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Multi‐Omics Profiling for NF1 Target Discovery in Neurofibromin (NF1) Deficient Cells
PROTEOMICS, 2019AbstractLoss 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 +6 more
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NF1 tanısı almış hastalarda NF1 mutasyonlarının taranması
2020ÖZET 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.
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The NF1 Translocation Breakpoint Region
Annals of the New York Academy of Sciences, 1991The 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 +5 more
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Electrophysiological Changes in NF1
2000Abstract : 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 ...
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2008
The NF1 gene is a large and complex gene spread over 280 kb of genomic DNA on chromosome 17q11.2 and comprising 57 constitutive and at least 3 alternatively spliced exons.
L.M. Messiaen, K. Wimmer
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The NF1 gene is a large and complex gene spread over 280 kb of genomic DNA on chromosome 17q11.2 and comprising 57 constitutive and at least 3 alternatively spliced exons.
L.M. Messiaen, K. Wimmer
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NF1 Gene Structure and NF1 Genotype/Phenotype Correlations
2008Neurofibromatosis type 1 (NF1, MIM 162200) is a complex disorder that affects many cell types and involves multiple body systems.
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2012
Pheochromocytoma and neurofibromatosis type 1 (NF1) are rarely observed in the same patient. However, pheochromocytoma represents a substantial manifestation of NF1 and occurs in about 3 % of affected individuals. In general, pheochromocytomas occur sporadically although they are a classic feature of numerous familial cancer syndromes ...
Birke Bausch, Hartmut P. H. Neumann
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Pheochromocytoma and neurofibromatosis type 1 (NF1) are rarely observed in the same patient. However, pheochromocytoma represents a substantial manifestation of NF1 and occurs in about 3 % of affected individuals. In general, pheochromocytomas occur sporadically although they are a classic feature of numerous familial cancer syndromes ...
Birke Bausch, Hartmut P. H. Neumann
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2020
ABSTRACT Oğuzkan S, Mutation analysis on the functional domain (NF1-GRD) of the NF1 gene in neurofibromatosis type 1 (NF1) patients with tumors, Hacettepe University Institute of Health Sciences PhD Thesis in Medical Biology, Ankara, 2003. Neurofibromatosis typel (NF1) is a common autosomal dominant disorder caused by mutations of the NF1 gene.
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ABSTRACT Oğuzkan S, Mutation analysis on the functional domain (NF1-GRD) of the NF1 gene in neurofibromatosis type 1 (NF1) patients with tumors, Hacettepe University Institute of Health Sciences PhD Thesis in Medical Biology, Ankara, 2003. Neurofibromatosis typel (NF1) is a common autosomal dominant disorder caused by mutations of the NF1 gene.
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