Results 211 to 220 of about 67,096 (237)

NF1 gene mutations in Japanese with neurofibromatosis 1 (NF1)

Biochemical and Biophysical Research Communications, 1995
Neurofibromatosis 1 (NF1) is an autosomal dominant disease characterized by abnormalities in multiple tissues derived from the neural crest. We analysed 50 unrelated Japanese patients for NF1 mutations by using polymerase chain reaction (PCR)-single strand conformation polymorphism (SSCP) analysis for exons 28 to 36.
N, Hatta, T, Horiuchi, I, Watanabe, Y, Kobayashi, Y, Shirakata, H, Ohtsuka, T, Minami, K, Ueda, T, Kokoroishi, S, Fujita   +9 more
openaire   +2 more sources

Phenotypic characterization of transgenic mice harboring Nf1^+/− or Nf1^−/− osteoclasts in otherwise Nf1^+/+ background

Journal of Cellular Biochemistry, 2012
AbstractSkeletal abnormalities in neurofibromatosis type 1 syndrome (NF1) are observed in ∼50% of patients. Here, we describe the phenotype of Nf1Ocl mouse model with Nf1‐deficient osteoclasts. Nf1Ocl mice with Nf1+/− or Nf1−/− osteoclasts in otherwise Nf1+/+ background were successfully generated by mating parental Nf1flox/flox and TRAP‐Cre mice ...
Alanne, MH, Siljamäki E, Peltonen, S, Väänänen K, Windle, JJ, Parada, LF, Määttä JA, Peltonen, J   +7 more
openaire   +3 more sources

Ras signaling and NF1

Current Opinion in Genetics & Development, 1995
The gene responsible for the hereditary disease neurofibromatosis type 1 (NF1) has been well characterized as a regulator of Ras protein activity. Many aspects of the disease seem to be caused by misregulation of Ras as a result of NF1 mutation. Other aspects, however, point at functions for the NF1 protein that have yet to be discovered.
openaire   +2 more sources

Allelic Loss of the NF1 Gene in NF1-Associated Plexiform Neurofibromas

Cancer Genetics and Cytogenetics, 1999
Neurofibromatosis 1 (NF1) is an autosomal dominant disorder with a complex variety of clinical symptoms. Genetic alteration of the NF1 gene on 17q11.2 is the disease. Neurofibromas of the peripheral nervous system are one main manifestation. A variant of neurofibroma is the plexiform neurofibroma which can be found in about 30% of NF1-patients, often ...
L, Kluwe, R E, Friedrich, V F, Mautner
openaire   +2 more sources

Clinical lumping and molecular splitting of LEOPARD and NF1/NF1‐Noonan syndromes

American Journal of Medical Genetics Part A, 2007
To the Editor:Noonan syndrome (NS) and LEOPARD syndrome(LS) are clinically recognizable developmentaldisorders with overlapping features. NS patientstypically display short stature, facial dysmorphisms,low-set and posteriorly rotated ears, short andwebbedneck,thoracicandotherskeletalanomalies,cryptorchidism, and congenital heart defects (CHD)[Allanson,
SARKOZY A, SCHIRINZI A, LEPRI F, BOTTILLO I, DE LUCA A, PIZZUTI, Antonio, TARTAGLIA M, DIGILIO MC, DALLA PICCOLA, Bruno   +8 more
openaire   +3 more sources

Multi‐Omics Profiling for NF1 Target Discovery in Neurofibromin (NF1) Deficient Cells

PROTEOMICS, 2019
AbstractLoss of NF1 is an oncogenic driver. In efforts to define pathways responsible for the development of neurofibromas and other cancers, transcriptomic and proteomic changes are evaluated in a non‐malignant NF1 null cell line. NF1 null HEK293 cells were created using CRISPR/Cas9 technology and they are compared to parental cells that express ...
Rachel M, Carnes, James A, Mobley, David K, Crossman, Hui, Liu, Bruce R, Korf, Robert A, Kesterson, Deeann, Wallis   +6 more
openaire   +2 more sources

NF1 tanısı almış hastalarda NF1 mutasyonlarının taranması

2020
ÖZET Terzi YK, NF1 tanısı almış hastalarda NF1 mutasyonlarının taranması, Hacettepe Üniversitesi Sağlık Bilimleri Enstitüsü Tıbbi Biyoloji Programı Yüksek Lisans Tezi, Ankara, 2004. Nörofîbromatozis tip 1 (NF1), veya `von Recklinghausen` hastalığı 1/3000-4000'de bir görülen, en yaygın otozomal dominant hastalıklardan biridir.
openaire   +1 more source

The NF1 Translocation Breakpoint Region

Annals of the New York Academy of Sciences, 1991
The genetic locus that harbors mutation(s) responsible for neurofibromatosis type 1 (NF1) is on chromosome 17, within band q11.2. We have mapped the human homologue of a murine gene (Evi-2) that is implicated in myeloid tumors, to a location between two NF1 translocation breakpoints on chromosome 17.
P, O'Connell, R M, Cawthon, D, Viskochil, R, White, J C, Carey, A M, Buchberg   +5 more
openaire   +2 more sources

Electrophysiological Changes in NF1

2000
Abstract : An important component of Schwann cell (SC) physiology, which has remained relatively unknown in NF1, is the electrophysiology of affected cells and the relationship of ion currents to development and maintenance of the NF1 SC phenotype. We are studying the relationship between a K channel current, functionally expressed in NF1 SC (Fieber ...
openaire   +1 more source