Results 201 to 210 of about 24,558 (240)

Distribution of 13 truncating mutations in the neurofibromatosis 1 gene

Human Molecular Genetics, 1995
Neurofibromatosis 1 (NF1) is a common genetic disorder characterized by abnormalities of tissues derived from the neural crest. To define germ-line mutations in the NF1 gene, we studied 20 patients with familial or sporadic cases of NF1 diagnosed clinically and one patient with only café-au-lait spots and no other diagnostic criteria.
R A, Heim, L N, Kam-Morgan, C G, Binnie, D D, Corns, M C, Cayouette, R A, Farber, A S, Aylsworth, L M, Silverman, M C, Luce   +8 more
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Somatic mutations in the neurofibromatosis 1 gene in human tumors

Cell, 1992
The neurofibromatosis 1 (NF1) gene product, neurofibromin, contains a GTPase-activating protein (GAP)-related domain, or NF1 GRD, that is able to down-regulate p21ras by stimulating its intrinsic GTPase. Since p21ras.GTP is a major regulator of growth and differentiation, mutant neurofibromins resulting from somatic mutations in the NF1 gene might ...
Ying Li, Gideon Bollag, Robin Clark, Jeff Stevens, Leah Conroy, Dan Fults, Ken Ward, Eitan Friedman, Wade Samowitz, Margaret Robertson, Paige Bradley, Frank McCormick, Ray White, Richard Cawthon   +13 more
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Studies of Neurofibromatosis-1 Modifier Genes

2004
Abstract : This project aims to collect NF1 patient DNAs required to identify neurofibroma burden modifier genes, to perform an allele association study for three classes of potential modifiers, and to evaluate more global approaches. Over four years we aim to collect 1200 DNAs from adult NF1 patients that represent the top and bottom 20% of dermal ...
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[From gene to disease; neurofibromatosis type 1].

Nederlands tijdschrift voor geneeskunde, 2001
Neurofibromatosis type 1 (NF1) is an autosomal dominant disease characterised by café-au-lait spots, freckling in the axillary or inguinal region, dermal and plexiform neurofibromas and Lisch nodules. Complications are severe in one third of patients, and the clinical variability is pronounced, even within families.
A, de Goede-Bolder, M H, Cnossen, D, Dooijes, A M, van den Ouweland, M F, Niermeijer   +4 more
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Spinal neurofibromatosis in a family with classical neurofibromatosis type 1 and a novel NF1 gene mutation

Journal of Clinical Neuroscience, 2014
Familial spinal neurofibromatosis (FSNF) is a rare form of neurofibromatosis type 1 (NF1) characterized by multiple, histologically proven neurofibromas of the spinal roots leaving no intact segments and associated neurofibromas of major peripheral nerves. It is sometimes associated with other NF1 stigmata. Most patients have NF1 gene mutations.
Nicita F, Torrente I, Spalice A, Bottillo I, Papetti L, Pinna V, Ursitti F, RUGGIERI, MARTINO   +7 more
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Transcriptional Regulation of the Neurofibromatosis Type 1 Gene

2003
Abstract : The goal of this project was to understand the transcriptional regulation of the NFl gene. Specifically to further characterize TLF-mediated regulation and identify new factors that participate in the control of NFl regulation. In addition, an attempt was made to determine signaling pathways that affect NFl levels.
Robert Roeder, J. S. Kaczmarek, Martin Teichmann, Magdalene M. Moran, Jayhong A. Chong   +4 more
openaire   +1 more source

Genomic characterization of the Neurofibromatosis Type 1 gene of Fugu rubripes

Gene, 1998
The genomic structure of the Neurofibromatosis Type1 (NF1) gene of Fugu rubripes was investigated by sequence analysis of two overlapping cosmids. The Fugu NF1 gene spans 27 kb and is 13 times smaller than the human counterpart owing primarily to reduced intron size.
H, Kehrer-Sawatzki, C, Maier, E, Moschgath, G, Elgar, W, Krone   +4 more
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Mutational and functional analysis of the neurofibromatosis type 1 ( NF1 ) gene

Human Genetics, 1996
Neurofibromatosis type 1 (NF1) is one of the most common autosomal dominant disorders. It is caused by mutations in the NF1 gene which comprises 60 exons and is located on chromosome 17q. The NF1 gene product, neurofibromin, displays partial homology to GTPase-activating protein (GAP).
M, Upadhyaya, M J, Osborn, J, Maynard, M R, Kim, F, Tamanoi, D N, Cooper   +5 more
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Diagnosis of neurofibromatosis type 1 using RFLPs tightly linked to gene

Child's Nervous System, 1993
This study reports the results of a linkage analysis in nine families with members who had neurofibromatosis type 1 (NF1), using five restriction fragment length polymorphisms (RFLPs) tightly linked to the NF1 locus. The purpose of this analysis was to determine whether the at-risk individuals were carrying the NF1 allele and whether the nine families ...
R, Vivarelli, G, Bartalani, A, Berardi, L, Calistri, P, Balestri, A, Fois   +5 more
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Debrisoquine hydroxylase gene polymorphism in neurofibromatosis type 1.

Anticancer research, 1998
Cytochrome P450 CYP2D6 polymorphism is an autosomal recessive trait leading to impaired sparteine/ debrisoquine metabolism in 5-10% of the Caucasian population. Previous studies have associated affected individuals (poor metabolizers = PM) with susceptibility to bladder cancer and various forms of leukemia.
I, Wundrack, M, Sasiadek, N, Blin
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