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Specialty: Molecular Biology
Nutrition: Vitamin A

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Total 1881 results found since Jan 2013.

Biomarkers for Nonexudative Age-Related Macular Degeneration and Relevance for Clinical Trials: A Systematic Review
ConclusionThis systematic review supports the use of structural and functional biomarkers in early AMD and intermediate AMD, which are more reproducible and less invasive than the other classes of biomarkers described. The use of deep learning and combinational algorithms will gain increasing importance in future clinical trials of nonexudative AMD.
Source: Molecular Diagnosis and Therapy - August 25, 2021 Category: Molecular Biology Source Type: research

A rat model for retinitis pigmentosa with rapid retinal degeneration enables drug evaluation in vivo
CONCLUSIONS: In this RP model, the time to onset of retinal degeneration was less than that of previously reported RP models with other rhodopsin mutations, enabling quicker in vivo evaluation of drug efficacy. Administration of rapamycin delayed the photoreceptor cell degeneration by approximately 1 day.PMID:34088267 | PMC:PMC8176615 | DOI:10.1186/s12575-021-00150-y
Source: Biological Procedures Online - June 5, 2021 Category: Molecular Biology Authors: Chisato Inoue Tamaki Takeuchi Akira Shiota Mineo Kondo Yuji Nshizawa Source Type: research

Spectrum, frequency, and genotype-phenotype of mutations in SPATA7.
Conclusions: Narrow arterioles, a relatively well-preserved macular region, and widespread RPE atrophy resulting in diffuse mottling hypopigmentation in the midperipheral retina may be considered early and common fundus changes specific to SPATA7-associated retinopathy. The fact that similar mutations result in varied phenotypes points to the existence of other potential modifiers of the disease. Uncovering the identity of these modifiers might aid the development of novel treatments. PMID: 31908400 [PubMed - in process]
Source: Molecular Vision - January 9, 2020 Category: Molecular Biology Tags: Mol Vis Source Type: research

Voretigene Neparvovec: A Review in RPE65 Mutation-Associated Inherited Retinal Dystrophy
AbstractVoretigene neparvovec (Luxturna®), a recombinant adeno-associated virus vector-based gene therapy, delivers a functioning copy of the human retinal pigment epithelium-specific 65  kDa (RPE65) gene into retinal cells of patients with reduced or absent levels of RPE65 protein, providing the potential to restore the visual cycle. A single-dose subretinal injection of voretigene neparvovec administered in each eye is approved in several countries worldwide for the treatment of vision loss in adult and paediatric patients with confirmed biallelicRPE65 mutation-associated inherited retinal dystrophy (IRD) and with suff...
Source: Molecular Diagnosis and Therapy - June 12, 2020 Category: Molecular Biology Source Type: research

Seizures and Cardiomyopathy in a Patient with Pallister-Killian Syndrome due to Hexasomy 12p Mosaicism
We report a 10 year follow-up on a girl with 2 copies of isochromosome consisting of the short arm of chromosome 12, who has craniofacial features seen in PKS, such as sparse hair with an unusual pattern, sparse eyebrows, lacrimal duct stenosis, submucous cleft palate, Pallister lip (a relatively long philtrum continuing into the vermillion border of the upper lip), narrow palate, and wide alveolar ridges. She also has other abnormalities, including unilateral renal dysgenesis, rectovaginal fistula, pre-axial polydactyly of the right hand, severe global developmental delay, and hypotonia as well as some features suggestive...
Source: Molecular Syndromology - April 9, 2020 Category: Molecular Biology Source Type: research

A rat model for retinitis pigmentosa with rapid retinal degeneration enables drug evaluation in vivo
CONCLUSIONS: In this RP model, the time to onset of retinal degeneration was less than that of previously reported RP models with other rhodopsin mutations, enabling quicker in vivo evaluation of drug efficacy. Administration of rapamycin delayed the photoreceptor cell degeneration by approximately 1 day.PMID:34088267 | DOI:10.1186/s12575-021-00150-y
Source: Biological Procedures Online - June 5, 2021 Category: Molecular Biology Authors: Chisato Inoue Tamaki Takeuchi Akira Shiota Mineo Kondo Yuji Nshizawa Source Type: research

