Results 51 to 60 of about 124,379,666 (230)

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

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

Tightly linked markers for the neurofibromatosis type 1 gene

Genomics, 1987
Relationships among genetic markers in the region of the neurofibromatosis type 1 (NF1) gene on chromosome 17 were investigated by linkage studies in a large sample set of affected families and in a panel of 58 normal families. A new marker, pHHH202 (D17S33), was included along with two markers known to be closely linked to NF.
Ray White, Yusuke Nakamura, Peter O'Connell, Mark Leppert, Jean-Marc Lalouel, David Barker, David Goldgar, Mark Skolnick, John Carey, C.E. Wallis, C.P. Slater, Chris Mathew, Bruce Ponder   +12 more
openaire   +2 more sources

A Clinical Variant of Neurofibromatosis Type 1: Familial Spinal Neurofibromatosis with a Frameshift Mutation in the NF1 Gene [PDF]

The American Journal of Human Genetics, 1998
Spinal neurofibromatosis (SNF) has been considered to be an alternative form of neurofibromatosis in which spinal cord tumors are the main clinical characteristic. Familial SNF has been reported, elsewhere, in three families-two linked to markers within the gene for neurofibromatosis type 1 (NF1) and the other not linked to NF1-but no molecular ...
Ars, Elisabet, Kruyer, Helena, Gaona, Antonia, Casquero, Pilar, Rosell, Jordi, Volpini, Víctor, Serra, Eduard, Lázaro, Conxi, Estivill, Xavier   +8 more
openaire   +2 more sources

Bone and Soft Tissue Neoplasms in Infants Versus Older Children: A Report From the Cancer in Young People in Canada Program

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background and Aims Infant bone and soft tissue neoplasms present distinct clinical challenges and lack large‐scale data to inform treatment decisions. This study aims to characterize bone and soft tissue neoplasms in infants in Canada and to compare their outcomes with those of older pediatric patients.
Samuel Sassine, Hallie Coltin, Maria Kondyli, Monia Marzouki, Nicolas Prud'homme, Nida Usmani, Rebecca J. Deyell, Lesleigh Abbott, Tony H. Truong, Sapna Oberoi, Ketan Kulkarni, Josée Brossard, Lynette Bowes, Paul Gibson, Sarah McKillop, Roona Sinha, Lillian Sung, Catherine Vezina, Laura Wheaton, Alexandra P. Zorzi, Marie‐Claude Pelland‐Marcotte, Thai Hoa Tran   +21 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

Arhgef1 Deletion Disrupts Early Cortical Neurogenesis via PAK1 Overactivation and Causes Motor Dysfunction in Adulthood

Advanced Science, EarlyView.
ARHGEF1 plays a pivotal role in both embryonic cortical neurogenesis and adult motor function. During early development, it governs genesis of deep‐layer cortical neurons by negatively regulating RAC1/CDC42‐PAK1‐Cofilin signaling. In adulthood, ARHGEF1 is important for the maintenance of neuronal morphology and activity in the motor cortex, ensuring ...
Liuren Li, Xuanyue Ma, Zhenyu Ding, Bang Sun, Linglin Liu, Hei Matthew Yip, Wei Wang, Tianying Wu, Yuan Guo, Yinghui Peng, Shiqing Zhang, Jacque Pak Kan Ip, Li Zhang, Keshen Li, Lei Shi   +14 more
wiley   +1 more source

Supplementary Figures 1-3 from Microarray-Based Identification of Tenascin C and Tenascin XB, Genes Possibly Involved in Tumorigenesis Associated with Neurofibromatosis Type 1

, 2007
Supplementary Figures 1-3 from Microarray-Based Identification of Tenascin C and Tenascin XB, Genes Possibly Involved in Tumorigenesis Associated with Neurofibromatosis Type
Janine Wechsler (14975875), Pierre Wolkenstein (582843), Béatrice Parfait (14975872), Karen Leroy (111829), Michel Vidaud (188105), Nicolas Ortonne (1386645), Philippe Dessen (17293), Pascale Lévy (14975869), Isabelle Salmon (33964), Ivan Bièche (3898000), Hugues Ripoche (60057), Vladimir Lazar (60054), Dominique Vidaud (3434459), Ingrid Laurendeau (3434453)   +13 more
core   +1 more source

Maternal Factors Modifying the Link Between Genetic Risk for Autism and Developmental Milestones

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Although common genetic liability—quantified through polygenic risk scores (PRS)—accounts for substantial variance in autism spectrum disorder (ASD) liability, how prenatal environmental exposures interact with genetic predisposition to shape developmental outcomes remains poorly understood. Using the data from Autism Genetic Resource Exchange
Liliana D'Alesio, Vishani Nimish Patel, McKenna Walsh, Erick Messias, Ping‐I Lin   +4 more
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