KE Hebron, ER Hernandez… - Disease models & …, 2022 - journals.biologists.com
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 …
A Chandrasekaran, HX Avci, A Ochalek, LN Rösingh… - Stem cell …, 2017 - Elsevier
Neural progenitor cells (NPCs) from human induced pluripotent stem cells (hiPSCs) are frequently induced using 3D culture methodologies however, it is unknown whether …
A deletion or duplication in the 16p11. 2 region is associated with neurodevelopmental disorders, including autism spectrum disorder and schizophrenia. In addition to clinical …
U Hanses, M Kleinsorge, L Roos, G Yigit, Y Li… - Circulation, 2020 - Am Heart Assoc
Background: Noonan syndrome (NS) is a multisystemic developmental disorder characterized by common, clinically variable symptoms, such as typical facial …
Translational challenges associated with reductionist modeling approaches, as well as ethical concerns and economic implications of small animal testing, drive the need for …
A Packer - Neuroscience & Biobehavioral Reviews, 2016 - Elsevier
Researchers have now identified many highly penetrant genetic risk factors for autism spectrum disorder (ASD). Some of these genes encode synaptic proteins, lending support to …
YE Kim, ST Baek - Molecules and cells, 2019 - Elsevier
RAS gene mutations are frequently found in one third of human cancers. Affecting approximately 1 in 1,000 newborns, germline and somatic gain-of-function mutations in the …
CA Boecker, MA Olenick, ER Gallagher, ME Ward… - Traffic, 2020 - Wiley Online Library
Induced pluripotent stem cells (iPSCs) hold promise to revolutionize studies of intracellular transport in live human neurons and to shed new light on the role of dysfunctional transport …
AM Gross, M Frone, KW Gripp, BD Gelb… - American Journal of …, 2020 - Wiley Online Library
RASopathies caused by germline pathogenic variants in genes that encode RAS pathway proteins. These disorders include neurofibromatosis type 1 (NF1), Noonan syndrome (NS) …