Zobrazeno 1 - 10
of 263
pro vyhledávání: '"Paul A Sieving"'
Autor:
Pooja Biswas, Adda L Villanueva, Angel Soto-Hermida, Jacque L Duncan, Hiroko Matsui, Shyamanga Borooah, Berzhan Kurmanov, Gabriele Richard, Shahid Y Khan, Kari Branham, Bonnie Huang, John Suk, Benjamin Bakall, Jeffrey L Goldberg, Luis Gabriel, Naheed W Khan, Pongali B Raghavendra, Jason Zhou, Sindhu Devalaraja, Andrew Huynh, Akhila Alapati, Qais Zawaydeh, Richard G Weleber, John R Heckenlively, J Fielding Hejtmancik, Sheikh Riazuddin, Paul A Sieving, S Amer Riazuddin, Kelly A Frazer, Radha Ayyagari
Publikováno v:
PLoS Genetics, Vol 17, Iss 10, p e1009848 (2021)
Patients with inherited retinal dystrophies (IRDs) were recruited from two understudied populations: Mexico and Pakistan as well as a third well-studied population of European Americans to define the genetic architecture of IRD by performing whole-ge
Externí odkaz:
https://doaj.org/article/100510e296874924a61b4222d50d1e2c
Autor:
Lin Li, Xiaodong Jiao, Ilaria D'Atri, Fumihito Ono, Ralph Nelson, Chi-Chao Chan, Naoki Nakaya, Zhiwei Ma, Yan Ma, Xiaoying Cai, Longhua Zhang, Siying Lin, Abdul Hameed, Barry A Chioza, Holly Hardy, Gavin Arno, Sarah Hull, Muhammad Imran Khan, James Fasham, Gaurav V Harlalka, Michel Michaelides, Anthony T Moore, Zeynep Hande Coban Akdemir, Shalini Jhangiani, James R Lupski, Frans P M Cremers, Raheel Qamar, Ahmed Salman, John Chilton, Jay Self, Radha Ayyagari, Firoz Kabir, Muhammad Asif Naeem, Muhammad Ali, Javed Akram, Paul A Sieving, Sheikh Riazuddin, Emma L Baple, S Amer Riazuddin, Andrew H Crosby, J Fielding Hejtmancik
Publikováno v:
PLoS Genetics, Vol 14, Iss 8, p e1007504 (2018)
We identified a homozygous missense alteration (c.75C>A, p.D25E) in CLCC1, encoding a presumptive intracellular chloride channel highly expressed in the retina, associated with autosomal recessive retinitis pigmentosa (arRP) in eight consanguineous f
Externí odkaz:
https://doaj.org/article/baf42b0095e24ebeabdac8b3ae0ecd02
Autor:
Dario Marangoni, Ronald A Bush, Yong Zeng, Lisa L Wei, Lucia Ziccardi, Camasamudram Vijayasarathy, Joshua T Bartoe, Kiran Palyada, Maria Santos, Suja Hiriyanna, Zhijian Wu, Peter Colosi, Paul A Sieving
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 3, Iss C (2016)
X-linked retinoschisis (XLRS) is a retinal disease caused by mutations in the gene encoding the protein retinoschisin (RS1) and is one of the most common causes of macular degeneration in young men. Our therapeutic approach for XLRS is based on the a
Externí odkaz:
https://doaj.org/article/d12423b92da7482e94dd5d7f9b61fe78
Autor:
Catherine Cukras, Terry Gaasterland, Pauline Lee, Harini V Gudiseva, Venkata R M Chavali, Raghu Pullakhandam, Bruno Maranhao, Lee Edsall, Sandra Soares, G Bhanuprakash Reddy, Paul A Sieving, Radha Ayyagari
Publikováno v:
PLoS ONE, Vol 7, Iss 11, p e50205 (2012)
Retinitis Pigmentosa (RP) is a common form of retinal degeneration characterized by photoreceptor degeneration and retinal pigment epithelium (RPE) atrophy causing loss of visual field and acuities. Exome sequencing identified a novel homozygous spli
Externí odkaz:
https://doaj.org/article/725666e23d8f49ff9fac916503b6c065
Autor:
Azamat Aslanukov, Reshma Bhowmick, Mallikarjuna Guruju, John Oswald, Dorit Raz, Ronald A Bush, Paul A Sieving, Xinrong Lu, Cheryl B Bock, Paulo A Ferreira
Publikováno v:
PLoS Genetics, Vol 2, Iss 10, p e177 (2006)
The Ran-binding protein 2 (RanBP2) is a large multimodular and pleiotropic protein. Several molecular partners with distinct functions interacting specifically with selective modules of RanBP2 have been identified. Yet, the significance of these inte
