Results 81 to 90 of about 15,770 (195)

Vitreoretinal complications and surgical outcomes in patients with X‐linked retinoschisis

Acta Ophthalmologica, EarlyView.
Abstract Purpose X‐linked retinoschisis (XLRS) is an inherited vitreoretinal disorder characterized by macular retinoschisis. In a subgroup of patients, peripheral retinoschisis can occur, potentially leading to complications such as vitreous haemorrhage (VH) and retinal detachment (RD).
Jonathan Hensman, Leo C. Hahn, Mary J. van Schooneveld, Roselie M. H. Diederen, Filip van den Broeck, Jacoline B. Ten Brink, Alberta A. Thiadens, Maria M. van Genderen, L. Ingeborgh van den Born, Bart P. Leroy, Carel B. Hoyng, Camiel J. F. Boon   +11 more
wiley   +1 more source

Multimodal imaging in a pedigree of X-linked Retinoschisis with a novel RS1 variant

BMC Medical Genetics, 2018
Background To describe the clinical phenotype and genetic cause underlying the disease pathology in a pedigree (affected n = 9) with X-linked retinoschisis (XLRS1) due to a novel RS1 mutation and to assess suitability for novel therapies using multimodal
Kirk Stephenson, Adrian Dockery, Niamh Wynne, Matthew Carrigan, Paul Kenna, G. Jane Farrar, David Keegan   +6 more
doaj   +1 more source

Annotation-based feature extraction from sets of SBML models [PDF]

, 2015
Background: Model repositories such as BioModels Database provide computational models of biological systems for the scientific community. These models contain rich semantic annotations that link model entities to concepts in well-established bio ...
Dagmar Waltemath, Markus Wolfien, Olaf Wolkenhauer, Rebekka Alm, Ron Henkel   +4 more
core   +1 more source

Timed inhibition of CDC7 increases CRISPR-Cas9 mediated templated repair. [PDF]

, 2020
Repair of double strand DNA breaks (DSBs) can result in gene disruption or gene modification via homology directed repair (HDR) from donor DNA. Altering cellular responses to DSBs may rebalance editing outcomes towards HDR and away from other repair ...
A Ferreira, A Montagnoli, A Orthwein, AC Komor, B Roberts, B Verdoodt, C Anders, C Yu, CD Richardson, CD Richardson, D Szklarczyk, DW Huang, E Lingeman, ES Koltun, FK Zimmermann, H Ghezraoui, J Song, JA Doudna, JE Haber, JP Duxin, K Jayathilaka, K Nakanishi, K Okita, KJ Livak, L Lei, L Pessoa-Brandão, LA Gilbert, LN Brandão, M Cavazzana, M Lei, M Yamada, MA DeWitt, MD Canny, MD Rainey, MH Porteus, N Hustedt, N Zielke, NK Sasi, NR Pannunzio, R Ceccaldi, RC Alver, S Hughes, S Lin, SB Thyme, T Maruyama, T Takenaka, T Tsuji, TA Day, TL Roth, TS Nambiar, U Eichenlaub-Ritter, VT Chu, W Li, X Liang, Z Romero   +54 more
core   +1 more source

Carrier screening in the reproductive setting—Are there medical implications for the heterozygote?—A guide for clinicians

Pregnancy, Volume 2, Issue 3, May 2026.
Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld, Nicole Kasatkin, Bi Liu Yu, Milen Velinov, Justin S. Brandt, Elena Ashkinadze   +5 more
wiley   +1 more source

Soil pH: a key edaphic factor regulating distribution and functions of bacterial community along vertical soil profiles in red soil of pomelo orchard

BMC Microbiology, 2022
Background Soil microbes exist throughout the soil profile and those inhabiting topsoil (0–20 cm) are believed to play a key role in nutrients cycling. However, the majority of the soil microbiology studies have exclusively focused on the distribution of
Muhammad Atif Muneer, Wei Hou, Jian Li, Xiaoman Huang, Masood ur Rehman Kayani, Yuanyang Cai, Wenhao Yang, Liangquan Wu, Baoming Ji, Chaoyuan Zheng   +9 more
doaj   +1 more source

The dynamic switch mechanism that leads to activation of LRRK2 is embedded in the DFGψ motif in the kinase domain. [PDF]

, 2019
Leucine-rich repeat kinase 2 (LRRK2) is a large multidomain protein, and LRRK2 mutants are recognized risk factors for Parkinson's disease (PD). Although the precise mechanisms that control LRRK2 regulation and function are unclear, the importance of the
Boassa, Daniela, Ellisman, Mark H, Herberg, Friedrich W, Knape, Matthias J, Kornev, Alexandr P, Mumdey, Natascha, Schmidt, Sven H, Taylor, Susan S   +7 more
core  

CRISPR/Cas9-mediated homology-directed repair by ssODNs in zebrafish induces complex mutational patterns resulting from genomic integration of repair-template fragments [PDF]

, 2018
Targeted genome editing by CRISPR/Cas9 is extremely well fitted to generate gene disruptions, although precise sequence replacement by CRISPR/Cas9-mediated homology-directed repair (HDR) suffers from low efficiency, impeding its use for high-throughput ...
Boel, Annekatrien, Callewaert, Bert, Coucke, Paul, De Paepe, Anne, De Saffel, Hanna, Steyaert, Wouter, Willaert, Andy   +6 more
core   +2 more sources

Fuel Consumption and Emissions Reductions of Hybrid Electric Regional‐Haul Trucks Equipped with a High‐Pressure Direct Injection Natural Gas Engine in Real‐World Driving Conditions

Energy Technology, Volume 14, Issue 4, April 2026.
Integrating powertrain electrification with efficient engines using low‐carbon fuels like natural gas (NG) improves energy conversion efficiency and mitigates greenhouse gas (GHG) emissions in heavy‐duty (HD) trucks. High‐pressure direct injection (HPDI) NG engines, using less than 5% diesel (energy basis) as pilot fuel, offer diesel‐like efficiency ...
Sina Moghadasi, Navid Balazadeh‐Meresht, Gordon McTaggart‐Cowan, Mahdi Shahbakhti   +3 more
wiley   +1 more source

The D126G mutation contributes to the early-onset X-linked juvenile retinoschisis

Scientific Reports
X-linked juvenile retinoschisis (XLRS) is an inherited retinal disease caused by mutations in the RS1 gene, resulting in splitting of the retinal layers and visual disturbances.
Ragkit Suvannaboon, Aekkachai Tuekprakhon, Aulia Rahmi Pawestri, Phitchapa Pongpaksupasin, Adisak Trinavarat, La-ongsri Atchaneeyasakul   +5 more
doaj   +1 more source