Results 151 to 160 of about 19,203 (283)

Genetic Association of Primary Angle‐Closure Glaucoma and Disease Progression

open access: yesClinical &Experimental Ophthalmology, Volume 53, Issue 6, Page 660-667, August 2025.
ABSTRACT Background To investigate single‐nucleotide polymorphisms (SNPs) reported in the largest up‐to‐date systematic review and meta‐analysis on primary angle‐closure disease (PACD), on their associations with primary angle‐closure glaucoma (PACG) and disease progression.
Yu Jing Liang   +6 more
wiley   +1 more source

The Natural Course of Bosch‐Boonstra‐Schaaf Optic Atrophy Syndrome

open access: yesClinical Genetics, Volume 108, Issue 2, Page 168-178, August 2025.
Here, we present data on genetic variants and phenotype development of 47 individuals with Bosch‐Boonstra‐Schaaf optic atrophy syndrome, a rare neurodevelopmental disorder, highlighting the fact that the disease does not appear to be fundamentally progressive.
Ilia Valentin   +4 more
wiley   +1 more source

PIK3R1 mutations in individuals with insulin resistance or growth retardation: Case series and in silico functional analysis

open access: yesJournal of Diabetes Investigation, Volume 16, Issue 8, Page 1526-1534, August 2025.
We present a report on SHORT syndrome caused by PIK3R1 mutations, including findings from in silico analysis. Our results demonstrate that these mutations impair the ability of p85α to interact with phosphopeptides. ABSTRACT Aims/Introduction Phosphatidylinositol 3‐kinase (PI3K) plays a key role in insulin signaling, and mutations in PIK3R1, which ...
Tomofumi Takayoshi   +15 more
wiley   +1 more source

Resultados a largo plazo de la cirugía refractiva corneal [PDF]

open access: yes, 2019
Las ametropías no corregidas son la primera causa de discapacidad visual y la segunda de ceguera en todo el mundo. Actualmente, muchas personas optan por solucionar este problema mediante la cirugía refractiva corneal con láser.
Barrera Meléndez, Alexandra
core  

Botulinum Neurotoxins: History, Mechanism, and Applications. A Narrative Review

open access: yesJournal of Neurochemistry, Volume 169, Issue 8, August 2025.
Botulinum neurotoxins (BoNTs), produced by Clostridium botulinum, bind irreversibly to presynaptic cholinergic nerve terminals and exploit a zinc‐dependent mechanism to cleave SNARE proteins, blocking acetylcholine release and causing flaccid paralysis.
Arik Monash   +3 more
wiley   +1 more source

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