Results 41 to 50 of about 21,253 (159)

Modulation of the neurofibromatosis type 1 gene product, neurofibromin, during Schwann cell differentiation [PDF]

Journal of Neuroscience Research, 1993
AbstractNeurofibromin, the product of the neurofibromatosis type 1 (NF1) gene, is a ∼250 kDa protein expressed predominantly in cortical neurons and oligodendrocytes in the central nervous system (CNS) and sensory neurons and Schwann cells in the peripheral nervous system (PNS). To gain insight into the biological role of neurofibromin in Schwann cells,
Gutmann, D. H., Tennekoon, Gihan I., Cole, Jeffrey L., Collins, Francis S., Rutkowski, J. Lynn   +4 more
openaire   +3 more sources

A Conserved Circadian Function for the Neurofibromatosis 1 Gene

Cell Reports, 2018
Summary: Loss of the Neurofibromatosis 1 (Nf1) protein, neurofibromin, in Drosophila disrupts circadian rhythms of locomotor activity without impairing central clock function, suggesting effects downstream of the clock.
Lei Bai, Yool Lee, Cynthia T. Hsu, Julie A. Williams, Daniel Cavanaugh, Xiangzhong Zheng, Carly Stein, Paula Haynes, Han Wang, David H. Gutmann, Amita Sehgal   +10 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

The Interferon Consensus Sequence-binding Protein Activates Transcription of the Gene Encoding Neurofibromin 1 [PDF]

Journal of Biological Chemistry, 2004
Deficiency of the interferon consensus sequence-binding protein (ICSBP) is associated with increased myeloid cell proliferation in response to hematopoietic cytokines. However, previously identified ICSBP target genes do not indicate a mechanism for this "cytokine hypersensitivity." In these studies, we identify the gene encoding neurofibromin 1 (Nf1 ...
Chunliu, Zhu, Gurveen, Saberwal, Yufeng, Lu, Leonidas C, Platanias, Elizabeth A, Eklund   +4 more
openaire   +2 more sources

Neurofibromin interacts with the cytoplasmic Dynein Heavy Chain 1 in melanosomes of human melanocytes [PDF]

FEBS Letters, 2013
Neurofibromin (NF1) is encoded by the NF1 tumour suppressor gene. Mutations result in a disorder known as Neurofibromatosis Type 1 (NF‐1), and patients are often diagnosed due to the presence of unusual pigmentary patterns that include Café au lait macules (CALMs). Little is known about how loss of NF1 results in pigmentary defects in melanocytes.
Arun, Vedant, Worrell, Lionel, Wiley, Joseph C., Kaplan, David R., Guha, Abhijit   +4 more
openaire   +2 more sources

Nuclear Isoforms of Neurofibromin Are Required for Proper Spindle Organization and Chromosome Segregation

Cells, 2020
Mitotic spindles are highly organized, microtubule (MT)-based, transient structures that serve the fundamental function of unerring chromosome segregation during cell division and thus of genomic stability during tissue morphogenesis and homeostasis ...
Charoula Peta, Emmanouella Tsirimonaki, Dimitris Samouil, Kyriaki Georgiadou, Dimitra Mangoura   +4 more
doaj   +1 more source

Hippo pathway at the crossroads of stemness and therapeutic resistance in breast cancer

Molecular Oncology, EarlyView.
Dysregulation of the Hippo pathway drives nuclear accumulation of YAP/TAZ, activating stemness‐related transcriptional programs that sustain breast cancer stemness and fuel therapeutic resistance across subtypes, underscoring Hippo signaling as a targetable vulnerability. Figure created and edited with BioRender.com.
Giulia Schiavoni, Antonella Palmese, Stefano Scalera, Laura Cipriani, Davide Mascolo, Patrizia Vici, Teresa Arcuri, Lorena Filomeno, Eriseld Krasniqi, Giovanni Blandino, Giulia Bon, Marcello Maugeri‐Saccà   +11 more
wiley   +1 more source

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

Sensitivity of glioblastomas to clinically available MEK inhibitors is defined by neurofibromin 1 deficiency. [PDF]

Cancer Res, 2012
Abstract Loss of neurofibromin 1 (NF1) leads to hyperactivation of RAS, which in turn signals through the RAF/MEK/ERK and phosphoinositide 3-kinase (PI3K)/mTOR pathways to regulate cell growth and survival. Because NF1-deficient acute myeloid leukemias are sensitive to MEK inhibitors, we investigated here whether NF1-deficient ...
See WL, Tan IL, Mukherjee J, Nicolaides T, Pieper RO.   +4 more
europepmc   +6 more sources

Delivery of Pleckstrin‐Homology Domains Suppresses PI3K/Akt Signaling and Breast Cancer Metastasis

Advanced Science, EarlyView.
Current therapies curb tumor growth but not metastasis. Obscurin, a giant metastasis suppressor lost in breast cancer, restrains PI3K/Akt signaling but is impractical to restore. We deploy a mini‐obscurin, comprising the obscurin‐PH‐domain, which sequesters PI3K‐p85, potently suppressing invasion and metastasis.
Matthew Eason, Anindya Sen, Suhan Cho, Se Jong Lee, Keyata Thompson, Md Musavvir Mahmud, Poornima Dubey, Talia Guardia, Anthony Kim, Stuart Martin, Nathan Wright, Konstantinos Konstantopoulos, Aikaterini Kontrogianni‐Konstantopoulos   +12 more
wiley   +1 more source