Results 171 to 180 of about 3,123,862 (240)

Clinical tools in the diagnosis of disorders of sex development: a switch from the hormonal to the genetics laboratory? [PDF]

Adv Lab Med, 2021
Rey RA.
europepmc   +1 more source

RACK7 Interacts with PRC2 Complex to Regulate Astrocyte Development

Advanced Science, EarlyView.
The study investigates the role of RACK7 in brain development using a conditional knockout mouse model. RACK7 deficiency results in developmental defects and abnormal astrocyte development by disrupting H3K27me3 chromatin binding. The underlying mechanism involves RACK7 interacting with the PRC2 complex to regulate the genomic localization of SUZ12 and
Fangfang Jiao, Tianxiang Tang, Bowen Wang, Shengfei He, Yue Zhang, Li Dong, Bo Xu, Ying Liu, Ping Zhu, Rui Guo   +9 more
wiley   +1 more source

Inhibition of Ferroptosis Delays Aging and Extends Healthspan Across Multiple Species

Advanced Science, EarlyView.
This study identifies ferroptosis as a key driver of cellular senescence, with its inhibition delaying aging and extending healthspan across species. During senescence, ferroptosis worsens, increasing oxidative stress and lipid peroxidation, which accelerate aging.
Hai‐Jun Fu, Xing‐Yue Zhou, Da‐Lian Qin, Qan Qiao, Qiao‐Zhi Wang, Shi‐Ying Li, Yun‐Fei Zhu, Ya‐Ping Li, Jiang‐Min Zhou, Hui Cai, Fei‐Hong Huang, Lu Yu, Long Wang, An‐Guo Wu, Jian‐Ming Wu, Xiao‐Gang Zhou   +15 more
wiley   +1 more source

Pathological variants in genes associated with disorders of sex development and central causes of hypogonadism in a whole-genome reference panel of 8380 Japanese individuals. [PDF]

Hum Genome Var, 2022
Shiga N, Yamaguchi-Kabata Y, Igeta S, Yasuda J, Tadaka S, Minato T, Watanabe Z, Kanno J, Tamiya G, Fuse N, Kinoshita K, Kure S, Kondo A, Tachibana M, Yamamoto M, Yaegashi N, Sugawara J.   +16 more
europepmc   +1 more source

MTCH2 Suppresses Thermogenesis by Regulating Autophagy in Adipose Tissue

Advanced Science, EarlyView.
This study demonstrates that MTCH2 acts as an evolutionarily conserved regulator of energy homeostasis across Drosophila, rodents, and humans. Adipose‐specific MTCH2 ablation enhances brown/beige adipose thermogenesis through Bcl‐2‐dependent autophagy, promoting energy expenditure and counteracting obesity‐associated metabolic disorders. These findings
Xin‐Yuan Zhao, Ben‐Chi Zhao, Hui‐Lin Li, Ying Liu, Bei Wang, An‐Qi Li, Tian‐Shu Zeng, Hannah Xiaoyan Hui, Jia Sun, Domagoj Cikes, Nele Gheldof, Jorg Hager, Jian‐Xun Mi, D. Ross Laybutt, Yin‐Yue Deng, Yan‐Chuan Shi, G. Gregory Neely, Qiao‐Ping Wang   +17 more
wiley   +1 more source

Congenital adrenal hyperplasia, disorders of sex development, and infertility in patients with POR gene pathogenic variants: a systematic review of the literature. [PDF]

J Endocrinol Invest, 2023
Gusmano C, Cannarella R, Crafa A, Barbagallo F, La Vignera S, Condorelli RA, Calogero AE.   +6 more
europepmc   +1 more source

Annexin A3 Represses Endothelial Permeability and Inflammation During Sepsis via Actin Cytoskeleton Modulation

Advanced Science, EarlyView.
Annexin A3 (ANXA3) plays an endogenous protective role in endothelial dysfunction in sepsis by stabilizing the actin cytoskeleton, modulating cell permeability, and inhibiting pATF2/CD62E inflammatory signaling. Abstract Increased endothelial permeability and a dysregulated inflammatory response play key roles in organ damage in sepsis.
Manyu Xing, Shuang Liang, Wei Cao, Qulian Guo, Wangyuan Zou   +4 more
wiley   +1 more source

METTL14‐Induced M6A Methylation Increases G6pc Biosynthesis, Hepatic Glucose Production and Metabolic Disorders in Obesity

Advanced Science, EarlyView.
It is shown that obesity is associated with increases in hepatic METTL14 and m6A methylation of G6pc transcript. YTHDF1 and YTHDF3 bind to m6A‐marked G6pc mRNA to increase its synthesis. Hepatocyte‐specific deletion of Mettl14 decreases G6pc m6A methylation, G6pc biosynthesis, and G6pc‐mediated gluconeogenesis, alleviating glucose metabolic defects in ...
Qiantao Zheng, Xiao Zhong, Qianqian Kang, Zhiguo Zhang, Decheng Ren, Yong Liu, Liangyou Rui   +6 more
wiley   +1 more source

The evolving role of whole-exome sequencing in the management of disorders of sex development. [PDF]

Endocr Connect, 2021
Tenenbaum-Rakover Y, Admoni O, Elias-Assad G, London S, Noufi-Barhoum M, Ludar H, Almagor T, Zehavi Y, Sultan C, Bertalan R, Bashamboo A, McElreavey K.   +11 more
europepmc   +1 more source

Identification of CD38high Monocyte as a Candidate Diagnostic Biomarker and Therapeutic Target for Sepsis

Advanced Science, EarlyView.
This study uncovers that CD38high monocytes discriminate sepsis and sterile inflammation and are associated with 28‐day mortality in bacterial sepsis. Targeting CD38 therapy reduces inflammatory response in monocytes and in sepsis mice model. Mechanistically, CD38‐HIF‐1α/glycolysis/MGO loop exacerbates sepsis‐induced immune dysregulation.
Ning Hua, Limin Kong, Li Fan, Yanan Bai, Yujun Zhou, Yanfang Zhang, Qingwei Zhao, Xiaoyang Lu, Hongyu Yang, Hangyang Li, Peili Ding, Yuyu Nan, Qinghua Ji, Ping Yang, Lu Li, Yijing Xin, Lijuan Zhao, Wei Yang, Wenqiao Yu, Saiping Jiang   +19 more
wiley   +1 more source