Results 41 to 50 of about 1,045,094 (185)

A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts

Human Genome Variation, 2022
Here we report a consanguineous Pakistani family with multiple affected individuals with autosomal recessive congenital cataract (arCC). Exclusion analysis established linkage to chromosome 22q, and Sanger sequencing coupled with PCR-based chromosome ...
Bushra Irum, Firoz Kabir, Nadav Shoshany, Shahid Y. Khan, Bushra Rauf, Muhammad Asif Naeem, Tanveer A. Qaiser, Sheikh Riazuddin, J. Fielding Hejtmancik, S. Amer Riazuddin   +9 more
doaj   +1 more source

Multidimensional OMICs reveal ARID1A orchestrated control of DNA damage, splicing, and cell cycle in normal‐like and malignant urothelial cells

Molecular Oncology, EarlyView.
Loss of the frequently mutated chromatin remodeler ARID1A, a subunit of the SWI/SNF cBAF complex, results in less open chromatin, alternative splicing, and the failure to stop cells from progressing through the cell cycle after DNA damage in bladder (cancer) cells. Created in BioRender. Epigenetic regulators, such as the SWI/SNF complex, with important
Rebecca M. Schlösser, Florian Krumbach, Eyleen Corrales, Geoffroy Andrieux, Christian Preisinger, Franziska Liss, Alexandra Golzmann, Melanie Boerries, Kerstin Becker, Ruth Knüchel, Stefan Garczyk, Bernhard Lüscher   +11 more
wiley   +1 more source

P336: Resolving missing heritability by iterative multidisciplinary and organ-specific reanalysis

Genetics in Medicine Open, 2023
Ehsan Ullah, Bin Guan, Amelia Naik, Chelsea Bender, Ranya Al Rawi, Delphine Blain, Aime Agather, Laryssa Huryn, Wadih Zein, Catherine Cukras, Brian Brooks, Robert Hufnagel   +11 more
doaj   +1 more source

Ganoderma lucidum polysaccharide attenuates retinal ischemia-reperfusion injury by regulating microglial M1/M2 polarization, suppressing neuroinflammation and inhibiting JAK2/STAT3 pathway

Biochemistry and Biophysics Reports
Retinal ischemia-reperfusion (RIR) injury is implicated in the pathogenesis of numerous retinal degenerative disorders, resulting in visual impairment or even blindness in millions of individuals worldwide.
Guangyu Zhu, Yujie Liu, Shichun Luo, Chao Tang, Chunlin Zhao, Xuejing Lu   +5 more
doaj   +1 more source

Oxidative Stress in Genetic Cataract Formation

Antioxidants
Background: Cataracts are the leading cause of blindness worldwide, and age-related cataracts are the result of environmental insults that largely lead to oxidative stress imposed on a genetic background that determines susceptibility to these stresses ...
James Fielding Hejtmancik
doaj   +1 more source

VIOLA—A Multi-Purpose and Web-Based Visualization Tool for Neuronal-Network Simulation Output

Frontiers in Neuroinformatics, 2018
Neuronal network models and corresponding computer simulations are invaluable tools to aid the interpretation of the relationship between neuron properties, connectivity, and measured activity in cortical tissue.
Johanna Senk, Corto Carde, Corto Carde, Corto Carde, Espen Hagen, Espen Hagen, Torsten W. Kuhlen, Torsten W. Kuhlen, Markus Diesmann, Markus Diesmann, Markus Diesmann, Benjamin Weyers, Benjamin Weyers   +12 more
doaj   +1 more source

Transient change in the binocular visual function after femtosecond laser-assisted in situ keratomileusis for myopia patients

, 2023
Youming Zhou, Yunxuan Ou, Man Pan Chin, Zhao Dongfeng, Riping Zhang   +4 more
openalex   +1 more source

Frequency of cataract surgery and its impact on visual function—results from the German Gutenberg Health Study [PDF]

, 2020
Alexander K. Schuster, Stefan Nickels, Norbert Pfeiffer, Irene Schmidtmann, Philipp S. Wild, Thomas Münzel, Manfred E. Beutel, Karl J. Lackner, Urs Vossmerbaeumer   +8 more
openalex   +1 more source

OCT Intensity of the Region between Outer Retina Band 2 and Band 3 as a Biomarker for Retinal Degeneration and Therapy

Bioengineering
Optical coherence tomography (OCT) is widely used to probe retinal structure and function. This study investigated the outer retina band (ORB) pattern and reflective intensity for the region between bands 2 and 3 (Dip) in three mouse models of inherited ...
Yong Zeng, Shasha Gao, Yichao Li, Dario Marangoni, Tharindu De Silva, Wai T. Wong, Emily Y. Chew, Xun Sun, Tiansen Li, Paul A. Sieving, Haohua Qian   +10 more
doaj   +1 more source

Systematic bibliometric and visualized analysis of research hotspots and trends on the application of artificial intelligence in glaucoma from 2013 to 2022 [PDF]

International Journal of Ophthalmology
AIM: To conduct a bibliometric analysis of research on artificial intelligence (AI) in the field of glaucoma to gain a comprehensive understanding of the current state of research and identify potential new directions for future studies.
Chun Liu, Lu-Yao Wang, Ke-Yu Zhu, Chun-Meng Liu, Jun-Guo Duan   +4 more
doaj   +1 more source