Results 31 to 40 of about 835,919 (314)

Antisense Oligonucleotide-based Splice Correction for USH2A-associated Retinal Degeneration Caused by a Frequent Deep-intronic Mutation

Molecular Therapy: Nucleic Acids, 2016
Usher syndrome (USH) is the most common cause of combined deaf-blindness in man. The hearing loss can be partly compensated by providing patients with hearing aids or cochlear implants, but the loss of vision is currently untreatable.
Radulfus WN Slijkerman, Christel Vaché, Margo Dona, Gema García-García, Mireille Claustres, Lisette Hetterschijt, Theo A Peters, Bas P Hartel, Ronald JE Pennings, José M Millan, Elena Aller, Alejandro Garanto, Rob WJ Collin, Hannie Kremer, Anne-Françoise Roux, Erwin Van Wijk   +15 more
doaj   +1 more source

Insights into PI3K/AKT signaling in B cell development and chronic lymphocytic leukemia

FEBS Letters, EarlyView.
This Review explores how the phosphoinositide 3‐kinase and protein kinase B pathway shapes B cell development and drives chronic lymphocytic leukemia, a common blood cancer. It examines how signaling levels affect disease progression, addresses treatment challenges, and introduces novel experimental strategies to improve therapies and patient outcomes.
Maike Buchner
wiley   +1 more source

The cytoskeletal control of B cell receptor and integrin signaling in normal B cells and chronic lymphocytic leukemia

FEBS Letters, EarlyView.
In lymphoid organs, antigen recognition and B cell receptor signaling rely on integrins and the cytoskeleton. Integrins act as mechanoreceptors, couple B cell receptor activation to cytoskeletal remodeling, and support immune synapse formation as well as antigen extraction.
Abhishek Pethe, Tanja Nicole Hartmann
wiley   +1 more source

Fetal genetic findings by chromosomal microarray analysis and karyotyping for fetal growth restriction without structural malformations at a territory referral center: 10-year experience

BMC Pregnancy and Childbirth, 2023
Background Prenatal invasive genetic testing is commonly recommended to pregnancies of early-onset FGR or FGR combined with a structural defect. Our study aimed to explore the genetic findings for FGR without structural malformations according to ...
Xiaoqing Wu, Shuqiong He, Ying Li, Danhua Guo, Xuemei Chen, Bin Liang, Meiying Wang, Hailong Huang, Liangpu Xu   +8 more
doaj   +1 more source

Advances in cell transplantation therapy and gene therapy in Parkinson's disease

Chinese Journal of Contemporary Neurology and Neurosurgery, 2022
The role of cell transplantation therapy and gene therapy in the treatment of Parkinson's disease (PD) has attracted more and more attention. It has developed from laboratory research tools to clinical products for patients.
XU Bao⁃lei, CHAN Piu
doaj   +1 more source

Male Infertility: Genetics, Mechanism, and Therapies [PDF]

BioMed Research International, 2016
The World Health Organization declaimed that infertility is a major global public health issue of the last few decades. Infertility is commonly defined as the failure to conceive after 1 year of unprotected intercourse and is estimated to concern 72.4 million people worldwide with 40.5 million currently seeking medical care.
Coutton, Charles, Fissore, Rafael, Palermo, Gianpiero, Stouffs, Katrien, Touré, Aminata   +4 more
openaire   +3 more sources

Interaction vesicles as emerging mediators of host‐pathogen molecular crosstalk and their implications for infection dynamics

FEBS Letters, EarlyView.
Interaction extracellular vesicles (iEVs) are hybrid vesicles formed through host‐pathogen communication. They facilitate immune evasion, transfer pathogens' molecules, increase host cell uptake, and enhance virulence. This Perspective article illustrates the multifunctional roles of iEVs and highlights their emerging relevance in infection dynamics ...
Bruna Sabatke, Izadora Volpato Rossi, Marcel I. Ramirez   +2 more
wiley   +1 more source

Long-term reestablishment of alpha-L-iduronidase activity in MPS I fibroblasts after non-viral gene transfer

Clinical and Biomedical Research, 2017
Mucopolysaccharidosis type I (MPS I) is a lysosomal storage disorder due to deficiency of alpha-L-iduronidase (IDUA). Limitations such as need of weekly injection, high morbidity and mortality  and high cost of the current treatments show the need for ...
Fabiano de Oliveira Poswar, Fabiana Quoos Mayer, Maira Graeff Burin, Ursula da Silveira Matte, Roberto Giugliani, Guilherme Baldo   +5 more
doaj   +2 more sources

GMP-manufactured CRISPR/Cas9 technology as an advantageous tool to support cancer immunotherapy

Journal of Experimental & Clinical Cancer Research
Background CRISPR/Cas9 system to treat human-related diseases has achieved significant results and, even if its potential application in cancer research is improving, the application of this approach in clinical practice is still a nascent technology ...
M Caforio, S Iacovelli, C Quintarelli, F Locatelli, Valentina Folgiero   +4 more
doaj   +1 more source

Decoding the dual role of autophagy in cancer through transcriptional and epigenetic regulation

FEBS Letters, EarlyView.
Transcriptional and epigenetic regulation controls autophagy, which exerts context‐dependent effects on cancer: Autophagy suppresses tumorigenesis by maintaining cellular homeostasis or promotes tumor progression by supporting survival under stress. In this “In a Nutshell” article, we explore the intricate mechanisms of the dual function of autophagy ...
Young Suk Yu, Ik Soo Kim, Sung Hee Baek
wiley   +1 more source