Results 31 to 40 of about 35,014 (119)

Development of algorithms to identify individuals with Neurofibromatosis type 1 within administrative data and electronic medical records in Ontario, Canada

Orphanet Journal of Rare Diseases, 2022
Background There is limited population-based data on Neurofibromatosis type 1 (NF1) in North America. We aimed to develop and validate algorithms using administrative health data and electronic medical records (EMRs) to identify individuals with NF1 in ...
Carolina Barnett, Elisa Candido, Branson Chen, Priscila Pequeno, Patricia C. Parkin, Karen Tu   +5 more
doaj   +1 more source

Guanfacine treatment improves ADHD phenotypes of impulsivity and hyperactivity in a neurofibromatosis type 1 mouse model

Journal of Neurodevelopmental Disorders, 2020
Background Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder with a mutation in one copy of the neurofibromin gene (NF1 +/− ). Even though approximately 40–60% of children with NF1 meet the criteria for attention deficit hyperactivity ...
J. L. Lukkes, H. P. Drozd, S. D. Fitz, A. I. Molosh, D. W. Clapp, A. Shekhar   +5 more
doaj   +1 more source

Outlook for Neurofi bromatosis Type I Research in the Republic of Bashkortostan

Креативная хирургия и онкология, 2020
Neurofi bromatosis type I (NF1) is a common hereditary tumour syndrome with autosomal dominant type of inheritance. Average worldwide incidence rate of NF1 is 1:3000, equal in men and women.
R. N. Mustafin, E. K. Khusnutdinova
doaj   +1 more source

Enriched expression of NF1 in inhibitory neurons in both mouse and human brain

Molecular Brain, 2019
Neurofibromatosis type 1 (NF1) is an autosomal dominant disease caused by loss-of-function mutations in NF1 gene, which encodes a GTPase activating protein for RAS.
Hyun-Hee Ryu, Minkyung Kang, Jinsil Park, Sung-Hye Park, Yong-Seok Lee   +4 more
doaj   +1 more source

MEK inhibition exerts temporal and myeloid cell-specific effects in the pathogenesis of neurofibromatosis type 1 arteriopathy

Scientific Reports, 2021
Mutations in the NF1 tumor suppressor gene are linked to arteriopathy. Nf1 heterozygosity (Nf1+/–) results in robust neointima formation, similar to humans, and myeloid-restricted Nf1+/– recapitulates this phenotype via MEK-ERK activation. Here we define
Rebekah Tritz, Farlyn Z. Hudson, Valerie Harris, Pushpankur Ghoshal, Bhupesh Singla, Huiping Lin, Gabor Csanyi, Brian K. Stansfield   +7 more
doaj   +1 more source

Loss of GTPase activating protein neurofibromin stimulates paracrine cell communication via macropinocytosis

Redox Biology, 2019
Neurofibromin, the protein product of the neurofibromatosis type 1 (NF1) tumor suppressor gene, is a negative regulator of Ras signaling. Patients with mutations in NF1 have a strong predisposition for cardiovascular disease, which contributes to their ...
Pushpankur Ghoshal, Bhupesh Singla, Huiping Lin, Mary Cherian-Shaw, Rebekah Tritz, Caleb A. Padgett, Farlyn Hudson, Hanfang Zhang, Brian K. Stansfield, Gábor Csányi   +9 more
doaj   +1 more source

Advances and challenges in the treatment of neurofibromatosis type 1 related plexiform neurofibromatosis in the head and neck [PDF]

口腔疾病防治
Neurofibromatosis type 1 (NF1) is an autosomal dominant genetic disorder caused by mutations in the NF1 gene located at 17q11.2. Plexiform neurofibromas (PN) are one of the common clinical manifestations of NF1, known as NF1-related plexiform ...
CHEN Weiliang
doaj   +1 more source

Analysis of clinical manifestations of neurofibromatosis type 1 in patients with in-frame mutations in the NF1 gene from the Republic of Bashkortostan

Сибирский онкологический журнал
Background. Neurofibromatosis type 1 (NF1) is a genetic disorder that is characterized by multiple light brown patches of skin (café-au-lait spots) and neurofibromas.
R. N. Mustafin, M. A. Bermisheva, A. S. Karunas, E. K. Khusnutdinova   +3 more
doaj   +1 more source

Diagnosis and management of neurofibromatosis type 1 in Arabian Gulf Cooperation Council Region: challenges and recommendations

Frontiers in Oncology
Neurofibromatosis type 1 (NF1) is a complex multisystem genetic disorder that requires long-term, age-specific monitoring and multidisciplinary care. NF1 symptom burden can significantly affect the quality of life and impose a substantial economic burden
Fahad A. Bashiri, Khaled Hundallah, Musaad Abukhaled, Mossaed Mohammed Alyahya, Amna Al Futaisi, Daniah Alshowaeir, Asmaa Al Tawari, Shaker Abdullah, Ata Ur Rehman Maaz, Eman Taryam AlShamsi, Walaa Alshuaibi, Faisal Alotaibi, Hesham Aldhalaan   +12 more
doaj   +1 more source

Pharmacological inhibition of RAS pathway alleviates spine deformity in a mouse model of neurofibromatosis type 1

Bone Research
Neurofibromatosis type 1 (NF1) is a genetic disorder affecting 1 in 3 000 people due to heterozygous mutations in the NF1 gene. Patients with NF1 can develop multiple symptoms, such as neurofibromas, skin hyperpigmentation, and bone abnormalities ...
Franceska Kovaci, Cassandre Goachet, Simon Perrin, Lotfi Slimani, Fanny Coulpier, Françoise Tilotta, Piotr Topilko, Céline Colnot   +7 more
doaj   +1 more source