Animal models to understand the etiology and pathophysiology of polycystic ovary syndrome

E Stener-Victorin, V Padmanabhan… - Endocrine …, 2020 - academic.oup.com
More than 1 out of 10 women worldwide are diagnosed with polycystic ovary syndrome
(PCOS), the leading cause of female reproductive and metabolic dysfunction. Despite its …

Inherited retinal diseases: therapeutics, clinical trials and end points—a review

M Georgiou, K Fujinami… - Clinical & Experimental …, 2021 - Wiley Online Library
Inherited retinal diseases (IRDs) are a clinically and genetically heterogeneous group of
disorders characterised by photoreceptor degeneration or dysfunction. These disorders …

Sequence diversity analyses of an improved rhesus macaque genome enhance its biomedical utility

WC Warren, RA Harris, M Haukness, IT Fiddes… - Science, 2020 - science.org
INTRODUCTION The rhesus macaque (Macaca mulatta) is one of the most widely used
nonhuman primate (NHP) models for studying human biology and disease. As a …

Phenotyping and genotyping inherited retinal diseases: Molecular genetics, clinical and imaging features, and therapeutics of macular dystrophies, cone and cone-rod …

M Georgiou, AG Robson, K Fujinami… - Progress in retinal and …, 2024 - Elsevier
Inherited retinal diseases (IRD) are a leading cause of blindness in the working age
population and children. The scope of this review is to familiarise clinicians and scientists …

[HTML][HTML] Optogenetics for visual restoration: from proof of principle to translational challenges

M Lindner, MJ Gilhooley, S Hughes… - Progress in retinal and …, 2022 - Elsevier
Degenerative retinal disorders are a diverse family of diseases commonly leading to
irreversible photoreceptor death, while leaving the inner retina relatively intact. Over recent …

Achromatopsia: genetics and gene therapy

S Michalakis, M Gerhardt, G Rudolph… - Molecular diagnosis & …, 2022 - Springer
Achromatopsia (ACHM), also known as rod monochromatism or total color blindness, is an
autosomal recessively inherited retinal disorder that affects the cones of the retina, the type …

Neuropeptide S receptor 1 is a nonhormonal treatment target in endometriosis

TT Tapmeier, N Rahmioglu, J Lin, B De Leo… - Science translational …, 2021 - science.org
Endometriosis is a common chronic inflammatory condition causing pelvic pain and infertility
in women, with limited treatment options and 50% heritability. We leveraged genetic …

The primate model for understanding and restoring vision

S Picaud, D Dalkara, K Marazova… - Proceedings of the …, 2019 - National Acad Sciences
Retinal degenerative diseases caused by photoreceptor cell death are major causes of
irreversible vision loss. As only primates have a macula, the nonhuman primate (NHP) …

[HTML][HTML] Advancing clinical trials for inherited retinal diseases: recommendations from the Second Monaciano Symposium

DA Thompson, A Iannaccone, RR Ali… - … vision science & …, 2020 - arvojournals.org
Major advances in the study of inherited retinal diseases (IRDs) have placed efforts to
develop treatments for these blinding conditions at the forefront of the emerging field of …

Large animal models of inherited retinal degenerations: a review

PA Winkler, LM Occelli, SM Petersen-Jones - Cells, 2020 - mdpi.com
Studies utilizing large animal models of inherited retinal degeneration (IRD) have proven
important in not only the development of translational therapeutic approaches, but also in …