Results 131 to 140 of about 25,639 (292)

Effects of miR-204-5p modulation on PAX6 regulation and corneal inflammation

Scientific Reports
Congenital aniridia is a rare eye disease characterized by loss of PAX6 protein leading to aniridia-associated keratopathy that significantly reduces vision.
Mojdeh Abbasi, Maryam Amini, Petros Moustardas, Quirin Gutsmiedl, Dina Javidjam, Shweta Suiwal, Berthold Seitz, Fabian N. Fries, Ava Dashti, Yedizza Rautavaara, Tanja Stachon, Nóra Szentmáry, Neil Lagali   +12 more
doaj   +1 more source

Altered Ocular Surface Temperature in Congenital Aniridia with PAX6 Pathogenic Variants: Impact of Age, Salzmann Nodules and Ocular Surgery

Life
PAX6 haploinsufficiency-related congenital aniridia is frequently associated with ocular surface disease, including meibomian gland dysfunction (MGD), dry eye, limbal stem cell deficiency (LSCD), aniridia-associated keratopathy (AAK), and inflammation ...
Orsolya Németh, Annamária Náray, Mária Csidey, Klaudia Kéki-Kovács, Krisztina Knézy, Mária Bausz, Andrea Szigeti, Anita Csorba, Kitti Kormányos, Ditta Zobor, Zoltán Zsolt Nagy, Marta Cortón, Eszter Jávorszky, Kálmán Tory, Erika Maka, Timo Eppig, Achim Langenbucher, Nóra Szentmáry   +17 more
doaj   +1 more source

Phenotypic variation in a four-generation family with aniridia carrying a novel PAX6 mutation [PDF]

, 2017
Grace M. Wang, Lev Prasov, Julia E. Richards, Brenda L. Bohnsack   +3 more
openalex   +1 more source

P-11 DMEK in cases with aphakia & aniridia. Three-year experience with the safety net technique [PDF]

, 2023
Alfonso Vasquez-Perez
openalex   +1 more source

New Perspectives on Eye Development and the Evolution of Eyes and Photoreceptors [PDF]

, 2017
Recent experiments on the genetic control of eye development have opened up a completely new perspective on eye evolution. The demonstration that targeted expression of one and the same master control gene, that is, Pax6 can induce the formation of ...
Gehring, W. J.
core  

Meibomian gland dysfunction and keratopathy are associated with dry eye disease in aniridia [PDF]

, 2018
Erlend Christoffer Sommer Landsend, Hilde R. Pedersen, Øygunn Aass Utheim, Jiaxin Xiao, Muhammed Yasin Adil, Behzod Tashbayev, Neil Lagali, Darlene A. Dartt, Rigmor C. Baraas, Tor Paaske Utheim   +9 more
openalex   +1 more source

Genetic Analysis of 'PAX6-Negative' Individuals with Aniridia or Gillespie Syndrome.

PLoS ONE, 2016
We report molecular genetic analysis of 42 affected individuals referred with a diagnosis of aniridia who previously screened as negative for intragenic PAX6 mutations.
Morad Ansari, Jacqueline Rainger, Isabel M Hanson, Kathleen A Williamson, Freddie Sharkey, Louise Harewood, Angela Sandilands, Jill Clayton-Smith, Helene Dollfus, Pierre Bitoun, Francoise Meire, Judy Fantes, Brunella Franco, Birgit Lorenz, David S Taylor, Fiona Stewart, Colin E Willoughby, Meriel McEntagart, Peng Tee Khaw, Carol Clericuzio, Lionel Van Maldergem, Denise Williams, Ruth Newbury-Ecob, Elias I Traboulsi, Eduardo D Silva, Mukhlis M Madlom, David R Goudie, Brian W Fleck, Dagmar Wieczorek, Juergen Kohlhase, Alice D McTrusty, Carol Gardiner, Christopher Yale, Anthony T Moore, Isabelle Russell-Eggitt, Lily Islam, Melissa Lees, Philip L Beales, Stephen J Tuft, Juan B Solano, Miranda Splitt, Jens Michael Hertz, Trine E Prescott, Deborah J Shears, Ken K Nischal, Martine Doco-Fenzy, Fabienne Prieur, I Karen Temple, Katherine L Lachlan, Giuseppe Damante, Danny A Morrison, Veronica van Heyningen, David R FitzPatrick   +52 more
doaj   +1 more source

Early phenotypic features of aniridia-associated keratopathy and association with PAX6 coding mutations.

The ocular surface, 2019
PURPOSE To investigate corneal phenotype in aniridia-associated keratopathy (AAK) including its earliest manifestations, in relation to PAX6 mutational status.
N. Lagali, B. Wowra, F. Fries, L. Latta, K. Moslemani, T. Utheim, E. Wylęgała, B. Seitz, B. Käsmann-Kellner   +8 more
semanticscholar   +1 more source

Molecular analysis of the PAX6 gene for aniridia and congenital cataracts in Tunisian families [PDF]

, 2014
Manèl Chograni, Kaouther Derouiche, Myriam Châabouni, I. Lariani, Habiba Chaabouni Bouhamed   +4 more
openalex   +1 more source

Aniridia and wilms's tumour (nephroblastoma). [PDF]

, 1968
T. F. Mackintosh, T. G. Girdwood, DC Parker, I M Strachan   +3 more
openalex   +1 more source