Results 101 to 110 of about 517,479 (253)

Patient and Family Reported Clinical Picture of IRF2BPL‐Related Disorders

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT IRF2BPL‐related disorder is a neurodevelopmental disorder caused by heterozygous variants in the IRF2BPL (Interferon Regulatory Factor 2 Binding Protein‐Like) gene. The few reports available in the literature suggest that common symptoms include developmental delay, intellectual disability, and developmental regression.
Zoe Goldstone‐Joubert, Danielle M. Pascual, Laurie Anne Bailey, Loren D. M. Peña, Paul C. Marcogliese   +4 more
wiley   +1 more source

Rescue of inherited retinal degeneration associated with Aipl1 defects [PDF]

, 2012
Since groundbreaking clinical trials treating Leber congenital amaurosis (LCA) patients with retinal pigmented epithelium-specific 65 kDa protein (Rpe65) defects, which were the most successful gene therapy studies to date, much effort has been put into
Ku, Cristy Ann
core   +1 more source

A rhesus macaque model of α‐dystroglycanopathy caused by a POMT1 splice altering variant

Animal Models and Experimental Medicine, EarlyView.
Rhesus macaques homozygous for a naturally occurring spice altering variant in the POMT1 gene develop lissencephaly, microphthalmia, and muscular contracture. The presentation models severe presentation of the human Walker‐Warburg syndrome. Abstract Background Biallelic mutations in genes associated with α‐dystroglycan glycosylation manifest in a ...
Anya Nordlund, Brian LaMendola, Nathan P. Crilly, Seth Kittle, Betsy M. Ferguson, Anne D. Lewis, Jeff Wall, Samuel M. Peterson   +7 more
wiley   +1 more source

Inhibition of galanin receptor 3 slows down retina degeneration in retinitis pigmentosa through modulation of inflammatory and oxidative stress response

Scientific Reports
Photoreceptors require a finely regulated balance of oxygen, nutrients, and waste removal to sustain visual function. In inherited retinopathies like rhodopsin (RHO)-associated retinitis pigmentosa (RP), disruption in retinal homeostasis leads to ...
Maria Azam, Zaiddodine Pashandi, Mingda Liu, Beata Jastrzebska   +3 more
doaj   +1 more source

Predictors of Change in Severity of Self‐Injurious Behaviors in Preschool‐Aged Autistic Children

Autism Research, EarlyView.
ABSTRACT Self‐injurious behaviors (SIBs) affect up to 50% of autistic individuals and significantly impact quality of life and everyday functioning. Cross‐sectional studies link the presence of SIB to lower IQ, altered sensory responsivity, and poor emotion regulation, yet their effect on changes in SIB severity from early childhood to school age in ...
Joseph Boyle, Andrew Dakopolos, Olivia Surgent, Joshua K. Lee, Derek S. Andrews, Brianna Heath, Jason Smucny, Marjorie Solomon, Sally J. Rogers, Christine Wu Nordahl   +9 more
wiley   +1 more source

Cost–benefit analysis of screening programme for diabetic retinopathy in Bulgaria

British Journal of Clinical Pharmacology, EarlyView.
Aims Late‐diagnosed diabetic retinopathy (DR) is difficult and expensive to treat. Screening programmes can identify the disease early and reduce the costs of its future treatment. This study aims to analyse the cost–benefit of screening programmes for DR.
Iva Nenkova, Yoana Lilova, Alexander Oscar, Alina Levi, Maria Kamusheva, Guenka Petrova   +5 more
wiley   +1 more source

Resveratrol Protects Photoreceptors in Mouse Models of Retinal Degeneration

Antioxidants
Photoreceptor/retinal degeneration is the major cause of blindness. Induced and inherited mouse models of retinal degeneration are valuable tools for investigating disease mechanisms and developing therapeutic interventions.
Shujuan Li, Hongwei Ma, Xi-Qin Ding
doaj   +1 more source

Neurovascular coupling in bone regeneration: Mechanisms, advanced biomaterials and challenges

BMEMat, EarlyView.
This figure illustrates various material strategies for neurovascularized bone regeneration, including electroactive scaffolds, ion‐loaded materials, drug delivery systems, surface modifications, cells/cell products, growth factors, and peptides. These approaches aim to synergistically promote the regeneration of neural, vascular, and bone tissues ...
Yixin Ma, Nan Jiang, Liyuan Chen, He Zhang, Xinjia Cai, Karan Gulati, Danqing He, Zhigang Cai, Yan Liu   +8 more
wiley   +1 more source

Photoreceptor Cell Death Mechanisms in Inherited Retinal Degeneration

, 2008
Photoreceptor cell death is the major hallmark of a group of human inherited retinal degenerations commonly referred to as retinitis pigmentosa (RP).
Ekström, Per, Paquet-Durand, F., Ekström, Per,, Romero, F. J., Zrenner, E., Sancho-Pelluz, J., Kustermann, S., Arango-Gonzalez, B., van Veen, Theo, Lund University., van Veen, Theo,   +10 more
core   +1 more source

Systemic Diseases and the Eye: A Translational Perspective on Diabetes

Chronic Diseases and Translational Medicine, EarlyView.
The eye–brain–cardiometabolic axis in diabetes: retinal biomarkers as indicators of systemic disease. ABSTRACT Diabetes mellitus is a global chronic disease that affects the whole body and not just glucose metabolism. In diabetes, non‐invasive ocular changes can help understand microvascular, neurodegenerative, and inflammatory processes. This analysis
Matteo Capobianco, Marco Zeppieri, Simonetta Gaia Nicolosi, Niccolò Castellino, Francesco Cappellani, Irene Gattazzo, Caterina Gagliano   +6 more
wiley   +1 more source