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Usher syndrome

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https://www.readbyqxmd.com/read/28186610/-progress-in-research-on-pathogenic-genes-and-gene-therapy-for-inherited-retinal-diseases
#1
Ling Zhu, Cong Cao, Jiji Sun, Tao Gao, Xiaoyang Liang, Zhipeng Nie, Yanchun Ji, Pingping Jiang, Minxin Guan
Inherited retinal diseases (IRDs), including retinitis pigmentosa, Usher syndrome, Cone-Rod degenerations, inherited macular dystrophy, Leber's congenital amaurosis, Leber's hereditary optic neuropathy are the most common and severe types of hereditary ocular diseases. So far more than 200 pathogenic genes have been identified. With the growing knowledge of the genetics and mechanisms of IRDs, a number of gene therapeutic strategies have been developed in the laboratory or even entered clinical trials. Here the progress of IRD research on the pathogenic genes and therapeutic strategies, particularly gene therapy, are reviewed...
February 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28165476/gene-therapy-restores-auditory-and-vestibular-function-in-a-mouse-model-of-usher-syndrome-type-1c
#2
Bifeng Pan, Charles Askew, Alice Galvin, Selena Heman-Ackah, Yukako Asai, Artur A Indzhykulian, Francine M Jodelka, Michelle L Hastings, Jennifer J Lentz, Luk H Vandenberghe, Jeffrey R Holt, Gwenaëlle S Géléoc
Because there are currently no biological treatments for hearing loss, we sought to advance gene therapy approaches to treat genetic deafness. We focused on Usher syndrome, a devastating genetic disorder that causes blindness, balance disorders and profound deafness, and studied a knock-in mouse model, Ush1c c.216G>A, for Usher syndrome type IC (USH1C). As restoration of complex auditory and balance function is likely to require gene delivery systems that target auditory and vestibular sensory cells with high efficiency, we delivered wild-type Ush1c into the inner ear of Ush1c c...
February 6, 2017: Nature Biotechnology
https://www.readbyqxmd.com/read/28149793/our-experience-with-smartphone-and-spherical-lens-for-the-eye-fundus-examination-during-humanitarian-project-in-africa
#3
Alena Furdova, Adriana Furdova, Vladimir Krcmery
To present the experience of eye fundus photo documentation by using the plus 20 diopters spherical Volk lens and a smartphone with 4.2 Mpix camera and LED flash within the screening project of eye disorders in countries where the standard ophthalmology equipment is not available. Totally 241 patients underwent ophthalmology screening examination. The documentation of the eye fundus included patients with Burkitt lymphoma, Kala Azar, malnutrition with unknown etiology, tuberculosis, HIV positive patients, Usher syndrome and hypertension...
2017: International Journal of Ophthalmology
https://www.readbyqxmd.com/read/28137943/characterization-of-the-ternary-usher-syndrome-sans-ush2a-whirlin-protein-complex
#4
Nasrin Sorusch, Katharina Bauß, Janet Plutniok, Ananya Samanta, Barbara Knapp, Kerstin Nagel-Wolfrum, Uwe Wolfrum
The Usher syndrome (USH) is the most common form of inherited deaf-blindness, accompanied by vestibular dysfunction. Due to the heterogeneous manifestation of the clinical symptoms, three USH types (USH1-3) and additional atypical forms are distinguished. USH1 and USH2 proteins have been shown to function together in multiprotein networks in photoreceptor cells and hair cells. Mutations in USH proteins are considered to disrupt distinct USH protein networks and finally lead to the development of USH.
January 29, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28054582/gene-therapy-approaches-for-prevention-of-retinal-degeneration-in-usher-syndrome
#5
D S Williams, A Chadha, R Hazim, D Gibbs
No abstract text is available yet for this article.
February 2017: Gene Therapy
https://www.readbyqxmd.com/read/28031293/the-roles-of-ush1-proteins-and-pdz-domain-containing-ush-proteins-in-ush2-complex-integrity-in-cochlear-hair-cells
#6
Junhuang Zou, Qian Chen, Ali Almishaal, Pranav Dinesh Mathur, Tihua Zheng, Cong Tian, Qing Y Zheng, Jun Yang
Usher syndrome (USH) is the most common cause of inherited deaf-blindness, manifested as USH1, USH2 and USH3 clinical types. The protein products of USH2 causative and modifier genes, USH2A, ADGRV1, WHRN and PDZD7, interact to assemble a multiprotein complex at the ankle link region of the mechanosensitive stereociliary bundle in hair cells. Defects in this complex cause stereociliary bundle disorganization and hearing loss. The four USH2 proteins also interact in vitro with USH1 proteins including myosin VIIa, USH1G (SANS), CIB2 and harmonin...
