Search Results - "JACOBSON, G"

Zebrafish—on the move towards ophthalmological research by Chhetri, J, Jacobson, G, Gueven, N

“…Millions of people are affected by visual impairment and blindness globally, and the prevalence of vision loss is likely to increase as we are living longer…”
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Progress in treating inherited retinal diseases: Early subretinal gene therapy clinical trials and candidates for future initiatives by Garafalo, Alexandra V., Cideciyan, Artur V., Héon, Elise, Sheplock, Rebecca, Pearson, Alexander, WeiYang Yu, Caberry, Sumaroka, Alexander, Aguirre, Gustavo D., Jacobson, Samuel G.

“…Due to improved phenotyping and genetic characterization, the field of ‘incurable’ and ‘blinding’ inherited retinal diseases (IRDs) has moved substantially…”
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Effect of an intravitreal antisense oligonucleotide on vision in Leber congenital amaurosis due to a photoreceptor cilium defect by Cideciyan, Artur V., Jacobson, Samuel G., Drack, Arlene V., Ho, Allen C., Charng, Jason, Garafalo, Alexandra V., Roman, Alejandro J., Sumaroka, Alexander, Han, Ian C., Hochstedler, Maria D., Pfeifer, Wanda L., Sohn, Elliott H., Taiel, Magali, Schwartz, Michael R., Biasutto, Patricia, Wit, Wilma de, Cheetham, Michael E., Adamson, Peter, Rodman, David M., Platenburg, Gerard, Tome, Maria D., Balikova, Irina, Nerinckx, Fanny, Zaeytijd, Julie De, Van Cauwenbergh, Caroline, Leroy, Bart P., Russell, Stephen R.

“…Photoreceptor ciliopathies constitute the most common molecular mechanism of the childhood blindness Leber congenital amaurosis. Ten patients with Leber…”
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Human retinal gene therapy for Leber congenital amaurosis shows advancing retinal degeneration despite enduring visual improvement by Cideciyan, Artur V., Jacobson, Samuel G., Beltran, William A., Sumaroka, Alexander, Swider, Malgorzata, Iwabe, Simone, Roman, Alejandro J., Olivares, Melani B., Schwartz, Sharon B., Komáromy, András M., Hauswirth, William W., Aguirre, Gustavo D.

“…Leber congenital amaurosis (LCA) associated with retinal pigment epithelium-specific protein 65 kDa (RPE65) mutations is a severe hereditary blindness…”
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Toenail onychomycosis: an important global disease burden by Thomas, J., Jacobson, G. A., Narkowicz, C. K., Peterson, G. M., Burnet, H., Sharpe, C.

“…Summary Onychomycosis is a fungal infection of the nail plate or nail bed. It does not usually cure itself and it can trigger more infectious lesions in other…”
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Full-field stimulus testing: Role in the clinic and as an outcome measure in clinical trials of severe childhood retinal disease by Roman, Alejandro J., Cideciyan, Artur V., Wu, Vivian, Garafalo, Alexandra V., Jacobson, Samuel G.

“…Disease mechanisms have become better understood in previously incurable forms of early-onset severe retinal dystrophy, such as Leber congenital amaurosis…”
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Predeployment Sleep Duration and Insomnia Symptoms as Risk Factors for New-Onset Mental Health Disorders Following Military Deployment by Gehrman, Philip, Seelig, Amber D, Jacobson, Isabel G, Boyko, Edward J, Hooper, Tomoko I, Gackstetter, Gary D, Ulmer, Christi S, Smith, Tyler C

“…To evaluate predeployment sleep duration and insomnia symptoms in relation to the development of mental health symptoms. Longitudinal cohort study. The…”
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Canine retina has a primate fovea-like bouquet of cone photoreceptors which is affected by inherited macular degenerations by Beltran, William A, Cideciyan, Artur V, Guziewicz, Karina E, Iwabe, Simone, Swider, Malgorzata, Scott, Erin M, Savina, Svetlana V, Ruthel, Gordon, Stefano, Frank, Zhang, Lingli, Zorger, Richard, Sumaroka, Alexander, Jacobson, Samuel G, Aguirre, Gustavo D

“…Retinal areas of specialization confer vertebrates with the ability to scrutinize corresponding regions of their visual field with greater resolution. A highly…”
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Probing Mechanisms of Photoreceptor Degeneration in a New Mouse Model of the Common Form of Autosomal Dominant Retinitis Pigmentosa due to P23H Opsin Mutations by Sakami, Sanae, Maeda, Tadao, Bereta, Grzegorz, Okano, Kiichiro, Golczak, Marcin, Sumaroka, Alexander, Roman, Alejandro J., Cideciyan, Artur V., Jacobson, Samuel G., Palczewski, Krzysztof

“…Rhodopsin, the visual pigment mediating vision under dim light, is composed of the apoprotein opsin and the chromophore ligand 11-cis-retinal. A P23H mutation…”
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The caloric irrigation test by Shepard, N T, Jacobson, G P

“…The test of caloric thermal irrigations is one of the first tests for sensitivity of the peripheral vestibular systems dating to the late 1800s. This chapter…”
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Visual Function and Central Retinal Structure in Choroideremia by Heon, Elise, Alabduljalil, Talal, McGuigan III, David B, Cideciyan, Artur V, Li, Shuning, Chen, Shiyi, Jacobson, Samuel G

