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https://www.readbyqxmd.com/read/28106895/identification-of-a-novel-nrl-mutation-in-a-chinese-family-with-retinitis-pigmentosa-by-whole-exome-sequencing
#1
Y Qin, F Liu, S Yu, L Yang, M Gao, Z Tang, A Y Guo, M Zhang, P Li, M Liu
No abstract text is available yet for this article.
January 20, 2017: Eye
https://www.readbyqxmd.com/read/28103888/photoreceptor-protection-via-blockade-of-bet-epigenetic-readers-in-a-murine-model-of-inherited-retinal-degeneration
#2
Lei Zhao, Jun Li, Yingmei Fu, Mengxue Zhang, Bowen Wang, Jonathan Ouellette, Pawan K Shahi, Bikash R Pattnaik, Jyoti J Watters, Wai T Wong, Lian-Wang Guo
BACKGROUND: The bromodomain and extraterminal domain (BET) family proteins (BET2, BET3, and BET4) "read" (bind) histone acetylation marks via two distinct bromodomains (Brom1 and Brom2) facilitating transcriptional activation. These epigenetic "readers" play crucial roles in pathogenic processes such as inflammation. The role of BETs in influencing the degenerative process in the retina is however unknown. METHODS: We employed the rd10 mouse model (Pde6b (rd10) mutation) of retinitis pigmentosa (RP) to examine the involvement of BET proteins in retinal neurodegeneration...
January 19, 2017: Journal of Neuroinflammation
https://www.readbyqxmd.com/read/28099972/prurigo-pigmentosa-in-white-monozygotic-twins
#3
Carine Houriet, Delphine L Perruchoud, Helmut Beltraminelli, Luca Borradori
No abstract text is available yet for this article.
January 11, 2017: JAMA Dermatology
https://www.readbyqxmd.com/read/28098731/choroidal-structure-altered-by-degeneration-of-retina-in-eyes-with-retinitis-pigmentosa
#4
Hiroki Kawano, Shozo Sonoda, Shiro Saito, Hiroto Terasaki, Taiji Sakamoto
PURPOSE: To compare the structural characteristics of the choroid in the areas with greater retinal degeneration to the areas with less retinal degeneration in eyes with retinitis pigmentosa (RP). METHODS: Patients with RP who had a hyperautofluorescent ring were studied. The choroidal images obtained by enhanced depth imaging optical coherence tomography located 7,500 μm from the optic disk in the horizontal plane were analyzed. The cross-sectional areas of the total, luminal, and stromal choroid were measured...
January 16, 2017: Retina
https://www.readbyqxmd.com/read/28095350/progressive-multifocal-leukoencephalopathy-in-a-patient-with-systemic-mastocytosis-treated-with-cladribine
#5
Karl B Alstadhaug, Randi Fykse Halstensen, Francis Odeh
BACKGROUND: Progressive multifocal leukoencephalopathy (PML) is a rare opportunistic brain infection caused by the human polyomavirus JC (JCPyV). A particular problem with the drug cladribine seems to be prolonged suppression of the CD4+ T-cells, a well-known risk factor for PML. CASE DESCRIPTION: A 67-year-old male presented with a 3-weeks history of unsteady gait, dysarthria and a dysfunctional right arm. Seven years earlier, he had been diagnosed with urticaria pigmentosa, and 2 years later aggressive systemic mastocytosis...
December 14, 2016: Journal of Clinical Virology: the Official Publication of the Pan American Society for Clinical Virology
https://www.readbyqxmd.com/read/28095122/exome-sequencing-confirms-znf408-mutations-as-a-cause-of-familial-retinitis-pigmentosa
#6
Imen Habibi, Ahmed Chebil, Fedra Kort, Daniel F Schorderet, Leila El Matri
No abstract text is available yet for this article.
January 17, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28095071/mevalonate-kinase-deficiency-associated-with-ataxia-and-retinitis-pigmentosa-in-two-brothers-with-mvk-gene-mutations
#7
Ulrich Kellner, Heidi Stöhr, Silke Weinitz, Ghazaleh Farmand, Bernhard H F Weber
PURPOSE: To report the clinical and molecular genetic findings in two brothers with retinitis pigmentosa (RP) and mevalonate kinase deficiency (MKD). METHODS: The brothers were examined clinically and with fundus autofluorescence, near-infrared autofluorescence, and spectral domain optical coherence tomography. Targeted resequencing was done with a custom designed gene panel containing 78 genes associated with RP. Mutations were confirmed by direct Sanger sequencing...
