Results 41 to 50 of about 7,768 (132)

Analysis of Carbohydrates and Glycoconjugates by Matrix‐Assisted Laser Desorption/Ionization Mass Spectrometry: An Update for 2023–2024

Mass Spectrometry Reviews, EarlyView.
ABSTRACT The use of MALDI mass spectrometry for the analysis of carbohydrates and glycoconjugates is a well‐established technique and this comprehensive review is the twelfth update of the original article published in 1999 and brings coverage of the literature to the end of 2024.
David J. Harvey
wiley   +1 more source

SLC37A4-CDG: Mislocalization of the glucose-6-phosphate transporter to the Golgi causes a new congenital disorder of glycosylation

Molecular Genetics and Metabolism Reports, 2020
Loss-of-function of the glucose-6-phosphate transporter is caused by biallelic mutations in SLC37A4 and leads to glycogen storage disease Ib. Here we describe a second disease caused by a single dominant mutation in the same gene.
Thorsten Marquardt, Vladimir Bzduch, Max Hogrebe, Stephan Rust, Janine Reunert, Marianne Grüneberg, Julien Park, Nico Callewaert, Robin Lachmann, Yoshinao Wada, Thomas Engel   +10 more
doaj   +1 more source

Cytogenetic and Molecular Findings in Hydrops‐Related Mirror Syndrome

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Mirror syndrome is a rare, life‐threatening condition in which maternal fluid overload mirrors fetal hydrops. Data on genetic findings in affected pregnancies are limited. We compared genetic diagnoses in hydrops cases with and without mirror syndrome.
Brian A. Burnett, Christian M. Parobek, Jessian L. Munoz, Lauren E. Westerfield, Kristi Poling, Cara Buskmiller, Amir A. Shamshirsaz, Roopali V. Donepudi, Ignatia B. Van den Veyver, Magdalena Sanz Cortes, Michael A. Belfort, Ahmed A. Nassr   +11 more
wiley   +1 more source

Yeast Models of Phosphomannomutase 2 Deficiency, a Congenital Disorder of Glycosylation

G3: Genes, Genomes, Genetics, 2019
Phosphomannomutase 2 Deficiency (PMM2-CDG) is the most common monogenic congenital disorder of glycosylation (CDG) affecting at least 800 patients globally.
Jessica P. Lao, Nina DiPrimio, Madeleine Prangley, Feba S. Sam, Joshua D. Mast, Ethan O. Perlstein   +5 more
doaj   +1 more source

Retinal Degeneration Caused by Rod-Specific Dhdds Ablation Occurs without Concomitant Inhibition of Protein N-Glycosylation

iScience, 2020
Summary: Dehydrodolichyl diphosphate synthase (DHDDS) catalyzes the committed step in dolichol synthesis. Recessive mutations in DHDDS cause retinitis pigmentosa (RP59), resulting in blindness.
Sriganesh Ramachandra Rao, Lara A. Skelton, Fuguo Wu, Agnieszka Onysk, Grzegorz Spolnik, Witold Danikiewicz, Mark C. Butler, Delores A. Stacks, Liliana Surmacz, Xiuqian Mu, Ewa Swiezewska, Steven J. Pittler, Steven J. Fliesler   +12 more
doaj   +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

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

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

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