Results 31 to 40 of about 71,358 (215)

Unraveling 4‐Phenylbutyrate's Therapeutic Role in SLC6A1 Disorders: Pharmacochaperoning Over HDAC Inhibition

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Variants in SLC6A1, encoding the GABA transporter 1 (GAT‐1), cause epilepsy, autism spectrum disorder, and developmental delay via loss of GABA uptake, impaired trafficking, and ER retention. We previously found that 4‐Phenylbutyrate (PBA), an FDA‐approved drug, restores GABA uptake and reduces seizures in SLC6A1‐related disorders ...
Melissa B. DeLeeuw, Karishma Randhave, Ekta Anand, Ziang (Debbie) Song, Wangzhen Shen, Jing‐Qiong Kang   +5 more
wiley   +1 more source

Prioritized polycystic kidney disease drug targets and repurposing candidates from pre-cystic and cystic mouse Pkd2 model gene expression reversion

Molecular Medicine, 2023
Background Autosomal dominant polycystic kidney disease (ADPKD) is one of the most prevalent monogenic human diseases. It is mostly caused by pathogenic variants in PKD1 or PKD2 genes that encode interacting transmembrane proteins polycystin-1 (PC1) and ...
Elizabeth J. Wilk, Timothy C. Howton, Jennifer L. Fisher, Vishal H. Oza, Ryan T. Brownlee, Kasi C. McPherson, Hannah L. Cleary, Bradley K. Yoder, James F. George, Michal Mrug, Brittany N. Lasseigne   +10 more
doaj   +1 more source

Microfluidic Nano‐Assembly of Red‐Blood‐Cell (RBC) Lipids and Components for Engineering Extracellular Vesicles

Advanced Healthcare Materials, EarlyView.
Engineered red blood cell‐derived extracellular vesicles (eRBCEVs) are synthesized via controlled microfluidic assembly from native RBC lipids, enabling tunable encapsulation of proteins, nucleic acids, nanoparticles, and viral vectors. The platform demonstrates reproducible nanoscale architecture, preserved membrane composition, and functional cargo ...
Chiranth K. Nagaraj, Xilal Y. Rima, Kim T. Nguyen, Courtney Culkins, Nana Boateng, Jacob Doon‐Ralls, Alejandro Bresolin, Xin Huang, Hong Li, Vahedi Amid, Ajeet Pal Singh, Dharti Shantaram, Anastasiia Amari, Mangesh D. Hade, Nicholas R. Merriam, Zachary D. Schultz, Scott Q. Harper, Nizar Y. Saad, Setty M. Magaña, Willa A. Hsueh, Rachel E. Kopec, Blaise R. Kimmel, Andre F. Palmer, Eduardo Reátegui   +23 more
wiley   +1 more source

CystAnalyser: A new software tool for the automatic detection and quantification of cysts in Polycystic Kidney and Liver Disease, and other cystic disorders.

PLoS Computational Biology, 2020
The Polycystic Kidney Disease (PKD) is characterized by progressive renal cyst development and other extrarenal manifestation including Polycystic Liver Disease (PLD).
Adrián Cordido, Eva Cernadas, Manuel Fernández-Delgado, Miguel A García-González   +3 more
doaj   +1 more source

The Interplay of Curvature, Geometry, and Topology Shapes Tissue Organisation in Epithelial Shells

Advanced Science, EarlyView.
Purely geometric 3D Voronoi models predict the organisation of epithelial shells. The interplay of curvature, geometry, and topology enriches the number of pentagons in shells with lower number of cells. Small MDCK cysts and Mouse embryos match the top polygonal configurations in a compactness‐based ranking derived from the Voronoi model. In conclusion,
Laura Morato, Jesús A. Andrés‐San Román, Juan Garrido‐García, Carmen Gordillo‐Vázquez, Ana M. Palacios, Elisabeth Lidueña‐Fernández, Katie McDole, Pedro Gómez‐Gálvez, Valentina Annese, Luis M. Escudero   +9 more
wiley   +1 more source

Liesegang rings in the setting of end‐stage renal disease

IJU Case Reports, 2022
Introduction Liesegang rings are acellular, lamellar, concentric rings of organic or inorganic material naturally formed in both biologic and environmental systems. Description in human tissue is scarce.
Alexander R Gross, Shahrier Amin, Tomislav Jelic   +2 more
doaj   +1 more source

A rare association between crossed fused renal ectopia, urethral stricture, bilateral cryptorchidism, and sub-coronal hypospadias in a non-syndromic 6-year-old child

Journal of Pediatric Surgery Case Reports, 2023
Introduction: From asymptomatic ectopic kidneys to potentially fatal renal agenesis, congenital abnormalities of the kidney and urinary tract (CAKUT) encompass a wide variety of anomalies (bilateral).
Oadi N. Shrateh, Afnan W.M. Jobran, Saja Jaber, Ahmad Kahla, Mohammad Shker, Wael Abu Arafeh   +5 more
doaj   +1 more source

Endowing Flexibility of Alveolar Type II Cells to Recapitulate Development From Lung Bud to Alveoli

Advanced Science, EarlyView.
Adult human alveolar type 2 cells are chemically reprogrammed into expandable alveolar progenitor‐like cells that acquire bud tip‐like features during expansion and form organoids that mature into alveolar‐like structures. These organoids model influenza A virus infection and innate immune responses in vitro, while transplanted cells engraft ...
Hongqian Ma, Yuxin Zhang, Lujia Sun, Hong Jiang, Fan Li, Wenming Liu, Shenao Zhou, Mengting Wang, Weijian Huang, Xu Zhou, Caiyang Chen, Qiuqiu Zhang, Xiaoyan Jin, Feihan Yan, Hongping Wu, Yonghong Yin, Xinling Wang, Hexin Yan, Weifeng Yu   +18 more
wiley   +1 more source

Current status and prospects of diagnosis and treatment of genetic kidney diseases in Chinese children [PDF]

Zhenduanxue lilun yu shijian
Genetic kidney diseases refer to a broad category of renal disorders associated with genetic etiologies. They are the leading cause of end-stage kidney disease in children and adolescents，accounting for over 25% of pediatric patients requiring renal ...
SHEN Qian
doaj   +1 more source

Ciliary Membrane Lipid Homeostasis in Health and Disease

Advanced Science, EarlyView.
This review systematically delineates the distinct lipid landscapes of ciliary membranes, including the spatial organization of phosphoinositides, cholesterol, and sphingolipids. It elucidates how these lipids orchestrate ciliogenesis, signal transduction, and membrane dynamics in cilia beating, and highlights how their dysregulation drives ...
Zhenzhou Huang, Yuan‐yuan Liu, Hanqi Sun, Peiwei Liu   +3 more
wiley   +1 more source