Results 31 to 40 of about 33,733 (216)
Türk Oftalmoloji Dergisi, 2023 Systemic vascular occlusive disease associated with neurofibromatosis type 1 (NF1) has been reported in the aortic, cerebral, renal, celiac, and mesenteric vessels and is referred to as NF1 vasculopathy.
Ece Özdemir Zeydanlı, Şengül Özdek
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Telomere erosion in NF1 tumorigenesis [PDF]
Oncotarget, 2017 Neurofibromatosis type 1 (NF1; MIM# 162200) is a familial cancer syndrome that affects 1 in 3,500 individuals worldwide and is inherited in an autosomal dominant fashion. Malignant Peripheral Nerve Sheath Tumors (MPNSTs) represent a significant cause of morbidity and mortality in NF1 and currently there is no treatment or definite prognostic biomarkers
Robinson, Rhiannon +4 more
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A novel NF1 frame-shift mutation c.703_704delTA in a Chinese pedigree with neurofibromatosis type 1 [PDF]
International Journal of Ophthalmology, 2018 We analyzed the clinical features and NF1 gene mutation in a Chinese pedigree of neurofibromatosis type 1 (NF1). Three members of this family were NF1 patients presenting with different clinical phenotypes and the others were asymptomatic.
Jun Chen +7 more
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Historical Development of Diagnostic Criteria for NF2-related Schwannomatosis
Neurologia Medico-ChirurgicaNF2-related schwannomatosis (NF2; previously termed neurofibromatosis type 2) is a tumor-prone disorder characterized by development of multiple schwannomas and meningiomas. The diagnostic criteria of NF2 have been regularly revised.
Ryota TAMURA, Masahiro YO, Masahiro TODA
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Scientific Reports, 2022 Individuals with Neurofibromatosis type 1 (NF1) experience a high degree of motor problems. The cerebellum plays a pivotal role in motor functioning and the NF1 gene is highly expressed in cerebellar Purkinje cells.
M. J. Ottenhoff +8 more
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Orphanet Journal of Rare Diseases, 2019 Background Congenital pseudarthrosis of the tibia (CPT) is a rare disease. Some patients present neurofibromatosis type 1 (NF1), while some others do not manifest NF1 (non-NF1). The etiology of CPT, particularly non-NF1 CPT, is not well understood.
Guanghui Zhu +11 more
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NF1 mutations in conjunctival melanoma [PDF]
British Journal of Cancer, 2018 Conjunctival melanoma is a potentially deadly eye tumour. Despite effective local therapies, tumour recurrence and metastasis remain frequent. The genetics of conjunctival melanomas remain incompletely understood.A large cohort of 63 conjunctival melanomas was screened for gene mutations known to be important in other melanoma subtypes by targeted next-
Scholz, S.L. +16 more
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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
Neurofibromatosis Type 1 in Ecuador: genotype-phenotype correlations from a case series
MedwaveIntroduction Neurofibromatosis type 1 (NF1) is a multisystemic genetic disorder caused by pathogenic variants in the gene, characterized by variable clinical manifestations such as pigmentary abnormalities, neurofibromas, skeletal dysplasia, and tumor ...
Elius Paz-Cruz +9 more
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Targeting Supramolecular Active Complexes of Nav1.7/Nav1.8 to Relieve Chronic Neuropathic Pain
Advanced Science, EarlyView.In mice and patients with severe chronic neuropathic pain (NP), Nav1.7, Nav1.8, TrkB, and five cytoskeletal proteins form supramolecular active complexes (SMACs) with polygonal lattice structures as noxious signal amplifiers in dorsal root ganglion (DRG) neurons.
Liting Sun +27 more
wiley +1 more source