Results 61 to 70 of about 248,446 (274)

Effects of epigenetic age acceleration on kidney function: a Mendelian randomization study

open access: yesClinical Epigenetics, 2023
Background Previous studies have reported cross-sectional associations between measures of epigenetic age acceleration (EAA) and kidney function phenotypes. However, the temporal and potentially causal relationships between these variables remain unclear.
Yang Pan   +7 more
doaj   +1 more source

Reconstructing DNA copy number by joint segmentation of multiple sequences [PDF]

open access: yes, 2012
The variation in DNA copy number carries information on the modalities of genome evolution and misregulation of DNA replication in cancer cells; its study can be helpful to localize tumor suppressor genes, distinguish different populations of cancerous ...
Lange, Kenneth   +2 more
core   +4 more sources

Androgen Receptor‐Induced Lactoferrin Accelerates Prostate Tumorigenesis Through Modulating Ferroptosis

open access: yesAdvanced Science, EarlyView.
This study demonstrates that transcription factor androgen receptor (AR) directly binds the LF promoter, driving lactoferrin overexpression to promote ferritin (FTH1/FTL) upregulation and inhibit p53‐ALOX12‐mediated ferroptosis in prostate cancer. Lactoferrin could be a new potential therapeutic target in prostate cancer.
Can Liu   +18 more
wiley   +1 more source

Identification and analyses of exonic and copy number variants in spastic paraplegia

open access: yesScientific Reports
Hereditary spastic paraplegias are a diverse group of degenerative disorders that are clinically categorized as isolated; with involvement of lower limb spasticity, or symptomatic, where spastic paraplegia is complicated by further neurological features.
Anum Shafique   +8 more
doaj   +1 more source

Cis‐ and Trans‐Regulatory Factors Independently Shape Phenotypic Heterogeneity of Retinitis Pigmentosa

open access: yesAdvanced Science, EarlyView.
A zebrafish model carrying an identical human RHO S334X allele reveals two independent genetic layers shaping retinitis pigmentosa (RP) severity: a protective 3‐bp cis‐regulatory insertion that attenuates transgene expression, and a dominant trans‐acting modifier that restores a severe phenotype.
Cong Cui   +9 more
wiley   +1 more source

Simultaneous estimation of bi-directional causal effects and heritable confounding from GWAS summary statistics

open access: yesNature Communications, 2021
Mendelian Randomization approaches are being increasingly refined, but certain statistical limitations hinder their application to GWAS. Here, the authors propose a new Mendelian Randomization method to estimate bi- directional causal effects and ...
Liza Darrous   +2 more
doaj   +1 more source

The system of genetic exchange in Trypanosoma brucei and other trypanosomatids [PDF]

open access: yes, 2007
In this chapter, we discuss our current understanding of the systems of genetic exchange in trypanosomatids and the im-pact the recent genome projects have had on this area of research.
MacLeod, A., Tait, A., Turner, C.M.R.
core  

ACLY‐Driven Metabolic Reprogramming Promotes Histone Acetylation and Inflammation‐Associated Fibrosis in Chronic Kidney Disease

open access: yesAdvanced Science, EarlyView.
This study reveals a citrate–ACLY–H3K27ac metabolic–epigenetic axis driving inflammatory gene activation and kidney fibrosis, highlighting ACLY inhibition as a potential therapeutic strategy for chronic kidney disease (CKD). ABSTRACT The mechanisms by which metabolic stress drives epigenetic dysregulation and fibrosis in chronic kidney disease (CKD ...
Chunxiu Du   +15 more
wiley   +1 more source

Genome and RNA sequencing boost neuromuscular diagnoses to 62% from 34% with exome sequencing alone

open access: yesAnnals of Clinical and Translational Neurology
Objective Most families with heritable neuromuscular disorders do not receive a molecular diagnosis. Here we evaluate diagnostic utility of exome, genome, RNA sequencing, and protein studies and provide evidence‐based recommendations for their ...
Rhett G. Marchant   +29 more
doaj   +1 more source

Study on the causal relationship between educational attainment and delirium: A two-sample Mendelian randomization study

open access: yesHeliyon
This study aimed to investigate whether there is a causal relationship between educational attainment and delirium at the genetic level using the Mendelian randomization method, and provide new evidence for studies in this field.
Xianjie Wan   +9 more
doaj   +1 more source

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