Results 131 to 140 of about 21,253 (159)
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Nature Genetics, 2007
We investigated the pathophysiology of neurofibromatosis-1 (NF1) in Drosophila melanogaster by inactivation or overexpression of the NF1 gene. NF1 gene mutants had shortened life spans and increased vulnerability to heat and oxidative stress in association with reduced mitochondrial respiration and elevated reactive oxygen species (ROS) production ...
James Jiayuan, Tong +4 more
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We investigated the pathophysiology of neurofibromatosis-1 (NF1) in Drosophila melanogaster by inactivation or overexpression of the NF1 gene. NF1 gene mutants had shortened life spans and increased vulnerability to heat and oxidative stress in association with reduced mitochondrial respiration and elevated reactive oxygen species (ROS) production ...
James Jiayuan, Tong +4 more
openaire +2 more sources
Targeting Neurofibromin 1 Inactivation in High-Grade Serous Ovarian Carcinoma
Annually, around 300,000 new cases of ovarian cancer are diagnosed worldwide, with 200,000 deaths. The most common and most deadly form of ovarian cancer, high-grade serous carcinoma (HGSC), accounts for the great majority of those deaths. HGSC almost always presents with peritoneal disease spread that requires the use of systemic therapy in addition ...openaire +1 more source
Neurofibromin in neurofibromatosis type 1 - mutations in NF1gene as a cause of disease.
Developmental period medicine, 2014Neurofibromatosis type I (NF1) is a disease associated with the presence of benign neurofibromas and malignant tumours of the central and peripheral nervous system, that are accompanied by characteristic changes in the skin, such as café-au-lait spots or axillary freckling.
Anna, Abramowicz, Monika, Gos
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Structural basis of activation of the tumor suppressor protein neurofibromin
Molecular Cell, 2022Sebastiaan Werten +2 more
exaly
Neurofibromin binding partners and signaling pathways in neurofibromatosis type 1
2022Báez-Flores, Juan +2 more
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[Characterization of the neurofibromatosis type 1 gene and neurofibromin's role in cells].
Nihon rinsho. Japanese journal of clinical medicine, 2000Neurofibromatosis type 1(NF1), a pleiotrophic autosomal dominant disorder, was first described in 1882 by Friedrich Daniel von Recklinghausen. The cloning of the NF1 gene located at 17q11.2 revealed that the gene contains 60 exons and spans 350 kb of genomic DNA in 1990. The gene product of NF1 is neurofibromin.
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The structure of neurofibromin isoform 2 reveals different functional states
Nature, 2021Andreas Naschberger +2 more
exaly
Neurofibromin Regulation of ERK Signaling Modulates GABA Release and Learning
Cell, 2008Rui M Costa Dvm +2 more
exaly
Neurofibromin Is an Estrogen Receptor-α Transcriptional Co-repressor in Breast Cancer
Cancer Cell, 2020Meenakshi Anurag +2 more
exaly