Decoding Noncoding RNAs: Role of MicroRNAs and Long Noncoding RNAs in Ocular Neovascularization
Ocular neovascularization is a pathological sequel of multiple eye diseases. Based on the anatomical site into which the abnormal neovessels grow, ocular neovascularization can be categorized into corneal neovascularization, choroidal neovascularization, and retinal neovascularization. Each category is intractable, and may lead to blindness if not appropriately treated. However, the current therapeutic modalities, including laser photocoagulation, vitrectomy surgery, and anti-VEGF drugs, raise concerns due to limited efficacy, damage on retinal parenchyma and vasculature, and the patients' unresponsiveness to the treatment...
Source: Theranostics - September 12, 2017 Category: Molecular Biology Authors: Yan Zhang, Siwei Cai, Yurong Jia, Chen Qi, Jing Sun, Hong Zhang, Fei Wang, Yunshan Cao, Xiaorong Li Tags: Review Source Type: research

Artificial intelligence-based decision-making for age-related macular degeneration
Conclusions: We therefore developed a website for realistic cloud computing based on this AI platform, available at https://www.ym.edu.tw/~AI-OCT/. Patients can upload their OCT images to the website to verify whether they have AMD and require treatment. Using an AI-based cloud service represents a real solution for medical imaging diagnostics and telemedicine.
Source: Theranostics - June 13, 2019 Category: Molecular Biology Authors: De-Kuang Hwang, Chih-Chien Hsu, Kao-Jung Chang, Daniel Chao, Chuan-Hu Sun, Ying-Chun Jheng, Aliaksandr A. Yarmishyn, Jau-Ching Wu, Ching-Yao Tsai, Mong-Lien Wang, Chi-Hsien Peng, Ke-Hung Chien, Chung-Lan Kao, Tai-Chi Lin, Lin-Chung Woung, Shih-Jen Chen, S Tags: Research Paper Source Type: research

Metabolomic profiling identifies novel biomarkers and mechanisms in human bladder cancer treated with submucosal injection of gemcitabine.
Abstract Bladder cancer (BCa) is a common urinary tract malignancy with frequent recurrences after initial resection. Submucosal injection of gemcitabine prior to transurethral resection of bladder tumor (TURBT) may prevent recurrence of urothelial cancer. However, the underlying mechanism remains unknown. In the present study, ultra‑performance liquid chromatography Q‑Exactive mass spectrometry was used to profile tissue metabolites from 12 BCa patients. The 48 samples included pre‑ and post‑gemcitabine treatment BCa tissues, as well as adjacent normal tissues. Principal component analysis (PCA) revealed ...
Source: International Journal of Molecular Medicine - September 22, 2019 Category: Molecular Biology Authors: Yang C, Sun X, Wang H, Lu T, Wu K, Guan Y, Tang J, Liang J, Sun R, Guo Z, Zheng S, Wu X, Jiang H, Jiang X, Zhong B, Niu X, Sun S, Wang X, Chen M, Fu G Tags: Int J Mol Med Source Type: research

Hepatic stellate cells derived from the nestin-positive cells in septum transversum during rat liver development
AbstractHepatic stellate cells (HSCs) play a principal role in Vitamin A metabolism and are considered the major matrix-producing cell type in the diseased liver. Rat HSCs are identified by immunohistochemistry with myogenic or mesenchymal (desmin, vimentin, and alpha-smooth muscle actin) or neural (e.g., GFAP or neuronal cell adhesion molecule) markers. Embryonic origin of rat HSCs was determined using these markers. Nestin, an intermediate filament protein originally identified in neuronal stem or progenitor cells, is widely used as a stem cell marker, including hepatic stem cells in adult rat livers. Additionally, nesti...
Source: Medical Molecular Morphology - January 29, 2018 Category: Molecular Biology Source Type: research

Co-existence of Novel PDE6A Mutations and A Recurrent RPGR Mutation: A Potential Explanation for Phenotypic Diversity in Female RPGR Mutation Carriers.
CONCLUSIONS: Taken together, we hypothesize that the phenotypic variability presented by female RPGR mutation carriers may be attributed to the co-existence of other disease causative mutations. Our study also emphasizes the importance of comprehensive genetic analysis in these female carriers, which will contribute to better diagnosis, prognosis, and treatment for these patients. PMID: 30289068 [PubMed - as supplied by publisher]
Source: Current Molecular Medicine - October 4, 2018 Category: Molecular Biology Authors: Chen X, Sheng X, Liu G, Liu Y, Li H, Xie P, Liu Q, Yan B, Zhao C Tags: Curr Mol Med Source Type: research