Results 81 to 90 of about 166,041,693 (206)

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

Clinical and Genetic Features of Congenital Disorders of Glycosylation Presenting with Hereditary Hemolytic Anemia and Prolonged Jaundice

Cerrahpaşa Medical Journal
Cite this article as: Solğun HA, Ozay M. Clinical and genetic features of congenital disorders of glycosylation presenting with hereditary hemolytic anemia and prolonged jaundice. Cerrahpaşa Med J. 2026, 50, 0104, doi: 10.5152/cjm.2026.25104.
Hüseyin Avni Solğun, Mustafa Ozay
doaj   +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

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

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

Congenital disorders of glycosylation with defective fucosylation

, 2021
Fucosylation is essential for intercellular and intracellular recognition, cell-cell interaction, fertilization, and inflammatory processes. Only five types of congenital disorders of glycosylation (CDG) related to an impaired fucosylation have been ...
Weigel, C., Lefeber, D. J., Kotlarz, D., Feichtinger, R. G., Frenz, S., Riedhammer, K. M., Thiel, C., Rennings, A., Wortmann, S. B., Huidekoper, H., Naumann-Bartsch, N., Herget, T., Khoshnevisan, R., Santer, R., Spenger, J., Momen, T., Mayr, J. A., Hullen, A., Schaefers, J., Falkenstein, K.   +19 more
core   +1 more source

A step closer in defining glycosylphosphatidylinositol anchored proteins role in health and glycosylation disorders

Molecular Genetics and Metabolism Reports, 2018
Glycosylphosphatidylinositol anchored proteins (GPI-APs) represent a class of soluble proteins attached to the external leaflet of the plasma membrane by a post-translation modification, the GPI anchor.
Emanuela Manea
doaj   +1 more source

hERG1 channels and potential therapeutics for long QT syndrome

The Journal of Physiology, EarlyView.
Abstract figure legend Prolonged QT results from hERG1 channel dysfunction. (A) Physiological anterograde trafficking of hERG1 channels to the plasma membrane, leading to a normal electrocardiogram. (B) Prolonged QT results from the presence of fewer hERG1 channels on the plasma membrane due to decreased anterograde trafficking or reduced function due ...
Elizabeth H. Schneider, Kelly A. Aromolaran, Michael C. Sanguinetti, Ademuyiwa S. Aromolaran   +3 more
wiley   +1 more source

AAV9-based PMM2 gene replacement augments PMM2 expression and improves glycosylation in primary fibroblasts of patients with phosphomannomutase 2 deficiency (PMM2-CDG)

Molecular Genetics and Metabolism Reports
Inherited deficiency of phosphomannomutase 2 (PMM2) (aka PMM2-CDG) is the most common congenital disorders of glycosylation (CDG) and has no cure.
M. Zhong, B. Balakrishnan, A.J. Guo, K. Lai   +3 more
doaj   +1 more source

Pragmatic Phenotype–Electrophysiology–Genomics Integration in Pediatric Congenital Myasthenic Syndromes: Insights From 36 Patients in a Single‐Center Study in China

CNS Neuroscience &Therapeutics, Volume 32, Issue 9, September 2026.
In 36 Chinese pediatric CMS patients, integrated phenotype, RNS, and genomic assessment revealed marked genetic heterogeneity across 17 CMS‐associated genes and frequent VUS‐related uncertainty. Genotype‐informed therapy improved MG‐ADL scores, while CHAT‐CMS identified a high‐risk subgroup for early respiratory failure and mortality.
Liya Cui, Kaiyue Ma, Xiaona Fu, Lin Ge, Bingbing Jia, Wenna Ma, Lei Yang, Zhimei Liu, Junlan Lv, Wenmiao Xu, Lijuan Wang, Guangyuan Zhao, Jiuwei Li, Jie Wu, Quan Wang, Changhong Ding, Xiaotun Ren, Xinming Shen, Hui Xiong   +18 more
wiley   +1 more source