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A genome-wide scan of non-coding RNAs and enhancers for refractive error and myopia.
Hum Genet
January 2025
Department of Ophthalmology, Erasmus University Medical Center, Rotterdam, The Netherlands.
Refractive error (RE) and myopia are complex polygenic conditions with the majority of genome-wide associated genetic variants in non-exonic regions. Given this, and the onset during childhood, gene-regulation is expected to play an important role in its pathogenesis. This prompted us to explore beyond traditional gene finding approaches.
View Article and Find Full Text PDFOvine Mined from RNA-Seq: Identification, Expression Profile, Promotion of Preadipocyte Differentiation, Promoter Activity, and Its Polymorphisms Related to Phenotypic Traits.
Animals (Basel)
December 2024
College of Life Science and Engineering, Northwest Minzu University, Lanzhou 730030, China.
Tail fat is essential for sheep survival in extreme environments, yet its significance is often overlooked, leading to the decline of fat-tailed breeds. This study identified a novel lncRNA, (), through transcriptome sequencing, showing differential expression in the tail adipose tissues of Lanzhou Fat-Tailed (LFT) sheep and Tibetan (TS) sheep. Highly expressed in adipose tissues, inhibits preadipocyte proliferation and promotes 3T3-L1 differentiation, suggesting its role in regulating fat deposition.
View Article and Find Full Text PDFFour new genome sequences of the Pallas's cat (): an insight into the patterns of within-species variability.
Front Genet
December 2024
Research Group Animal Immunogenomics, CEITEC - VETUNI Brno, Brno, Czechia.
Manul () is the only representative of the genus which makes up the Leopard Cat lineage along with the genus . Their habitat is characterized by harsh environmental conditions. Although their populations are probably more stable than previously thought, it is still the case that their population size is declining.
View Article and Find Full Text PDFChromosome X-wide common variant association study in autism spectrum disorder.
Am J Hum Genet
January 2025
The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada; Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A8, Canada; McLaughlin Centre and Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A8, Canada. Electronic address:
Autism spectrum disorder (ASD) displays a notable male bias in prevalence. Research into rare (<0.1) genetic variants on the X chromosome has implicated over 20 genes in ASD pathogenesis, such as MECP2, DDX3X, and DMD.
View Article and Find Full Text PDFCharacterising a Novel Therapeutic Target for Psoriasis, TYK2, Using Functional Genomics.
Int J Mol Sci
December 2024
School of Biological Sciences, Faculty of Biology Medicine and Health, Manchester Academic Health Science Centre, The University of Manchester, Manchester M13 9PT, UK.
Psoriasis (Ps) is a debilitating immune-mediated chronic skin condition. It affects about 1-3% of the world population, with an 8-11% prevalence in Northern European populations. Tyrosine kinase 2 (TYK2) is a newly identified target for Ps.
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