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UnknownA novel NF2 splicing mutant causes neurofibromatosis type 2 via liquid-liquid phase separation with large tumor suppressor and Hippo pathway.
Neurofibromatosis type 2 is an autosomal dominant multiple neoplasia syndrome and is usually caused by mutations in the neurofibromin 2 (NF2) gene, which encodes a tumor suppressor and initiates the Hippo pathway. However, the mechanism by which NF2 functions in the Hippo pathway isn't fully ...
S-EPMC9589172 | biostudies-literature
GenomicsGenome-Wide Association Studies in Upper Gastrointestinal Cancers (Asian)

This project aims to conduct genome-wide association studies (GWAS) in two anatomically different upper gastrointestinal (UGI) cancer sites in two populations with distinctly different disease rates and genetic profiles. One population has very high rates for both esophageal squamous cel...

phs000361.v1.p1 | EGA
ProteomicsProteomic analysis of chronic skin wounds in diabetic mice following electrical stimulation therapy delivered by a novel electrostimulation-hydrogel wound dressing
In this study, we established a type 2 diabetes model in C57BL/6 mice through high-fat diet induction and STZ injection. Based on this animal model, we simulated clinically common hard-to-heal chronic diabetic skin wounds by implanting a mixed bacterial fluid, including Methicillin-resistant Staphyl...
ORGANISM(S): Mus Musculus 
PXD044920 |
UnknownJoint analysis of three genome-wide association studies of esophageal squamous cell carcinoma in Chinese populations.
We conducted a joint (pooled) analysis of three genome-wide association studies (GWAS) of esophageal squamous cell carcinoma (ESCC) in individuals of Chinese ancestry (5,337 ESCC cases and 5,787 controls) with 9,654 ESCC cases and 10,058 controls for follow-up. In a logistic regression model adjuste...
S-EPMC4212832 | biostudies-literature
UnknownExtracting the femtometer structure of strange baryons using the vacuum polarization effect.
One of the fundamental goals of particle physics is to gain a microscopic understanding of the strong interaction. Electromagnetic form factors quantify the structure of hadrons in terms of charge and magnetization distributions. While the nucleon structure has been investigated extensively, data on...
S-EPMC11470094 | biostudies-literature
UnknownIntegrative analysis of 111 reference human epigenomes.
The reference human genome sequence set the stage for studies of genetic variation and its association with human disease, but epigenomic studies lack a similar reference. To address this need, the NIH Roadmap Epigenomics Consortium generated the largest collection so far of human epigenomes for pri...
S-EPMC4530010 | biostudies-literature
UnknownImputation and subset-based association analysis across different cancer types identifies multiple independent risk loci in the TERT-CLPTM1L region on chromosome 5p15.33.
Genome-wide association studies (GWAS) have mapped risk alleles for at least 10 distinct cancers to a small region of 63 000 bp on chromosome 5p15.33. This region harbors the TERT and CLPTM1L genes; the former encodes the catalytic subunit of telomerase reverse transcriptase and the latter may play ...
S-EPMC4240198 | biostudies-literature
UnknownA longitudinal resource for population neuroscience of school-age children and adolescents in China.
During the past decade, cognitive neuroscience has been calling for population diversity to address the challenge of validity and generalizability, ushering in a new era of population neuroscience. The developing Chinese Color Nest Project (devCCNP, 2013-2022), the first ten-year stage of the lifesp...
S-EPMC10442366 | biostudies-literature
UnknownGuidelines for the use and interpretation of assays for monitoring autophagy (3rd edition).
Not available
S-EPMC4835977 | biostudies-literature
UnknownGenomic and Molecular Landscape of DNA Damage Repair Deficiency across The Cancer Genome Atlas.
DNA damage repair (DDR) pathways modulate cancer risk, progression, and therapeutic response. We systematically analyzed somatic alterations to provide a comprehensive view of DDR deficiency across 33 cancer types. Mutations with accompanying loss of heterozygosity were observed in over 1/3 of DDR g...
S-EPMC5961503 | biostudies-literature
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