A highly informative CA/GT repeat polymorphism in intron 38 of the human neurofibromatosis type 1 (NF1) gene

1993 ◽  
Vol 92 (4) ◽  
pp. 429-430 ◽  
Author(s):  
Conxi L�zaro ◽  
Antonia Gaona ◽  
Ganfeng Xu ◽  
Robert Weiss ◽  
Xavier Estivill
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Repeat Polymorphism ◽  
Nf1 Gene

A large deletion (1.5 Mb) encompassing the neurofibromatosis type 1 (NF1) gene in a patient with sporadic NF1 associated with dysmorphism, mental retardation, and unusual ocular and skeletal features

2003 ◽  
Vol 12 (3) ◽  
pp. 199-201 ◽  
Author(s):  
Cagatay Oktenli ◽  
Mutlu Saglam ◽  
Seref Demirbas ◽  
Peter Thompson ◽  
Meena Upadhyaya ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Large Deletion ◽  
Nf1 Gene

scholarly journals Mutational spectrum of NF1 gene in 24 unrelated Egyptian families with neurofibromatosis type 1

2021 ◽  
Author(s):  
Nahla Abdel‐Aziz ◽  
Ghada El‐Kamah ◽  
Rabab Khairat ◽  
Hanan Mohamed ◽  
Yehia Gad ◽  
...  
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Mutational Spectrum ◽  
Nf1 Gene

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

1994 ◽  
Vol 94 (1) ◽  
pp. 97-100 ◽  
Author(s):  
Sven Hoffmeyer ◽  
Günter Assum ◽  
Dieter Kaufmann ◽  
Kirsten Schwenk ◽  
Winfrid Krone
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Nf1 Gene

Characterization and significance of nine novel mutations in exon 16 of the neurofibromatosis type 1 (NF1) gene

1997 ◽  
Vol 99 (5) ◽  
pp. 674-676 ◽  
Author(s):  
Julie Maynard ◽  
Michael Krawczak ◽  
M. Upadhyaya
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Novel Mutations ◽  
Nf1 Gene

Evidence of DNA methylation in the neurofibromatosis type 1 (NF1) gene region of 17q11.2

1993 ◽  
Vol 2 (4) ◽  
pp. 439-444 ◽  
Author(s):  
David I. Rodenhiser ◽  
Marion B. Coulter-Mackie ◽  
Shiva M. Singh
Keyword(s):  
Dna Methylation ◽  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Gene Region ◽  
Nf1 Gene

A novel NF1 gene mutation in an Italian family with neurofibromatosis type 1

2010 ◽  
Vol 27 (4) ◽  
pp. 635-638
Author(s):  
Anna Lia Gabriele ◽  
Martino Ruggieri ◽  
Alessandra Patitucci ◽  
Angela Magariello ◽  
Francesca Luisa Conforti ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Italian Family ◽  
Nf1 Gene

Computational insights of K1444N substitution in GAP-related domain of NF1 gene associated with neurofibromatosis type 1 disease: a molecular modeling and dynamics approach

2018 ◽  
Vol 33 (5) ◽  
pp. 1443-1457 ◽  
Author(s):  
Ashish Kumar Agrahari ◽  
Meghana Muskan ◽  
C. George Priya Doss ◽  
R. Siva ◽  
Hatem Zayed
Keyword(s):  
Molecular Modeling ◽  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Nf1 Gene

scholarly journals The impact of host immune cells on the development of neurofibromatosis type 1: The abnormal immune system provides an immune microenvironment for tumorigenesis

2019 ◽  
Vol 2 (Supplement_1) ◽  
pp. i33-i39
Author(s):  
Cheng-Jiang Wei ◽  
Shu-Chen Gu ◽  
Jie-Yi Ren ◽  
Yi-Hui Gu ◽  
Xiang-Wen Xu ◽  
...  
Keyword(s):  
Immune System ◽  
Immune Cells ◽  
Neurofibromatosis Type 1 ◽  
Immune Escape ◽  
Genetic Disorder ◽  
Neurofibromatosis Type ◽  
Complex Interactions ◽  
Nf1 Gene ◽  
The Impact

Abstract AbstractThe immune system plays an essential role in the development of tumors, which has been demonstrated in multiple types of cancers. Consistent with this, immunotherapies with targets that disrupt these mechanisms and turn the immune system against developing cancers have been proven effective. In neurofibromatosis type 1 (NF1), an autosomal dominant genetic disorder, the understanding of the complex interactions of the immune system is incomplete despite the discovery of the pivotal role of immune cells in the tumor microenvironment. Individuals with NF1 show a loss of the NF1 gene in nonneoplastic cells, including immune cells, and the aberrant immune system exhibits intriguing interactions with NF1. This review aims to provide an update on recent studies showing the bilateral influences of NF1 mutations on immune cells and how the abnormal immune system promotes the development of NF1 and NF1-related tumors. We then discuss the immune receptors major histocompatibility complex class I and II and the PD-L1 mechanism that shield NF1 from immunosurveillance and enable the immune escape of tumor tissues. Clarification of the latest understanding of the mechanisms underlying the effects of the abnormal immune system on promoting the development of NF1 will indicate potential future directions for further studies and new immunotherapies.

scholarly journals NF1 gene analysis focused on CpG-rich exons in a cohort of 93 patients with neurofibromatosis type 1

2000 ◽  
Vol 16 (3) ◽  
pp. 274-275 ◽  
Author(s):  
E. Girodon Boulandet ◽  
J. Pantel ◽  
C. Cazeneuve ◽  
M. Van Gijn ◽  
D. Vidaud ◽  
...  
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Gene Analysis ◽  
Nf1 Gene
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