Results 81 to 90 of about 11,049 (200)

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

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

Immunological aspects of congenital disorders of glycosylation (CDG): a review [PDF]

, 2016
Congenital disorders of glycosylation (CDG) are a rapidly growing family of genetic diseases comprising more than 85 known distinct disorders. They show a great phenotypic variability ranging from multi-organ/system to mono-organ/system involvement with ...
Dos Reis Ferreira, Vanessa, Videira, Paula A, Monticelli, Maria, Ferro, Tiago, Jaeken, Jaak   +4 more
core   +1 more source

GLYCOSYLATION DISORDER SYNDROME TYPE 1b: DIAGNOSTICS AND TREATMENT

Педиатрическая фармакология, 2008
The article highlights the medical case of a rare hereditary disease — glycosylation disorder syndrome type 1b, unique for our country. This syndrome is referred to the heterogeneous group of the congenital diseases characterized by the disorder of ...
Yu.S. Akoev, A.V. Migali, N.V. Zhurkova, O.B. Kondakova, E.A. Roslavtseva, A.R. Pinaeva, V.A. Skvortsova, I.I. Migali   +7 more
doaj   +2 more sources

The Close Relationship between the Golgi Trafficking Machinery and Protein Glycosylation

Cells, 2020
Glycosylation is the most common post-translational modification of proteins; it mediates their correct folding and stability, as well as their transport through the secretory transport.
Anna Frappaolo, Angela Karimpour-Ghahnavieh, Stefano Sechi, Maria Grazia Giansanti   +3 more
doaj   +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

Identifying Congenital Disorders of Glycosylation [PDF]

, 2021
Congenital Disorders of Glycosylation (CDG) constitute a diverse group of errors involved with protein glycosylation, a post-transcriptional modification that is essential for life.
Bowman, William, Hamby, Tyler, Gorrepati, Krishna   +2 more
core  

Disorders Mimicking Wilson’s Disease: Clinical, Biochemical, and Molecular Perspectives for Accurate Differential Diagnosis

Diagnostics
Wilson’s disease (WD) is an autosomal recessive disorder of copper metabolism caused by ATP7B mutations, characterized by hepatic copper accumulation and multisystem involvement. Several rare inherited and acquired conditions can closely mimic WD, posing
Agnieszka Antos, Grażyna Gromadzka, Jan Paweł Bembenek, Tomasz Litwin   +3 more
doaj   +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