Results 61 to 70 of about 21,356 (260)

A de novo variant of the COL3A1 gene: causality of vascular Ehlers-Danlos syndrome

Advances in Laboratory Medicine
To establish diagnosis of vascular Ehlers-Danlos syndrome (VEDS) through genetic testing. This syndrome is characterized by muscle and arterial ruptures and a tendency to easy brusing, thin skin with visible veins and acrogeric facial features that may ...
Gutiérrez Romero Estrella, Padilla Apuntate Nuria, Izquierdo Álvarez Silvia   +2 more
doaj   +1 more source

Recurrent pneumothorax and intrapulmonary cavitary lesions in a male patient with vascular Ehlers-Danlos syndrome and a novel missense mutation in the COL3A1 gene: a case report

BMC Pulmonary Medicine, 2020
Background Vascular Ehlers-Danlos syndrome (vEDS) is a rare autosomal dominant hereditary collagen disease caused by a defect or deficiency in the pro-α1 chain of type III procollagen encoded by the COL3A1 gene.
Tingting Wan, Jinyan Ye, Peiliang Wu, Mengshi Cheng, Baihong Jiang, Hailong Wang, Jianmin Li, Jun Ma, Liangxing Wang, Xiaoying Huang   +9 more
doaj   +1 more source

An RFLP associated with the human type III collagen gene (COL3A1)

Nucleic Acids Research, 1985
97182
Dalgleish, R., Woodhouse, M., Reeders, S.   +2 more
openaire   +4 more sources

Table_1_Case report: Characterization of a rare pathogenic variant associated with loss of COL3A1 expression in vascular Ehlers Danlos syndrome.pdf

, 2022
The vascular subtype of Ehlers Danlos Syndrome (vEDS) is a rare connective tissue disorder characterized by spontaneous arterial, bowel or organ rupture.
Ashikh Seethy (7382295), Janvie Manhas (690626), Shivanand Gamanagatti (13935549), Uma Kumar (4808583), Sudip Sen (690627), Lov Raj Lohani (13935546)   +5 more
core   +1 more source

Loss of LCN2 Function Ameliorates Glucocorticoid‐Induced Muscle Atrophy via Remodeling the Extracellular Matrix

Advanced Science, EarlyView.
Glucocorticoids transcriptionally activate LCN2 expression via GR nuclear translocation. Secreted LCN2 binds MMP9 to degrade skeletal muscle ECM collagen, blocks integrin‐mediated mechanotransduction, bidirectionally disrupts muscle protein homeostasis, and reveals a novel target for steroid‐induced muscle atrophy.
Hongwei Shi, Xiaojing Hao, Yi Yan, Fengyang Li, Yaru Zhang, Zixin Li, Wenjuan Xie, Jiayin Lu, Xiaomao Luo, Yanjun Dong, Haidong Wang, Juan Wang   +11 more
wiley   +1 more source

Reduced Expression of METTL3 Promotes Metastasis of Triple-Negative Breast Cancer by m6A Methylation-Mediated COL3A1 Up-Regulation

Frontiers in Oncology, 2020
The abnormal m6A modification caused by m6A modulators is a common feature of various tumors; however, little is known about which m6A modulator plays the most important role in triple-negative breast cancer (TNBC).
Yu Shi, Yu Shi, Yu Shi, Chunlei Zheng, Chunlei Zheng, Chunlei Zheng, Yue Jin, Yue Jin, Yue Jin, Bowen Bao, Bowen Bao, Bowen Bao, Duo Wang, Duo Wang, Duo Wang, Kezuo Hou, Kezuo Hou, Kezuo Hou, Jing Feng, Jing Feng, Jing Feng, Shiying Tang, Shiying Tang, Shiying Tang, Xiujuan Qu, Xiujuan Qu, Xiujuan Qu, Yunpeng Liu, Yunpeng Liu, Yunpeng Liu, Xiaofang Che, Xiaofang Che, Xiaofang Che, Yuee Teng, Yuee Teng, Yuee Teng   +35 more
doaj   +1 more source

Assessment of collagen content in Col3a1^+/G182R untreated mice (Picrosirius red staining).

, 2022
A Hemothorax in Col3a1+/G182R mice, white arrow shows the massive hemorrhage in the chest. B Histological staining (Hematoxylin) of the descending thoracic aorta of Col3a1+/G182R dead mice. White arrow shows the spontaneous aortic rupture and hemorrhage.
Irmine Loisel-Ferreira (12197672), Julie Faugeroux (160678), Carole Beugnon (12197666), Salma Adham (11793374), Charline Guery (515320), Anne Legrand (11793380), Xavier Jeunemaitre (75863), Juliette Hadchouel (160693), Erika Fontaine (12197663), Amélie Gianfermi (12197669), Marie-Christine Verpont (8358036), Tristan Mirault (541128)   +11 more
core   +1 more source

Engineered Cyanobacteria‐Hydrogel Microecological System for Oxygen Reprogramming Synergizes Immunomodulation With Anabolism in Osteoarthritis Therapy

Advanced Science, EarlyView.
An injectable cyanobacteria‐laden hydrogel enables light‐dependent oxygen metabolism engineering for osteoarthritis therapy. Photosynthetic oxygen release under red light irradiation suppresses synovial inflammation via HIF‐1α inhibition and M2 macrophage polarization, while respiratory oxygen consumption in darkness stabilizes chondrocyte HIF‐1α to ...
Lerong Yang, Chong Shen, Hongjun Huang, Siyi Liu, Zeyu Huang, Licheng Xi, Huan Cao, Li Zheng, Zainen Qin   +8 more
wiley   +1 more source

SerpinA3 is an Endogenous TGF‐β Receptor Antagonist that Attenuates Cardiac Fibroblast Activation and Fibrotic Remodeling

Advanced Science, EarlyView.
SerpinA3 acts as an endogenous TGF‐β receptor antagonist that binds to the extracellular domain of TGFR‐1, thereby preventing TGFR‐1–TGFR‐2 complex formation. This receptor‐level blockade suppresses TGF‐β/Smad2/3 signaling, attenuates cardiac fibroblast activation, and extracellular matrix deposition, and ultimately alleviates pressure overload–induced
Hui Wang, Jieyu Cui, Chunlu Huang, Wanyi Guo, Tong Liu, Yi Zhu, Shuai Shao, Kangyin Chen, Jinlong He, Qiankun Bao   +9 more
wiley   +1 more source

Variante no descrita previamente en el gen COL3A1: causalidad del Síndrome de Ehlers-Danlos tipo Vascular

Advances in Laboratory Medicine
Diagnosticar a través del estudio genético el Síndrome de Ehlers-Danlos de tipo Vascular (SEDV), caracterizado por roturas musculares y arteriales, así como tendencia a la formación de hematomas, piel fina con venas visibles y rasgos faciales acrogénicos
Gutiérrez Romero Estrella, Padilla Apuntate Nuria, Izquierdo Álvarez Silvia   +2 more
doaj   +1 more source