Results 91 to 100 of about 856,105 (317)

Organ‐Specific and Conserved Regulatory Logic Orchestrates Gene Expression in the Embryonic Mesothelium

Advanced Science, EarlyView.
Integrated multi‐omic profiling maps the gene‐regulatory landscape of the coelomic mesothelium across heart, lung, and pancreas. A cardiac‐restricted regulatory program is uncovered in which TBX20 activates heart mesothelial (epicardial) cis‐regulatory elements, while MAF emerges as a conserved regulator of mesothelial identity.
Quang Minh Dang, Nicola Smart, Andia Nicole Redpath, Joaquim Miguel Vieira   +3 more
wiley   +1 more source

Analysis of Genotypes and Phenotypes in Chinese Patients With Tuberous Sclerosis Complex Harboring Novel Variants of TSC1 and TSC2 Genes

International Journal of Genomics
Conclusions: This study broadens the spectrum of variants of TSC1 and TSC2 genes, reaffirming the clinical diagnosis of patients through genetic testing.
Jian Chen, Hairui Sun, Ling Han, Xiaoyan Gu, Xiaoyan Hao, Yuwei Fu, Zongjie Weng, Yi Xiong, Baomin Liu, Hongjia Zhang, Yihua He, Hong Li   +11 more
doaj   +1 more source

Paternal mosaicism proves the pathogenic nature of mutations in neutrophil elastase in severe congenital neutropenia

, 2002
Heterozygous mutations in neutrophil elastase have been detected in many sporadic cases of congenital neutropenia. However, a convincing pathogenetic mechanism has not been established, and it is unclear whether the effects of the mutant enzyme occur ...
Ancliff, PJ, Gale, RE, David C. Linch, Rosemary E. Gale, Ri Liesner, Phil J. Ancliff, Ian M. Hann, Strobel, S, Liesner, R, Hann, IM, Watts, MJ, Michael J. Watts, Stephan Strobel, Linch, DC   +13 more
core   +1 more source

G3BP1 Succinylation at K413 is Critical for Cardiac Function by Modulating PI3K‐AKT‐mTOR Signal Axis

Advanced Science, EarlyView.
Schematic illustrating the impact of G3BP1 succinylation at K413 on cardiac function. In the healthy human heart, G3BP1 succinylation maintains homeostatic mTOR signaling. In patients with dilated cardiomyopathy (DCM) and heart failure (HF), G3BP1 de‐succinylation induces RagA expression and disrupts the binding of the TSC1/2 complex, leading to the ...
Yuan Zhang, Cancan Yao, Yan Chen, Ke Cai, Zhouping Lu, Boxuan Wu, Kun Yu, Yan Shi, Jianyuan Zhao, Xiangyu Zhou   +9 more
wiley   +1 more source

Epithelial TRIM27 Inhibits Intestinal Inflammation in Ulcerative Colitis by the USP7/TRIM27‐IKK Double Negative‐Feedback

Advanced Science, EarlyView.
ABSTRACT The E3 ubiquitin ligase tripartite motif 27 (TRIM27) is a negative regulator of NF‐κB activation and the innate immune response, and TRIM27 deficiency significantly impairs dextran sulfate sodium (DSS)‐induced colitis. The function of TRIM27 in intestinal epithelial cells (IECs), the mechanism by which TRIM27 inhibits the NF‐κB pathway and its
Weimin Xu, Zhebin Hua, Zhujiang Dai, Shasha Zhang, Yihan Jiang, Wensong Ge, YingWei Chen, Zhongchuan Wang, Bing Zhang, Chen‐Ying Liu, Peng Du   +10 more
wiley   +1 more source

Inflammation Unchecked: Concurrent Kawasaki Disease and Stevens‐Johnson Syndrome in an 18‐Month‐Old Child

Arthritis Care &Research, EarlyView.
Catherine Deffendall, Jodi Backalar, Elizabeth Acevedo Zapata, Adriana Della Porta, Lorin Bibb, Tyler Reese, Charlotte M. Brown   +6 more
wiley   +1 more source

Targeting Supramolecular Active Complexes of Nav1.7/Nav1.8 to Relieve Chronic Neuropathic Pain

Advanced Science, EarlyView.
In mice and patients with severe chronic neuropathic pain (NP), Nav1.7, Nav1.8, TrkB, and five cytoskeletal proteins form supramolecular active complexes (SMACs) with polygonal lattice structures as noxious signal amplifiers in dorsal root ganglion (DRG) neurons.
Liting Sun, Hang Xian, Yunxin Shi, Taotan Yang, Hongyan Shuai, Wenchao Hu, Siying Fei, Miao Xu, Taoyuan Yang, Ruilong Xia, Ting Wen, Fengting Zhu, Yan Fu, Yang Li, Wei Xia, Ran Qian, Yuanying Liu, Zhicheng Tian, Lamei Li, Qian Zhou, Lize Xiong, Rui Cong, Ceng Luo, Shengxi Wu, Xiafeng Shen, Xin Yu, Rou‐Gang Xie, Changgeng Peng   +27 more
wiley   +1 more source

ApoM maintains cellular homeostasis between mitophagy and apoptosis by affecting the stability of Nnt mRNA through the Zic3-ApoM-Elavl2-Nnt axis during neural tube closure

Cell Death and Disease
Research on the aetiology of neural tube defects (NTDs) has made progress in recent years. However, the molecular mechanism of apolipoproteins underlying NTDs development remains unclear.
Qing Liu, Dan Liu, Yuejiao Wang, Xiaowei Wei, Wei Ma, Hui Gu, Shanshan Jia, Yiwen He, Wenting Luo, Songying Cao, Zhonghua Yang, Anhua Wu, Zhengwei Yuan   +12 more
doaj   +1 more source

(?) CONGENITAL SYNOSTOSIS. [PDF]

The Lancet, 1919
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openaire   +1 more source

Lyophilized Synthetic Platelets: In Vitro Characterization and in Vivo Evaluation in Mouse Thrombocytopenia Model

Advanced Science, EarlyView.
ABSTRACT Platelet transfusions to treat bleeding complications use donor‐derived platelets stored at room‐temperature, that have a shelf‐life of only 5–7 days due to bacterial contamination risks. Cold‐stored and freeze‐dried platelets are being investigated for extending shelf‐life, but these still have the inherent challenge of donor‐dependency.
Ujjal Didar Singh Sekhon, Dante Disharoon, Shrijal S. Desai, Baylee Traylor, Emily Gahagan, Emma Quill, Kristin Aldridge, Norman F. Luc, Sonali Rohiwal, Shruti Raghunathan, Rebecca Ahn, Sana Syed, Alexander Dornback, Bipin Chakravarthy Paruchuri, Andrew Ditto, Susan M. Shea, Philip C. Spinella, Matthew D. Neal, Michael A. Bruckman, Christa L. Pawlowski, Anirban Sen Gupta   +20 more
wiley   +1 more source