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TranscriptomicsWhole-genome array CGH evaluation for replacing prenatal karyotyping in Hong Kong
The project aim is to evaluate the role of whole-genome aCGH for prenatal diagnosis in Hong Kong. Array CGH was performed on 220 samples recruited prospectively as the first-tier test study; and on 150 samples with abnormal ultrasound findings and normal karyotypes as a further-test study using Nimb...
ORGANISM(S): Homo sapiens 
2014-01-01 | E-MTAB-2156 | biostudies-arrayexpress
UnknownPhase 1 Dose-Escalation Study of Pegylated Arginine Deiminase, Cisplatin, and Pemetrexed in Patients With Argininosuccinate Synthetase 1-Deficient Thoracic Cancers.
Not available
S-EPMC6141244 | biostudies-literature
TranscriptomicsSmall RNA mediated immune responses: insights from analyses of nine soybean R-gene near-isogenic lines and their susceptible parent
Small RNAs, including microRNAs (miRNAs) and small interfering RNAs (siRNAs) are negative regulators to target endogenous genes and repetitive sequences in plants. Although miRNAs and trans-acting or phased siRNAs (tasiRNAs or phasiRNAs) were found to target hundreds of disease related genes in Medi...
ORGANISM(S): Glycine max 
2015-04-15 | E-GEOD-56859 | biostudies-arrayexpress
UnknownComparison of 6 handheld ultrasound devices by point-of-care ultrasound experts: a cross-sectional study.
Not available
S-EPMC11447175 | biostudies-literature
ProteomicsDomain-specific p53 mutants activate EGFR by distinct mechanisms exposing tissue-independent therapeutic vulnerabilities
Mis-sense mutations affecting TP53 promote carcinogenesis both by inactivating its tumor suppressive functions, and by conferring aberrant pro-carcinogenic activities. We report here that mis-sense mutants in the p53 DNA-binding domain (DBD) and the transactivation domain (TAD) unexpectedly activate...
ORGANISM(S): Homo Sapiens (human) 
2023-02-17 | PXD031725 | JPOST Repository
UnknownSex differences in the diagnosis latency of Parkinson's disease in Latin America.
Not available
S-EPMC12703624 | biostudies-literature
ProteomicsHepatocyte mitochondrial NAD+ content is limiting for liver regeneration
Supplemental NAD+ precursors show metabolic and functional benefits in rodent models of disease and are being explored as potential therapeutics in human studies. However, the wide range of processes that involve NAD+ in every cell and subcellular compartment make it difficult to narrow down mechani...
ORGANISM(S): Mus Musculus (ncbitaxon:10090) 
2025-08-15 | MSV000098839 | MassIVE
GenomicsGoT2D: Genetics of Type 2 Diabetes, a study of the the genetic architecture of type 2 diabetes using low pass whole genome sequencing and high density SNP genotyping in 2,657 individuals.
The Genetics of Type 2 Diabetes Consortium (GoT2D) is a collaboration between the University of Michigan, the Broad Institute and the Wellcome Trust Centre for Human Genetics. The overall aim is to extend upon recent efforts, such as genome-wide association studies (GWAS) and large scale meta-analys...
EGAS00001001459 | EGA
Genomicsena-DATASET-GoT2D/T2D-GENES-09-07-2016-02:03:47:226-1135 - samples
The GoT2D study includes ~2800 samples, half T2D cases and half T2D controls, of Northern European ancestry sequenced over 3 three technologies: deep whole exome sequencing, low-pass (4x) whole genome sequencing, and OMNI 2.5M genotyping. Samples were ascertained to be phenotypically "extreme" (e.g....
EGAD00001002247 | EGA
Genomicsena-DATASET-GoT2D/T2D-GENES-08-07-2016-21:22:44:693-1130 - samples
The T2D-GENES/GoT2D 13K exome sequencing study includes ~13,000 samples, half T2D cases and half T2D controls, from five ancestries (~5K Europeans, ~2K each of African-American, East-Asian, South-Asian, and Hispanic). Samples underwent deep exome sequencing, with SNVs and INDEls called according to ...
EGAD00001002246 | EGA
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