Results 111 to 120 of about 90,078 (248)
Comparison of clinical and genetic characteristics between Dent disease 1 and Dent disease 2
Comparison of clinical and genetic characteristics between Dent disease 1 and Dent disease 2Background Dent disease is associated with low molecular weight proteinuria and hypercalciuria and caused by pathogenic variants in either of two genes: CLCN5(Dent disease 1) and OCRL(Dent disease 2). It is generally not accompanied by extrarenal manifestations and it is difficult to distinguish Dent disease 1 from Dent disease 2 without gene testing ...
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Testicular mRNA‐LNP Delivery: A Novel Therapy for Genetic Spermatogenic Disorders
Advanced Science, EarlyView.In the current study, we developed a novel therapy for genetic spermatogenic disorders. It was revealed that in vivo delivery of mRNA LNP3 could restore spermatogenesis in Msh5D486Y/D486Y and Maps KO mouse models with meiotic arrest. Notably, the offspring without genomic integration was born using ICSI derived from the rescue of Msh5D486Y/D486Y mouse ...
Chenwang Zhang +22 more
wiley +1 more source
PCSK9 inhibition in the management of hyperlipidemia: focus on evolocumab
Vascular Health and Risk Management, 2016 Dirk J Blom,1 Ricardo Dent,2 Rita C Castro,2 Peter P Toth3,4 1Division of Lipidology, Department of Medicine, University of Cape Town, Cape Town, South Africa; 2Amgen, Inc., Thousand Oaks, CA, 3Ciccarone Center for the Prevention of Cardiovascular ...
Blom DJ, Dent R, Castro RC, Toth PP
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A Focus on the Metabolic Dysfunction of Proximal Tubule Cells in Dent Disease Type 1
Dent disease type 1 is a rare inherited renal disorder affecting mainly young males, generally leading to end-stage renal failure and for which there is no cure. It is caused by inactivating mutations in the gene encoding ClC-5, a 2Cl-/H+ exchanger found on endosomes in the renal proximal tubule.
Elise de Combiens +2 more
openaire +1 more source
Promoting Treg Polarization‐Mediated Anti‐Scar and Appendage Regeneration in Wound Healing
Advanced Science, EarlyView.This study develops a PLGA@LA‐BMP4‐PG bilayer scaffold to address scar formation and appendage loss in skin repair. The piezoelectric PLA layer enhances cell migration via electric fields, while GelMA delivers LA promoting Tregs polarization and BMP4 inhibiting FBs differentiation.
Yiwen Yang +10 more
wiley +1 more source
RETREG1‐Mediated Reticulophagy is Essential for Dendritic Cell Maturation and Function in Sepsis
Advanced Science, EarlyView.Reticulophagy regulator 1 (RETREG1) maintains dendritic cell (DC) maturation and function in early sepsis. Mechanistically, activating transcription factor 6 (ATF6) acts as a direct transcription factor regulating RETREG1 expression in response to sepsis‐induced endoplasmic reticulum (ER) stress.
Ren‐Qi Yao +28 more
wiley +1 more source
Advanced Science, EarlyView.The study shows that noncardiac surgical inflammation rapidly disrupts HDL function and cholesterol efflux in mice and human patients. Impaired reverse cholesterol transport after surgery drives rapid lipid accumulation, NETosis, and apoptosis within atherosclerotic plaques.
Dominique M. Boucher +15 more
wiley +1 more source
Jornal brasileiro de nefrologia, 2012 Dent's disease type 1 is an X-linked tubular disease caused by mutations in the renal chloride channel CLCN-5, and it is characterized by low molecular weight proteinuria, hypercalciuria, nephrocalcinosis, and renal failure. Several cases have been described in which the only presenting symptoms were asymptomatic proteinuria, and focal segmental or ...
Maria Helena Vaisbich +5 more
openaire +2 more sources
Advanced Science, EarlyView.A self‐supporting, biocompatible, and biodegradable 3D cellulose scaffold has been developed for efficient isolation and in situ expansion of circulating tumor cells (CTCs) from patient blood. Subsequently, the 3D cellulose scaffold with cultured CTCs is directly implanted into immunodeficient mice for constructing patient CTC‐derived xenograft (CDX ...
Yi‐Ke Wang +9 more
wiley +1 more source
Pathogenic Role of FGFR3 Autoantibodies in Small Fiber Neuropathy
Advanced Science, EarlyView.Autoantibodies against fibroblast growth factor receptor 3 (FGFR3) are identified as pathogenic drivers of pain in small fiber neuropathy. By binding to sensory neurons in dorsal root ganglia, FGFR3 autoantibodies activate MAPK signaling and induce hyperexcitability and mechanical hypersensitivity, establishing FGFR3 autoantibodies as a therapeutic ...
Lyuba Y. Salih +12 more
wiley +1 more source