December 28, 2016: Human Molecular Genetics
https://www.readbyqxmd.com/read/27957503/usher-syndrome-in-denmark-mutation-spectrum-and-some-clinical-observations
#7
Shzeena Dad, Nanna Dahl Rendtorff, Lisbeth Tranebjærg, Karen Grønskov, Helena Gásdal Karstensen, Vigdis Brox, Øivind Nilssen, Anne-Françoise Roux, Thomas Rosenberg, Hanne Jensen, Lisbeth Birk Møller
BACKGROUND: Usher syndrome (USH) is a genetically heterogeneous deafness-blindness syndrome, divided into three clinical subtypes: USH1, USH2 and USH3. METHODS: Mutations in 21 out of 26 investigated Danish unrelated individuals with USH were identified, using a combination of molecular diagnostic methods. RESULTS: Before Next Generation Sequencing (NGS) became available mutations in nine individuals (1 USH1, 7 USH2, 1 USH3) were identified by Sanger sequencing of USH1C,USH2A or CLRN1 or by Arrayed Primer EXtension (APEX) method...
September 2016: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/27872819/diagnosis-of-a-mild-peroxisomal-phenotype-with-next-generation-sequencing
#8
Meredith J Ventura, Dianna Wheaton, Mingchu Xu, David Birch, Sara J Bowne, Lori S Sullivan, Stephen P Daiger, Annette E Whitney, Richard O Jones, Ann B Moser, Rui Chen, Michael F Wangler
Peroxisomal biogenesis disorders (PBD) are caused by mutations in PEX genes, and are typically diagnosed with biochemical testing in plasma followed by confirmatory testing. Here we report the unusual diagnostic path of a child homozygous for PEX1 p.G843D. The patient presented with sensorineural hearing loss, pigmentary retinopathy, and normal intellect. After testing for Usher syndrome was negative, he was found to have PBD through a research sequencing panel. When evaluating a patient with hearing loss and pigmentary retinopathy, mild PBD should be on the differential regardless of cognitive function...
December 2016: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/27862925/gene-and-cell-based-therapies-for-inherited-retinal-disorders-an-update
#9
Jesse D Sengillo, Sally Justus, Yi-Ting Tsai, Thiago Cabral, Stephen H Tsang
Retinal degenerations present a unique challenge as disease progression is irreversible and the retina has little regenerative potential. No current treatments for inherited retinal disease have the ability to reverse blindness, and current dietary supplement recommendations only delay disease progression with varied results. However, the retina is anatomically accessible and capable of being monitored at high resolution in vivo. This, in addition to the immune-privileged status of the eye, has put ocular disease at the forefront of advances in gene- and cell-based therapies...
December 2016: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/27860478/-gene-therapy-for-inherited-retinal-and-optic-nerve-disorders-current-knowledge
#10
Ľ Ďuďáková, B Kousal, H Kolářová, L Hlavatá, P Lišková
The aim of this review is to provide a comprehensive summary of current gene therapy clinical trials for monogenic and optic nerve disorders.The number of genes for which gene-based therapies are being developed is growing. At the time of writing this review gene-based clinical trials have been registered for Leber congenital amaurosis 2 (LCA2), retinitis pigmentosa 38, Usher syndrome 1B, Stargardt disease, choroideremia, achromatopsia, Leber hereditary optic neuropathy (LHON) and X-linked retinoschisis. Apart from RPE65 gene therapy for LCA2 and MT-ND4 for LHON which has reached phase III, all other trials are in investigation phase I and II, i...
