Results 121 to 130 of about 220,107 (299)

Update on the fluorometric measurement of enzymatic activities for Lysosomal Storage Disorder detection: The example of MPS VI [PDF]

, 2017
Lysosomal Storage Disorders (LSD) are rare diseases that as a whole havea combined incidence ranging from 1:1500 to 1:7000 live births. One of suchdiseases is Mucopolysaccharidosis VI (MPS VI), or Maroteaux Lamy Syndrome.MPS VI patients undergo ...
Adamo, Ana María, Franco, Paula Gabriela, Mathieu, Patricia Andrea, Perez, Maria Julia, Setton, Clara Patricia, Silvestroff, Lucas   +5 more
core  

ELABELA Targets Mitochondria to Modulate Heart Development

Advanced Science, EarlyView.
The role of peptide ELABELA (ELA) in cardiomyocyte apoptosis and congenital heart disease (CHD) is unclear. ELA deficiency caused cardiomyocyte apoptosis and CHD. A novel ELA‐APJ‐AKT‐BCL2/BAX axis in regulating mitochondrial function and contributing to CHD pathogenesis was established.
Jian Wang, Qingjie Wang, Zhikang Xu, Shuang Zhou, Yue Zhou, Junjie Yang, Lingfeng Tong, Zhuo Meng, Mei Yang, Wen Zhao, Tie Yang, Hualin Wang, Jun Zhang, Rubin Tan, Lei Wang, Yuqiang Huang, Bin Zhou, Sun Chen, Bing Zhang, Jinxiang Yuan, Jianyuan Zhao, Alex F. Chen, Kun Sun   +22 more
wiley   +1 more source

Pediatric residents\u27 use of jargon during counseling about newborn genetic screening results [PDF]

, 2008
OBJECTIVE. The goal was to investigate pediatric residents’ usage of jargon during discussions about positive newborn screening test results. METHODS.
Christopher, Stephanie, Deuster, Lindsay, Donovan, Jodi, Farrell, Michael   +3 more
core   +1 more source

Ovarian Matrisome Dynamics and αvβ3‐Mediated Regulation in Early Follicular Development

Advanced Science, EarlyView.
The matrisome undergoes dynamic remodeling during early follicular development. Integrin αvβ3 mediates matrisome signals, regulating primordial follicle activation/atresia and secondary follicle growth via Hippo/mTOR pathways, with conserved roles in human ovaries, offering therapeutic targets for ovarian disorders.
Tong Wu, Yanzhi Feng, Qingqing Zhu, Ting Jiang, Yueyue Gao, Kebing Nie, Xianan Tang, Ying Chen, Dianxing Hu, Xudan Yang, Shixuan Wang, Meng Wu, Jinjin Zhang   +12 more
wiley   +1 more source

A NEW OUTCOME MEASURE FOR COST-UTILITY ANALYSES OF SCREENING PROGRAMS [PDF]

In this paper we provide a new outcome measure for the cost-utility analyses of alternative screening programs of a particular disease. We show that for non-invasive screening programs satisfying plausible assumptions, QALYs can be replaced by a simpler ...
Carmen Herrero Blanco, Juan D. Moreno Ternero   +1 more
core  

Microglia Mitochondria Support Neuronal Maturation via Metabolic and Transcriptional Reprogramming in Human 3D In Vitro Brain Model

Advanced Science, EarlyView.
xx xx. ABSTRACT Autism Spectrum Disorder (ASD) is a neurodevelopmental condition characterized by disrupted neuronal circuit maturation. Emerging evidence implicates microglial function and mitochondrial regulation as contributors to ASD‐associated biology, yet the mechanisms linking these processes to neuronal development remain poorly defined ...
Sydney P. Sterben, Charitha C. Anamala, Sahan B. S. Kansakar, Vaishnavi Koduri, Volha Liaudanskaya   +4 more
wiley   +1 more source

ERK‐Mediated Phosphorylation of YAP Defines a Noncanonical FGF Signaling Mechanism in Stem Cells

Advanced Science, EarlyView.
With a powerful combination of in vivo, ex vivo, and in vitro models, the authors highlight a novel FGF‐ERK signaling regulation of YAP at the S128 site in neural crest‐derived stem cells. This study opens exciting new directions in stem cell biology and craniofacial biology, paving the way for potential innovations in the treatment of craniofacial ...
Xiaolei Zhao, Shannon Erhardt, Li Tang, Xiaotong Chen, Stephen M Farmer, Zixiu Cheng, Wen Chen, Ella Ziyuan Lu, Kihan Sung, Chang‐Ru Tsai, Mingjie Zheng, Sheng Zhang, Yang Liu, Jianxin Wang, Min Li, James F Martin, Jun Wang   +16 more
wiley   +1 more source

Farnesyltransferase Deficiency in Cardiomyocytes Initiates Senescence and Contributes to Cardiac Fibrosis

Advanced Science, EarlyView.
Lipid overload suppresses SREBF2‐mediated FNTB expression, leading to defective Lamin A maturation and nuclear envelope instability. This nuclear catastrophe triggers a pro‐fibrotic senescence program in cardiomyocytes. Notably, restoring nuclear integrity via AAV9‐based gene therapy effectively attenuates cardiac remodeling, identifying the ...
Yuxiao Chen, Lian Lou, Xuan Zhang, Lin Yan, Qi Zhang, Wen Shi, Jie Ding, Xu Lin, Rong Jiang, Shuo Liu, Thida Sok, Pengli Wang, Yun Mou, Jie Han, Shenjiang Hu, Xiaogang Guo, Jian Yang   +16 more
wiley   +1 more source

Assessment of the incidence of sensorineural hearing loss among infants admitted to neonatal intensive care unit in health centers of Golestan University of Medical Sciences, Iran [PDF]

, 2014
Materials and methods: In this prospective cohort study, 870 neonates were recruited by nonrandom sampling method. After filling in the demographic and clinical check lists, automated auditory brainstem response (AABR) was performed for neonates at the ...
Alaee, E., Fouladinejad, M., Sirati, M.
core  

GATA4‐Driven Transcription of HtrA1 Promotes Cellular Senescence in Ménière's Disease and Age‐Related Audio‐Vestibular Dysfunction

Advanced Science, EarlyView.
This study identifies the HDAC6/GATA4/HtrA1 axis as a critical driver of cellular senescence in the inner ear. GATA4 nuclear translocation, facilitated by HDAC6 downregulation, transcriptionally activates HtrA1, promoting hair cell senescence, SASP, and audio‐vestibular dysfunction in models of Ménière's disease and age‐related audio‐vestibular ...
Na Zhang, Na Li, Yan Wang, Jing Zhang, Jiahui Liu, Lei Chen, Yongdong Song, Yurong Mu, Yuechen Han, Yafeng Lyu, Xiaofei Li, Hanyue Wang, Jing Wang, Yao Lu, Zhaomin Fan, Daogong Zhang, Haibo Wang   +16 more
wiley   +1 more source