January 17, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28078103/the-potential-of-spectral-domain-optical-coherence-tomography-imaging-based-retinal-biomarkers
#8
REVIEW
Prateep Phadikar, Sandeep Saxena, Surabhi Ruia, Timothy Y Y Lai, Carsten H Meyer, Dean Eliott
BACKGROUND: Biomarker", a merged word of "biological marker", refers to a broad subcategory of medical signs that objectively indicate the state of health, and well-being of an individual. Biomarkers hold great promise for personalized medicine as information gained from diagnostic or progression markers can be used to tailor treatment to the individual for highly effective intervention in the disease process. Optical coherence tomography (OCT) has proved useful in identifying various biomarkers in ocular and systemic diseases...
2017: International Journal of Retina and Vitreous
https://www.readbyqxmd.com/read/28077313/a-kind-of-rd1-mouse-in-c57bl-6j-mice-from-crossing-with-a-mutated-kunming-mouse
#9
Weiming Yan, Lu Yao, Wei Liu, Kai Sun, ZuoMing Zhang, Lei Zhang
We occasionally discovered a mouse with spontaneous retinitis pigmentosa (RP) from Kunming (KM) mouse breeding colony, with no obvious waveforms in ERG recordings. The aim of this study is to cross the spontaneously hereditary retinal degeneration mice (temporarily designated as KM/rd mice) derived from KM mice with C57BL/6J mice to establish a congenic inbred strain (temporarily designated as the B6/rd mice), and study the ocular phenotype and genotype of the mice. Fundus photography, tissue morphology, electroretinography (ERG), qRT-PCR, western blot and DNA sequence analysis were performed to observe the ocular phenotype and genotype of KM/rd and B6/rd mice...
January 8, 2017: Gene
https://www.readbyqxmd.com/read/28076437/mutations-in-splicing-factor-genes-are-a-major-cause-of-autosomal-dominant-retinitis-pigmentosa-in-belgian-families
#10
Caroline Van Cauwenbergh, Frauke Coppieters, Dimitri Roels, Sarah De Jaegere, Helena Flipts, Julie De Zaeytijd, Sophie Walraedt, Charlotte Claes, Erik Fransen, Guy Van Camp, Fanny Depasse, Ingele Casteels, Thomy de Ravel, Bart P Leroy, Elfride De Baere
PURPOSE: Autosomal dominant retinitis pigmentosa (adRP) is characterized by an extensive genetic heterogeneity, implicating 27 genes, which account for 50 to 70% of cases. Here 86 Belgian probands with possible adRP underwent genetic testing to unravel the molecular basis and to assess the contribution of the genes underlying their condition. METHODS: Mutation detection methods evolved over the past ten years, including mutation specific methods (APEX chip analysis), linkage analysis, gene panel analysis (Sanger sequencing, targeted next-generation sequencing or whole exome sequencing), high-resolution copy number screening (customized microarray-based comparative genomic hybridization)...
2017: PloS One
https://www.readbyqxmd.com/read/28065882/rescue-of-mutant-rhodopsin-traffic-by-metformin-induced-ampk-activation-accelerates-photoreceptor-degeneration
#11
Dimitra Athanasiou, Monica Aguila, Chikwado A Opefi, Kieron South, James Bellingham, Dalila Bevilacqua, Peter M Munro, Naheed Kanuga, Francesca E Mackenzie, Adam M Dubis, Anastasios Georgiadis, Anna B Graca, Rachael A Pearson, Robin R Ali, Sanae Sakami, Krzysztof Palczewski, Michael Y Sherman, Philip J Reeves, Michael E Cheetham
Protein misfolding caused by inherited mutations leads to loss of protein function and potentially toxic 'gain of function', such as the dominant P23H rhodopsin mutation that causes retinitis pigmentosa (RP). Here, we tested whether the AMPK activator metformin could affect the P23H rhodopsin synthesis and folding. In cell models, metformin treatment improved P23H rhodopsin folding and traffic. In animal models of P23H RP, metformin treatment successfully enhanced P23H traffic to the rod outer segment, but this led to reduced photoreceptor function and increased photoreceptor cell death...
