Results 41 to 50 of about 19,020 (198)

Congenital Aniridia: Exploring Visual Disabling Manifestations in the Ocular Surface and Ocular Fundus through Clinical and Translational Approaches

, 2020
Congenital aniridia is primarily characterized by hypoplasia of the iris and the retinal fovea. Foveal hypoplasia is the main cause of congenital reduced vision. Keratopathy is common in aniridia, leading to considerable visual impairment.
Landsend, Erlend Christoffer Sommer
core   +1 more source

Comprehensive Analysis of Congenital Aniridia and Differential Diagnoses: Genetic Insights and Clinical Manifestations

Ophthalmology and Therapy
Introduction Congenital aniridia (CA) is a severe and complex disorder involving the entire eye, primarily characterized by iris anomalies alongside other clinical features that pose significant risks to vision.
Jonathan Hall, Marta Corton, Fabian Norbert Fries, Jessica Obst, Clara Grünauer-Kloevekorn, Berthold Seitz, Maria della Volpe Waizel, Eszter Jávorszky, Kálmán Tory, Erika Maka, Maryam Amini, Shweta Suiwal, Tanja Stachon, Nóra Szentmáry   +13 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  

Restoration of functional PAX6 in aniridia patient iPSC-derived ocular tissue models using repurposed nonsense suppression drugs

Molecular Therapy: Nucleic Acids, 2023
Congenital aniridia is a rare, pan-ocular disease causing severe sight loss, with only symptomatic intervention offered to patients. Approximately 40% of aniridia patients present with heterozygous nonsense variants in PAX6, resulting in ...
Dulce Lima Cunha, Hajrah Sarkar, Jonathan Eintracht, Philippa Harding, Jo Huiqing Zhou, Mariya Moosajee   +5 more
doaj   +1 more source

Monogenic and syndromic obesity in children: Clinical recognition, genetics, and precision management

Pediatric Investigation, Volume 10, Issue 4, Page 333-344, August 2026.
Monogenic and syndromic obesity in children often arises from defects in the leptin–melanocortin pathway. Understanding these rare genetic causes not only clarifies mechanisms of appetite regulation but also enables precision therapies, offering hope beyond lifestyle interventions.
Hadel Khalil, Eugene Feigin, Hussein Zaitoon   +2 more
wiley   +1 more source

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

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

mRNA and microRNA Expression Profile of Corneal and Conjunctival Impression Cytology Samples

Biology
Purpose: To characterize the messenger RNA (mRNA) and microRNA (miRNA) expression profiles of the normal human cornea and conjunctiva using impression cytology (IC) samples and to investigate their molecular characteristics and regulatory networks ...
Shuailin Li, Tanja Stachon, Fabian Norbert Fries, Berthold Seitz, Nicole Ludwig, Nóra Szentmáry   +5 more
doaj   +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

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