Mutational spectrum of NF1 gene in 24 unrelated Egyptian families with neurofibromatosis type 1.
Sign Up to like & getrecommendations! Published in 2021 at "Molecular genetics & genomic medicine"
DOI: 10.1002/mgg3.1631
Abstract: BACKGROUND Neurofibromatosis 1 (NF1; OMIM# 162200) is a common autosomal dominant genetic disease [incidence: ~1:3500]. In 95% of cases, clinical diagnosis of the disease is based on the presence of at least two of the… read more here.
Keywords: nf1 gene; mutational spectrum; spectrum nf1; pathology ... See more keywords
Generation of two non-integrated induced pluripotent stem cell lines from urine-derived cells of a Chinese patient carrying NF1 gene mutation.
Sign Up to like & getrecommendations! Published in 2020 at "Stem cell research"
DOI: 10.1016/j.scr.2020.101842
Abstract: Mutations in the neurofibromin (NF1) gene cause neurofibromatosis type 1 (NF1), a complex tumour predisposition syndrome. Here, we generated two induced pluripotent stem cell (iPSC) lines using urine cells (UCs) derived from a 21-year-old female… read more here.
Keywords: stem cell; nf1 gene; induced pluripotent;
Unraveling novel variants in the NF1 gene and investigating potential therapeutic strategies
Sign Up to like & getrecommendations! Published in 2025 at "Scientific Reports"
DOI: 10.1038/s41598-025-07318-6
Abstract: Germline mutations in the NF1 gene disrupt neurofibromin function, leading to autosomal-dominant neurofibromatosis type I (NF1). As a tumor suppressor, neurofibromin negatively regulates the RAS signaling. NF1 presents notable phenotypic variability, progressive symptoms with age,… read more here.
Keywords: nf1 gene; novel variants; two novel; variants nf1 ... See more keywords
CRISPR/Cas9 editing of Nf1 gene identifies CRMP2 as a therapeutic target in neurofibromatosis type 1-related pain that is reversed by (S)-Lacosamide
Sign Up to like & getrecommendations! Published in 2017 at "PAIN"
DOI: 10.1097/j.pain.0000000000001002
Abstract: Abstract Neurofibromatosis type 1 (NF1) is a rare autosomal dominant disease linked to mutations of the Nf1 gene. Patients with NF1 commonly experience severe pain. Studies on mice with Nf1 haploinsufficiency have been instructive in… read more here.
Keywords: crispr cas9; nf1 gene; pain;
A novel multion in a Chinese family with neurofibromatosis type 1: A case report
Sign Up to like & getrecommendations! Published in 2025 at "Medicine"
DOI: 10.1097/md.0000000000045455
Abstract: Rationale: Neurofibromatosis type 1 (NF1), an autosomal dominant genetic disorder, exhibits a high prevalence across populations. The quintessential clinical manifestations of NF1 encompass a spectrum of features, including neurofibromas, café-au-lait macules (CALMs), skinfold freckling, Lisch… read more here.
Keywords: nf1 gene; neurofibromatosis; family; neurofibromatosis type ... See more keywords
Neurofibromatosis type 1 (NF1) gene: Beyond café au lait spots and dermal neurofibromas
Sign Up to like & getrecommendations! Published in 2017 at "Experimental Dermatology"
DOI: 10.1111/exd.13212
Abstract: Neurofibromatosis 1 (NF1) occurs in 1:2000 births. The main diagnostic signs are visible on the skin, and this opens several interesting aspects for dermatological point of view. The NF1 syndrome is caused by mutations in… read more here.
Keywords: nf1 gene; type nf1; neurofibromatosis type; gene beyond ... See more keywords
Different de novo mutations in the NF1 gene in a family with neurofibromatosis type 1
Sign Up to like & getrecommendations! Published in 2024 at "Pediatric Dermatology"
DOI: 10.1111/pde.15734
Abstract: The criteria for clinical diagnosis of neurofibromatosis type 1 (NF1) are not sensitive in young children. Recognition is easier when one of their parents has been diagnosed with this condition, and the causal mutation is… read more here.
Keywords: novo mutations; nf1 gene; different novo; mutations nf1 ... See more keywords
Jaffe-Campanacci syndrome or neurofibromatosis type 1: a case report of phenotypic overlap with detection of NF1 gene mutation in non-ossifying fibroma
Sign Up to like & getrecommendations! Published in 2020 at "Italian Journal of Pediatrics"
DOI: 10.1186/s13052-020-0813-9
Abstract: Background Jaffe-Campanacci syndrome is characterized by multiple non-ossifying fibromas, café-au-lait macules and giant cell granulomas of the jaw. Even if the association between all these peculiar features and neurofibromatosis type 1 have been described, it… read more here.
Keywords: jaffe campanacci; nf1 gene; neurofibromatosis type; non ossifying ... See more keywords
Novel phenotypes of NF1 patients from unrelated Chinese families with tibial pseudarthrosis and anemia
Sign Up to like & getrecommendations! Published in 2017 at "Oncotarget"
DOI: 10.18632/oncotarget.13932
Abstract: Neurofibromatosis type 1 (NF1) is an autosomal dominant, multi-system, neurocutaneous disorder, manifested with neurofibromas and Cafe´-au-lait spots. Germline mutations in NF1 gene are associated with Neurofibromatosis type 1. NF1 gene encodes neurofibromin, a RAS-specific GTPase… read more here.
Keywords: nf1 gene; family; tibial pseudarthrosis; lait spots ... See more keywords