2016: Ceská a Slovenská Oftalmologie
https://www.readbyqxmd.com/read/27836652/intracranial-vessel-wall-imaging-for-evaluation-of-steno-occlusive-diseases-and-intracranial-aneurysms
#11
REVIEW
Waleed Brinjikji, Mahmud Mossa-Basha, John Huston, Alejandro A Rabinstein, Giuseppe Lanzino, Vance T Lehman
Cerebrovascular diseases have traditionally been classified, diagnosed and managed based on their luminal characteristics. However, over the past several years, several advancements in MRI techniques have ushered in high-resolution vessel wall imaging (HR-VWI), enabling evaluation of intracranial vessel wall pathology. These advancements now allow us to differentiate diseases which have a common angiographic appearance but vastly different natural histories (i.e. moyamoya versus atherosclerosis, reversible cerebral vasoconstriction syndrome versus vasculitis, stable versus unstable intracranial aneurysms)...
November 8, 2016: Journal of Neuroradiology. Journal de Neuroradiologie
https://www.readbyqxmd.com/read/27828912/clinical-presentation-and-disease-course-of-usher-syndrome-because-of-mutations-in-myo7a-or-ush2a
#12
Francesco Testa, Paolo Melillo, Crystel Bonnet, Vincenzo Marcelli, Antonella de Benedictis, Raffaella Colucci, Beatrice Gallo, Anne Kurtenbach, Settimio Rossi, Elio Marciano, Alberto Auricchio, Christine Petit, Eberhart Zrenner, Francesca Simonelli
PURPOSE: To evaluate differences in the visual phenotype and natural history of Usher syndrome caused by mutations in MYO7A or USH2A, the most commonly affected genes of Usher syndrome Type I (USH1) and Type II (USH2), respectively. METHODS: Eighty-eight patients with a clinical diagnosis of USH1 (26 patients) or USH2 (62 patients) were retrospectively evaluated. Of these, 48 patients had 2 disease-causing mutations in MYO7A (10 USH1 patients), USH2A (33 USH2 patients), and other USH (5 patients) genes...
November 8, 2016: Retina
https://www.readbyqxmd.com/read/27802265/antisense-oligonucleotide-based-splice-correction-for-ush2a-associated-retinal-degeneration-caused-by-a-frequent-deep-intronic-mutation
#13
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
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. In general, mutations in the USH2A gene are the most frequent cause of USH explaining up to 50% of all patients worldwide. The first deep-intronic mutation in the USH2A gene (c.7595-2144A>G) was reported in 2012, leading to the insertion of a pseudoexon (PE40) into the mature USH2A transcript...
November 1, 2016: Molecular Therapy. Nucleic Acids
https://www.readbyqxmd.com/read/27771768/advances-in-genetic-hearing-loss-cib2-gene
#14
Agnieszka Jacoszek, Agnieszka Pollak, Rafał Płoski, Monika Ołdak
Hearing plays a crucial role in human development. Receiving and processing sounds are essential for the advancement of the speech ability during the early childhood and for a proper functioning in the society. Hearing loss is one of the most frequent disabilities that affect human senses. It can be caused by genetic or environmental factors or both of them. Calcium- and integrin-binding protein 2 (CIB2) is one of the recently identified genes, involved in HI pathogenesis. CIB2 is widely expressed in various human and animal tissues, mainly in skeletal muscle, nervous tissue, inner ear, and retina...
October 22, 2016: European Archives of Oto-rhino-laryngology
https://www.readbyqxmd.com/read/27759911/hearing-aid-fitting-for-visual-and-hearing-impaired-patients-with-usher-syndrome-type-iia
#15
Bas P Hartel, Martijn J H Agterberg, Ad F Snik, Henricus P M Kunst, A John V Opstal, Arjan J Bosman, Ronald J E Pennings
OBJECTIVES: Usher syndrome is the leading cause of hereditary deaf-blindness. Most patients with Usher syndrome type IIa start using hearing aids from a young age. A serious complaint refers to interference between sound localization abilities and adaptive sound processing (compression), as present in today's hearing aids. The aim of this study was to investigate the effect of advanced signal processing on binaural hearing, including sound localization. DESIGN AND PARTICIPANTS: In this prospective study, patients were fitted with hearing aids with a nonlinear (compression) and linear amplification program...
