Results 51 to 60 of about 17,508 (213)

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

NOTCH3: Pan-Cancer Expression Profiling, Functional Heterogeneity, and Clinical Prognostic Implications [PDF]

BIO Web of Conferences
To investigate NOTCH3's expression, genomic alterations, functional heterogeneity and prognostic value in pan-cancer, and evaluate its potential as a pan-cancer biomarker.
Wei Jiatao
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

The Role of Notch3 Signaling in Kidney Disease

Oxidative Medicine and Cellular Longevity, 2020
Notch receptors are transmembrane proteins that are members of the epidermal growth factor-like family. These receptors are widely expressed on the cell surface and are highly conserved. Binding to ligands on adjacent cells results in cleavage of these receptors, and their intracellular domains translocate into the nucleus, where target gene ...
Cheng Yuan, Lihua Ni, Changjiang Zhang, Xiaoyan Wu   +3 more
openaire   +2 more sources

The NOTCH3 score: a pre-clinical CADASIL biomarker in a novel human genomic NOTCH3 transgenic mouse model with early progressive vascular NOTCH3 accumulation [PDF]

Acta Neuropathologica Communications, 2015
CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy) is a hereditary small vessel disease caused by mutations in the NOTCH3 gene, leading to toxic NOTCH3 protein accumulation in the small- to medium sized arterioles.
Rutten, J.W., Klever, R.R., Hegeman, I.M., Poole, D.S., Dauwerse, H.G., Broos, L.A.M., Breukel, C., Aartsma-Rus, A.M., Verbeek, J.S., Weerd, L. van der, Duinen, S.G. van, Maagdenberg, A.M.J.M. van den, Oberstein, S.A.J.L.   +12 more
openaire   +3 more sources

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

Vascular NOTCH3 Deposition Load

Neurology Genetics
Vascular NOTCH3 extracellular domain (NOTCH3ECD) deposition is the pathologic hallmark of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). We aimed to explore the relationships among the NOTCH3ECD deposition load, the NOTCH3 variant genotype, and cerebral small vessel disease (SVD) severity.Fifty ...
Yu-Wen Cheng, Chih-Hao Chen, Chi-Chao Chao, Ya-Fang Chen, Jiann-Shing Jeng, Sung-Chun Tang, Sung-Tsang Hsieh   +6 more
openaire   +2 more sources

Non-canonical NOTCH3 signalling limits tumour angiogenesis.

, 2017
Notch signalling is a causal determinant of cancer and efforts have been made to develop targeted therapies to inhibit the so-called canonical pathway.
Shuheng Lin, Benjamin Gibert, Nicolas Gadot, Mehlen, Patrick, Bulusu, Sirisha, Patrick Mehlen, Ducarouge, Benjamin, Sirisha Bulusu, Pierre Saintigny, Negulescu, Ana, Jean-Guy Delcros, Nicolas Rama, Lin, Shuheng, Ana Negulescu, Gadot, Nicolas, Saintigny, Pierre, Delcros, Jean-Guy, Meurette, Olivier, Gibert, Benjamin, Treilleux, Isabelle, Benjamin Ducarouge, Rama, Nicolas, Olivier Meurette, Isabelle Treilleux   +23 more
core   +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

Clinicopathological characteristics of osteosarcoma and prognostic significance of Notch receptors and ligands expression: analysis of 70 cases

Di-san junyi daxue xuebao, 2019
Objective To investigate the clinicopathological features of osteosarcoma and the prognostic significance of the expression of Notch receptors and ligands.
TANG Xuefeng, ZENG Ying, WANG Yali
doaj   +1 more source