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;
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;
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
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