Results 121 to 130 of about 417,668 (180)

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

Zebrafish models of inherited retinal dystrophies

, 2022
Inherited retinal degenerations (IRDs) cause permanent vision impairment or vision loss due to the death of rod and cone photoreceptors. Animal models of IRDs have been instrumental in providing knowledge of the pathological mechanisms that cause ...
Perkins, Brian D.
core  

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

Expansion of genotypic and phenotypic findings in ADAMTS18-related ocular pathology

American Journal of Ophthalmology Case Reports
Purpose: ADAMTS18-related ocular pathology is rare with few described cases. Features include distinctive facies, refractive error, anterior segment dysgenesis, and retinal dystrophy.
Ari H. August, Rebecca A. Procopio, Christopher J. Rapuano, José S. Pulido   +3 more
doaj   +1 more source

Retinal capillaritis in a CRB1-associated retinal dystrophy

, 2017
Purpose: To report a case of CRB1-associated retinal dystrophy characterized by vitritis, retinal capillaritis, and cystoid macular edema (CME). Methods: A case report.
Rizzo S.
core   +1 more source

Genotype Profile of Global EYS-Associated Inherited Retinal Dystrophy and Clinical Findings in a Large Chinese Cohort. [PDF]

Front Cell Dev Biol, 2021
Xu K, Chen DF, Chang H, Shen RJ, Gao H, Wang XF, Feng ZK, Zhang X, Xie Y, Li Y, Jin ZB.   +10 more
europepmc   +1 more source

Studies on muscular dystrophy associated genes [PDF]

, 2007
Muscular dystrophy is a collective group of genetic disorder that results in progressive wasting of skeletal muscle. Dysferlin, the gene responsible for Limb Girdle Muscular Dystrophy type 2B (LGMD2B) and Miyoshi Myopathy (MM) was found to be a member of
Bakir, Hadil
core  

Two novel mutations in TBC1D32 add complexity to the oro-facial-digital syndrome

Human Genomics
Background Ciliopathies are characterized by the dysfunction of cilia, being inherited retinal dystrophies (IRDs) included in sensory ciliopathies. Besides, oro-facial-digital syndrome (OFD) is caused by mutations in ciliary genes, leading to dysmorphic ...
Belén García-Bohórquez, Purificación Marín-Reina, Elena Aller, Pilar Barberán-Martínez, Miguel Armengot, Roberto Llorens-Salvador, Inmaculada Concepción Almor-Palacios, José M. Millán, Gema García-García   +8 more
doaj   +1 more source

Voretigene neparvovec for inherited retinal dystrophy. [PDF]

Aust Prescr, 2022
europepmc   +1 more source

The Impact of Modern Technologies on Molecular Diagnostic Success Rates, with a Focus on Inherited Retinal Dystrophy and Hearing Loss. [PDF]

Int J Mol Sci, 2021
de Bruijn SE, Fadaie Z, Cremers FPM, Kremer H, Roosing S.   +4 more
europepmc   +1 more source