Positive family history is one of the risk factors of glaucoma. It indicates that gene defect may play an important role in the development of glaucoma. The advancement of genetic research provides more strategies to understand the genetic mechanism of glaucoma. The precondition of understanding and studying the genetic factors is the possession of enough genetic resource related to diseases. Based on the usage of glaucomatous genetic resources, several genes and loci related to primary glaucoma were determined abroad. Although we hold the richest human genetic resources of diseases in China, there exist some problems in the collection, storage and usage of the genetic resources of diseases, including the lack of the strict guideline in practice, the lack of the active participant from the clinician, not closely work together of the researchers and clinician, in-sufficiently use of the genetic resources, loss of the genetic resources. We should envisage these problems. At present, it is urgent to rationally and use the genetic resource in China.
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Pest Manag Sci
January 2025
Key Laboratory of Plant Protection Resources and Pest Management of the Ministry of Education, Key Laboratory of Integrated Pest Management on the Loess Plateau of Ministry of Agriculture and Rural Affairs, College of Plant Protection, Northwest A&F University, Yangling, China.
Background: The function of some testis-specific genes (TSGs) in model insects have been studied, but their function in non-model insects remains largely unexplored. In the present study, we identified several TSGs in the fall armyworm (FAW), a significant agricultural pest, through comparative transcriptomic analysis. A testis-specific gene cluster (TSGC) comprising multiple functional genes and long non-coding RNAs was found.
View Article and Find Full Text PDFRare diseases are collectively common, affecting approximately one in twenty individuals worldwide. In recent years, rapid progress has been made in rare disease diagnostics due to advances in DNA sequencing, development of new computational and experimental approaches to prioritize genes and genetic variants, and increased global exchange of clinical and genetic data. However, more than half of individuals suspected to have a rare disease lack a genetic diagnosis.
View Article and Find Full Text PDFFront Vet Sci
December 2024
Zhanjiang Experimental Station, Chinese Academy of Tropical Agricultural Sciences, Zhanjiang, China.
Introduction: Rumen-protected fat (RPF) is a vital dietary energy source for dairy cows. However, the influences of RPF on rumen volatile fatty acid (VFA) content and bacterial communities in goats are poorly documented.
Methods: In this study, 12 castrated male goats (body weight [BW]: 13.
Background: Alport syndrome (AS) is a multifaceted condition that primarily affects the basement membranes of the kidneys, ears, and eyes. AS is considered the second most common cause of hereditary renal failure, exhibiting varied clinical manifestations across different lifespans. The aim of this study is to investigate the clinical features and genetic profile of AS and to elucidate the genotype-phenotype correlation of AS.
View Article and Find Full Text PDFMost genetic risk variants linked to ocular diseases are non-protein coding and presumably contribute to disease through dysregulation of gene expression, however, deeper understanding of their mechanisms of action has been impeded by an incomplete annotation of the transcriptional regulatory elements across different retinal cell types. To address this knowledge gap, we carried out single-cell multiomics assays to investigate gene expression, chromatin accessibility, DNA methylome and 3D chromatin architecture in human retina, macula, and retinal pigment epithelium (RPE)/choroid. We identified 420,824 unique candidate regulatory elements and characterized their chromatin states in 23 sub-classes of retinal cells.
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