Results 71 to 80 of about 104,643 (290)

Coincident onset of multiple sclerosis and herpes simplex virus 1 encephalitis. a case report [PDF]

, 2017
Background: Along with vitamin D, smoking, body mass index and others, Epstein Barr virus, other herpesviruses and human endogenous retroviruses represent plausible environmental risk factors for multiple sclerosis.
Buscarinu, M. C., Ferraldeschi, Michela, Fornasiero, Arianna, Renie', Roberta, Ristori, Giovanni, Romano, Silvia, Salvetti, Marco, Trasimeni, Guido   +7 more
core   +2 more sources

Tim1 Deficiency Mediates Gestational Hyperglycemia‐Related Syncytiotrophoblast Dysfunction and Fetal Growth Restriction

Advanced Science, EarlyView.
Hyperglycemia during pregnancy impairs the fusion of trophoblast cells into syncytiotrophoblasts, leading to fetal growth restriction. This impaired fusion is mediated by Tim1 downregulation via hyperglycemia‐induced ROS. Antioxidant therapy during pregnancy promotes syncytiotrophoblast formation by upregulating Tim1 expression, thus alleviating fetal ...
Junsen She, Rui Liu, Chen Fang, Shuyu Zhang, Yizhi Hu, Fei Guo, Yuhang Long, Mengzhen Ding, Haiyan Wu, Bokang Zhou, Zexin Yang, Ying Jiang, Jianzhong Sheng, Ling Gao, Hefeng Huang   +14 more
wiley   +1 more source

Event-based real-life outcomes of patients with non-neuronopathic Gaucher disease receiving ert

Orphanet Journal of Rare Diseases
Background Gaucher Disease (GD) is a lysosomal storage disorder. Mutations in the GBA1 gene cause glucocerebrosidase enzyme deficiency that leads to the accumulation of its substrates.
Ayşe Akyüz, Aslı İnci, İlyas Okur, Leyla Tümer, Fatih Süheyl Ezgü   +4 more
doaj   +1 more source

Identification of the iduronate-2-sulfatase proteome in wild-type mouse brain

Heliyon, 2019
Iduronate-2-sulfatase (IDS) is a lysosomal enzyme involved in the metabolism of the glycosaminoglycans heparan (HS) and dermatan (DS) sulfate. Mutations on IDS gene produce mucopolysaccharidosis II (MPS II), characterized by the lysosomal accumulation of
Carolina Cardona, Eliana Benincore, Natalia Pimentel, Luis H. Reyes, Camilo Patarroyo, Alexander Rodríguez-López, M. Martin-Rufian, Luis Alejandro Barrera, Carlos J. Alméciga-Díaz   +8 more
doaj   +1 more source

Aesthetic restoration in maxillo-mandibular malformations: the role of genioplasty [PDF]

, 2015
Aim: The aim of this study was to determinate how orthognatic surgery aids to cure many skull and face abnormalities and to help re-establishing the correct occlusive relation thanks to the repositioning of the maxillo-mandibular skeleton basis. Methods:
Agrillo, Alessandro, Filiaci, Fabio, Mitro, Valeria, Reale, Gabriele, Riccardi, Emiliano, Rinna, Claudio, Ungari, Claudio   +6 more
core   +1 more source

Integrated Single‐Cell and Spatial Transcriptomics Reveal Cell‐Type‐Specific Immune Regulatory Networks in Maize Responding to Southern Corn Rust

Advanced Science, EarlyView.
By integrating single‐nuclei and spatial transcriptomics, this study presents a stereoscopic landscape of maize leaf to Puccinia polysora infection. Epidermal and mesophyll cells initiate primary defenses via RLPs/RLKs and jasmonic acid signaling. Cell‐cell communication analyses further reveal the underlying the dynamics of the underlying immune ...
Qiongqiong Wang, Xinyan Sun, Yingchao Sun, Zeqiang Cheng, Zixiang Cheng, Shengbo Han, Ying Feng, Wenbo Yang, Huimin Li, Meichen Zhu, Xiaoling Wu, Jinghua Zhang, Jihua Tang, Honglian Li, Yanyong Cao, Canxing Duan, Yan Shi   +16 more
wiley   +1 more source

DCAF13 Safeguards Hematopoietic Stem Cells via RRS1‐Regulated Ribosome Biogenesis

Advanced Science, EarlyView.
This study establishes DCAF13 as an essential regulator for hematopoietic stem cell (HSC) function. Its deletion in mice causes lethal pancytopenia and HSC depletion. Mechanistically, DCAF13 interacts with RRS1 and mediates its non‐degradative K27‐linked ubiquitination, thereby stabilizing RRS1 to maintain ribosome biogenesis and protein translation ...
Mengke Li, Yuxin Wu, Shuai Zhou, Peipei Tang, Jiaming Wei, Ling Liu, Zhenyi Wang, Deyang Shi, Shengnan Yuan, Qingyu Zhang, Shihui Wang, Qing Zhang, Huan Zhao, Rui Zhang, Yingying Wang, Shiwei Yang, Xiangli Chen, Xiaojing Shi, Guangzhi Liu, Yuwei Zhang, Jinming Li, Xu Dong Zhang, Rick F Thorne, Dongping Wei, Zumin Zhu, Song Chen   +25 more
wiley   +1 more source

Immunization coverage and timeliness of vaccination in young patients with inborn errors of metabolism: a French multicentric study

Orphanet Journal of Rare Diseases
Background Inborn errors of metabolism (IEMs) are rare disorders that are heterogeneous in severity and clinical presentation. Patients with IEMs should receive the vaccination schedule recommended for the whole population, and specific vaccinations ...
Anne-Sophie Renous, Lena Damaj, Magali Gorce, Magalie Barth, Antoine Bedu, Elise Sacaze, Delphine Lamireau, Cécile Laroche-Raynaud, Laurent Pasquier, Zoha Maakaroun-Vermesse, Marine Tardieu, François Labarthe   +11 more
doaj   +1 more source

Conformable Microelectrode Arrays Integrated with a Scoop‐Shaped Slide‐Well for Dynamic Electrophysiological Profiling of Patient‐Derived Cardiac Organoids

Advanced Science, EarlyView.
A flexible, ultrathin multi‐channel microelectrode array (MEA) conformally integrated onto a curved slide‐well enables stable electrical interfacing with 3D cardiac organoids. The geometry‐guided self‐alignment allows simultaneous recording of extracellular field potentials and contractile motion from irregular, beating tissues.
Ye Seul Kim, Jeonghwa Jeong, Gyeonghwa Heo, Young Woo Kwon, Jeongha Lee, Yoon Ji Jeong, Gyu Tae Park, Seongdo Jeong, Ki Won Hwang, Murim Choi, Jinhong Shin, Suck Won Hong, Jae Ho Kim   +12 more
wiley   +1 more source

Orthotopic liver transplantation for urea cycle enzyme deficiency [PDF]

, 1992
Hyperammonemia, abnormalities in plasma amino acids and abnormalities of standard liver functions were corrected by orthotopic liver transplantation in a 14‐day‐old boy with carbamyl phosphate synthetase‐I deficiency and in a 35‐yr‐old man with ...
Bachmann, Broelsch, Brusilow, Brusiow, Featherston, Green, Largilliere, Moore, Nuzum, Roth, Saheki, Starzl, Starzl, Voorhies, Windmueller, Wood, Wood   +16 more
core   +1 more source