Results 41 to 50 of about 17,913 (203)

Effect of Ritanserin and Duloxetine on the Gene Expression of Primary Aniridia and Healthy Human Limbal Stromal Cells, In Vitro

Ophthalmology and Therapy
Introduction In congenital aniridia caused by mutations in paired box 6 (PAX6), PAX6 influences the migration and differentiation of limbal epithelial cells (LECs), thereby playing a pivotal role in aniridia-associated keratopathy.
Zhen Li, Nóra Szentmáry, Fabian N. Fries, Shweta Suiwal, Ning Chai, Berthold Seitz, Lei Shi, Maryam Amini, Tanja Stachon   +8 more
doaj   +1 more source

Visual Acuity in Aniridia and WAGR Syndrome

Clinical Ophthalmology, 2023
Michael A Krause,1 Kelly L Trout,2 James D Lauderdale,3 Peter A Netland1 1Department of Ophthalmology, University of Virginia School of Medicine, Charlottesville, VA, USA; 2International WAGR Syndrome Association, Montgomery Village, MD, USA; 3Department
Krause MA, Trout KL, Lauderdale JD, Netland PA   +3 more
doaj  

A Novel Gain‐of‐Function ITPR1 Variant Associated With a Movement Disorder Characterized by Tremor and Dystonia

American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1261-1266, June 2026.
ABSTRACT The 1,4,5‐trisphosphate receptor type 1 (ITPR1) gene encodes an endoplasmic reticulum calcium release channel, in which loss‐of‐function mutations have been associated with spinocerebellar ataxias and related neurological phenotypes. Only one gain‐of‐function mutation in the highly conserved suppressor domain of ITPR1 has been previously ...
Emilie T. Théberge, Bo Sun, Ruiwu Wang, Arezoo Mohajeri, Clara D. M. Van Karnebeek, Cornelius F. Boerkoel, Stephanie Huynh, Gabriella Horvath, S. R. Wayne Chen, Anna Lehman   +9 more
wiley   +1 more source

Increased functional connectivity in intrinsic neural networks in individuals with aniridia

Frontiers in Human Neuroscience, 2014
Mutations affecting the PAX6 gene result in aniridia, a condition characterized by the lack of an iris and other panocular defects. Among humans with aniridia, structural abnormalities also have been reported within the brain.
Jordan Elisabeth Pierce, Cynthia E Krafft, Amanda L Rodrigue, Anastasia M Bobilev, James D. Lauderdale, James D. Lauderdale, Jennifer E McDowell, Jennifer E McDowell   +7 more
doaj   +1 more source

Bilateral Gonadoblastoma in a 12‐Year‐Old Girl 4 Years After Wilms' Tumor: A Rare Pediatric Case

Clinical Case Reports, Volume 14, Issue 6, June 2026.
ABSTRACT This case of a 12‐year‐old patient who developed bilateral gonadoblastoma 4 years after treatment for Wilms tumor highlights the importance of rigorous, risk‐adapted long‐term surveillance and careful evaluation of incidental gonadal findings, even in asymptomatic patients.
Ahmed Quraish, Hasan Khouli, Yousef Daraghmeh, Sultan Mosleh, Samer Bustame   +4 more
wiley   +1 more source

Mutation type‐specific transcriptomic signatures and readthrough therapy rescue in SMC1A‐related developmental and epileptic encephalopathy

Epilepsia, Volume 67, Issue 6, Page 3185-3198, June 2026.
Abstract Objective This study was undertaken to investigate the molecular consequences of pathogenic variants in the SMC1A gene—particularly those associated with developmental and epileptic encephalopathy (DEE85)—and to evaluate the therapeutic potential of ataluren in restoring SMC1A function and mitigating disease‐related transcriptomic and genomic ...
Maddalena Di Nardo, Francesca Sardina, Maria M. Pallotta, Iñigo Marcos‐Alcalde, Paulino Gómez‐Puertas, Cinzia Rinaldo, Ian D. Krantz, Antonio Musio   +7 more
wiley   +1 more source

Clinical Characteristics and Treatment of Ophthalmic Sequelae of Stevens–Johnson Syndrome and Toxic Epidermal Necrolysis at a Tertiary Eyecare Centre in Hungary

Ophthalmology and Therapy
Introduction This study analysed the causative factors and clinical characteristics of acute and chronic ocular sequelae of Stevens–Johnson syndrome and toxic epidermal necrolysis (SJS/TEN) treated at a large third-referral centre in a developed country (
Gábor Tóth, Andrea Lukács, Tanja Stachon, Frank Schirra, Gábor László Sándor, Zoltán Zsolt Nagy, Nóra Szentmáry   +6 more
doaj   +1 more source

A descriptive presentation of a family showing various features of aniridia and its genetic analysis

Kerala Journal of Ophthalmology, 2021
The abnormal neuroectodermal development due to the PAX 6 gene mutation results in aniridia, a rare disorder. We report herein a family that presented with aniridia, myopia, ptosis, glaucoma, cataract, and sensory nystagmus. This family provides a unique
Meenakshi Wadhwani, Manoj Kumar, Rima Dada   +2 more
doaj   +1 more source

Detection of a novel PAX6 variant in a Chinese family with multiple ocular abnormalities

BMC Ophthalmology, 2022
Background Aniridia is a congenital, panocular disease that can affect the cornea, anterior chamber angle, iris, lens, retina and optic nerve. PAX6 loss-of-function variants are the most common cause of aniridia, and variants throughout the gene have ...
Junyi Ouyang, Ziyan Cai, Yinjie Guo, Fen Nie, Mengdan Cao, Xuanchu Duan   +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