Results 11 to 20 of about 25,034,870 (238)

Case Report: Mosaicism of a novel nonsense variant in the neurofibromin gene underlies a mosaic generalized NF1 phenotype [version 2; peer review: 2 approved]

F1000Research, 2021
Neurofibromatosis 1 (NF1) is a neurocutaneous syndrome characterized by multiple café-au-lait macules, cutaneous neurofibromas or plexiform neurofibromas, iris Lisch nodules, axillary and inguinal freckling.
Hui Li Kwong, Yong-Kwang Tay, Ene-Choo Tan   +2 more
doaj   +2 more sources

Case Report: Mosaicism of a novel nonsense variant in the neurofibromin gene underlies a mosaic generalized NF1 phenotype [version 1; peer review: 2 approved]

F1000Research, 2021
Neurofibromatosis 1 (NF1) is a neurocutaneous syndrome characterized by multiple café-au-lait macules, cutaneous neurofibromas or plexiform neurofibromas, iris Lisch nodules, axillary and inguinal freckling.
Hui Li Kwong, Yong-Kwang Tay, Ene-Choo Tan   +2 more
doaj   +2 more sources

FGF15/FGFR4 signaling suppresses M1 macrophage polarization and multi-organ inflammation in septic mice by inhibiting H3K18 lactylation-driven Irf7 expression through NF2-Hippo activation

Cell Death and Disease
M1 macrophage polarization plays a key role in the onset and progression of sepsis. Fibroblast growth factor 15 (FGF15) suppresses septic inflammation through its FGF receptor 4 (FGFR4); however, the underlying mechanisms are largely unclear.
Bo Li, Jiayu Li, Zexiang Zhu, Yong Tang, Yun Zhou, Geshu Du, Xing Li   +6 more
doaj   +2 more sources

Advanced Computational Pipeline for FAK Inhibitor Discovery: Combining Multiple Docking Methods with MD and QSAR for Cancer Therapy

Computation
Synthetic lethality, involving the simultaneous deactivation of two genes, disrupts cellular functions or induces cell death. This study examines its role in cancer, focusing on focal adhesion kinase and Neurofibromin 2.
Pinar Siyah
doaj   +2 more sources

MicroRNA-92a negatively regulates neurofibromin 2 and inhibits its tumor suppressive function

bioRxiv, 2018
ABSTRACTInactivation of the tumor suppressor Merlin leads to the development of benign nervous system tumors of neurofibromatosis type 2. Merlin deficiency is also observed in human malignancies including colorectal and lung cancers. Causes of Merlin inactivation include deleterious mutations in the encoding neurofibromin 2 gene (NF2) and aberrant ...
K. Alcantara, Reynaldo L. Garcia
semanticscholar   +3 more sources

Lead exposure promotes NF2-wildtype meningioma cell proliferation through the Merlin-Hippo signaling pathway

Environmental Health and Preventive Medicine
Background: Lead is a persistent inorganic environmental pollutant with global implication for human health. Among the diseases associated with lead exposure, the damage to the central nervous system has received considerable attention.
Nenghua Zhang, Xiaohua Shen, Yunnong Yu, Long Xu, Zheng Wang, Jia Zhu   +5 more
doaj   +2 more sources

Neurofibromatosis in Children: Actually and Perspectives

Children, 2022
The three types of neurofibromatosis, namely type 1, type 2, and schwannomatosis, are generally associated with various benign tumors affecting the skin and the nervous system. On rare occasions, especially in patients with neurofibromatosis type 1 (NF1),
Maria Lucia Sur, Ionel Armat, Genel Sur, Diana-Cristina Pop, Gabriel Samasca, Iulia Lupan, Teodora-Larisa Timis, Ioan-Alexandru Florian, Daniel Sur   +8 more
doaj   +1 more source

Rare Association Between Neurofibromatosis Type 1 and Adrenocortical Carcinoma. [PDF]

Clin Case Rep
Axial slice CT abdomen pelvis with portal venous contrast, revealing a well circumscribed 22 × 20 × 22 mm left adrenocortical adenocarcinoma (ACC) in a patient with neurofibromatosis type 1 (NF1). ABSTRACT Although rare, adrenocortical carcinoma (ACC) should be considered in individuals with neurofibromatosis type 1 (NF1) presenting with adrenal ...
Pluim Z, Choi JDW, Kakala B, Wong J, Clifton-Bligh R, Sywak M, Howle J.   +6 more
europepmc   +2 more sources

A novel NF2 splicing mutant causes neurofibromatosis type 2 via liquid-liquid phase separation with large tumor suppressor and Hippo pathway

iScience, 2022
Summary: Neurofibromatosis type 2 is an autosomal dominant multiple neoplasia syndrome and is usually caused by mutations in the neurofibromin 2 (NF2) gene, which encodes a tumor suppressor and initiates the Hippo pathway. However, the mechanism by which
Zexiao Jia, Shuxu Yang, Mengyao Li, Zhaoying Lei, Xue Ding, Mingjie Fan, Dixian Wang, Dajiang Xie, Hui Zhou, Yue Qiu, Qianqian Zhuang, Dan Li, Wei Yang, Xuchen Qi, Xiaohui Cang, Jing-Wei Zhao, Wenqi Wang, Aifu Lin, Qingfeng Yan   +18 more
doaj   +1 more source

PLPP/CIN-mediated NF2-serine 10 dephosphorylation regulates F-actin stability and Mdm2 degradation in an activity-dependent manner

Cell Death and Disease, 2021
Neurofibromin 2 (NF2, also known as merlin) is a tumor suppressor protein encoded by the neurofibromatosis type 2 gene NF2. NF2 is also an actin-binding protein that functions in an intrinsic signaling network critical for actin dynamics.
Ji-Eun Kim, Duk-Shin Lee, Tae-Hyun Kim, Hana Park, Min-Ju Kim, Tae-Cheon Kang   +5 more
doaj   +1 more source