Neurofibromatosis type 1

DH Gutmann, RE Ferner, RH Listernick… - Nature Reviews …, 2017 - nature.com
Neurofibromatosis type 1 is a complex autosomal dominant disorder caused by germline
mutations in the NF1 tumour suppressor gene. Nearly all individuals with neurofibromatosis …

Neurofibromin structure, functions and regulation

M Bergoug, M Doudeau, F Godin, C Mosrin, B Vallée… - Cells, 2020 - mdpi.com
Neurofibromin is a large and multifunctional protein encoded by the tumor suppressor gene
NF1, mutations of which cause the tumor predisposition syndrome neurofibromatosis type 1 …

Guidelines for the diagnosis and management of individuals with neurofibromatosis 1

RE Ferner, SM Huson, N Thomas, C Moss… - Journal of medical …, 2007 - jmg.bmj.com
Neurofibromatosis 1 (NF1) is a common neurocutaneous condition with an autosomal
dominant pattern of inheritance. The complications are diverse and disease expression …

Hereditary breast cancer: syndromes, tumour pathology and molecular testing

A Sokolova, KJ Johnstone, AE McCart Reed… - …, 2023 - Wiley Online Library
Hereditary factors account for a significant proportion of breast cancer risk. Approximately
20% of hereditary breast cancers are attributable to pathogenic variants in the highly …

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 …

Aberrant regulation of ras proteins in malignant tumour cells from type 1 neurofibromatosis patients

TN Basu, DH Gutmann, JA Fletcher, TW Glover… - Nature, 1992 - nature.com
DEFECTS in the NF1 gene have been implicated in the inherited disorder neurofibromatosis
type 1, which is characterized by several developmental abnormalities including an …

Neurofibromatosis type 1

PJ Cimino, DH Gutmann - Handbook of clinical neurology, 2018 - Elsevier
The neurofibromatoses are a group of three heterogeneous disorders that include
neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2), and schwannomatosis. NF1 …

cDNA cloning of the type 1 neurofibromatosis gene: complete sequence of the NF1 gene product

DA Marchuk, AM Saulino, R Tavakkol, M Swaroop… - Genomics, 1991 - Elsevier
Von Recklinghausen neurofibromatosis, or type 1 neurofibromatosis (NF1), is a common
autosomal dominant disorder characterized by abnormalities in multiple tissues derived from …

Astrocyte-Specific Inactivation of the Neurofibromatosis 1 Gene (NF1) Is Insufficient for Astrocytoma Formation

ML Bajenaru, Y Zhu, NM Hedrick… - … and cellular biology, 2002 - Taylor & Francis
Individuals with the neurofibromatosis 1 (NF1) inherited tumor syndrome develop low-grade
gliomas (astrocytomas) at an increased frequency, suggesting that the NF1 gene is a critical …

An update on neurofibromatosis type 1-associated gliomas

M Lobbous, JD Bernstock, E Coffee, GK Friedman… - Cancers, 2020 - mdpi.com
Neurofibromatosis type 1 (NF1) is an autosomal dominant tumor predisposition syndrome
that affects children and adults. Individuals with NF1 are at high risk for central nervous …