The genetic dissection of Myo7a gene expression in the retinas of BXD mice.

Conclusions: Although Myo7a is a causal gene of US type I, this gene works with many other genes and pathways to affect the severity of US. Many of the genes found in the genetic network, pathways, and gene ontology categories of Myo7a are related to either deafness or blindness. Further investigation is needed to examine the specific relationships between these genes, which may assist in the treatment of US. PMID: 29430167 [PubMed - in process]
Source: Molecular Vision - Category: Molecular Biology Tags: Mol Vis Source Type: research

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Publication date: Available online 30 May 2020Source: Journal of American Association for Pediatric Ophthalmology and StrabismusAuthor(s): Gamze Dereli Can, Muhammet Furkan Korkmaz, Mehmet Erol Can
Source: Journal of American Association for Pediatric Ophthalmology and Strabismus - Category: Opthalmology Source Type: research
LncRNA GAS5 suppresses ER stress‑induced apoptosis and inflammation by regulating SERCA2b in HG‑treated retinal epithelial cell. Mol Med Rep. 2020 May 20;: Authors: Jiang L, Wang C, Shen X Abstract Hyperglycemia impairs the retinal functions in patients with diabetic retinopathy (DR). Downregulation of long non‑coding RNA growth arrest‑specific transcript 5 (lncRNA GAS5) expression in diabetes affects glucose intake and insulin signaling. Sarcoplasmic/endoplasmic reticulum Ca2+ ATPase 2 (SERCA2) mediates the regulation of endoplasmic reticulum (ER) stress and apoptosis in high glucose (HG)‑tr...
Source: Molecular Medicine Reports - Category: Molecular Biology Tags: Mol Med Rep Source Type: research
CONCLUSIONS: Peripheral ischemia may present in eyes with chronic inflammation as seen in BRC but does not seem to progress to neovascular complications. This is likely to be more common than suspected and has now become evident following the advent of UWFFA. ABBREVIATIONS: HLA-A29: Human leukocyte antigen - A29; FFA: Fundus fluorescein angiography; OCT: Optical coherence tomography; ICGA: Indocyanine green angiography; UWF: Ultra-wide field; UWFFA: Ultra-wide field fluorescein angiography; CNP: Capillary non-perfusion. PMID: 32469666 [PubMed - as supplied by publisher]
Source: Ocular Immunology and Inflammation - Category: Allergy & Immunology Tags: Ocul Immunol Inflamm Source Type: research
CONCLUSION: Viral RNA of SARS-CoV-2 is detectable in the retina of COVID-19 patients. PMID: 32469258 [PubMed - as supplied by publisher]
Source: Ocular Immunology and Inflammation - Category: Allergy & Immunology Tags: Ocul Immunol Inflamm Source Type: research
PURPOSE: To report the characteristics and longitudinal visual outcomes of traumatic cataracts and retinal detachments in children with self-inflicted injury. METHODS: A retrospective case series of pediatric patients at a tertiary care center who sust...
Source: SafetyLit - Category: International Medicine & Public Health Tags: Age: Adolescents Source Type: news
Conclusions: This research provides an overview of symptoms experienced by patients with USH1 and highlights the dramatic impact these have on patients' lives, allowing the identification of concepts of importance when evaluating therapeutic treatments in development for RP. PMID: 32367747 [PubMed - as supplied by publisher]
Source: Ophthalmic Genetics - Category: Opthalmology Tags: Ophthalmic Genet Source Type: research
A 45-year-old woman with Usher syndrome, associated congenital deafness, progressive blindness due to retinitis pigmentosa, and latent autoimmune diabetes presented to the emergency department with malaise, dizziness, and pelvic pain following removal of an intrauterine device. A posterior vaginal wall mass was found on examination. Laboratory values demonstrated anemia, thrombocytopenia, and an elevated white blood cell count, raising concern for infection and potential onset of diabetic ketoacidosis. This prompted a peripheral blood smear review, which showed 60% monocytic blasts. A subsequent vaginal mass biopsy showed ...
Source: Pathology Case Reviews - Category: Pathology Tags: Case Reviews Source Type: research
Discussion Over 7000 diseases are considered rare disorders according to the National Organization for Rare Disorders® (NORD, rarediseases.org). NORD is a patient advocacy organization dedicated to individuals with rare diseases and the organizations that serve them. They have information on about 1200 rare diseases on their website (https://rarediseases.org/for-patients-and-families/information-resources/rare-disease-information/). Hearing loss (HL) is not rare and is a common problem across the ages. It affects 360 million people worldwide which is about 5% of the population. There are many causes of hearing loss an...
Source: PediatricEducation.org - Category: Pediatrics Authors: Tags: Uncategorized Source Type: news
Authors: Xia H, Hu P, Yuan L, Xiong W, Xu H, Yi J, Yang Z, Deng X, Guo Y, Deng H Abstract Usher syndrome (USH) is an autosomal recessive disorder characterized by sensorineural hearing loss, progressive visual loss and night blindness due to retinitis pigmentosa (RP), with or without vestibular dysfunction. The purpose of this study was to detect the causative gene in a consanguineous Chinese family with USH. A c.3696_3706del (p.R1232Sfs*72) variant in the myosin VIIa gene (MYO7A) was identified in the homozygous state by exome sequencing. The co‑segregation of the MYO7A c.3696_3706del variant with the phenotype ...
Source: Molecular Medicine Reports - Category: Molecular Biology Tags: Mol Med Rep Source Type: research
CONCLUSIONS: We found a remarkable genetic heterogeneity in the studied families with USH1 with a variety of mutations, among which three were novel. These novel mutations will be included in the NADf mutation screening chip that will allow a higher diagnosis efficiency of this extremely genetically heterogeneous disease. Ultimately, efficient molecular diagnosis of USH in a patient's early childhood is of utmost importance, allowing better educational and therapeutic management. PMID: 27440999 [PubMed - in process]
Source: Molecular Vision - Category: Molecular Biology Tags: Mol Vis Source Type: research
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