Results 121 to 130 of about 370,744 (189)

IMPROVE 2025: The 3rd International Meeting on Pathway‐Related Obesity: Vision & Evidence

Clinical Obesity, Volume 16, Issue 5, October 2026.
ABSTRACT An international cohort of 161 clinicians and researchers from 19 countries attended the 3rd International Meeting on Pathway‐Related Obesity: Vision & Evidence (IMPROVE) in Prague, Czech Republic, on 2–4 July 2025. The aims of the meeting were to advance understanding of hyperphagia and obesity caused by defects in the melanocortin‐4 receptor
Jesús Argente, Erica L. T. van den Akker, Metin Cetiner, Karine Clément, Elizabeth Forsythe, Alastair Garfield, Peter Kühnen, Gabriel Ángel Martos‐Moreno, David Meeker, Hermann L. Müller, Hanneke M. van Santen, Julia von Schnurbein, Bérénice Segrestin, Tomohiro Tanaka, Manuel Tena‐Sempere, Martin Wabitsch, Stefanie Zorn, I. Sadaf Farooqi   +17 more
wiley   +1 more source

Retbindin Dynamically Redistributes to Preserve Retinal Flavin‐Dependent Homeostasis in Response to Riboflavin Availability and Circadian Demand

The FASEB Journal, Volume 40, Issue 18, 30 September 2026.
The retina is a part of the central nervous system, has remarkably high energy demands that require efficient retinal metabolism. Dysregulation of retinal metabolism disrupts energy supply and redox balance, leading to the pathogenesis of diverse retinal diseases. Riboflavin and its cofactors, flavin mononucleotide (FMN) and flavin adenine dinucleotide
Xue Zhao, Mustafa S. Makia, Gennadiy P. Moiseyev, Muna I. Naash, Muayyad R. Al‐Ubaidi   +4 more
wiley   +1 more source

State-of-the-art gene therapy for inherited retinal disorders

Клиническая офтальмология
O.I. Orenburkina1, A.E. Babushkin2 1Russian Center for Eye and Plastic Surgery of the Bashkir State Medical University, Ufa, Russian Federation 2Ufa Research Institute of Eye Diseases of the Bashkir State Medical University, Ufa, Russian ...
O.I. Orenburkina, A.E. Babushkin
doaj  

Exploring Molecular Pathways in Refractive Errors Associated with Inherited Retinal Dystrophies

Frontiers in Bioscience-Landmark
The term inherited retinal dystrophies (IRDs) refers to a diverse range of conditions characterized by retinal dysfunction, and mostly deterioration, leading to a gradual decay of the visual function and eventually to total vision loss.
Fabiana D’Esposito, Caterina Gagliano, Alessandro Avitabile, Giuseppe Gagliano, Mutali Musa, Matteo Capobianco, Federico Visalli, Edoardo Dammino, Marco Zeppieri, Maria Francesca Cordeiro   +9 more
doaj   +1 more source

sj-xlsx-1-ejo-10.1177_11206721241236214 - Supplemental material for Inherited retinal dystrophies and orphan designations in the European Union

Supplemental material, sj-xlsx-1-ejo-10.1177_11206721241236214 for Inherited retinal dystrophies and orphan designations in the European Union by Jane Moseley, Tim Leest, Kristina Larsson, Armando Magrelli and Violeta Stoyanova-Beninska in European ...
Jane Moseley (18181601), Tim Leest (18181604), Violeta Stoyanova-Beninska (6020651), Kristina Larsson (7973873), Armando Magrelli (11855813)   +4 more
core   +1 more source

Clinical and Population-Specific Insights Into Inherited Retinal Dystrophies From Whole-Exome Sequencing of the Polish Cohort. [PDF]

Invest Ophthalmol Vis Sci
Ognik K, Cholewinska E, Witkowska E, Solek P, Solowiej B, Jonak K, Pietras-Baczewska A, Gajda-Derylo B, Rejdak R, Nowomiejska K.   +9 more
europepmc   +1 more source

Syndromic inherited retinal dystrophies in a national reference centre specialized in inherited sensory diseases

, 2019
International audiencePurpose : To determine the prevalence and types of syndromic diseases reported in a national reference centre specialized in inherited sensory disorders.Methods : The clinical and genetic database comprising 4267 families was ...
Roubertie, Agathe, Defoort-Dhellemmes, Sabine, Willems, Marjorlaine, Lemattre, Camille, Bocquet, Béatrice, Meunier, Isabelle, Blanchet, Patricia, Kalatzis, Vasiliki, Blanchet, Catherine, Geneviève, David   +9 more
core   +1 more source

Autosomal-dominant macular dystrophy linked to a chromosome 17 tandem duplication

JCI Insight
Hereditary macular dystrophies (HMDs) are a genetically diverse group of disorders that cause central vision loss due to photoreceptor and retinal pigment epithelium (RPE) damage.
Rabiat Adele, Rowaida Hussein, Erika Tavares, Kashif Ahmed, Matteo Di Scipio, Jason Charish, Minggao Liang, Simon Monis, Anupreet Tumber, Xiaoyan Chen, Tara A. Paton, Nicole M. Roslin, Christabel Eileen, Evgueni Ivakine, Nishanth E. Sunny, Michael D. Wilson, Eric Campos, Raju V.S. Rajala, Jason T. Maynes, Philippe P. Monnier, Andrew D. Paterson, Elise Héon, Ajoy Vincent   +22 more
doaj   +1 more source

CRB1-Associated Inherited Retinal Dystrophies: Prospective Natural History Study With 4 Years of Follow-Up. [PDF]

Clin Exp Ophthalmol
Karuntu JS, Nguyen XT, Talib M, van Schooneveld MJ, Wijnholds J, van Genderen MM, Twisk J, Schalij-Delfos NE, Klaver CCW, Florijn RJ, Ten Brink JB, Smoor MA, van den Born LI, Hoyng CB, Thiadens AAHJ, Boon CJF.   +15 more
europepmc   +1 more source

Inherited Retinal Dystrophies in the Differential Diagnosis of Uveitis: Clinical Clues from a Case. [PDF]

Turk J Ophthalmol
Yabanoğlu D, Özyol P, Şahlı E, Yalçındağ N.   +3 more
europepmc   +1 more source