Results 41 to 50 of about 1,245,456 (166)

Epilepsy‐associated SCN2A‐L1342P mutation drives network hyperexcitability and widespread transcriptomic changes in human cortical organoids

Epilepsia, EarlyView.
Abstract Objective SCN2A pathogenic mutations, such as the recurrent heterozygous Nav1.2‐L1342P, are monogenic causes of epilepsy. In this human‐induced pluripotent stem cell–derived model system, we aim to investigate the molecular and cellular mechanisms underlying SCN2A‐L1342P‐associated pathology. Methods Using a human male induced pluripotent stem
Maria I. Olivero‐Acosta, Morgan Robinson, Zhefu Que, Zaiyang Zhang, Karen V. Salazar‐Salazar, Hope Elizabeth Harlow, Vinayak Shankar, Seoyeon Hong, Muhan Wang, Conrad M. Otterbacher, Hina Kadono, Manasi Halurkar, Harish Kothandaraman, Nadia Atallah Lanman, Trang Nguyen, Kyle Wettschurack, Benjamin Zirkle, Layan Yunis, Ningren Cui, Xiaoling Chen, Jingliang Zhang, Jiaxiang Wu, William C. Skarnes, Chongli Yuan, Feng Guo, Megan Abbott, Yang Yang   +26 more
wiley   +1 more source

The ectodomain of the Notch3 receptor accumulates within the cerebrovasculature of CADASIL patients

, 2000
Mutations in Notch3 cause CADASIL (cerebral autosomal dominant adult onset arteriopathy), which leads to stroke and dementia in humans. CADASIL arteriopathy is characterized by major alterations of vascular smooth muscle cells and the presence of ...
Battail, N, Françoise Chapon, Tournier-Lasserve, E, Gaulis, S, Nadia Piga, Domenga, V, Nicole Battail, Elisabeth Tournier-Lasserve, Godfrain, C, Andreux, F, Piga, N, Michaelle Cecillon, Chapon, F, Cecillon, M, Joutel, A, Fréderic Andreux, Anne Joutel, Valérie Domenga, Catherine Godfrain, Swann Gaulis   +19 more
core   +1 more source

Piezo1-mediated fluid shear stress promotes OPG and inhibits RANKL via NOTCH3 in MLO-Y4 osteocytes

Channels, 2022
Piezo1, a mechanosensitive ion channel, participates in a variety of biological processes in maintaining bone homeostasis. As the most abundant cells in bones of the mammals, osteocytes play an essential role in bone formation, remodeling, and bone mass ...
Zhongcheng Liu, Yuchen Tang, Liangzhi He, Bin Geng, Fan Lu, Jinwen He, Qiong Yi, Xuening Liu, Kun Zhang, Lifu Wang, Yayi Xia, Jin Jiang   +11 more
doaj   +1 more source

Ovarian Cancer: Epidemiology, Disease Mechanisms, New Diagnosis and Treatment Strategies, and Research Directions

iNew Medicine, EarlyView.
ABSTRACT Ovarian cancer (OC) continues to be the deadliest gynecological malignancy and a significant cause of cancer‐related mortality among women worldwide. Standard treatment strategies typically entail platinum‐based chemotherapy in conjunction with cytoreductive surgery.
Zunera Khalid, Weirong Fan, Farah Nazir, Yixiang Xing, Tengchuan Jin   +4 more
wiley   +1 more source

Regulation of pro-metastatic Notch3 receptor in melanoma [PDF]

, 2023
Metastatic melanoma, which can form distant metastases through the lymphatic vessels, is the deadliest type of all skin cancer. Lymphatic endothelial cells facilitate metastasis of melanoma cells by activating the Notch3 signaling pathway in melanoma ...
Monto, Elisa
core  

NOTCH3 active immunotherapy reduces NOTCH3 deposition in brain capillaries in a CADASIL mouse model

, 2022
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most common monogenic form of familial small vessel disease and no preventive or curative therapy is available.
Jin, S, Oliveira, DV, Sandin, J, Del, Gaudio F,, Lundkvist, J, Oberstein, SAJL, Fox, R, Rutten, JW, Coupland, KG, Wang, S   +9 more
core   +1 more source

Notch3 enhances the synergistic effect of all-trans retinoic acid and calcipotriol in pancreatic stellate cell activation

Journal of Translational Medicine
Background Chronic pancreatitis (CP) is characterized by progressive fibrosis and the activation of pancreatic stellate cells (PSCs). As major producers of collagen-I and fibronectin, PSCs play important roles in pancreatic fibrosis, but few studies have
Zheng Lian, Wei-hong Du, Paizi-guli Tusup-han, Yu-xiang Zhang   +3 more
doaj   +1 more source

RANBP1 Regulates NOTCH3-Mediated Autophagy in High Glucose-Induced Vascular Smooth Muscle Cells

Frontiers in Bioscience-Landmark
Background: Vascular smooth muscle cells(VSMCs) phenotypic switching under hyperglycemic conditions accelerates atherosclerotic progression.
Zhong-jiao Xu, Jian Xu, Wen-jing Lei, Xiang Wang, Qi-lin Zou, Lin-chun Lv, Chong Liu, Wu-ming Hu, Yi-jia Xiang, Jia-yi Shen, Tie-min Wei, Chun-lai Zeng   +11 more
doaj   +1 more source

Activation of Notch3 promotes pulmonary arterial smooth muscle cells proliferation via Hes1/p27Kip1 signaling pathway

FEBS Open Bio, 2015
Activation of the Notch3 cascade is involved in the development of pulmonary arterial hypertension by stimulating the proliferation of vascular smooth muscle cells. However, the detailed molecular mechanisms underlying this effect are still unclear.
Yang Song, Yonghong Zhang, Haoxiang Jiang, Yanting Zhu, Lu Liu, Wei Feng, Lan Yang, Yibin Wang, Manxiang Li   +8 more
doaj   +1 more source

Genetic Mutations in Recurrent/Metastatic Papillary Thyroid Carcinoma

The Laryngoscope, EarlyView.
We investigated the mutational landscape and prognostic implications of recurrent/metastatic papillary thyroid carcinoma using nationwide C‐CAT data from 348 patients. CDKN2A, KMT2D, and concurrent TERT/BRAF mutations were independently associated with poorer overall survival, highlighting the potential prognostic value of comprehensive genomic ...
Hiromi Nagano, Satoshi Kiyama, Takayuki Kyutoku, Masaru Yamashita   +3 more
wiley   +1 more source