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 …
(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 …
disorders characterised by photoreceptor degeneration or dysfunction. These disorders …
Sequence diversity analyses of an improved rhesus macaque genome enhance its biomedical utility
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 …
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 …
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
Degenerative retinal disorders are a diverse family of diseases commonly leading to
irreversible photoreceptor death, while leaving the inner retina relatively intact. Over recent …
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 …
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 …
in women, with limited treatment options and 50% heritability. We leveraged genetic …
The primate model for understanding and restoring vision
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) …
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 …
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 …
important in not only the development of translational therapeutic approaches, but also in …