Results 51 to 60 of about 2,529,505 (194)

A Novel Mutation (C67Y) in the NOTCH3 Gene in a Korean CADASIL Patient [PDF]

Journal of Korean Medical Science, 2003
We report a 52-yr-old Korean woman with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) whose diagnosis was confirmed by skin biopsy and the presence of a novel mutation in the NOTCH3 gene. The patient's clinical features were rather unusual in that 1) clinical presentations were only two episodes of
So-Young, Moon, Hahn-Young, Kim, Jung-Im, Seok, Jae-Chul, Kwon, Chang-Seok, Ki, Jong-Won, Kim, Yeon-Lim, Suh, Duk L, Na   +7 more
openaire   +2 more sources

Integrated Single‐Nucleus Multi‐Omics Atlases Reveal Lineage Plasticity and Regulatory Networks of Luminal Epithelial Cells During Mammary Gland Lactation and Involution

Advanced Science, EarlyView.
This study integrates single‐cell multi‐omics, spatial transcriptomics, and cross‐species comparative analyses to systematically characterize the cellular composition and differentiation trajectories of goat mammary epithelial cells, along with the gene regulatory networks and intercellular communication mechanisms governing these trajectories, thereby
Xiaoru Yan, Xiaoyu Mi, Guanghui Tan, Xinmei Li, Zhenliang Zhu, Zhenyu Wei, Huimei Fan, Yamei Wu, Tao Shi, Lingzhao Fang, Yuanpeng Gao, Yu Wang, Jun Liu   +12 more
wiley   +1 more source

CD248/Endosialin regulates synovial fibroblast state to control coupling of inflammation and bone damage in murine models of immune‐mediated inflammatory arthritis and ageing

Arthritis &Rheumatology, Accepted Article.
Objective Synovial fibroblasts directly contribute to inflammation and damage in immune‐mediated inflammatory arthritis. CD248/Endosialin is expressed by fibroblasts in the synovium, is highly upregulated during inflammation and has been proposed as a potential therapeutic target.
Samuel Kemble, Corinna Wehmeyer, James M. Brown, Charlotte G. Smith, Holly R. Adams, Eva Crombie, Ellie Northall, Maryam Imran, Paulynn Chin, Harris R. Perlman, Christopher D. Buckley, Adam P. Croft, Amy J. Naylor   +12 more
wiley   +1 more source

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 as a prognostic biomarker and its correlation with immune infiltration in gastrointestinal cancers

Scientific Reports
NOTCH receptor 3 (NOTCH3) is known to regulate the transcription of oncogenes or tumor suppressor genes, thereby playing a crucial role in tumor development, invasion, maintenance, and chemotherapy resistance.
Jia Xu, Xiao-li Jin, Hao Shen, Xuan-wei Chen, Jin Chen, Hui Huang, Bin Xu, Jian Xu   +7 more
doaj   +1 more source

NOTCH3 is a Prognostic Factor and Is Correlated With Immune Tolerance in Gastric Cancer

Frontiers in Oncology, 2021
IntroductionAlthough traditional treatments confer survival benefits to patients with gastric cancer (GC), many patients experience relapse soon after postoperative adjuvant therapy.
Yuehong Cui, Qian Li, Wei Li, Yan Wang, Fang Lv, Xinying Shi, Zhaoqing Tang, Zhenbin Shen, Yingyong Hou, Henghui Zhang, Beibei Mao, Tianshu Liu   +11 more
doaj   +1 more source

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

Sex‐Specific Proteomic Profiling Identifies Pregnancy Zone Protein as a Complement‐Linked Marker of Adverse Prognosis in Esophageal Adenocarcinoma

International Journal of Cancer, EarlyView.
ABSTRACT Esophageal adenocarcinoma (EAC) exhibits marked male predominance with male‐to‐female ratios reaching 8.5:1, yet the molecular basis underlying this sex disparity remains poorly characterized. We analyzed 92 EAC specimens using mass spectrometry–based proteomics, comprising 47 female and 45 male tumors from treatment‐naïve patients ...
Alexander Quaas, Hanna Schiemann, Su Ir Lyu, Thomas Zander, Axel Hillmer, Hans Schlößer, Christiane J. Bruns, Reinhard Büttner, Bastian Grothey   +8 more
wiley   +1 more source

Notch3 restricts metastasis of breast cancers through regulation of the JAK/STAT5A signaling pathway

BMC Cancer, 2023
Purpose To explore the potential role of signal transducer and activator of transcription 5A (STAT5A) in the metastasis of breast cancer, and its mechanism of regulation underlying.
Min-Na Chen, Ze-Xuan Fang, Zheng Wu, Jing-Wen Bai, Rong-Hui Li, Xiao-Fen Wen, Guo-Jun Zhang, Jing Liu   +7 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