Results 51 to 60 of about 5,544 (177)

CoCl2-induced alterations in antioxidative and inflammatory marker expression in an siRNA-based in vitro model of aniridia-associated limbal epithelial dysfunction

BMC Ophthalmology
Background Congenital aniridia is a rare disease, accompanied by aniridia associated keratopathy (AAK) in most cases. Oxidative stress and inflammation are involved in the progression of AAK.
Shao-Lun Hsu, Nóra Szentmáry, Fabian N. Fries, Zhen Li, Ning Chai, Berthold Seitz, Maryam Amini, Shweta Suiwal, Tanja Stachon   +8 more
doaj   +1 more source

Clinical Review of Ocular Traumas Resulting in Enucleation or Evisceration in a Tertiary Eye Care Center in Hungary

Journal of Ophthalmology, 2021
Purpose. To analyse the demographic and clinical characteristics of ocular traumas resulting in enucleation/evisceration in a large tertiary referral center in a developed country (Hungary) over a period of 15 years. Patients and Methods. A retrospective
Gábor Tóth, Milán Tamás Pluzsik, Béla Csákány, Gábor László Sándor, Olga Lukáts, Zoltán Zsolt Nagy, Nóra Szentmáry   +6 more
doaj   +1 more source

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

Pediatric Investigation, EarlyView.
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

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

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

Aniridia‐associated keratopathy: Clinical and molecular mechanisms of disease progression and emerging therapeutic targets

Acta Ophthalmologica, EarlyView.
Abstract Congenital aniridia is a rare genetic disorder primarily caused by pathogenic variants of the PAX6 gene. It leads to various panocular anomalies, including aniridia‐associated keratopathy (AAK). This review highlights recent insights into its pathogenesis, focusing on clinical staging, microstructural changes in the cornea and molecular ...
N. Szentmáry, S. Suiwal, M. Amini, F. N. Fries, A. Náray, L. Latta, Z. Li, S. Li, S. Liu, S. L. Hsu, S. Kundu, G. Tóth, S. Trusen, J. Zimmermann, B. Seitz, B. Käsmann‐Kellner, Z. Hoxha, A. Langenbucher, O. Stachs, M. Cortón‐Perez, K. Tory, A. Csorba, Z. Z. Nagy, M. C. Acosta, J. Gallar, M. Csidey, E. Maka, T. Stachon   +27 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

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

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

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