“…To define the clinical phenotype of a cohort of patients affected with choroideremia. A retrospective study of patients with choroideremia included two…”
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In Vitro Modeling Using Ciliopathy-Patient-Derived Cells Reveals Distinct Cilia Dysfunctions Caused by CEP290 Mutations by Shimada, Hiroko, Lu, Quanlong, Insinna-Kettenhofen, Christine, Nagashima, Kunio, English, Milton A., Semler, Elizabeth M., Mahgerefteh, Jacklyn, Cideciyan, Artur V., Li, Tiansen, Brooks, Brian P., Gunay-Aygun, Meral, Jacobson, Samuel G., Cogliati, Tiziana, Westlake, Christopher J., Swaroop, Anand

“…Mutations in CEP290, a transition zone protein in primary cilia, cause diverse ciliopathies, including Leber congenital amaurosis (LCA) and Joubert-syndrome…”
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Magnitude of problematic anger and its predictors in the Millennium Cohort by Adler, Amy B, LeardMann, Cynthia A, Roenfeldt, Kimberly A, Jacobson, Isabel G, Forbes, David

“…Abstract Background Problematic anger is intense anger associated with elevated generalized distress and that interferes with functioning. It also confers a…”
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Exome sequencing and analysis of induced pluripotent stem cells identify the cilia-related gene male germ cell-associated kinase (MAK) as a cause of retinitis pigmentosa by Tucker, Budd A, Scheetz, Todd E, Mullins, Robert F, DeLuca, Adam P, Hoffmann, Jeremy M, Johnston, Rebecca M, Jacobson, Samuel G, Sheffield, Val C, Stone, Edwin M

“…Retinitis pigmentosa (RP) is a genetically heterogeneous heritable disease characterized by apoptotic death of photoreceptor cells. We used exome sequencing to…”
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A G86R mutation in the calcium-sensor protein GCAP1 alters regulation of retinal guanylyl cyclase and causes dominant cone-rod degeneration by Peshenko, Igor V., Cideciyan, Artur V., Sumaroka, Alexander, Olshevskaya, Elena V., Scholten, Alexander, Abbas, Seher, Koch, Karl-Wilhelm, Jacobson, Samuel G., Dizhoor, Alexander M.

“…The guanylyl cyclase-activating protein, GCAP1, activates photoreceptor membrane guanylyl cyclase (RetGC) in the light, when free Ca2+ concentrations decline,…”
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Human gene therapy for RPE65 isomerase deficiency activates the retinoid cycle of vision but with slow rod kinetics by Cideciyan, Artur V, Aleman, Tomas S, Boye, Sanford L, Schwartz, Sharon B, Kaushal, Shalesh, Roman, Alejandro J, Pang, Ji-jing, Sumaroka, Alexander, Windsor, Elizabeth A.M, Wilson, James M, Flotte, Terence R, Fishman, Gerald A, Heon, Elise, Stone, Edwin M, Byrne, Barry J, Jacobson, Samuel G, Hauswirth, William W

“…The RPE65 gene encodes the isomerase of the retinoid cycle, the enzymatic pathway that underlies mammalian vision. Mutations in RPE65 disrupt the retinoid…”
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NTFP income contribution to household economy and related socio-economic factors: Lessons from Bangladesh by Kar, Shiba P., Jacobson, Michael G.

“…Exploring extent and pattern of non-timber forest product (NTFP) income contribution to livelihoods of forest-adjacent people and the income related…”
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Gene therapy rescues photoreceptor blindness in dogs and paves the way for treating human X-linked retinitis pigmentosa by Beltran, William A., Cideciyan, Artur V., Lewin, Alfred S., Iwabe, Simone, Khanna, Hemant, Sumaroka, Alexander, Chiodo, Vince A., Fajardo, Diego S., Román, Alejandro J., Deng, Wen-Tao, Swider, Malgorzata, Alemán, Tomas S., Boye, Sanford L., Genini, Sem, Swaroop, Anand, Hauswirth, William W., Jacobson, Samuel G., Aguirre, Gustavo D.

“…Hereditary retinal blindness is caused by mutations in genes expressed in photoreceptors or retinal pigment epithelium. Gene therapy in mouse and dog models of…”
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Non-exomic and synonymous variants in ABCA4 are an important cause of Stargardt disease by Braun, Terry A, Mullins, Robert F, Wagner, Alex H, Andorf, Jeaneen L, Johnston, Rebecca M, Bakall, Benjamin B, Deluca, Adam P, Fishman, Gerald A, Lam, Byron L, Weleber, Richard G, Cideciyan, Artur V, Jacobson, Samuel G, Sheffield, Val C, Tucker, Budd A, Stone, Edwin M

“…Mutations in ABCA4 cause Stargardt disease and other blinding autosomal recessive retinal disorders. However, sequencing of the complete coding sequence in…”
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Gene therapy reforms photoreceptor structure and restores vision in NPHP5-associated Leber congenital amaurosis by Aguirre, Gustavo D., Cideciyan, Artur V., Dufour, Valérie L., Ripolles-García, Ana, Sudharsan, Raghavi, Swider, Malgorzata, Nikonov, Roman, Iwabe, Simone, Boye, Sanford L., Hauswirth, William W., Jacobson, Samuel G., Beltran, William A.

“…The inherited childhood blindness caused by mutations in NPHP5, a form of Leber congenital amaurosis, results in abnormal development, dysfunction, and…”
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