Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Christine Insinna Kettenhofen"'
Autor:
Helen Louise May-Simera, Qin Wan, Balendu Shekhar Jha, Juliet Hartford, Vladimir Khristov, Roba Dejene, Justin Chang, Sarita Patnaik, Quanlong Lu, Poulomi Banerjee, Jason Silver, Christine Insinna-Kettenhofen, Dishita Patel, Mostafa Lotfi, May Malicdan, Nathan Hotaling, Arvydas Maminishkis, Rupa Sridharan, Brian Brooks, Kiyoharu Miyagishima, Meral Gunay-Aygun, Rajarshi Pal, Christopher Westlake, Sheldon Miller, Ruchi Sharma, Kapil Bharti
Publikováno v:
Cell Reports, Vol 22, Iss 1, Pp 189-205 (2018)
Summary: Primary cilia are sensory organelles that protrude from the cell membrane. Defects in the primary cilium cause ciliopathy disorders, with retinal degeneration as a prominent phenotype. Here, we demonstrate that the retinal pigment epithelium
Externí odkaz:
https://doaj.org/article/bfaae5556aaf4f70affe565c4099f9ee
Autor:
Hiroko Shimada, Quanlong Lu, Christine Insinna-Kettenhofen, Kunio Nagashima, Milton A. English, Elizabeth M. Semler, Jacklyn Mahgerefteh, Artur V. Cideciyan, Tiansen Li, Brian P. Brooks, Meral Gunay-Aygun, Samuel G. Jacobson, Tiziana Cogliati, Christopher J. Westlake, Anand Swaroop
Publikováno v:
Cell Reports, Vol 20, Iss 2, Pp 384-396 (2017)
Mutations in CEP290, a transition zone protein in primary cilia, cause diverse ciliopathies, including Leber congenital amaurosis (LCA) and Joubert-syndrome and related disorders (JSRD). We examined cilia biogenesis and function in cells derived from
Externí odkaz:
https://doaj.org/article/7871d566c1dd4481b15cfbb020326265
Autor:
Vladimir Khristov, Ruchi Sharma, Balendu Shekhar Jha, Christine Insinna-Kettenhofen, Sarita Rani Patnaik, Justin Chang, Brian P. Brooks, Sheldon S. Miller, Kapil Bharti, Arvydas Maminishkis, Helen May-Simera, Meral Gunay-Aygun, Jason S. Silver, May Christine V. Malicdan, Rajarshi Pal, Christopher J. Westlake, Kiyoharu J. Miyagishima, Mostafa Reza Lotfi, Rupa Sridharan, Quanlong Lu, Poulomi Banerjee, Nathan Hotaling, Juliet Hartford, Qin Wan, Dishita Patel, Roba Dejene
Publikováno v:
Cell Reports, Vol 22, Iss 1, Pp 189-205 (2018)
Cell reports
Cell reports
SUMMARY Primary cilia are sensory organelles that protrude from the cell membrane. Defects in the primary cilium cause ciliopathy disorders, with retinal degeneration as a prominent phenotype. Here, we demonstrate that the retinal pigment epithelium
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::83c774b760ad4778bc6205247b85fcf4
http://www.sciencedirect.com/science/article/pii/S2211124717318478
http://www.sciencedirect.com/science/article/pii/S2211124717318478
Autor:
Meral Gunay-Aygun, Hiroko Shimada, Christopher J. Westlake, Artur V. Cideciyan, Milton A. English, Kunio Nagashima, Tiansen Li, Anand Swaroop, Quanlong Lu, Brian P. Brooks, Christine Insinna-Kettenhofen, Elizabeth M. Semler, Samuel G. Jacobson, Tiziana Cogliati, Jacklyn Mahgerefteh
Publikováno v:
Cell Reports, Vol 20, Iss 2, Pp 384-396 (2017)
Mutations in CEP290, a transition zone protein in primary cilia, cause diverse ciliopathies, including Leber congenital amaurosis (LCA) and Joubert-syndrome and related disorders (JSRD). We examined cilia biogenesis and function in cells derived from
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fd613ec86ac5d639be83bfc56b39b754
https://doi.org/10.1016/j.celrep.2017.06.045
https://doi.org/10.1016/j.celrep.2017.06.045
Autor:
Juliet Hartford, Meral Gunay-Aygun, Kapil Bharti, Kiyoharu Miyagishima, Christopher Westlake, Dishita Patel, Nathan Hotaling, Sheldon S. Miller, Sarita Rani Patnaik, Roba Dejene, May Christine V. Malicdan, Jason Silver, Rajarshi Pal, Justin Chang, Quanlong Lu, Christine Insinna-Kettenhofen, Rupa Sridharan, Balendu Shekhar Jha, Qin Wan, Vladimir Khristov, Mostafa Lotfi, Brian Brooks, Poulomi Banerjee, Ruchi Sharma, Helen May-Simera, Arvydas Maminishkis
Publikováno v:
SSRN Electronic Journal.
Primary cilia are sensory organelles that protrude from the cell membrane. Cilia defects cause ciliopathy disorders with retinal degeneration as a prominent phenotype. Here, we demonstrate that the retinal pigment epithelium (RPE), essential for phot
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7e28b7e30c9e26600d1cbb564b541393
https://doi.org/10.2139/ssrn.3155914
https://doi.org/10.2139/ssrn.3155914
Autor:
Robert N. Weinreb, Alexander G. Obukhov, Clark D. Wells, Karen M. Joos, Yang Sun, Carlo Iomini, Christine Insinna Kettenhofen, Na Luo, Michael Conwell, Dan F. Spandau, Timothy W. Corson, Christopher J. Westlake, Louis B. Cantor, Xingjuan Chen
Publikováno v:
Proceedings of the National Academy of Sciences of the United States of America, vol 111, iss 35
Lowe syndrome is a rare X-linked congenital disease that presents with congenital cataracts and glaucoma, as well as renal and cerebral dysfunction. OCRL, an inositol polyphosphate 5-phosphatase, is mutated in Lowe syndrome. We previously showed that
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::77cf9f2b795b5e29b4aa40d825ce5c08
https://doi.org/10.1073/pnas.1323292111
https://doi.org/10.1073/pnas.1323292111