January 7, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28061825/new-cdh3-mutation-in-the-first-spanish-case-of-hypotrichosis-with-juvenile-macular-dystrophy-a-case-report
#12
Fiona Blanco-Kelly, Luciana Rodrigues-Jacy da Silva, Iker Sanchez-Navarro, Rosa Riveiro-Alvarez, Miguel Angel Lopez-Martinez, Marta Corton, Carmen Ayuso
BACKGROUND: CDH3 on 16q22.1 is responsible for two rare autosomal recessive disorders with hypotrichosis and progressive macular dystrophy: Hypotrichosis with Juvenile Macular Dystrophy and Ectodermal Dysplasia, Ectrodactyly and Macular Dystrophy. We present a new case of Hypotrichosis with Juvenile Macular Dystrophy. CASE PRESENTATION: A Spanish male born in 1998 from non-consanguineous healthy parents with a suspected diagnosis of Keratosis Follicularis Spinulosa Decalvans and Retinitis Pigmentosa Inversa referred to our Genetics Department (IIS-Fundación Jiménez Díaz)...
January 7, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28060358/electronic-retinal-implant-surgery
#13
R E MacLaren
Blindness due to outer retinal degeneration still remains largely untreatable. Photoreceptor loss removes light sensitivity, but the remaining inner retinal layers, the optic nerve, and indeed the physical structure of the eye itself may be unaffected by the degenerative processes. This provides the opportunity to restore some degree of vision with an electronic device in the subretinal space. In this lecture I will provide an overview of our experiences with the first-generation retinal implant Alpha IMS, developed by Retina Implant AG and based on the technology developed by Eberhart Zrenner as part of a multicentre clinical trial (NCT01024803)...
January 6, 2017: Eye
https://www.readbyqxmd.com/read/28058154/intravitreal-dexamethasone-implant-ozurdex-for-refractory-macular-edema-secondary-to-retinitis-pigmentosa
#14
Nurgül Örnek, Kemal Örnek, İnci Elif Erbahçeci
Macular edema (ME) in retinitis pigmentosa (RP) often impairs central vision dramatically. A 41-year-old woman diagnosed with RP was referred to our outpatient clinic due to severe visual deterioration in both eyes. The patient was treated with topical carbonic anhydrase inhibitors, topical corticosteroids and intravitreal triamcinolone acetonide injections, but her ME recurred. Intravitreal 0.7 mg dexamethasone implant (Ozurdex, Allergan) was administered into both eyes without complications. On the fourth day after both injections, visual acuity improved and ME almost totally resolved...
August 2016: Turkish Journal of Ophthalmology
https://www.readbyqxmd.com/read/28056120/clinical-characterization-of-cngb1-related-autosomal-recessive-retinitis-pigmentosa
#15
Sarah Hull, Marcella Attanasio, Gavin Arno, Keren Carss, Anthony G Robson, Dorothy A Thompson, Vincent Plagnol, Michel Michaelides, Graham E Holder, Robert H Henderson, F Lucy Raymond, Anthony T Moore, Andrew R Webster
Importance: There are limited published data on the phenotype of retinitis pigmentosa (RP) related to CNGB1 variants. These data are needed both for prognostic counseling of patients and for understanding potential treatment windows. Objective: To describe the detailed clinical and molecular genetic findings in a series of patients with RP with likely pathogenic variants in CNGB1. Design, Setting, and Participants: In this case series, 10 patients from 9 families underwent full ophthalmologic examination...
January 5, 2017: JAMA Ophthalmology
https://www.readbyqxmd.com/read/28053051/rom1-converts-y141c-prph2-associated-pattern-dystrophy-to-retinitis-pigmentosa
#16
Shannon M Conley, Michael W Stuck, Jamie N Watson, Muna I Naash
Mutations in peripherin 2 (PRPH2), also known as retinal degeneration slow/RDS, lead to various retinal degenerations including retinitis pigmentosa (RP) and macular/pattern dystrophy (MD/PD). PRPH2-associated disease is often characterized by a phenotypic variability even within families carrying the same mutation, raising interest in potential modifiers. PRPH2 oligomerizes with its homologue rod outer segment (OS) membrane protein 1 (ROM1), and non-pathogenic PRPH2/ROM1 mutations, when present together, lead to digenic RP...
