Worldwide carrier frequency and genetic prevalence of autosomal recessive inherited retinal diseases
One of the major questions in human genetics is what percentage of individuals in the
general population carry a disease-causing mutation. Based on publicly available …
general population carry a disease-causing mutation. Based on publicly available …
[HTML][HTML] Strategies to gain novel Alzheimer's disease diagnostics and therapeutics using modulators of ABCA transporters
Abstract Adenosine-triphosphate-(ATP)-binding cassette (ABC) transport proteins are
ubiquitously present membrane-bound efflux pumps that distribute endo-and xenobiotics …
ubiquitously present membrane-bound efflux pumps that distribute endo-and xenobiotics …
Hypomorphic variants in inherited retinal and ocular diseases: A review of the literature with clinical cases
TBT Thuma, RA Procopio, HJ Jimenez… - Survey of …, 2023 - Elsevier
Hypomorphic variants decrease, but do not eliminate, gene function via a reduction in the
amount of mRNA or protein product produced by a gene or by production of a gene product …
amount of mRNA or protein product produced by a gene or by production of a gene product …
Clinical and functional analyses of AIPL1 variants reveal mechanisms of pathogenicity linked to different forms of retinal degeneration
A Sacristan-Reviriego, HM Le, M Georgiou, I Meunier… - Scientific reports, 2020 - nature.com
Disease-causing sequence variants in the highly polymorphic AIPL1 gene are associated
with a broad spectrum of inherited retinal diseases ranging from severe autosomal recessive …
with a broad spectrum of inherited retinal diseases ranging from severe autosomal recessive …
Analysis of the ABCA4 c.[2588G>C;5603A>T] Allele in the Australian Population
JA Thompson, J Chiang, JN De Roach… - Retinal Degenerative …, 2019 - Springer
Inherited retinal diseases (IRDs) are genetically and phenotypically diverse, and they cause
significant morbidity worldwide. Importantly, IRDs may be amenable to precision medicine …
significant morbidity worldwide. Importantly, IRDs may be amenable to precision medicine …
Analysis of the ABCA4
JN De Roach, TL McLaren, FK Chen… - Retinal …, 2019 - books.google.com
Inherited retinal diseases (IRDs) are genetically and phenotypically diverse, and they cause
significant morbidity worldwide. Importantly, IRDs may be amenable to precision medicine …
significant morbidity worldwide. Importantly, IRDs may be amenable to precision medicine …