Results 161 to 170 of about 15,366 (199)

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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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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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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Expression of the neurofibromatosis 1 (NF1) gene in reactive astrocytes in vitro

NeuroReport, 1995
Neurofibromin, the product of the neurofibromatosis 1 (NF1) gene, is an important tumor suppressor protein expressed most abundantly in the nervous system. Within the central nervous system, neurofibromin has been localized to neurons and oligodendrocytes but not astrocytes. As individuals with NF1 are at an increased risk for optic pathway gliomas and
S J, Hewett, D W, Choi, D H, Gutmann
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On unequal allelic expression of the neurofibromin gene in neurofibromatosis type 1

Human Molecular Genetics, 1995
The autosomal dominantly inherited disease neurofibromatosis type 1 (NF1) is caused by mutations of a large gene comprising 59 exons, which code for a protein with 2818 amino acids called neurofibromin. Employing an expressed polymorphic site in exon 5 of the neurofibromin gene, the expression of its alleles was analysed quantitatively by scanning ...
S, Hoffmeyer, G, Assum, J, Griesser, D, Kaufmann, P, Nürnberg, W, Krone   +5 more
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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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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
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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.
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