Results 61 to 70 of about 15,343 (276)

Runs of homozygosity reveal highly penetrant recessive loci in schizophrenia [PDF]

open access: yesProceedings of the National Academy of Sciences, 2007
Evolutionarily significant selective sweeps may result in long stretches of homozygous polymorphisms in individuals from outbred populations. We developed whole-genome homozygosity association (WGHA) methodology to characterize this phenomenon in healthy individuals and to use this genomic feature to identify genetic risk loci for ...
Lencz, Todd   +7 more
openaire   +3 more sources

Organoids in pediatric cancer research

open access: yesFEBS Letters, EarlyView.
Organoid technology has revolutionized cancer research, yet its application in pediatric oncology remains limited. Recent advances have enabled the development of pediatric tumor organoids, offering new insights into disease biology, treatment response, and interactions with the tumor microenvironment.
Carla Ríos Arceo, Jarno Drost
wiley   +1 more source

detectRUNS: Detect runs of homozygosity and runs of heterozygosity in diploid genomes [PDF]

open access: yes, 2018
detectRUNS is a R package for the detection of runs of homozygosity (ROH/ROHom) and of heterozygosity (ROHet, a.k.a. “heterozygosity-rich regions”) in diploid genomes. ROH/ROHom were first studied in humans (e.g. McQuillan et al.
Biscarini, Filippo   +3 more
core   +1 more source

Inhibiting stearoyl‐CoA desaturase suppresses bone metastatic prostate cancer by modulating cellular stress, mTOR signaling, and DNA damage response

open access: yesFEBS Letters, EarlyView.
Bone metastasis in prostate cancer (PCa) patients is a clinical hurdle due to the poor understanding of the supportive bone microenvironment. Here, we identify stearoyl‐CoA desaturase (SCD) as a tumor‐promoting enzyme and potential therapeutic target in bone metastatic PCa.
Alexis Wilson   +7 more
wiley   +1 more source

Organ‐specific redox imbalances in spinal muscular atrophy mice are partially rescued by SMN antisense oligonucleotides

open access: yesFEBS Letters, EarlyView.
We identified a systemic, progressive loss of protein S‐glutathionylation—detected by nonreducing western blotting—alongside dysregulation of glutathione‐cycle enzymes in both neuronal and peripheral tissues of Taiwanese SMA mice. These alterations were partially rescued by SMN antisense oligonucleotide therapy, revealing persistent redox imbalance as ...
Sofia Vrettou, Brunhilde Wirth
wiley   +1 more source

Measures of autozygosity in decline: globalization, urbanization, and its implications for medical genetics.

open access: yesPLoS Genetics, 2009
This research investigates the influence of demographic factors on human genetic sub-structure. In our discovery cohort, we show significant demographic trends for decreasing autozygosity associated with population variation in chronological age ...
Michael A Nalls   +12 more
doaj   +1 more source

Homozygosity indicators in canine MHC region of the Standard Poodle and Leonberger populations [PDF]

open access: yesActa Fytotechnica et Zootechnica, 2020
Dog breeds are the leading examples of artificial selection, with sometimes extreme changes between the wolf-like phenotypes and current breeds. This increased selection pressure manifest in increased homozygosity throughout the genome, including the ...
Geena Mary Heydie Cartick
doaj   +1 more source

Transcriptional network analysis of PTEN‐protein‐deficient prostate tumors reveals robust stromal reprogramming and signs of senescent paracrine communication

open access: yesMolecular Oncology, EarlyView.
Combining PTEN protein assessment and transcriptomic profiling of prostate tumors, we uncovered a network enriched in senescence and extracellular matrix (ECM) programs associated with PTEN loss and conserved in a mouse model. We show that PTEN‐deficient cells trigger paracrine remodeling of the surrounding stroma and this information could help ...
Ivana Rondon‐Lorefice   +16 more
wiley   +1 more source

A high-density SNP array tailored for selectively bred Arctic charr (Salvelinus alpinus)

open access: yesAquaculture Reports
SNP arrays are indispensable tools for integrating genomic information into breeding programs. A SNP array for Nordic Arctic charr (Salvelinus alpinus) containing approximately 600,000 SNPs was developed from variants detected in Swedish, Norwegian and ...
Christos Palaiokostas, Martin Johnsson
doaj   +1 more source

Multi-trait meta-analyses reveal 25 quantitative trait loci for economically important traits in Brown Swiss cattle

open access: yesBMC Genomics, 2019
Background Little is known about the genetic architecture of economically important traits in Brown Swiss cattle because only few genome-wide association studies (GWAS) have been carried out in this breed.
Zih-Hua Fang, Hubert Pausch
doaj   +1 more source

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