Results 91 to 100 of about 7,051 (240)

Transposable Element–Driven PIEZO Mutation Enhances Locust Flight in Plateau Hypoxia

open access: yesAdvanced Science, EarlyView.
Why transposable elements (TEs) persisted or expanded in genomes remains a mystery. Using integrated analysis of TE macro‐ and microevolution in locusts, our results showed that thousands of TE insertions promoted widespread adaptive variation. Subfamilies of candidate adaptive TEs amplified and reshaped species‐level genomic architecture.
Xuanzhao Li   +8 more
wiley   +1 more source

Genetic predisposition to porto‐sinusoidal vascular disorder: A functional genomic‐based, multigenerational family study

open access: yesHepatology, EarlyView., 2022
A deleterious variant of FCHSD1 results in mTOR pathway overactivation and may cause porto‐sinusoidal vascular disorder (PSVD). The pedigree of the family demonstrated an autosomal dominant disease with variable expressivity. Whole‐genome sequencing and Sanger sequencing both validated the existence of the FCHSD1 variant and the heterozygosity of c ...
Jingxuan Shan   +19 more
wiley   +1 more source

Genetic Ablation and Multi‐Omics Profiling Reveal CEP55 as a Key Driver of Tumorigenesis in Diverse Cancer Models

open access: yesAdvanced Science, EarlyView.
Genetic ablation of Cep55 in Pten‐deficient mouse models delays tumorigenesis. Integrated multi‐omics analyses (proteomics, phosphoproteomics, and spatial transcriptomics) reveal that CEP55 regulates oncogenic signaling (RAS/ERK, PI3K/AKT), integrin/FAK‐mediated adhesion, extracellular matrix (ECM) remodeling, and endocytosis.
Behnam Rashidieh   +22 more
wiley   +1 more source

Runs of Homozygosity and Epigenetic Deregulation of Genomic Imprinting

open access: yesOBM Genetics, 2018
Runs of homozygosity (ROH) are uninterrupted contiguous regions within the genome exhibiting allelic homozygosity (alleles are inherited from the same parent). Genome-wide analyses consistently demonstrate that megabase-scale ROH are ubiquitous in humans, reflecting individual demographic history.
Ivan Y. Iourov   +2 more
openaire   +1 more source

Genetic characterisation of Germanata Veneta and Mignon local duck breeds (Anas platyrhynchos) using whole-genome sequencing

open access: yesItalian Journal of Animal Science
This study investigated the genetic diversity and conservation status of two endangered Italian duck breeds: Germanata Veneta (GER, n = 50) and Mignon (MIG, n = 50). The DNA was extracted from blood and analysed through whole-genome sequencing.
Francesco Perini   +7 more
doaj   +1 more source

Ahcy Acts as an Effector of Hnf4a‐Driven Super‐Enhancer Activation to Alleviate MASLD During Intermittent Fasting

open access: yesAdvanced Science, EarlyView.
Our study identifies an Hnf4a‐driven super‐enhancer of hepatic Ahcy that mediates the protective effects of intermittent fasting against MASLD. Disruption of the Ahcy super‐enhancer reduces Ahcy expression and exacerbates lipid accumulation. This pathway prevents aberrant promoter hypermethylation by maintaining the SAM/SAH balance, as exemplified by ...
Huafeng Chen   +6 more
wiley   +1 more source

Gαi1/3 Are Essential for BMP2‐Induced Osteogenesis by Bridging BMP Receptors to the Gab1 Signaling Complex

open access: yesAdvanced Science, EarlyView.
The Gαi1/3 protein is a crucial connecting protein closely related to the signal transduction process of bone formation‐related cytokines such as BMP2. Gαi1/3 mediates downstream signaling pathways such as Smads and MAPK by binding to adaptor proteins like Gab1, thereby promoting the osteogenic effect of BMSCs.
Huajian Shan   +10 more
wiley   +1 more source

AI Designed Conformation Locking Peptides Target STING to Restore Diabetic Wound Healing

open access: yesAdvanced Science, EarlyView.
A generative AI pipeline identifies SCP‐1, a conformation‐locking peptide that stabilizes inactive STING. Incorporated into a dual‐responsive hydrogel for localized, MMP‐9‐triggered release, SCP‐1 suppresses inflammation, promotes reparative macrophage polarization, and accelerates diabetic wound healing.
Xinyu Li   +8 more
wiley   +1 more source

Long runs of homozygosity are associated with Alzheimer’s disease

open access: yes, 2022
Long runs of homozygosity (ROH) are contiguous stretches of homozygous genotypes, which are a footprint of inbreeding and recessive inheritance. The presence of recessive loci is suggested for Alzheimer’s disease (AD); however, their search has been poorly assessed to date.
Moreno-Grau, Sonia   +11 more
openaire   +3 more sources

Signatures of selection analyses reveal genomic differences among three heavy pig breeds that constitute the genetic backbone of a dry-cured ham production system

open access: yesAnimal
The Italian pig farming industry is unique in its focus on raising heavy pigs primarily for the production of high-quality dry-cured hams. These products require pigs to be slaughtered at a live weight of around 170 kg at 9 months of age.
F. Bertolini   +7 more
doaj   +1 more source

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