Results 81 to 90 of about 21,253 (159)

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

Genetic Pigmentary Disorders: From Molecular Mechanisms to Clinical Manifestations

The Journal of Dermatology, Volume 53, Issue 2, Page 169-179, February 2026.
ABSTRACT Genetic pigmentary disorders represent a diverse group of genetic conditions characterized by alterations in melanin production and transport and melanocyte development, resulting from single‐gene pathological variants. These disorders encompass both hypopigmentary and hyperpigmentary phenotypes, affecting not only skin pigmentation but also ...
Ken Okamura, Tamio Suzuki
wiley   +1 more source

Recent Advancement of Neurofibromatosis Type 1: A Narrative Review

Acta Neurologica Taiwanica
Neurofibromatosis type 1 (NF1) is a complex autosomal dominant genetic disorder caused by mutations in the NF1 gene on chromosome 17, which encodes the tumor-suppressor protein, neurofibromin.
Po-Yuan Huang, Society for Neurological Rare Disorders-Taiwan, Ming-Jen Lee   +2 more
doaj   +1 more source

Tranilast inhibits the expression of genes related to epithelial-mesenchymal transition and angiogenesis in neurofibromin-deficient cells

Scientific Reports, 2018
Neurofibromatosis type 1 (NF1) is caused by germline mutations in the NF1 gene and is characterized by café au lait spots and benign tumours known as neurofibromas.
Ritsuko Harigai, Shigeki Sakai, Hiroyuki Nobusue, Chikako Hirose, Oltea Sampetrean, Noriaki Minami, Yukie Hata, Takashi Kasama, Takanori Hirose, Toshiki Takenouchi, Kenjiro Kosaki, Kazuo Kishi, Hideyuki Saya, Yoshimi Arima   +13 more
doaj   +1 more source

A neurofibromatosis type 1 family report with multiple cases in 3 consecutive Generations

مجله دانشگاه علوم پزشکی گرگان, 2017
Neurofibromatosis type1 (NF1) with the incidence of 1 in 3500 births, is the most common disorder which affects skin and peripheral nervous system. NF1 results from mutations in NF1 gene. The NF1 gene spans 350kbp and to date, nearly 2434 mutations in it
M Oladnabi, T Haddadi, K Kianmehr, N Mansour Samaei, M Mehri   +4 more
doaj  

Diagnostic and therapeutic process of neurofibromatosis type 1 and type 2

Journal of Education, Health and Sport
Neurofibromatosis is one of the most common genetic diseases. It is inherited in an autosomal dominant manner. It is divided into two genetically distinct subtypes, characterised by multiple skin lesions and tumours of the peripheral and central nervous 
Michał Leśniewski, Iwona Welian-Polus, Izabela Oleksak, Karolina Maliszewska   +3 more
doaj   +1 more source

Familial Lymphoproliferative Malignancies and Tandem Duplication of NF1 Gene

Case Reports in Oncological Medicine, 2014
Background. Neurofibromatosis type 1 is a genetic disorder caused by loss-of-function mutations in a tumor suppressor gene (NF1) which codifies the protein neurofibromin.
Gustavo Fernandes, Mirela Souto, Frederico Costa, Edite Oliveira, Bernardo Garicochea   +4 more
doaj   +1 more source

The NF1 somatic mutational landscape in sporadic human cancers

Human Genomics, 2017
Background Neurofibromatosis type 1 (NF1: Online Mendelian Inheritance in Man (OMIM) #162200) is an autosomal dominantly inherited tumour predisposition syndrome.
Charlotte Philpott, Hannah Tovell, Ian M. Frayling, David N. Cooper, Meena Upadhyaya   +4 more
doaj   +1 more source

Novel Variants and Clinical Characteristics of 16 Patients from Southeast Asia with Genetic Variants in Neurofibromin-1. [PDF]

J Pediatr Genet, 2023
Lin G, Wei H, Lai AHM, Tan ES, Lim JY, Cham B, Ling S, Jamuar SS, Tan EC.   +8 more
europepmc   +1 more source

Neurofibromin 1 (NF1); MEK [PDF]

Science-Business eXchange, 2013
openaire   +1 more source