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UnknownThe ATP-sensitive K(+) channel ABCC8 S1369A type 2 diabetes risk variant increases MgATPase activity.
Not available
S-EPMC3237651 | biostudies-literature
UnknownMinimization-Aware Recursive K*: A Novel, Provable Algorithm that Accelerates Ensemble-Based Protein Design and Provably Approximates the Energy Landscape.
Not available
S-EPMC7185359 | biostudies-literature
UnknownMonilethrix with holt-oram syndrome: case report of a rare association.
Not available
S-EPMC4387697 | biostudies-literature
TranscriptomicsGene expression profiling of HOS (human osteosarcoma) cells exposed to fluoride
Though fluoride is considered an essential trace element, chronic exposure to fluoride is known to cause toxic effects. Chronic exposure of high concentration of fluoride may leads to fluorosis. To understand the molecular mechanism of fluoride induced toxicity gene expression profiling was performe...
ORGANISM(S): Homo sapiens 
2016-06-30 | E-GEOD-70719 | biostudies-arrayexpress
UnknownA novel de novo TBX5 mutation in a patient with Holt-Oram syndrome leading to a dramatically reduced biological function.
Not available
S-EPMC5023941 | biostudies-literature
UnknownCutting the Gordian knot of diuretic resistance using continuous ultrafiltration in a Holt-Oram patient with decompensated heart failure and Eisenmenger syndrome: a case report.
Not available
S-EPMC11350376 | biostudies-literature
UnknownDetection of Klebsiella pneumoniae human gut carriage: a comparison of culture, qPCR, and whole metagenomic sequencing methods.
Not available
S-EPMC9450895 | biostudies-literature
TranscriptomicsHOS1 versus hos1 mRNA sequencing
Sequencing of mRNA extracted from 14 day old Columbia and hos1-3 seedlings grown at 22C 12:12 light dark Cold acclimation has been shown to be attenuated by the degradation of the INDUCER OF CBF EXPRESSION1 protein by the E3 ubiquitin ligase HIGH EXPRESSION OF OSMOTICALLY RESPONSIVE GENES1 (HOS1). H...
ORGANISM(S): Arabidopsis thaliana 
2016-07-21 | E-GEOD-84606 | biostudies-arrayexpress
ProteomicsDecoding Post-Translational Modification Patterns to Gain Functional Insights into Pathogenic Missense Variants
Genome sequencing has uncovered numerous pathogenic missense variants; however, their functional consequences remain largely unexplored, limiting our understanding of their precise roles in diseases. These variants may disrupt post-translational modifications (PTMs), which are crucial for cellular s...
ORGANISM(S): Homo sapiens (Human) 
2025-09-29 | PXD059468 | Pride
Machine learning Ptm 
ProteomicsProteogenomic characterization of muscle invasive bladder cancer
To explore potential chemoresistance mechanisms and identify therapeutic opportunities in muscle invasive bladder cancer (MIBC), we conducted comprehensive proteogenomic characterization of 46 pre- and 14 post-treatment MIBC tumors incorporating genomics, transcriptomics, proteomics, and phosphoprot...
ORGANISM(S): Homo sapiens (Human) 
2025-09-22 | PXD060290 | Pride
Tmt Cancer Bladder cancer 
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