Results 41 to 50 of about 8,625 (250)

KLF5 Downregulation Links Impaired BNIP3‐Mediated Mitophagy to Inflammatory Valve Remodeling in Calcific Aortic Valve Disease

Advanced Science, EarlyView.
In human CAVD, KLF5 is reduced in VIC‐rich regions and remodeling/stress‐associated VIC states. In VICs, KLF5 sustains BNIP3 promoter activity and BNIP3‐mediated mitophagy, thereby limiting cytosolic mtDNA accumulation. KLF5 loss weakens mitochondrial quality control and enhances mtDNA‐sensitive STING/NF‐κB/NLRP3 inflammatory signaling under osteogenic
Jin‐Hui Bian, Jia‐Xi Gu, Zhang Yue, Chun‐Ze Yuan, Hai‐Bin Ji, Ao Li, Yu Zhong, Xiu‐Fan Xu, Yu‐Qiu He, Ye‐Fan Jiang, Hong‐Shan Chen, Xiang Chen, Meng‐Lin Chao, Yong‐Feng Shao   +13 more
wiley   +1 more source

Combined Factor VII and X Deficiency

Online Journal of Health & Allied Sciences, 2011
Factor VII deficiency and factor X deficiency and very rare disorders individually. Combined Factor VII and X is a rare congenital blood disorder with very few cases reported in the literature.
Gursharan Singh Narang,, Sunita Arora,, Jivtesh Singh Pahwa,   +2 more
doaj  

Deubiquitination of Vangl by USP6 and USP32 Regulates Planar Cell Polarity Signaling

Advanced Science, EarlyView.
Compartment‐specific deubiquitination controls Vangl dosage and planar cell polarity signaling. USP6 and USP32 regulate distinct subcellular pools of Vangl by removing distinct ubiquitin modifications from Vangl proteins. This regulatory mechanism safeguards PCP‐dependent embryonic morphogenesis, while aberrant USP32‐dependent stabilization of VANGL ...
Fangzi Zha, Di Feng, Ziru Xue, Zhiying Liu, Xiaochen Lin, Zhe Wang, Ling Xu, Jasper Fuk Woo Chan, Martin Cheung, Michael Shing Yan Huen, Yusong Guo, Kui Ming Chan, Yun Liu, Bo Gao   +13 more
wiley   +1 more source

Fatal intracranial hemorrhage in a newborn with factor VII deficiency

The Turkish Journal of Pediatrics, 1996
Factor VII deficiency is a rare congenital coagulopathy. Prolonged prothrombin time with normal partial thromboplastin time indicates factor VII deficiency. For the definitive diagnosis, the specific factor VII level should be investigated.
R Uçsel, S Savaşan, A Coban, F Metin, G Can   +4 more
doaj  

Single‐Nucleus Atlas of Spinal Sarcopenia Patients Reveals Disruption of Quiescent and Regenerative Satellite Cell Niches in Fatty‐Infiltrated Muscle

Advanced Science, EarlyView.
Mechanisms of Fatty Infiltration and Muscle Degeneration. Clinical metadata identified intramuscular fat accumulation as an independent driver of muscle mass decline. Single‐nucleus RNA sequencing of spinal sarcopenia muscle revealed adipogenic reprogramming of fibro‐adipogenic progenitors, satellite‐cell niche disruption, and elevated levels of the ...
Wenkai Wu, Renxian Wang, Dingding Wang, Quanzhong Ren, Ling Wang, Fangfang Duan, Guihe Yang, Ruixuan Yu, Yi Wang, Yingyu Zhang, Zetong Zang, Chuqi Li, Weijia Liu, Wenshuang Zhang, Yi Yuan, Zitong Cheng, Xiaoguang Cheng, Junbo Liang, Yajun Liu   +18 more
wiley   +1 more source

Proteogenomic Profiling of Idiopathic Pulmonary Arterial Hypertension Identifies Sex‐Differential Proteins and Candidate Therapeutic Targets

Advanced Science, EarlyView.
An integrated proteogenomic analysis of 44,137 predominantly European‐ancestry UK Biobank participants aged 40–69 years identifies 12 robust proteins associated with idiopathic pulmonary arterial hypertension. These proteins define a high‐mortality molecular endotype, support early detection and mortality prediction, reveal sex‐differential proteomic ...
Xinjie Lin, Yangchang Zhang, Yang Pu, Duanke Liu, Tao Lei, Kai Ma, Qiyu He, Zheng Dou, Yuze Liu, Dengyuan Liu, Yinge He, Yanshang Wang, Xiaojiao Zheng, Yanbing Ma, Jianrong Zhou, Weiding Zhai, Binbin Su, Li Chen, Shoujun Li   +18 more
wiley   +1 more source

Newly diagnosed congenital factor VII deficiency and utilization of recombinant activated factor VII (NovoSeven®)

Clinical Pharmacology: Advances and Applications, 2013
Nicole S Bartosh, Tara Tomlin, Christian Cable, Kathleen HalkaDepartment of Internal Medicine, Division of Medical Oncology, Scott and White Healthcare and Texas A and M Health Science Center College of Medicine, Temple, TX, USAAbstract: This case report
Bartosh NS, Tomlin T, Cable C, Halka K
doaj  

The features of the mode of delivery in patients with congenital deficiency of coagulation factor VII: case reports

Сеченовский вестник, 2020
Congenital deficiency of clotting factor VII (FVII) — refers to rare hemorrhagic diatheses, for which no unified approaches to the management of pregnancy and childbirth have been developed.
A. Yu. Bulanov, S. E. Rabotinsky, E. L. Bulanova, I. B. Simarova, Т. S. Kotomina, I. Yu. Sizova   +5 more
doaj   +1 more source

CRISPR and Gene Augmentation Rescue Trabecular Meshwork Dysfunction in iPSC Models of Lowe Syndrome

Advanced Science, EarlyView.
By modeling Lowe syndrome using patient‐derived iPSCs, this study establishes a human disease model that faithfully recapitulates OCRL deficiency‐associated ciliary and cytoskeletal defects. The model enables evaluation of both mutation‐agnostic DNA augmentation and CRISPR‐mediated mutation correction strategies, both of which restore OCRL function and
Siyu Chen, Zhiquan Liu, Wenmin Wang, Qing Wang, Tia J. Kowal, Fan Zhang, Grzegorz Walkiewicz, Faruk Hossen, Herbert M. Lachman, Jinqiong Zhou, Yiting Wang, Yang Sun   +11 more
wiley   +1 more source

Congenital deficiency of factor VII in subarachnoid hemorrhage. [PDF]

Stroke, 1994
Factor VII is essential for coagulation activation by the extrinsic pathway. Hemorrhages of the central nervous system in patients with congenital factor VII deficiency seem to have a higher incidence compared with other congenital coagulopathies. The purpose of this paper is to report two rare cases of subarachnoid hemorrhage and factor VII deficiency.
M L, Papa, G, Schisano, A, Franco, P, Nina   +3 more
openaire   +2 more sources