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 …
neurofibromatosis, is a common autosomal dominant disorder characterised by multiple …
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 …
Schwann cells, oligodendrocytes, astrocytes and leukocytes. It is encoded by the gene NF1 …
Tumour predisposition in mice heterozygous for a targeted mutation in Nf1
T Jacks, TS Shih, EM Schmitt, RT Bronson… - Nature …, 1994 - nature.com
Human neurofibromatosis type 1 is a dominant disease caused by the inheritance of a
mutant allele of the NF1 gene. In order to study NF1 function, we have constructed a mouse …
mutant allele of the NF1 gene. In order to study NF1 function, we have constructed a mouse …
Targeted disruption of the neurofibromatosis type-1 gene leads to developmental abnormalities in heart and various neural crest-derived tissues.
CI Brannan, AS Perkins, KS Vogel… - Genes & …, 1994 - genesdev.cshlp.org
The neurofibromatosis (NF1) gene shows significant homology to mammalian GAP and is
an important regulator of the ras signal transduction pathway. To study the function of NF1 in …
an important regulator of the ras signal transduction pathway. To study the function of NF1 in …
Neurofibromin and suppression of tumorigenesis: beyond the GAP
Abstract Neurofibromatosis type 1 (NF1) is an autosomal dominant genetic disease and one
of the most common inherited tumor predisposition syndromes, affecting 1 in 3000 …
of the most common inherited tumor predisposition syndromes, affecting 1 in 3000 …
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 …
partially characterized. Even though the full-length NF1 cDNA has been sequenced, the …
Rescue of a Drosophila NF1 Mutant Phenotype by Protein Kinase A
I The, GE Hannigan, GS Cowley, S Reginald, Y Zhong… - Science, 1997 - science.org
The neurofibromatosis type 1 (NF1) tumor suppressor protein is thought to restrict cell
proliferation by functioning as a Ras-specific guanosine triphosphatase–activating protein …
proliferation by functioning as a Ras-specific guanosine triphosphatase–activating protein …
Germline and somatic NF1 mutations in sporadic and NF1‐associated malignant peripheral nerve sheath tumours
I Bottillo, T Ahlquist, H Brekke… - The Journal of …, 2009 - Wiley Online Library
Malignant peripheral nerve sheath tumours (MPNSTs) are a malignancy occurring with
increased frequency in patients with neurofibromatosis type 1 (NF1). In contrast to the well …
increased frequency in patients with neurofibromatosis type 1 (NF1). In contrast to the well …
Optimizing biologically targeted clinical trials for neurofibromatosis
Introduction: The neurofibromatoses (neurofibromatosis type 1, NF1 and neurofibromatosis
type 2, NF2) comprise the most common inherited conditions in which affected children and …
type 2, NF2) comprise the most common inherited conditions in which affected children and …
Expression of the neurofibromatosis 1 (NF1) isoforms in developing and adult rat tissues
DH Gutmann, RT Geist, DE Wright, WD Snider - Cell Growth and …, 1995 - AACR
Abstract The neurofibromatosis 1 (NF1) gene encodes a large M (r) approximately 250,000
phosphoprotein, the expression of which in adult tissues is limited to neurons, Schwann …
phosphoprotein, the expression of which in adult tissues is limited to neurons, Schwann …