Zobrazeno 1 - 10
of 936
pro vyhledávání: '"Winston Lee"'
Autor:
Pei-Liang Wu, Pei-Hsuan Lin, Winston Lee, Ethan Hung-Hsi Wang, Eugene Yu-Chuan Kang, Laura Liu, Nan-Kai Wang
Publikováno v:
American Journal of Ophthalmology Case Reports, Vol 36, Iss , Pp 102094- (2024)
Purpose: Cone-rod dystrophies (CORD) are inherited retinal dystrophies characterized by primary cone degeneration with secondary rod involvement. We report two patients from the same family with a dominant variant in the guanylate cyclase 2D (GUCY2D)
Externí odkaz:
https://doaj.org/article/43287b412b3d44e28a593f7169965e8b
Autor:
Judith Chui Ching Wong, Martin Tay, Hapuarachchige Chanditha Hapuarachchi, Benjamin Lee, Gladys Yeo, Dzulkhairul Maliki, Winston Lee, Nur-Afidah Mohamed Suhaimi, Kaiyun Chio, Wilson Cheong Huat Tan, Lee Ching Ng
Publikováno v:
EBioMedicine, Vol 101, Iss , Pp 105020- (2024)
Summary: Background: In June 2023, a local cluster of 15 Zika cases was reported in a neighbourhood in Northeastern Singapore. The last significant local transmission of Zika virus (ZIKV) with more than 450 cases was in 2016–2017. To monitor the si
Externí odkaz:
https://doaj.org/article/f5556cbe33f744ccb1e75cd7a43dda04
Autor:
Rebekkah J. Hitti-Malin, Daan M. Panneman, Zelia Corradi, Erica G. M. Boonen, Galuh Astuti, Claire-Marie Dhaenens, Heidi Stöhr, Bernhard H. F. Weber, Dror Sharon, Eyal Banin, Marianthi Karali, Sandro Banfi, Tamar Ben-Yosef, Damjan Glavač, G. Jane Farrar, Carmen Ayuso, Petra Liskova, Lubica Dudakova, Marie Vajter, Monika Ołdak, Jacek P. Szaflik, Anna Matynia, Michael B. Gorin, Kati Kämpjärvi, Miriam Bauwens, Elfride De Baere, Carel B. Hoyng, Catherina H. Z. Li, Caroline C. W. Klaver, Chris F. Inglehearn, Kaoru Fujinami, Carlo Rivolta, Rando Allikmets, Jana Zernant, Winston Lee, Osvaldo L. Podhajcer, Ana Fakin, Jana Sajovic, Alaa AlTalbishi, Sandra Valeina, Gita Taurina, Andrea L. Vincent, Lisa Roberts, Raj Ramesar, Giovanna Sartor, Elena Luppi, Susan M. Downes, L. Ingeborgh van den Born, Terri L. McLaren, John N. De Roach, Tina M. Lamey, Jennifer A. Thompson, Fred K. Chen, Anna M. Tracewska, Smaragda Kamakari, Juliana Maria Ferraz Sallum, Hanno J. Bolz, Hülya Kayserili, Susanne Roosing, Frans P. M. Cremers
Publikováno v:
Biomolecules, Vol 14, Iss 3, p 367 (2024)
Inherited macular dystrophies (iMDs) are a group of genetic disorders, which affect the central region of the retina. To investigate the genetic basis of iMDs, we used single-molecule Molecular Inversion Probes to sequence 105 maculopathy-associated
Externí odkaz:
https://doaj.org/article/a59ac914048b4e7daf70faf03534c762
Autor:
Mythily Ganapathi, Amanda Thomas-Wilson, Christie Buchovecky, Avinash Dharmadhikari, Subit Barua, Winston Lee, Merry Z. C. Ruan, Megan Soucy, Sara Ragi, Joy Tanaka, Lorraine N. Clark, Ali B. Naini, Jun Liao, Mahesh Mansukhani, Stephen Tsang, Vaidehi Jobanputra
Publikováno v:
Scientific Reports, Vol 12, Iss 1, Pp 1-9 (2022)
Abstract Inherited retinal degenerations are clinically and genetically heterogeneous diseases characterized by progressive deterioration of vision. This study aimed at assessing the diagnostic yield of exome sequencing (ES) for an unselected cohort
Externí odkaz:
https://doaj.org/article/60c235675b5f4c62a81a925e0d5a5726
Autor:
