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 …

Molecular genetics of neurofibromatosis type 1 (NF1).

MH Shen, PS Harper, M Upadhyaya - Journal of medical genetics, 1996 - jmg.bmj.com
Neurofibromatosis type 1 (NF1), also called von Recklinghausen disease or peripheral
neurofibromatosis, is a common autosomal dominant disorder characterised by multiple …

[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 …

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 …

Somatic deletion of the neurofibromatosis type 1 gene in a neurofibrosarcoma supports a tumour suppressor gene hypothesis

E Legius, DA Marchuk, FS Collins, TW Glover - Nature genetics, 1993 - nature.com
Individuals with neurofibromatosis type 1 (NF1) have an increased risk of developing benign
and malignant tumours. The NF1 gene is thought to be a tumour suppressor gene, yet no …

Neurofibromin: a general outlook

AB Trovo‐Marqui, EH Tajara - Clinical genetics, 2006 - Wiley Online Library
Neurofibromin is a cytoplasmic protein that is predominantly expressed in neurons,
Schwann cells, oligodendrocytes, astrocytes and leukocytes. It is encoded by the gene NF1 …

Cooperative activation of Hoxa and Pbx1-related genes in murine myeloid leukaemias

T Nakamura, DA Largaespada, JD Shaughnessy Jr… - Nature …, 1996 - nature.com
Retroviruses induce myeloid leukaemia in BXH-2 mice by the insertional mutation of cellular
proto-oncogenes or tumour suppressor genes. Disease genes can thus be identified by …

Genomic organization of the neurofibromatosis 1 gene (NF1)

Y Li, P O'connell, HH Breidenbach, R Cawthon… - Genomics, 1995 - Elsevier
Neurofibromatosis 1 maps to chromosome band 17q11. 2, and the NF1 locus has been
partially characterized. Even though the full-length NF1 cDNA has been sequenced, the …

Malignant peripheral nerve sheath tumors: from epigenome to bedside

J Korfhage, DB Lombard - Molecular cancer research, 2019 - AACR
Malignant peripheral nerve sheath tumors (MPNST) are aggressive sarcomas typically
developing in the context of neurofibromatosis type 1 (NF-1). With the exception of surgical …

Deletions spanning the neurofibromatosis 1 gene: identification and phenotype of five patients.

LM Kayes, W Burke, VM Riccardi… - American journal of …, 1994 - ncbi.nlm.nih.gov
Abstract Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder characterized
by marked variation in clinical severity. To investigate the contribution to variability by genes …