Results 51 to 60 of about 7,292 (198)

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

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

American Journal of Medical Genetics Part A, EarlyView.
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

Peters anomaly with post axial polydactyly, bilateral camptodactyly and club foot in a Kenyan neonate: a case report [PDF]

, 2012
Introduction A case of bilateral Peters anomaly with bilateral post axial polydactyly, bilateral camptodactyly, and club foot was examined in a neonatal Kenyan baby girl of African descent who had been delivered in the hospital and admitted to the ...
Aruyaru Stanley Mwenda
core   +2 more sources

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

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

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 proof-of-concept clinical trial using mesenchymal stem cells for the treatment of corneal epithelial stem cell deficiency [PDF]

, 2019
Producción CientíficaOcular stem cell transplantation derived from either autologous or allogeneic donor corneoscleral junction is a functional cell therapy to manage extensive and/or severe limbal stem cell deficiencies that lead to corneal epithelial ...
Alberca Zaballos, Mercedes, Calonge Cano, Margarita, Fernández Martínez, Itziar, Galindo de la Rosa, Sara, García-Sancho Martín, Francisco Javier, Herreras Cantalapiedra, José María, López Paniagua, Marina, Nieto Miguel, Teresa, Pérez Soto, María Inmaculada, Sánchez García, Ana María de los Ángeles   +9 more
core   +2 more sources

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

Newly identified paired box 6 mutation of variant familial aniridia: Congenital iris ectropion with foveal hypoplasia

Indian Journal of Ophthalmology, 2017
Congenital aniridia is a kind of eye disease characterized by complete or partial hypoplasia of the iris and is associated with other ocular anomalies including corneal opacity, glaucoma, and foveal hypoplasia. Heterozygous mutation of paired box 6 (PAX6)
Woo Jin Kim, Jong Ha Kim, Nam Chun Cho
doaj   +1 more source

Sindrom WAGR - prikaz slučaja [PDF]

, 2009
Congenital anomaly syndrome consisting of Wilms tumor, aniridia, genitourinary malformations and mental retardation (WAGR) is a rare, sporadic genetic disorder characterized by a de novo deletion in the distal band of llp13 chromosome.
Marina Mataija, Mirta Starčević
core   +1 more source