Results 101 to 110 of about 26,437 (217)
FEBS Open Bio, Volume 16, Issue 2, Page 268-278, February 2026.IqgC is a RasGAP from Dictyostelium discoideum. IqgC binds RasG via its RasGAP domain and deactivates it on macroendocytic cups, thereby suppressing the uptake of fluid and particles. IqgC has a positive effect on cell‐substratum adhesion, and its RGCt domain is required for recruitment to ventral foci.
Vedrana Filić +3 more
wiley +1 more source
N-type calcium current, Cav2.2, is enhanced in small diameter sensory neurons isolated from Nf1+/− mice [PDF]
, 2014 Major aspects of neuronal function are regulated by Ca2+ including neurotransmitter release, excitability, developmental plasticity, and gene expression. We reported previously that sensory neurons isolated from a mouse model with a heterozygous mutation
Duan, J-H. +3 more
core +1 more source
Clinical exome performance for reporting secondary genetic findings. [PDF]
, 2014 BACKGROUND : Reporting clinically actionable incidental genetic findings in the course of clinical exome testing is recommended by the American College of Medical Genet- ics and Genomics (ACMG).
Clark, P +6 more
core +1 more source
Cancer, Volume 132, Issue 3, 1 February 2026.Abstract Background Malignant peripheral nerve sheath tumors (MPNSTs) are aggressive soft tissue sarcomas with a 5‐year survival rate of approximately 50%, secondary to their metastatic potential and resistance to therapy. MPNSTs can arise sporadically, as a late toxicity from therapeutic radiotherapy, or in patients with neurofibromatosis type 1 (NF1).
Rachel E. Aubrey +7 more
wiley +1 more source
Clonal lineage of high grade serous ovarian cancer in a patient with neurofibromatosis type 1
Gynecologic Oncology Reports, 2018 Neurofibromatosis type 1 (NF1) is caused by mutations in the NF1 gene encoding neurofibromin, which negatively regulates Ras signaling. NF1 patients have an increased risk of developing early onset breast cancer, however, the association between NF1 and ...
Eric J. Norris +11 more
doaj +1 more source
Characterizing the immune microenvironment of malignant peripheral nerve sheath tumor by PD-L1 expression and presence of CD8+ tumor infiltrating lymphocytes. [PDF]
, 2016 BackgroundMalignant peripheral nerve sheath tumor (MPNST) is an aggressive sarcoma with few treatment options. Tumor immune state has not been characterized in MPNST, and is important in determining response to immune checkpoint blockade.
Bernthal, Nicholas +11 more
core +2 more sources
Homozygosity at variant MLH1 can lead to secondary mutation in NF1, neurofibromatosis type I and early onset leukemia [PDF]
, 2008 Cataloged from PDF version of article.Heterozygous germ-line variants of DNA mismatch repair (MMR) genes predispose individuals to hereditary non-polyposis colorectal cancer.
Alotaibi, H. +2 more
core +2 more sources
The NF1 somatic mutational landscape in sporadic human cancers [PDF]
, 2017 Background Neurofibromatosis type 1 (NF1: Online Mendelian Inheritance in Man (OMIM) #162200) is an autosomal dominantly inherited tumour predisposition syndrome.
Cooper, David Neil +4 more
core +2 more sources
Cell Reports, 2014 Neurofibromatosis type 1 (NF1) is a common autosomal-dominant disorder associated with attention deficits and learning disabilities. The primary known function of neurofibromin, encoded by the NF1 gene, is to downregulate Ras activity.
Marc A. Wolman +5 more
doaj +1 more source
Preclinical Evidence for the Use of Sunitinib Malate in the Treatment of Plexiform Neurofibromas [PDF]
, 2015 Plexiform neurofibromas (pNF) are pathognomonic nerve and soft tissue tumors of neurofibromatosis type I (NF1), which are highly resistant to conventional chemotherapy and associated with significant morbidity/mortality.
Chen, Shi +13 more
core +1 more source