This study seeks to describe CNS tumors in Canadian infants and to compare their outcomes with those of older children.
Samuel Sassine, Hallie Coltin, Sylvia Cheng, Lucie Lafay‐Cousin, Vanan Issai Magimairajan, Craig Erker, Stéphanie Vairy, Lynette Bowes, Adam Fleming, Donna Johnston, Sarah McKillop, Roona Sinha, Julie Bennett, Christina Coleman, Laura Wheaton, Shayna Zelcer, Samuele Renzi, Thai Hoa Tran   +17 more
wiley   +1 more source

Malignant peripheral nerve sheath tumor of the cervical vagus nerve in a neurofibromatosis type 1 patient - An unusual presentation [PDF]

, 2010
Malignant peripheral nerve sheath tumors (MPNST’S) of the head and neck comprise 2% to 6% of head and neck sarcomas. These tumors may arise as sporadic variants or in patients with neurofibromatosis (NF).
Amanjit Bahl, Gupta, A, Sandeep Bansal, Sanjeev Bhagat, Ashok Gupta, Bahl, A, Bansal, S, Bhagat, S   +7 more
core  

Cardiac imaging in RASopathies/mitogen activated protein kinase syndromes

Cardiogenetics, 2014
RASopathies include a spectrum of disorders due to dysregulation of RAS/mitogen activated protein kinase pathway that plays an essential role in the control of the cell cycle and differentiation.
Rita Gravino, Giuseppe Pacileo
doaj   +1 more source

Impact of Radiation Therapy on Physical and Psychosocial Health of Adolescents and Young Adults: A Joint Report From the Children's Oncology Group AYA and Radiation Oncology Committees

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Rates of cancer among adolescents and young adults (AYA), age 15–39 years, are increasing. Consequently, radiation oncologists are treating more AYAs who have diagnoses spanning both pediatric and adult practices. Compared to pediatric and older adult patients, AYAs face a unique set of challenges.
Hesham Elhalawani, Rachel K. Peterson, Avani D. Rao, Laurie J. McKenzie, Ahmed Magdy Elmotayam, Leslie Chang, Michael Roth, Susan L. McGovern   +7 more
wiley   +1 more source

Genetic interactions between neurofibromin and endothelin receptor B in mice. [PDF]

PLoS ONE, 2013
When mutations in two different genes produce the same mutant phenotype, it suggests that the encoded proteins either interact with each other, or act in parallel to fulfill a similar purpose.
Mugdha Deo, Jenny Li-Ying Huang, Catherine D Van Raamsdonk   +2 more
doaj   +1 more source

Organoids in pediatric cancer research

FEBS Letters, EarlyView.
Organoid technology has revolutionized cancer research, yet its application in pediatric oncology remains limited. Recent advances have enabled the development of pediatric tumor organoids, offering new insights into disease biology, treatment response, and interactions with the tumor microenvironment.
Carla Ríos Arceo, Jarno Drost
wiley   +1 more source

Detection of malignant peripheral nerve sheath tumors in patients with neurofibromatosis using aneuploidy and mutation identification in plasma

eLife, 2022
Malignant peripheral nerve sheath tumors (MPNST) are the deadliest cancer that arises in individuals diagnosed with neurofibromatosis and account for nearly 5% of the 15,000 soft tissue sarcomas diagnosed in the United States each year.
Austin K Mattox, Christopher Douville, Natalie Silliman, Janine Ptak, Lisa Dobbyn, Joy Schaefer, Maria Popoli, Cherie Blair, Kathy Judge, Kai Pollard, Christine Pratilas, Jaishri Blakeley, Fausto Rodriguez, Nickolas Papadopoulos, Allan Belzberg, Chetan Bettegowda   +15 more
doaj   +1 more source

Sleep Disturbances in Adults With Tuberous Sclerosis Complex: Influences of Treatment and Clinical Features

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Tuberous sclerosis complex (TSC) is a genetic condition with multisystem neurocutaneous signs, including hamartomas, epilepsy, and neuropsychological difficulties. Although sleep disorders are increasingly recognized in TSC, they remain poorly described in adults.
Kirstin A. Risgaard, Laura Farach, Hope Northrup, Sarah L. Wilson, Deborah Pearson, Syed Hashmi, Kate Richardson   +6 more
wiley   +1 more source

Coexistence of neurofibromatosis type-1 and primary pulmonary sarcoma: a case report and review of the literature [PDF]

, 2014
Neurofibromatosis type-1 (NF1) is a genetic disorder characterized by café-au-lait spots, neurofibroma and other associated features. The risk of malignancy is approximately 2.5 to 4-fold higher as compared to general population.
Lim, Suat Yee, Chin, Pek Woon, Md Tarekh, Noor Aliza, Hoo, Fan Kee, Boo, Yang Liang   +4 more
core   +1 more source