January 4, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28045043/high-prevalence-of-mutations-affecting-the-splicing-process-in-a-spanish-cohort-with-autosomal-dominant-retinitis-pigmentosa
#17
Maitane Ezquerra-Inchausti, Olatz Barandika, Ander Anasagasti, Cristina Irigoyen, Adolfo López de Munain, Javier Ruiz-Ederra
Retinitis pigmentosa is the most frequent group of inherited retinal dystrophies. It is highly heterogeneous, with more than 80 disease-causing genes 27 of which are known to cause autosomal dominant RP (adRP), having been identified. In this study a total of 29 index cases were ascertained based on a family tree compatible with adRP. A custom panel of 31 adRP genes was analysed by targeted next-generation sequencing using the Ion PGM platform in combination with Sanger sequencing. This allowed us to detect putative disease-causing mutations in 14 out of the 29 (48...
January 3, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28045002/topographic-prominence-discriminator-for-the-detection-of-short-latency-spikes-of-retinal-ganglion-cells
#18
Myoung-Hwan Choi, Jungryul Ahn, Daejin Park, Sang Min Lee, Kwangsoo Kim, Dong-Il Cho, Solomon Senok, Kyo-In Koo, Yongsook Goo
<i>Objective</i>: Direct stimulation of retinal ganglion cells in degenerate retinas by implanting epi-retinal prostheses is a recognized strategy for restoration of visual perception in patients with retinitis pigmentosa or age-related macular degeneration. Elucidating the best stimulus-response paradigms in the laboratory using multielectrode arrays (MEA) is complicated by the fact that the short-latency spikes (within 10 ms) elicited by direct retinal ganglion cell (RGC) stimulation are obscured by the stimulus artifact which is generated by the electrical stimulator...
January 3, 2017: Journal of Neural Engineering
https://www.readbyqxmd.com/read/28041994/a-dominant-mutation-in-rpe65-d477g-delays-dark-adaptation-and-disturbs-the-visual-cycle-in-the-mutant-knock-in-mice
#19
Younghwa Shin, Gennadiy Moiseyev, Dibyendu Chakraborty, Jian-Xing Ma
RPE65 is an indispensable component of the retinoid visual cycle in vertebrates, through which the visual chromophore 11-cis-retinal (11-cis-RAL) is generated to maintain normal vision. Various blinding conditions in humans, such as Leber congenital amaurosis and retinitis pigmentosa (RP), are attributed to either homozygous or compound heterozygous mutations in RPE65. Herein, we investigated D477G missense mutation, an unprecedented dominant-acting mutation of RPE65 identified in patients with autosomal dominant RP...
December 30, 2016: American Journal of Pathology
https://www.readbyqxmd.com/read/28041644/mutations-in-pih1d3-cause-x-linked-primary-ciliary-dyskinesia-with-outer-and-inner-dynein-arm-defects
#20
Tamara Paff, Niki T Loges, Isabella Aprea, Kaman Wu, Zeineb Bakey, Eric G Haarman, Johannes M A Daniels, Erik A Sistermans, Natalija Bogunovic, Gerard W Dougherty, Inga M Höben, Jörg Große-Onnebrink, Anja Matter, Heike Olbrich, Claudius Werner, Gerard Pals, Miriam Schmidts, Heymut Omran, Dimitra Micha
Defects in motile cilia and sperm flagella cause primary ciliary dyskinesia (PCD), characterized by chronic airway disease, infertility, and left-right body axis disturbance. Here we report maternally inherited and de novo mutations in PIH1D3 in four men affected with PCD. PIH1D3 is located on the X chromosome and is involved in the preassembly of both outer (ODA) and inner (IDA) dynein arms of cilia and sperm flagella. Loss-of-function mutations in PIH1D3 lead to absent ODAs and reduced to absent IDAs, causing ciliary and flagellar immotility...
January 5, 2017: American Journal of Human Genetics
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