Results 41 to 50 of about 7,614 (192)

Unveiling a New Link: Cholesterol Deficiency in Smith–Lemli–Opitz and Niemann–Pick C as a Driver of Ciliopathies

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The ciliopathies are a group of genetic disorders caused by defective function of either the primary cilia (a large number) or the motile cilia (a much smaller number). These have been defined as diseases with mutations in genes encoding individual ciliary or cilia‐associated proteins.
Robert P. Erickson, Maria Teresa Fiorenza   +1 more
wiley   +1 more source

Spontaneous traumatic macular hole closure in a 50-year-old woman: a case report [PDF]

, 2011
Introduction Traumatic macular holes (TMH) are well-known complications of ocular contusion injury. Spontaneous closure occurs in approximately 50% of cases, but rarely after the age of thirty.
Rotsos Tryfon, Androudi Sofia, Tsinopoulos Ioannis, Symeonidis Chrysanthos, Nasr Mayssa B, Dimitrakos Stavros A   +5 more
core   +1 more source

Novel drugs approved by the EMA, the FDA and the MHRA in 2025: A year in review

British Journal of Pharmacology, EarlyView.
Abstract In the 2025 novel drug mini‐review, one can take a full measure of the ingenuity that underlies current drug design and development, despite the year's smaller harvest (46 novel drugs) compared to 2024 (53) and 2023 (70). 54% of the novel drugs are first‐in‐class (FIC).
Andreas Papapetropoulos, Stavros Topouzis, Steve P. H. Alexander, Miriam M. Cortese‐Krott, Zsuzsanna Helyes, Kirill Martemyanov, Claudio Mauro, Nithyanandan Nagercoil, Reynold A. Panettieri Jr, Hemal H. Patel, Rainer Schulz, Barbara Stefanska, Gary J. Stephens, Nathalie Vergnolle, Xin Wang, Stephen Ward, Péter Ferdinandy   +16 more
wiley   +1 more source

Retinal Neurodegeneration in db/db Mice at the Early Period of Diabetes

Journal of Ophthalmology, 2015
Purpose. To describe both the functional and pathological alternations in neurosensory retina in a murine model of spontaneous type 2 diabetes (db/db mouse). Methods. db/db (BKS/DB−/−) mice and heterozygous littermates (as control group) at various ages (
Qin Yang, Yidan Xu, Ping Xie, Haixia Cheng, Qinglu Song, Tu Su, Songtao Yuan, Qinghuai Liu   +7 more
doaj   +1 more source

En-face optical coherence tomography in the diagnosis and management of age-related macular degeneration and polypoidal choroidal vasculopathy [PDF]

, 2015
published_or_final_versio
Chhablani, J, Iu, LPL, Koizumi, H, Lau, T, Lee, JW, Tao, Y, Wong, RL, Wong, YHI   +7 more
core   +1 more source

Optical Coherence Tomography in Inherited Macular Dystrophies: A Review

Diagnostics
Macular dystrophies (MDs) constitute a collection of hereditary retina disorders leading to notable visual impairment, primarily due to progressive macular atrophy.
Alba Gómez-Benlloch, Xavier Garrell-Salat, Estefanía Cobos, Elena López, Anna Esteve-Garcia, Sergi Ruiz, Meritxell Vázquez, Laura Sararols, Marc Biarnés   +8 more
doaj   +1 more source

A supramolecular assembly of cone‐specific G‐protein and cryptochrome 4a on lipid bilayer

The FEBS Journal, EarlyView.
Immobilized phospholipid bilayers on a sensor chip surface serve as membrane platform to investigate critical protein–lipid and protein–protein interaction processes by surface plasmon resonance. The putative magnetoreceptor cryptochrome 4a and the myristoylated cone‐specific G‐protein α‐subunit (Gtα) bind with high affinity to immobilized lipid ...
Ümmügülsüm Güzelsoy‐Flügge, Srđan Vujinović, Alexander Scholten, Karl‐Wilhelm Koch   +3 more
wiley   +1 more source

Cholesterol and ocular pathologies: focus on the role of cholesterol-24S-hydroxylase in cholesterol homeostasis

Oilseeds and fats, crops and lipids, 2015
The retina is responsible for coding the light stimulus into a nervous signal that is transferred to the brain via the optic nerve. The retina is formed by the association of the neurosensory retina and the retinal pigment epithelium that is supported by
Fourgeux Cynthia, Martine Lucy, Gambert-Nicot Ségolène, Bron Alain, Creuzot-Garcher Catherine, Bretillon Lionel   +5 more
doaj   +1 more source

FHL-1 interacts with human RPE cells through the α5β1 integrin and confers protection against oxidative stress

Scientific Reports, 2021
Retinal pigment epithelial (RPE) cells that underlie the neurosensory retina are essential for the maintenance of photoreceptor cells and hence vision. Interactions between the RPE and their basement membrane, i.e.
Rawshan Choudhury, Nadhim Bayatti, Richard Scharff, Ewa Szula, Viranga Tilakaratna, Maja Søberg Udsen, Selina McHarg, Janet A. Askari, Martin J. Humphries, Paul N. Bishop, Simon J. Clark   +10 more
doaj   +1 more source

Novel rodent models for macular research [PDF]

, 2010
Background: Many disabling human retinal disorders involve the central retina, particularly the macula. However, the commonly used rodent models in research, mouse and rat, do not possess a macula.
Huber, Gesine, Heynen, Severin, Imsand, Coni, vom Hagen, Franziska, Muehlfriedel, Regine, Tanimoto, Naoyuki, Feng, Yuxi, Hammes, Hans-Peter, Grimm, Christian, Peichl, Leo, Seeliger, Mathias W., Beck, Susanne Christiane   +11 more
core   +1 more source