October 19, 2016: Clinical Otolaryngology
https://www.readbyqxmd.com/read/27757761/myosins-domain-organisation-motor-properties-physiological-roles-and-cellular-functions
#16
Thomas A Masters, John Kendrick-Jones, Folma Buss
Myosins are cytoskeletal motor proteins that use energy derived from ATP hydrolysis to generate force and movement along actin filaments. Humans express 38 myosin genes belonging to 12 classes that participate in a diverse range of crucial activities, including muscle contraction, intracellular trafficking, cell division, motility, actin cytoskeletal organisation and cell signalling. Myosin malfunction has been implicated a variety of disorders including deafness, hypertrophic cardiomyopathy, Usher syndrome, Griscelli syndrome and cancer...
2017: Handbook of Experimental Pharmacology
https://www.readbyqxmd.com/read/27743452/the-combination-of-vestibular-impairment-and-congenital-sensorineural-hearing-loss-predisposes-patients-to-ocular-anomalies-including-usher-syndrome
#17
Stephanie Kletke, Vaishnavi Batmanabane, Tianyang Dai, Ajoy Vincent, Shuning Li, Karen A Gordon, Blake C Papsin, Sharon L Cushing, Elise Héon
The co-occurrence of hearing impairment and visual dysfunction is devastating. Most deaf-blind etiologies are genetically determined, the commonest being Usher syndrome (USH). While studies of the congenitally deaf population reveal a variable degree of visual problems, there are no effective ophthalmic screening guidelines. We hypothesized that children with congenital sensorineural hearing loss (SNHL) and vestibular impairment were at an increased risk of having Usher syndrome. A retrospective chart review of 33 cochlear implants recipients for severe to profound SNHL and measured vestibular dysfunction was done to determine the ocular phenotype...
October 15, 2016: Clinical Genetics
https://www.readbyqxmd.com/read/27729122/compound-heterozygous-myo7a-mutations-segregating-usher-syndrome-type-2-in-a-han-family
#18
Ling Zong, Kaitian Chen, Xuan Wu, Min Liu, Hongyan Jiang
OBJECTIVE: Identification of rare deafness genes for inherited congenital sensorineural hearing impairment remains difficult, because a large variety of genes are implicated. In this study we applied targeted capture and next-generation sequencing to uncover the underlying gene in a three-generation Han family segregating recessive inherited hearing loss and retinitis pigmentosa. METHODS: After excluding mutations in common deafness genes GJB2, SLC26A4 and the mitochondrial gene, genomic DNA of the proband of a Han family was subjected to targeted next-generation sequencing...
November 2016: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/27683224/antisense-oligonucleotides-delivered-to-the-amniotic-cavity-in-utero-modulate-gene-expression-in-the-postnatal-mouse
#19
Frederic F Depreux, Lingyan Wang, Han Jiang, Francine M Jodelka, Robert F Rosencrans, Frank Rigo, Jennifer J Lentz, John V Brigande, Michelle L Hastings
Congenital diseases account for a large portion of pediatric illness. Prenatal screening and diagnosis permit early detection of many genetic diseases. Fetal therapeutic strategies to manage disease processes in utero represent a powerful new approach for clinical care. A safe and effective fetal pharmacotherapy designed to modulate gene expression ideally would avoid direct mechanical engagement of the fetus and present an external reservoir of drug. The amniotic cavity surrounding the fetus could serve as an ideal drug reservoir...
November 16, 2016: Nucleic Acids Research
https://www.readbyqxmd.com/read/27633571/severe-early-onset-retinitis-pigmentosa-in-a-moroccan-patient-with-heimler-syndrome-due-to-novel-homozygous-mutation-of-pex1-gene
#20
Ilham Ratbi, Imane Cherkaoui Jaouad, Hamza Elorch, Nada Al-Sheqaih, Mustapha Elalloussi, Jaber Lyahyai, Amina Berraho, William G Newman, Abdelaziz Sefiani
Heimler syndrome (HS) is a rare recessive disorder characterized by sensorineural hearing loss (SNHL), amelogenesis imperfecta, nail abnormalities, and occasional or late-onset retinal pigmentation. It is the mildest form known to date of peroxisome biogenesis disorder caused by hypomorphic mutations of PEX1 and PEX6 genes. We report on a second Moroccan family with Heimler syndrome with early onset, severe visual impairment and important phenotypic overlap with Usher syndrome. The patient carried a novel homozygous missense variant c...
October 2016: European Journal of Medical Genetics
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