NF1 Gene and Neurofibromatosis 1

SA Rasmussen, JM Friedman - American journal of …, 2000 - academic.oup.com
Abstract Neurofibromatosis 1 (NF1), also known as von Recklinghausen disease, is an
autosomal dominant condition caused by mutations of the NF1 gene, which is located at …

[HTML][HTML] The NF1 gene revisited–from bench to bedside

YS Yap, JR McPherson, CK Ong, SG Rozen, BT Teh… - Oncotarget, 2014 - ncbi.nlm.nih.gov
Abstract Neurofibromatosis type 1 (NF1) is a relatively common tumour predisposition
syndrome related to germline aberrations of NF1, a tumour suppressor gene. The gene …

Ablation of NF1 function in neurons induces abnormal development of cerebral cortex and reactive gliosis in the brain

Y Zhu, MI Romero, P Ghosh, Z Ye… - Genes & …, 2001 - genesdev.cshlp.org
Neurofibromatosis type 1 (NF1) is a prevalent genetic disorder that affects growth properties
of neural-crest-derived cell populations. In addition, approximately one-half of NF1 patients …

Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects

LM Messiaen, T Callens, G Mortier, D Beysen… - Human …, 2000 - Wiley Online Library
Abstract Neurofibromatosis type 1 (NF1) is one of the most common autosomal dominant
disorders and is caused by mutations in the NF1 gene. Mutation detection is complex due to …

Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1

E Ars, E Serra, J García, H Kruyer… - Human molecular …, 2000 - academic.oup.com
Abstract Neurofibromatosis type 1 (NF1) is one of the most common inherited disorders in
humans and is caused by mutations in the NF1 gene. To date, the majority of the reported …

Meis1, a PBX1-Related Homeobox Gene Involved in Myeloid Leukemia in BXH-2 Mice

JJ Moskow, F Bullrich, KAY Huebner… - … and Cellular Biology, 1995 - Taylor & Francis
Leukemia results from the accumulation of multiple genetic alterations that disrupt the
control mechanisms of normal growth and differentiation. The use of inbred mouse strains …

Minor lesion mutational spectrum of the entire NF1 gene does not explain its high mutability but points to a functional domain upstream of the GAP-related domain

R Fahsold, S Hoffmeyer, C Mischung, C Gille… - The American Journal of …, 2000 - cell.com
More than 500 unrelated patients with neurofibromatosis type 1 (NF1) were screened for
mutations in the NF1 gene. For each patient, the whole coding sequence and all splice sites …

Schwann cells harbor the somatic NF1 mutation in neurofibromas: evidence of two different Schwann cell subpopulations

E Serra, T Rosenbaum, U Winner… - Human molecular …, 2000 - academic.oup.com
Neurofibromas are one of the most characteristic features of neurofibromatosis type 1 (NF1),
an inherited autosomal-dominant neurogenetic disorder affecting 1 in 3500 individuals …

Segmental neurofibromatosis is caused by somatic mutation of the neurofibromatosis type 1 (NF1) gene

S Tinschert, I Naumann, E Stegmann, A Buske… - European Journal of …, 2000 - nature.com
Segmental neurofibromatosis (NF) is generally thought to result from a postzygotic NF1
(neurofibromatosis type 1) gene mutation. However, this has not yet been demonstrated at …

Confirmation of a double-hit model for the NF1Gene in benign neurofibromas

E Serra, S Puig, D Otero, A Gaona, H Kruyer… - The American Journal of …, 1997 - cell.com
Neurofibroma is a benign tumor that arises from small or large nerves. This neoplastic lesion
is a common feature of neurofibromatosis type 1 (NF1), one of the most common autosomal …