Results 211 to 220 of about 108,120,995 (240)

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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Expression of the neurofibromatosis 1 (NF1) gene during growth arrest

NeuroReport, 1996
The neurofibromatosis 1 (NF1) gene product, neurofibromin, is a tumor suppressor gene product capable of inhibiting the growth of cells in culture. If neurofibromin suppresses cell growth by arresting cells in G0 or G1, its expression might be regulated in a cell cycle-dependent fashion. In this study, we demonstrate that RAT-1A fibroblasts arrested in
K K, Norton, D K, Mahadeo, R T, Geist, D H, Gutmann   +3 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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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

A deletion in the 5 ′-region of the neurofibromatosis type 1 (NF1) gene

Human Genetics, 1994
A new mutation, the first one close to the 5'-end of the neurofibromatosis type 1 (NF1) gene, was found when RNA preparations from various cell types of 15 NF1 patients were analysed by reverse transcription and subsequent multiplex polymerase chain reaction. This mutation removes the 84 bp of exon 3 precisely from the cDNA.
S, Hoffmeyer, G, Assum, D, Kaufmann, K, Schwenk, 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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The achondroplasia gene is not linked to the locus for neurofibromatosis 1 on chromosome 17

Human Genetics, 1990
We have investigated genetic linkage of von Recklinghausen neurofibromatosis (NF1) and achondroplasia (ACH) using chromosome-17 markers that are known to be linked to NF1. Physical proximity of the two loci was suggested by the report of a patient with mental retardation and the de novo occurrence of both NF1 and ACH.
S M, Pulst, J M, Graham, P, Fain, D, Barker, T, Pribyl, J R, Korenberg   +5 more
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Homozygous deletion of the neurofibromatosis-1 gene in the tumor of a patient with neuroblastoma

Cancer Genetics and Cytogenetics, 1997
The neurofibromatosis type 1 (von Recklinghausen, NF1) gene has been proposed as a suppressor gene in tumors associated with neurofibromatosis. Recent publications have indicated that the NF1 gene can be rearranged in neuroblastoma cell lines. We analyzed DNA from a neuroblastoma patient with NF1 inherited as a familial trait on the paternal side ...
T, Martinsson, R M, Sjöberg, F, Hedborg, P, Kogner   +3 more
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Regulation of Ras-GAP and the Neurofibromatosis-1 Gene Product by Eicosanoids

Science, 1991
Ras-GAP (GTPase activating protein) is a regulatory protein that stimulates the intrinsic guanosine triphosphatase (GTPase) activity of the proto-oncogene product p21 ras . A domain of the neurofibromatosis gene product (NF1) that has sequence similarity to the catalytic domain of Ras-GAP
J W, Han, F, McCormick, I G, Macara
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Genetics of neurofibromatosis 1 and the NF1 gene.

Journal of child neurology, 2003
Neurofibromatosis 1 serves as a paradigm for understanding the principles of human genetics. The concepts of gene mutation, penetrance of the condition, variable clinical expressivity, mosaicism, age-dependent expression of clinical manifestations, and pleiotropy are evident in this autosomal dominant condition.
openaire   +1 more source