Results 1 to 10 of about 34,111 (166)
Exploring the somatic NF1 mutational spectrum associated with NF1 cutaneous neurofibromas [PDF]
European Journal of Human Genetics, 2011 Neurofibromatosis type-1 (NF1), caused by heterozygous inactivation of the NF1 tumour suppressor gene, is associated with the development of benign and malignant peripheral nerve sheath tumours (MPNSTs). Although numerous germline NF1 mutations have been identified, relatively few somatic NF1 mutations have been described in neurofibromas. Here we have
Nadia Chuzhanova +2 more
exaly +5 more sources
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
Pierre Laurent-Puig +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