Results 51 to 60 of about 7,542 (179)

Progress in bone tissue engineering biomaterials: Development, challenges, and prospects

VIEW, EarlyView.
Scheme 1 Application of biomaterials in immunomodulation during bone tissue engineering. Abstract Bone defect repair remains a major clinical challenge in orthopedics. Over 2 million cases caused by trauma, tumors, and other factors occur annually, with large‐scale defects posing a particular bottleneck due to limited self‐healing capacity.
Yuanbin Zhang, Junlei Chai, Quanwei Ding, Luping Liu, Kejie Zhang, Jie Lin, Jianhua Zhang, Youju Huang   +7 more
wiley   +1 more source

Identification of Two Novel Mutations in COG5 Causing Congenital Disorder of Glycosylation

Frontiers in Genetics, 2020
ObjectiveThis study reports a Chinese patient with a Congenital Disorder of Glycosylation (CDG) caused by compound-heterozygous mutations in the Conserved Oligomeric Golgi 5 (COG5) gene and thereby offers concrete evidence for early diagnosis.MethodsThe ...
Xi Wang, Lin Han, Xiao-Yan Wang, Jian-Hong Wang, Xiao-Meng Li, Chun-Hua Jin, Lin Wang   +6 more
doaj   +1 more source

First National Expanded Genomic Newborn Screening Program in Qatar; A Pilot Study, Doha‐Heidelberg Collaboration

American Journal of Medical Genetics Part A, EarlyView.
Reem Alsulaiman, Sarah Okashah, Radja Messai Badji, Fatemeh Abbaszadeh, Yaser Alsarraj, Rehab Ali Abdulrahman, Noora Shahbeck, Thalib Moideen, Reema El Hassan, Fatima Al‐Hamaydeh, Einas Alkuwari, Said Ismail, Hilal Al‐ Rifai, Ghassan Abdoh, Christian P. Schaaf, Georg Hoffmann, Saad Al‐Kaabi, Wadha Al‐Muftah, Tawfeg Ben‐Omran   +18 more
wiley   +1 more source

ER proteostasis meets mitochondrial function: contact sites as hubs of communication and therapeutic targets

The FEBS Journal, EarlyView.
Proteostasis ensures proper protein folding, modification, and degradation, while its impairment triggers ER stress. Chronic ER stress and maladaptive UPR via the CHOP–ERO1 axis remodel ERMCs, altering calcium signaling and mitochondrial metabolism.
Giorgia Maria Renna, Alessandro Cherubini, Ersilia Varone, Serena Germani, Alice Marrazza, Ester Zito   +5 more
wiley   +1 more source

Porphyromonas gingivalis GroEL accelerates abdominal aortic aneurysm formation by matrix metalloproteinase‐2 SUMOylation in vascular smooth muscle cells: A novel finding for the activation of MMP‐2

Molecular Oral Microbiology, EarlyView.
Abstract Infection is a known cause of abdominal aortic aneurysm (AAA), and matrix metalloproteases‐2 (MMP‐2) secreted by vascular smooth muscle cells (SMCs) plays a key role in the structural disruption of the middle layer of the arteries during AAA progression.
Yi‐Wen Lin, Feng‐Yen Lin, Ze‐Hao Lai, Chien‐Sung Tsai, Yi‐Ting Tsai, Yen‐Sung Huang, Chen‐Wei Liu   +6 more
wiley   +1 more source

Glucocorticoids modulate drug transporter function in human fetal brain endothelial cells

The Journal of Physiology, EarlyView.
Abstract figure legend P‐glycoprotein and breast cancer resistance protein are the most prominent drug transporters at the fetal blood–brain barrier. We isolated primary human fetal brain endothelial cells from early and mid‐gestation cerebral microvessels and exposed them to glucocorticoids cortisol and dexamethasone in vitro.
Nikola Ivanovski, Phetcharawan Lye, Enrrico Bloise, Stephen G. Matthews   +3 more
wiley   +1 more source

Caenorhabditis elegans as an in vivo model system for human inherited primary arrhythmia syndromes

The Journal of Physiology, EarlyView.
Abstract figure legend Most genes involved in inherited primary arrhythmia syndromes (IPAS) are conserved in Caenorhabditis elegans, where genetic manipulation enables functional characterization of variants, identification of regulatory proteins, and in vivo drug testing.
Antoine Delinière, Thomas Boulin, Maëlle Jospin, Alexandre Janin, Gilles Millat, Philippe Chevalier, Olga Andrini   +6 more
wiley   +1 more source

A Case Report of Cantu Syndrome Highlighting the Importance of Genetic Sequencing in Addition to Radiological Testing [PDF]

Journal of Clinical and Diagnostic Research
An infant initially suspected to have glutaric aciduria was later diagnosed with Cantu syndrome and found to be a carrier of Congenital Disorder of Glycosylation Type 1j.
Sriranjani Srinivasan, Revathi Nachiappan, Sivakumar Krishnaswamy Vijayaramanujam, Jayakumar Muthaiyan   +3 more
doaj   +1 more source

Coordinated regulation of PIEZO2 by alternative splicing, post‐translational modification, membrane trafficking and protein partners

The Journal of Physiology, EarlyView.
Abstract figure legend Regulatory mechanisms such as alternative splicing, post‐translational modification, membrane trafficking, and protein interactions control channel gating, membrane abundance, and overall activity of PIEZO2. Proper regulation supports PIEZO2‐dependent proprioceptive, somatosensory, nociceptive, pruriceptive and interoceptive ...
Eunice I. Oribamise, Qinglu Li, Mary G. Garry   +2 more
wiley   +1 more source

Glycosphingolipid synthesis is impaired in SLC35A2-CDG and improves with galactose supplementation

Cellular and Molecular Life Sciences
SLC35A2-CDG is an X-linked congenital disorder of glycosylation (CDG), characterized by defective UDP-galactose transport into the Golgi and endoplasmic reticulum and consequent insufficient galactosylation of glycans.
Andrea Jáñez Pedrayes, Sam De Craemer, Jakub Idkowiak, Dries Verdegem, Christian Thiel, Rita Barone, Mercedes Serrano, Tomáš Honzík, Eva Morava, Pieter Vermeersch, François Foulquier, Willy Morelle, Johannes V. Swinnen, Daisy Rymen, David Cassiman, Bart Ghesquière, Peter Witters   +16 more
doaj   +1 more source