RNA-binding protein Rbm24 as a multifaceted post-transcriptional regulator of embryonic lineage differentiation and cellular homeostasis

R Grifone, M Shao, A Saquet, DL Shi - Cells, 2020 - mdpi.com
RNA-binding proteins control the metabolism of RNAs at all stages of their lifetime. They are
critically required for the post-transcriptional regulation of gene expression in a wide variety …

A large multiethnic GWAS meta-analysis of cataract identifies new risk loci and sex-specific effects

H Choquet, RB Melles, D Anand, J Yin… - Nature …, 2021 - nature.com
Cataract is the leading cause of blindness among the elderly worldwide and cataract
surgery is one of the most common operations performed in the United States. As the …

RNA-binding proteins and post-transcriptional regulation in lens biology and cataract: Mediating spatiotemporal expression of key factors that control the cell cycle …

SA Lachke - Experimental eye research, 2022 - Elsevier
Abstract Development of the ocular lens–a transparent tissue capable of sustaining frequent
shape changes for optimal focusing power–pushes the boundaries of what cells can …

Integrated single-cell multiomics uncovers foundational regulatory mechanisms of lens development and pathology

JA Tangeman, SM Rebull, E Grajales-Esquivel… - …, 2024 - journals.biologists.com
Ocular lens development entails epithelial to fiber cell differentiation, defects in which cause
congenital cataracts. We report the first single-cell multiomic atlas of lens development …

High-Throughput Transcriptomics of Celf1 Conditional Knockout Lens Identifies Downstream Networks Linked to Cataract Pathology

AD Siddam, M Duot, SY Coomson, D Anand, S Aryal… - Cells, 2023 - mdpi.com
Defects in the development of the ocular lens can cause congenital cataracts. To understand
the various etiologies of congenital cataracts, it is important to characterize the genes linked …

Deficiency of the bZIP transcription factors Mafg and Mafk causes misexpression of genes in distinct pathways and results in lens embryonic developmental defects

SD Patel, D Anand, H Motohashi, F Katsuoka… - Frontiers in Cell and …, 2022 - frontiersin.org
Deficiency of the small Maf proteins Mafg and Mafk cause multiple defects, namely,
progressive neuronal degeneration, cataract, thrombocytopenia and mid …

TDRD7 participates in lens development and spermiogenesis by mediating autophagosome maturation

C Tu, H Li, X Liu, Y Wang, W Li, L Meng, W Wang, Y Li… - Autophagy, 2021 - Taylor & Francis
In humans, TDRD7 (tudor domain containing 7) mutations lead to a syndrome combining
congenital cataracts (CCs) and non-obstructive azoospermia (NOA), characterized by …

Proteomic profiling of retina and retinal pigment epithelium combined embryonic tissue to facilitate ocular disease gene discovery

S Aryal, D Anand, H Huang, AP Reddy, PA Wilmarth… - Human genetics, 2023 - Springer
To expedite gene discovery in eye development and its associated defects, we previously
developed a bioinformatics resource-tool iSyTE (integrated Systems Tool for Eye gene …

The cataract-linked RNA-binding protein Celf1 post-transcriptionally controls the spatiotemporal expression of the key homeodomain transcription factors Pax6 and …

S Aryal, J Viet, BAT Weatherbee, AD Siddam… - Human genetics, 2020 - Springer
The homeodomain transcription factors (TFs) Pax6 (OMIM: 607108) and Prox1 (OMIM:
601546) critically regulate gene expression in lens development. While PAX6 mutations in …

LOTUS-domain proteins-developmental effectors from a molecular perspective

J Kubíková, R Reinig, HK Salgania, M Jeske - Biological chemistry, 2020 - degruyter.com
The LOTUS domain (also known as OST-HTH) is a highly conserved protein domain found
in a variety of bacteria and eukaryotes. In animals, the LOTUS domain is present in the …