Results 71 to 80 of about 56,617 (329)

Huge aneurysm of the ascending aorta in a patient with adult-type Pompe's disease: histological findings mimicking fibrillinopathy [PDF]

, 2017
Adult-type Pompe's disease (glycogen storage disease type II) has rarely been shown to present with dilatative arteriopathy, suggesting potential smooth muscle involvement in addition to lysosomal glycogen deposits usually restricted to skeletal muscle ...
Banz, Yara, Carrel, Thierry, Goeber, Volkhard, Kaeberich, Anja   +3 more
core  

Nerve damage induced skeletal muscle atrophy is associated with increased accumulation of intramuscular glucose and polyol pathway intermediates [PDF]

, 2020
Perturbations in skeletal muscle metabolism have been reported for a variety of neuromuscular diseases. However, the role of metabolism after constriction injury to a nerve and the associated muscle atrophy is unclear.
Afzal, Shoaib, Kempa, Stefan, Langer, Henning Tim, Spuler, Simone   +3 more
core   +2 more sources

ETV2 Mediated Differentiation of Human Pluripotent Stem Cells Results in Functional Endothelial Cells for Engineering Advanced Vascularized Microphysiological Models

Advanced Healthcare Materials, EarlyView.
A robust method to generate functional human iPSC‐derived endothelial cells using inducible ETV2 expression. These cells self‐organize into stable, lumenized microvascular networks within microfluidic chips, surpassing conventional differentiation methods.
Shun Zhang, Zhengpeng Wan, Lei Wang, Caihong Wu, Junkai Zhang, Sarah Spitz, Xun Wang, Marie A. Floryan, Mark F. Coughlin, Francesca M. Pramotton, Liling Xu, Ron Weiss, Roger D. Kamm   +12 more
wiley   +1 more source

Bottom‐Up Coacervate‐Based Artificial Cells: Integrating Cellular Hallmarks into Complex Life‐Like Systems

Angewandte Chemie, EarlyView.
Current interest in artificial cell research underscores its potential to deepen our understanding of life's fundamental processes. This review highlights advances in bottom‐up coacervate‐based artificial cell engineering via combined integration of cellular hallmarks.
Arjan Hazegh Nikroo, Angshuman Das, Madelief A. M. Verwiel, Jan C. M. van Hest   +3 more
wiley   +2 more sources

Glycogen Storage Disease Type II: Birth Prevalence Agrees with Predicted Genotype Frequency

Public Health Genomics, 1999
<i>Objectives:</i> To compare the overall birth prevalence of diagnosed glycogen storage disease type II (GSD II) with the predicted frequency based on mutation screening, in order to determine whether GSD II is an underdiagnosed condition, and to analyze which medical disciplines recognize GSD II.
Ausems, M.G.E.M., Berg, K. ten, Kroos, M.A., Diggelen, O.P. van, Wevers, R.A., Poorthuis, B.J.H.M., Niezen-Koning, K.E., Ploeg, A.T. van der, Beemer, F.A., Reuser, A.J.J., Sandkuijl, L.A., Wokke, J.H.J.   +11 more
openaire   +6 more sources

Designed Liquid Crystalline Nanoassemblies From Clinically Validated Polyunsaturated Lipids for Combined Antioxidant, Anti‐Apoptotic, and Neurotrophic Treatments

Advanced Healthcare Materials, EarlyView.
Ionizable lipid nanoparticles target multiple pathological pathways in neurodegeneration. The designed self‐assembled materials undergo a pH‐triggered structural transformation from a cubosome/hexosome coexistence to a hexosome phase, enhancing intracellular delivery of a multi‐target phytochemical formulation. The antioxidant‐loaded pH‐responsive LNPs
Thelma Akanchise, Fucen Luo, Borislav Angelov, Yuru Deng, Angelina Angelova   +4 more
wiley   +1 more source

Pregnancies and associated events in women receiving Enzyme Replacement Therapy for late onset Glycogen Storage Disease Type II (Pompe disease) [PDF]

, 2016
AIM: Glycogen storage disease type II (GSD II or Pompe disease; OMIM; 232 300) is a rare autosomal recessive lysosomal storage disorder resulting from deficiency of α-glucosidase and accumulation of glycogen in muscle.
Hughes, DA, Ramaswami, U, Richfield, L, Rohman, PJ, Scott, E   +4 more
core  

Gut Lactate Boosts Ruminococcus via Histone Lactylation to Mediate Time‐Restricted Feeding Protection in Crohn's Disease

Advanced Science, EarlyView.
TRF enriches Ruminococcus, a bacterial genus producing SCFAs, and activates the epithelial HIF‐1α signaling pathway. This mechanism protects the colonic mucosa from inflammatory insults in colitis models. Mechanistically, gut lactate production during starvation and refeeding mediates H4K12la, which increases SLC9A3 expression and creates an acidic gut
Linwen Huang, Huishi Tan, Senhui Weng, Yuntao Liu, Lingxu Song, Shaoyu Cheng, Zelong Lin, Jiawei Chen, Fei Tan, Jun Wang, Jinke Huang, Linkun Cai, Jiwei Chai, Cailing Zhong, Yanqiang Shi, Wendi Zhang, Haiyan Zhang, Chongyang Huang   +17 more
wiley   +1 more source

Integrating Spatial Proteogenomics in Cancer Research

Advanced Science, EarlyView.
Xx xx. ABSTRACT Background: Spatial proteogenomics marks a paradigm shift in oncology by integrating molecular analysis with spatial information from both spatial proteomics and other data modalities (e.g., spatial transcriptomics), thereby unveiling tumor heterogeneity and dynamic changes in the microenvironment.
Yida Wang, Yang Wu, Feng Zhang, Parthiban Periasamy, Haiyue You, Denise Goh, Rachel Elizabeth Ann Fincham, Xin Ning, Danping Wu, Lu Liu, Ying Jiang, Zhiwen Qian, Joe Yeong, Yan Zhang   +13 more
wiley   +1 more source

Perinatal Gene Transfer to the Liver [PDF]

, 2011
The liver acts as a host to many functions hence raising the possibility that any one may be compromised by a single gene defect. Inherited or de novo mutations in these genes may result in relatively mild diseases or be so devastating that death within
Buckley, SM, Chan, JK, Howe, SJ, McKay, TR, Rahim, AA, Waddington, SN, Ward, NJ   +6 more
core   +1 more source