Results 81 to 90 of about 25,639 (292)

An attempt to optimize the outcome of penetrating keratoplasty in congenital aniridia-associated keratopathy (AAK)

International ophtalmology, 2021
To propose an optimized microsurgical and medical approach to reduce the risk of complications after penetrating keratoplasty (PKP) in patients with aniridia-associated keratopathy (AAK).
C. J. Farah, F. Fries, L. Latta, B. Käsmann-Kellner, B. Seitz   +4 more
semanticscholar   +1 more source

Examination of the Corneal Endothelium in Patients With Congenital Aniridia With a PAX6 Mutation Using In Vivo Confocal Laser Scanning Microscopy

Cornea
Purpose: In PAX6 syndrome, it is still not clear, whether prenatally, parallel to the iris tissue developmental anomaly, there is neural ectodermal, neural crest, or mesodermal cell deposition at the corneal endothelium, affecting endothelial structure ...
M. Csidey, A. Csorba, Kitti Kormányos, A. Náray, Klaudia Kéki-Kovács, Orsolya Németh, K. Knézy, M. Bausz, Andrea Szigeti, Dorottya Szabó, Marta Cortón, K. Tory, E. Jávorszky, Z. Z. Nagy, E. Maka, A. Langenbucher, Karsten Sperlich, O. Stachs, Karsten Winter, N. Szentmáry   +19 more
semanticscholar   +1 more source

Identification of a novel frameshift mutation in PAX6 gene and the clinical management in an Asian Indian aniridia family

Indian Journal of Ophthalmology, 2018
Purpose: This study aimed to characterize an Asian Indian aniridia family for both the phenotype and genotype of the disease for a better clinical management.
Isham Palayil, S G Priya, N V Sarath Sivan, Nivean Madhivanan, Panneer Selvam Venkatachalam, Madhavan Jagadeesan   +5 more
doaj   +1 more source

A Case of Autosomal Dominant Bilateral Familial Aniridia

GAIMS Journal of Medical Sciences, 2021
Aniridia is a familial or sporadic disorder affecting not only the iris but also the cornea, angle structures, lens, optic nerve, and fovea. This disorder may be associated with many other systemic abnormalities such as urogenital malignancies. We report
Kinjal Mehta, Nikhil Rupala, Kavita Shah
doaj   +1 more source

Statename Ladders [PDF]

, 2019
Creating word ladders out of US state ...
Francis, Darryl
core   +1 more source

Sequencing of Pax6 loci from the elephant shark reveals a family of Pax6 genes in vertebrate genomes, forged by ancient duplications and divergences [PDF]

, 2013
Pax6 is a developmental control gene essential for eye development throughout the animal kingdom. In addition, Pax6 plays key roles in other parts of the CNS, olfactory system, and pancreas.
A Christoffels, A Force, A Schedl, Alice Tay, B Ewing, B Kammandel, B Prud'homme, B Venkatesh, B Venkatesh, Boon-Hui Tay, Byrappa Venkatesh, C Griffin, C Miles, C Thisse, CB Kimmel, CC Ton, D Gordon, DA Kleinjan, DA Kleinjan, DA Kleinjan, DA Kleinjan, DA Kleinjan, DE Bamiou, Dirk A. Kleinjan, DM McGaughey, DO Robinson, E Birney, Emma Murdoch, F Loosli, Felix Loosli, G Elgar, G Halder, GK McEwen, H Kikuta, Harmit S. Malik, HN Cinar, I Mikkola, I Tzoulaki, J Fantes, J Graw, J Kim, J Kim, J Lakowski, J Postlethwait, J Sharpe, J Wang, JA Crolla, JA Epstein, JD Lauderdale, JS Taylor, K Kawakami, K Tamura, KA Frazer, LZ Holland, M Brudno, M Dominguez, M Lynch, M Nei, MA Larkin, N Haubst, N Osumi, N Saitou, O Kohany, P Blader, P Callaerts, P Dehal, P Navratilova, P Rice, Pedro Coutinho, Philippe Gautier, PX Xu, R Quiring, RD Page, RE Hill, S Fisher, S Fisher, S Hoegg, S Nornes, S Plaza, S Schwartz, SA Chanas, SB Carroll, SF Altschul, Shipra Bhatia, SM Sisodiya, Sydney Brenner, T Czerny, T Glaser, T Matsuo, T Yasuda, TI Simpson, TS Mikkelsen, VE Prince, Veronica van Heyningen, Vydianathan Ravi, WJ Gehring, WJ Gehring   +96 more
core   +3 more sources

Identification of missense MAB21L1 variants in microphthalmia and aniridia

Human Mutation, 2021
Microphthalmia, coloboma, and aniridia are congenital ocular phenotypes with a strong genetic component but often unknown cause. We present a likely causative novel variant in MAB21L1, c.152G>T p.(Arg51Leu), in two family members with microphthalmia and ...
Sarah E. Seese, L. Reis, Brett Deml, C. Griffith, A. Reich, R. Jamieson, E. Semina   +6 more
semanticscholar   +1 more source

The Homeobox Genes: Classification, Regulation, Biological Functions, and Diseases

MedComm, Volume 7, Issue 4, April 2026.
Overview of the homeobox gene superfamily and its pathophysiological roles. The homeobox superfamily comprises several major classes, including ANTP, PRD, TALE, LIM, POU, and others. Among these, the HOX clusters (A–D) play critical roles in embryonic development specifically in conferring cellular identity, regulating morphogenesis, and guiding axial ...
Maedeh Dadzadi, Shahin Ramazi, Mona Darvazi, Sepideh Yoosefi, Melika Abbasi, Shirin Farsad   +5 more
wiley   +1 more source

Expression of the Wilms' tumor gene WT1 in human malignant mesothelioma cell lines and relationship to platelet-derived growth factor A and insulin- like growth factor 2 expression [PDF]

, 1995
Mutations in the WT1 tumor suppressor gene are known to contribute to the development of Wilms' tumor (WT) and associated gonadal abnormalities. WT1 is expressed principally in the fetal kidney, developing gonads, and spleen and also in the mesothelium ...
Hagemeijer, A. (Anne), Hastie, N. (Nick), Langerak, A.W. (Anton), Miyagawa, K. (K.), Versnel, M.A. (Marjan), Williamson, K.A. (K.)   +5 more
core   +6 more sources

Genetic analysis using next-generation sequencing and multiplex ligation probe amplification in Chinese aniridia patients

Orphanet Journal of Rare Diseases
Background Congenital aniridia is a rare pan-ocular disease characterized by complete irideremia, partial iridocoloboma. The progressive nature of aniridia is frequently accompanied by secondary ocular complications such as glaucoma and aniridia ...
Li Wang, Qingdan Xu, Wentao Wang, Xinghuai Sun, Yuhong Chen   +4 more
doaj   +1 more source