Results 51 to 60 of about 17,913 (203)

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

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 novel microdeletion of 517 kb downstream of the PAX6 gene in a Chinese family with congenital aniridia

BMC Ophthalmology, 2023
Background To identify the disease-causing gene in a Chinese family affected with congenital aniridia. Methods Patients underwent systematic ophthalmic examinations such as anterior segment photography, fundus photography, optical coherence tomography ...
Yinwen Li, Jieqiong Chen, Ying Zheng, Zhixuan Chen, Tao Wang, Qian Sun, Xiaoling Wan, Haiyun Liu, Xiaodong Sun   +8 more
doaj   +1 more source

Congenital aniridia- there's more than meets the eye

TNOA Journal of Ophthalmic Science and Research, 2021
Congenital aniridia is a rare panocular disorder, leading to significant visual impairment which may present as an isolated ocular phenotype or in association with a systemic syndrome.
G N Subathra, Indira Durai, Sahithya Bhaskaran   +2 more
doaj   +1 more source

Survival for Children Diagnosed With Wilms Tumour (2012–2022) Registered in the UK and Ireland Improving Population Outcomes for Renal Tumours of Childhood (IMPORT) Study

Pediatric Blood &Cancer, Volume 73, Issue 3, March 2026.
ABSTRACT Background The Improving Population Outcomes for Renal Tumours of childhood (IMPORT) is a prospective clinical observational study capturing detailed demographic and outcome data on children and young people diagnosed with renal tumours in the United Kingdom and the Republic of Ireland.
Naomi Ssenyonga, Angela Lopez‐Cortes, Reem Al‐Saadi, Suzanne Tugnait, Kristina Dzhuma, Catriona Duncan, Gordan Vujanic, Tanzina Chowdhury, Claudia Allemani, Michel P. Coleman, Kathy Pritchard‐Jones, the Children's Cancer and Leukaemia Group (CCLG) Renal Tumour Special Interest Group, Hugh Bishop, Anthony McCarthy, Pamela Kearns, Helen Rees, Amos Burke, Meriel Jenney, Jane Pears, Hamish Wallace, Milind Ronghe, Tanzina Chowdhury, Susan Picton, Emma Ross, Lisa Howell, Bernadette Brennan, Gail Halliday, Richard Grundy, Shaun Wilson, Sucheta Vaidya, Daniel Yeomanson, Jessica Bate, Vesna Pavasovic, Jessica Bate, Sabine Irtan, Jesper Brok, Minou Oostveen, Kristina Dzhuma, Mark Weeks, Richard Williams, Mark Powis, Max Pachl, Bruce Okoye, Naima Smeulders, Gordan Vujanic, Oystein Olsen, Tom Watson, Susan Shelmerdine, Dan Saunders, Angela Lopez-Cortes, Taryn Treger, Tom Jackson, Suzanne Tugnait, Lisa Howell, Tanzina Chowdhury, Sam Behjati, Angela Polanco   +56 more
wiley   +1 more source

Congenital aniridia patients experience on their visual impairment in Hungary An ANIRIDIA-NET survey

, 2023
Introduction: Aniridia is a rare congenital panocular disease associated with varying degrees of visual acuity impair-ment. Objective: To assess the experiences of congenital aniridia patients in Hungary, with visual impairment using a ques-tionnaire ...
Kitti, Kormanyos, Annamaria, Naray,, Orsolya, Nemeth,, Annamaria, Naray, Erika, Maka,, Dietmar, Hecker, Christina, Grupcheva, Erika, Maka, Kitti, Kormanyos,, Kalman, Tory,, Nora, Szentmary, Lagali, Neil, Tanja, Stachon, Maria, Csidey,, Dorottya, Szabo,, Zsolt, Nagy Zoltan, Krisztina, Knezy,, Klaudia, Keki-Kovacs,, Zsolt, Nagy Zoltan,, Maria, Csidey, Andrea, Szigeti, Anita, Csorba,, Andrea, Szigeti,, Marta, Corton,, Nora, Szentmary,, Klaudia, Keki-Kovacs, Orsolya, Nemeth, Tanja, Stachon,, Marta, Corton, Kalman, Tory, Krisztina, Knezy, Maria, Bausz, Dietmar, Hecker,, Anita, Csorba, Christina, Grupcheva,, Lagali, Neil,, Dorottya, Szabo, Maria, Bausz,   +37 more
core   +1 more source

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

A two‐step formula constant optimization strategy for minimal standard deviation and zero mean prediction error in IOL power calculation

Acta Ophthalmologica, Volume 104, Issue 2, Page 181-192, March 2026.
Abstract Purpose To investigate the precision and accuracy performance of a two‐step approach for optimizing lens formula constants (FC) with a refractive offset correction (RO) as a second tuning parameter. Methods Using IOLMaster 700 biometric data from 4 datasets (886/613/821/467 eyes treated with the Hoya Vivinex/Johnson&Johnson ZCB00/Alcon SA60AT ...
Achim Langenbucher, Nóra Szentmáry, Jascha Wendelstein, Alan Cayless, Peter Hoffmann, Damien Gatinel   +5 more
wiley   +1 more source

The genetic basis of previously unexplained aniridia [PDF]

Classical aniridia [MIM 106210] is a rare, panocular malformation characterised by a spectrum of iris and foveal hypoplasia, later complicated by cataracts, lens subluxation, glaucoma and keratopathy. It is overwhelmingly associated with PAX6 [MIM 607108]
Hall, Hildegard Nikki
core   +1 more source

Protein profiling of conjunctival impression cytology samples of aniridia subjects [PDF]

, 2023
Purpose: Congenital aniridia is a rare disease, which is in most cases related to PAX6 haploinsufficiency. Aniridia associated keratopathy (AAK) also belongs to ocular signs of congenital aniridia.
Yapar, Dalya, Käsmann-Kellner, Barbara, Stachon, Tanja, Meyer, Markus R., Szentmáry, Nóra, Latta, Lorenz, Fecher-Trost, Claudia, Fries, Fabian N., Seitz, Berthold   +8 more
core   +1 more source