Results 171 to 180 of about 24,332 (187)

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
openaire   +2 more sources

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
openaire   +2 more sources

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
openaire   +2 more sources

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
openaire   +2 more sources

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
openaire   +1 more source

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

Histogenesis control genes and neurofibromatosis 1

European Journal of Pediatrics, 2000
openaire   +1 more source

Response : Type 1 Neurofibromatosis Gene: Correction

Science, 1990
Margaret R. Wallace, Douglas A. Marchuk, Lone B. Andersen, Francis S. Collins   +3 more
openaire   +1 more source

[Gene therapy strategies and prospects for neurofibromatosis type 1].

Zhongguo xiu fu chong jian wai ke za zhi = Zhongguo xiufu chongjian waike zazhi = Chinese journal of reparative and reconstructive surgery
To summarize the gene therapy strategies for neurofibromatosis type 1 (NF1) and related research progress.The recent literature on gene therapy for NF1 at home and abroad was reviewed. The structure and function of the NF1 gene and its mutations were analyzed, and the current status as well as future prospects of the transgenic therapy and gene editing
Tingting, Zheng, Beiyao, Zhu, Zhichao, Wang, Qingfeng, Li   +3 more
openaire   +1 more source