Results 31 to 40 of about 17,913 (203)

In Vitro Analysis of Gene and Protein Expression in Primary Limbal Epithelial Cells Exposed to Differentiation-Inducing Medium

Biology
Purpose: To study the time course of the differentiation process and its regulatory networks in primary limbal epithelial cells (pLECs) using serum-free, low calcium Keratocyte growth medium 3 (KGM3) and CnT-2D differentiation medium. Methods: pLECs were
Shweta Suiwal, Virendra Kumar, Tanja Stachon, Priya Katiyar, Fabian N. Fries, Berthold Seitz, Shuailin Li, Shao-Lun Hsu, Shanhe Liu, Swarnali Kundu, Maryam Amini, Sabrina Häcker, Nóra Szentmáry   +12 more
doaj   +1 more source

Aniridia-related keratopathy : structural changes in naïve and transplanted corneal buttons

, 2018
Background: To study structural changes in naive and surgically treated corneas of aniridia patients with advanced aniridia-related keratopathy (ARK).
André Vicente, Vicente, André,, Domellof, F. P., Stenevi, Ulf,, Lindström, Mona,, Mona Lindström (5368277), Fátima Pedrosa Domellöf (5368271), Pedrosa Domellöf, Fatima,, Vicente, A., Bystrom, B., Lindström, Mona, Ulf Stenevi, Pedrosa Domellöf, Fatima, Berit Byström (775753), Mona Lindström, Lindstrom, M., Stenevi, Ulf, Byström, Berit, Berit Byström, Fátima Pedrosa Domellöf, Ulf Stenevi (5368274), Vicente, André, Byström, Berit,, André Vicente (1383480)   +23 more
core   +1 more source

Bilateral sporadic aniridia: review of management

, 2010
Caroline O Adeoti1, Adeyinka A Afolabi2, Adebimpe O Ashaye3, Adenike O Adeoye41Department of Ophthalmology, 2Department of Paediatrics, Ladoke Akintola University of Technology (LAUTECH) Teaching Hospital, Osogbo, Osun State, Nigeria; 3University College
Adeyinka A Afolabi, Adebimpe O Ashaye, et al, Caroline O Adeoti, null ADEOTI   +4 more
core   +1 more source

Diadenosine polyphosphates in the tears of aniridia patients

, 2015
En abierto en la web del editor (septiembre 2016)Purpose To quantify diadenosine polyphosphate levels in tears of congenital aniridia patients to estimate the ocular surface changes associated with congenital aniridia compared to normal individuals ...
Carracedo Rodríguez, Juan Gonzalo, Peral Cerda, María Asunción, Pintor Just, Jesús Jerónimo   +2 more
core   +1 more source

Descemet Stripping Endothelial Keratoplasty for Congenital Aniridia: An Interesting and Challenging Story

Türk Oftalmoloji Dergisi, 2022
Congenital aniridia is a rare condition affecting a wide range of ocular structures, from the ocular surface to the retina. We present the case of a 59-year-old woman with PAX6- and WT1-negative congenital aniridia who developed aniridia-associated ...
Ioannis Athanasiadis, Michael Tsatsos, Nikolaos Ziakas   +2 more
doaj   +1 more source

Traumatic aniridia in a pseudophakic patient 6 years following surgery

, 2012
Mikel Mikhail1, Keyvan Koushan2, Rajeshvar K Sharda2, Gloria Isaza2, Keith D Mann21Michael G DeGroote School of Medicine, 2Division of Ophthalmology, Department of Surgery, McMaster University, Hamilton, ON, CanadaPurpose: To report a case of aniridia in
Koushan, Mann, Isaza G, Koushan K, Mikhail M, Mann KD, Isaza, Sharda RK, Sharda, Mikel Mikhail   +9 more
core   +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

Scleral fixation of brown diaphragm intraocular lens in cases of posttraumatic aniridia with aphakia

Journal of Clinical Ophthalmology and Research, 2019
Traumatic aniridia is a devastating complication of penetrating ocular injuries. Aniridia associated with aphakia can be treated with standard intraocular lens (IOL) implantation with or without scleral fixation; however, the problem of photophobia and ...
Ronel Soibam, Pritam Bawankar, Harsha Bhattacharjee, Krati Gupta   +3 more
doaj   +1 more source

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

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