Results 31 to 40 of about 6,792 (131)

Identification and functional validation of a novel disease‐causing variant in the noncoding region of NYX

Acta Ophthalmologica, EarlyView.
Abstract Purpose Inherited retinal diseases (IRDs) are a clinically and genetically heterogeneous group of disorders, with ~30% of cases remaining genetically unsolved. Complete congenital stationary night blindness (cCSNB) is a subtype of IRD, usually associated with reduced visual acuity, nystagmus and high myopia.
Filip Spanic, Christelle Michiels, Julien Navarro, Aline Antonio, Christel Condroyer, Camille Andrieu, Billy Gipsy, Sylvie Berthémy‐Pellet, Mathilde Gallice, Isabelle Audo, Christina Zeitz   +10 more
wiley   +1 more source

The oscillatory response of the electroretinogram and neuronal adaptation

Acta Ophthalmologica, EarlyView.
Abstract After more than 50 years, there still remains a challenge and an interest to know more as well as extend and deepen our understanding of the small rapid wavelets, the oscillatory potentials (OPs), of the electroretinogram (ERG) and the neuronal adaptation of the retina.
Lillemor Wachtmeister, Anders Eklund
wiley   +1 more source

Suppression of Retinal Neovascularisation by Tetrahedral Framework Nucleic Acids‐Resveratrol Via Dual Anti‐Angiogenesis and Anti‐Inflammation

Cell Proliferation, EarlyView.
Resveratrol‐loaded tetrahedral framework nucleic acids (tFNAs‐RSV) enable concurrent anti‐angiogenic and anti‐inflammatory therapy, enhancing ocular delivery and bioactivity. In hypoxia‐induced retinal neovascularisation, tFNAs‐RSV reduce neovascular lesions, vascular leakage and inflammatory infiltration by suppressing HIF‐1, p38 MAPK and NF‐κB p65 ...
Yili Jin, Tao Cai, Junyang Huang, Li Chen, Yi Lin, Jingying Liu, You Wang, Xiaoyan Ding   +7 more
wiley   +1 more source

Vitamin‐Responsive Disorders: From Molecular Basis to Clinical Presentation and Therapy

Journal of Inherited Metabolic Disease, Volume 49, Issue 4, July 2026.
ABSTRACT Vitamin‐dependent cofactors are essential for numerous metabolic reactions, and defects affecting their uptake, conversion, utilisation, or regeneration constitute a heterogeneous group of inherited metabolic disorders (IMDs). Although dietary vitamin intake is sufficient to sustain coenzyme synthesis in healthy individuals, it is insufficient
Cécile Acquaviva, Yann Nadjar, Manuel Schiff, Christine Vianey‐Saban, Alain Fouilhoux, Jean‐François Benoist   +5 more
wiley   +1 more source

Lactate metabolism and lactylation in female reproductive diseases: From metabolic rewiring to biomarkers and translational therapeutics

Clinical and Translational Medicine, Volume 16, Issue 6, June 2026.
1. Lactate‐derived histone lactylation links glycolytic reprogramming to epigenetic regulation in female reproductive diseases. 2. In endometriosis, lactylation may promote inflammatory remodelling, immune dysregulation and ferroptosis resistance. 3. In PCOS, lactylation connects metabolic disturbance to granulosa‐cell dysfunction and hyperandrogenism.
Jiajun Qiao, Yue Xiao, Yi Cheng, Weihai Xu, Jing Shu, Shishi Li   +5 more
wiley   +1 more source

Phenotypic Refinement of ESAM‐Related Tight‐Junctionopathy: Novel Genetic and Ocular Findings and Literature Review

Molecular Genetics &Genomic Medicine, Volume 14, Issue 6, June 2026.
Overview of neurological, ocular, and genetic findings in individuals with bi‐allelic loss‐of‐function (LoF) ESAM variants. All affected subjects (n = 21) exhibited characteristic neurovascular and neurodevelopmental anomalies, while 45% also showed ocular (mainly retinal) involvement.
Mauro Lecca, Chiara Bosetti, Federico Ruoli, Liviana Fontanel, Marco Mazza, Enza Maria Valente, Roberta Battini, Edoardo Errichiello   +7 more
wiley   +1 more source

Dual Knockout Models of the Spatially and Functionally Conserved rgra and rgrb Zebrafish Genes Reveal the Requirement of RGR for the Integrity of Cone‐Mediated Photopic Vision, the Photopic Visual Cycle and Bruch's Membrane Morphology

The FASEB Journal, Volume 40, Issue 10, 31 May 2026.
This study investigates the role of the vision gene RGR using novel dual knockout zebrafish models. The loss of rgra and rgrb results in zebrafish larvae having reduced visual function and altered retinoid profiles under light but not dark conditions. The OKR phenotype is enhanced under higher light intensities.
Grace Ruddin, Tess McCann, Joanna J. Kaylor, Michelle M. Fox, John D. Fehilly, Rebecca Ward, Adam Faulkner, Ailís L. Moran, Kieran Wynne, Roxana A. Radu, Michael G. Monaghan, Stephen D. Thorpe, Gabriel H. Travis, Breandán N. Kennedy   +13 more
wiley   +1 more source

Complicated Spastic Paraparesis: Study of a Patient With a De Novo Pathogenic Variant in ELOVL1

International Journal of Developmental Neuroscience, Volume 86, Issue 3, May 2026.
A de novo ELOVL1 variant causes syndromic spastic paraparesis with congenital ichthyosis, cerebellar signs and white matter abnormalities. Long‐term clinical and MRI follow‐up showed mild motor and neuroradiological progression with preserved intelligence and subtle cognitive efficiency decline, supporting the hypothesis of a primary neuronal disease ...
Ylenia Vaia, Eleonora Mura, Fabio Bruschi, Stefania Zambrano, Michela Brena, Gianluca Tadini, Filippo Arrigoni, Clara E. Antonello, Carla Uggetti, Cecilia Parazzini, Pierangelo Veggiotti, Davide Tonduti   +11 more
wiley   +1 more source

Diagnosis and Metabolic Management of Adult Refsum Disease: Guidance From the Medical and Scientific Committee of Global DARE (Defeat Adult Refsum Everywhere)

Journal of Inherited Metabolic Disease, Volume 49, Issue 3, May 2026.
ABSTRACT Adult Refsum disease (ARD; OMIM 266510) is a degenerative autosomal recessive condition typically diagnosed in adulthood. It affects visual, auditory and nervous system function. It is characterised by plasma, neuro‐ophthalmological and adipose tissue accumulation of the dietary‐derived phytanic acid (PA).
Radha Ramachandran, Raphael Buttigieg, Florian Eichler, Bart P. Leroy, Omar Mahroo, Rachel M. Huckfeldt, Sarah Firman, Eleanor Baldwin, Kristie DeMarco, Susan Kuranoff, Amena Fine, Reinhard Klingel, Sacha Ferdinandusse, Joseph G. Hacia, Ronald J. Wanders, Anthony S. Wierzbicki   +15 more
wiley   +1 more source

Opening closed inward rectifier potassium channel doors

British Journal of Pharmacology, Volume 183, Issue 10, Page 2197-2218, May 2026.
Inwardly rectifying potassium (KIR) channels are essential regulators of membrane potential in excitable and non‐excitable tissues. Although KIR channels exhibit a biophysical preference for potassium influx due to voltage‐dependent block of outward current by polyamines and Mg2+, under physiological conditions, they predominantly mediate K+ efflux ...
Anna Stary‐Weinzinger, Fabian Kaiser, Marcel A. G. van der Heyden, Saïd Bendahhou   +3 more
wiley   +1 more source