Charlotte Gehin, Museer A. Lone, Winston Lee, Laura Capolupo, Sylvia Ho, Adekemi M. Adeyemi, Erica H. Gerkes, Alexander P.A. Stegmann, Estrella López-Martín, Eva Bermejo-Sánchez, Beatriz Martínez-Delgado, Christiane Zweier, Cornelia Kraus, Bernt Popp, Vincent Strehlow, Daniel Gräfe, Ina Knerr, Eppie R. Jones, Stefano Zamuner, Luciano A. Abriata, Vidya Kunnathully, Brandon E. Moeller, Anthony Vocat, Samuel Rommelaere, Jean-Philippe Bocquete, Evelyne Ruchti, Greta Limoni, Marine Van Campenhoudt, Samuel Bourgeat, Petra Henklein, Christian Gilissen, Bregje W. van Bon, Rolph Pfundt, Marjolein H. Willemsen, Jolanda H. Schieving, Emanuela Leonardi, Fiorenza Soli, Alessandra Murgia, Hui Guo, Qiumeng Zhang, Kun Xia, Christina R. Fagerberg, Christoph P. Beier, Martin J. Larsen, Irene Valenzuela, Paula Fernández-Álvarez, Shiyi Xiong, Robert Śmigiel, Vanesa López-González, Lluís Armengol, Manuela Morleo, Angelo Selicorni, Annalaura Torella, Moira Blyth, Nicola S. Cooper, Valerie Wilson, Renske Oegema, Yvan Herenger, Aurore Garde, Ange-Line Bruel, Frederic Tran Mau-Them, Alexis B.R. Maddocks, Jennifer M. Bain, Musadiq A. Bhat, Gregory Costain, Peter Kannu, Ashish Marwaha, Neena L. Champaigne, Michael J. Friez, Ellen B. Richardson, Vykuntaraju K. Gowda, Varunvenkat M. Srinivasan, Yask Gupta, Tze Y. Lim, Simone Sanna-Cherchi, Bruno Lemaitre, Toshiyuki Yamaji, Kentaro Hanada, John E. Burke, Ana Marjia Jakšić, Brian D. McCabe, Paolo De Los Rios, Thorsten Hornemann, Giovanni D’Angelo, Vincenzo A. Gennarino
Publikováno v:
The Journal of Clinical Investigation, Vol 133, Iss 10 (2023)
Neural differentiation, synaptic transmission, and action potential propagation depend on membrane sphingolipids, whose metabolism is tightly regulated. Mutations in the ceramide transporter CERT (CERT1), which is involved in sphingolipid biosynthesi
Externí odkaz:
https://doaj.org/article/47a113198d5649e88315ddec99f2067f
Autor:
Masha Kolesnikova, Jin Kyun Oh, Jiali Wang, Winston Lee, Jana Zernant, Pei-Yin Su, Angela H. Kim, Laura A. Jenny, Tingting Yang, Rando Allikmets, Stephen H. Tsang
Publikováno v:
JCI Insight, Vol 7, Iss 23 (2022)
Here, we describe affected members of a 2-generation family with a Stargardt disease–like phenotype caused by a 2–base pair deletion insertion, c.1014_1015delGAinsCT;p.(Trp338_Asn339delinsCysTyr), in BEST1. The variant was identified by whole-exo
Externí odkaz:
https://doaj.org/article/b1ea07fb114f4f45bb36d52b2774c97f
Autor:
Pei-Yin Su, Winston Lee, Jana Zernant, Stephen H. Tsang, Takayuki Nagasaki, Barbara Corneo, Rando Allikmets
Publikováno v:
Stem Cell Research, Vol 65, Iss , Pp 102973- (2022)
Pathogenic variation in the ABCA4 gene is the underlying cause of Stargardt disease, the most common inherited retinal degeneration. We established an induced pluripotent stem cell line for retinal organoid research from a patient with mild disease f
Externí odkaz:
https://doaj.org/article/3466a8aac76a4a1885d5099bcb0e51e1
Publikováno v:
STAR Protocols, Vol 3, Iss 3, Pp 101550- (2022)
Publishing a primary research article is typically the result of a collaborative effort between a variety of researchers across differing career stages. STAR Protocols can complement a research article and empower authors to share the expertise they
Externí odkaz:
https://doaj.org/article/3baa553cbfbb4cd88c6c7d88da5eb02e
Autor:
Nicola de Prisco, Salvatore Botta, Winston Lee, Sarallah Rezazadeh, Alexei Chemiakine, Vincenzo A. Gennarino
Publikováno v:
STAR Protocols, Vol 3, Iss 2, Pp 101232- (2022)
Summary: Quantifying differences in the amount of protein and mRNA caused by missense mutations in a gene of interest can be challenging, especially when using patient-derived primary cells, which are intrinsically variable. In this protocol, we desc
Externí odkaz:
https://doaj.org/article/35632fa920a548d4a0e2d9aa0ff46b77