Externí odkaz:
https://doaj.org/article/284655844e964ef498b59fd9222a7f99
Autor:
Yong Zeng, Shasha Gao, Yichao Li, Dario Marangoni, Tharindu De Silva, Wai T. Wong, Emily Y. Chew, Xun Sun, Tiansen Li, Paul A. Sieving, Haohua Qian
Publikováno v:
Bioengineering, Vol 11, Iss 5, p 449 (2024)
Optical coherence tomography (OCT) is widely used to probe retinal structure and function. This study investigated the outer retina band (ORB) pattern and reflective intensity for the region between bands 2 and 3 (Dip) in three mouse models of inheri
Externí odkaz:
https://doaj.org/article/f03fe0017b6b4d25b49be8d7ecd9e453
Autor:
Camiel J. F. Boon, Julie De Zaeytijd, Mary J. van Schooneveld, Maria M. van Genderen, Ralph J. Florijn, Bart P. Leroy, Carel B. Hoyng, Paul A. Sieving, Alberta A H J Thiadens, Sophie Walraedt, Jeannette Ossewaarde-van Norel, Magda A. Meester-Smoor, Leo C. Hahn, Birgit I. Lissenberg-Witte, Arthur A.B. Bergen, Jacoline B. ten Brink, Elfride De Baere, Nieneke L. Wesseling, Caroline Van Cauwenbergh, Caroline C W Klaver, Roselie M. Diederen, L. Ingeborgh van den Born, Ine Strubbe
Publikováno v:
Ophthalmology. 129:191-202
Purpose To describe the natural course, phenotype and genotype of patients with X-linked retinoschisis (XLRS). Design Retrospective cohort study. Participants Three hundred forty patients with XLRS from 178 presumably unrelated families. Methods This
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d8661214be1e867291fdfeec52da7f04
https://doi.org/10.1016/j.ophtha.2021.09.021
https://doi.org/10.1016/j.ophtha.2021.09.021
Autor:
Tzu-Ni Sin, Sangbae Kim, Yumei Li, Jun Wang, Rui Chen, Sook Hyun Chung, Soohyun Kim, M. Isabel Casanova, Sangwan Park, Zeljka Smit-McBride, Ning Sun, Ori Pomerantz, Jeffrey A. Roberts, Bin Guan, Robert B. Hufnagel, Ala Moshiri, Sara M. Thomasy, Paul A. Sieving, Glenn Yiu
Publikováno v:
Investigative ophthalmology & visual science, vol 64, iss 1
PurposeFoveoschisis involves the pathologic splitting of retinal layers at the fovea, which may occur congenitally in X-linked retinoschisis (XLRS) or as an acquired complication of myopia. XLRS is attributed to functional loss of the retinal adhesio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::09bd4ac56d94203667e046faa22a1dd4
https://escholarship.org/uc/item/3xz196xw
https://escholarship.org/uc/item/3xz196xw
Autor:
Haohua Qian, Paul A. Sieving, Camasamudram Vijayasarathy, Yichao Li, Maria M Campos, Yong Zeng
Publikováno v:
Gene Therapy. 29:431-440
Animal models of X-linked juvenile retinoschisis (XLRS) are valuable tools for understanding basic biochemical function of retinoschisin (RS1) protein and to investigate outcomes of preclinical efficacy and toxicity studies. In order to work with an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f7ceb56aca0783e2deceb02c5f6f695d
https://doi.org/10.1038/s41434-021-00290-6
https://doi.org/10.1038/s41434-021-00290-6
Autor:
Camasamudram Vijayasarathy, Yong Zeng, Dario Marangoni, Lijin Dong, Zhuo-Hua Pan, Elizabeth M. Simpson, Robert N. Fariss, Paul A. Sieving
Publikováno v:
Investigative ophthalmology & visual science, vol 63, iss 11
PurposeLoss of retinoschisin (RS1) function underlies X-linked retinoschisis (XLRS) pathology. In the retina, both photoreceptor inner segments and bipolar cells express RS1. However, the loss of RS1 function causes schisis primarily in the inner ret
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9b490931997a78774f2eae794406f4ac
https://escholarship.org/uc/item/78q6t7m5
https://escholarship.org/uc/item/78q6t7m5