Results 11 to 20 of about 44,580 (273)
NF1 mutations identify molecular and clinical subtypes of lung adenocarcinomas
Cancer Medicine, 2019 The tumor suppressor gene neurofibromin 1 (NF1) is a major regulator of the RAS‐MAPK pathway. NF1 mutations occur in lung cancer but were not extensively explored. We hypothesized that NF1‐mutated tumors could define a specific population with a distinct
Diane Damotte +2 more
exaly +2 more sources
Neurofibromatosis type I: points to be considered by general pediatricians [PDF]
Clinical and Experimental Pediatrics, 2021 Neurofibromatosis type 1 (NF1), a prevalent genetic disease that is transmitted in an autosomal dominant manner, is characterized by multiple cutaneous café-au-lait spots and neurofibromas as well as various degrees of neurological, skeletal, and ...
Eungu Kang, Hee Mang Yoon, Beom Hee Lee
doaj +1 more source
Endocrine Connections, 2021 Risk of metastatic disease in the cluster 2-related pheochromocytoma/paraganglioma (PPGL) is low. In MEN2 patients, identification of origin of met astases from pheochromocytoma (PCC) or medullary thyroid carcinoma (MTC) is challenging as both are of ...
Sandeep Kumar +10 more
doaj +1 more source
Ocular gamut of neurofibromatosis type 1
Kerala Journal of Ophthalmology, 2023 Background: Neurofibromatosis type 1 (NF1) is a multi-system autosomal dominant disorder affecting 1 in 3000 individuals. The diagnostic criteria of NF1 includes ocular manifestations.
Prathibha Shanthaveerappa +3 more
doaj +1 more source
Case Reports in Oncology, 2023 Sporadically occurring malignant peripheral nerve sheath tumours (MPNSTs) can have a variety of genomic alterations including altered NF1, leading to activation of the RAS-RAF-MEK-ERK signalling pathway. Trametinib is an inhibitor of MEK1 and MEK2.
Nadia Hitchen +4 more
doaj +1 more source
Kidney & Blood Pressure Research, 2023 Introduction: Neurofibromatosis type 1 (NF-1) is caused by mutations in the NF1 gene that encodes neurofibromin, a negative regulator of RAS proto-oncogene.
Yi-Ting Lu +7 more
doaj +1 more source
Disease Models & Mechanisms, 2020 Polycomb repressive complex 2 (PRC2) is an epigenetic regulator of gene expression that possesses histone methyltransferase activity. PRC2 trimethylates lysine 27 of histone H3 proteins (H3K27me3) as a chromatin modification associated with repressed ...
Felix Oppel +8 more
doaj +1 more source
The Spectrum of NF1 Gene Variations in Southeastern Turkey
Journal of Pediatric Research, 2021 Aim:We aimed to expand the variant spectrum of the NF1 gene in Southeastern Turkey. Neurofibromatosis type 1 (NF1) disease is an inherited skin disorder with variable severity and heterogeneous systemic involvement.
Emre Kırat, Hatice Mutlu Albayrak
doaj +1 more source
Extensive Plexiform Neurofibroma Presenting as Clitoromegaly in Neurofibromatosis Type 1
Journal of Behçet Uz Children's Hospital, 2021 Neurofibromatosis type 1 (NF1) is an autosomal-dominant disorder with multisystem involvement. Genitourinary involvement of neurofibromatosis type 1 is rare condition and involvement of plexiform neurofibroma can cause painful clitoromegaly. A 9-year-old
Özlem Nalbantoğlu +4 more
doaj +1 more source
Proteogenomic characterization of cholangiocarcinoma
Hepatology, EarlyView., 2022 Proteogenomic characterization of cholangiocarcinoma with therapeutic strategies Abstract Background and Aims Cholangiocarcinoma (CCA) is a highly heterogeneous cancer with limited understanding and few effective therapeutic approaches. We aimed at providing a proteogenomic CCA characterization to inform biological processes and treatment ...
Mengjie Deng +18 more
wiley +1 more source