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GenomicsSporadic autism exomes reveal a highly interconnected protein network of de novo mutations

It is well established that autism spectrum disorders (ASD) have a strong genetic component; however, for at least 70% of cases, the underlying genetic cause is unknown. Under the hypothesis that de novo mutations underlie a substantial fraction of the risk for developing ASD in families with no ...

phs000482.v1.p1 | EGA
ProteomicsCombined Inhibition of AKT and KIT Restores Expression of Programmed Cell Death 4 (PDCD4) in Gastrointestinal Stromal Tumor
AKT activation is a hallmark of IM resistance in GIST. The presence of an additional therapeutic agent could potentially suppress the growth and survival of a clone of cancer cells, which have developed resistance to IM. Simultaneous targeting of AKT in addition to inhibiting KIT with IM has potenti...
ORGANISM(S): Homo Sapiens (ncbitaxon:9606) 
2021-01-20 | MSV000086739 | MassIVE
UnknownA large meta-analysis identifies genes associated with anterior uveitis.
Not available
S-EPMC10638276 | biostudies-literature
TranscriptomicsProfiling protease and protease inhibitor gene expression in tumors and their microenvironment
To assist in the identification of proteases, their endogenous inhibitors, and proteins that interact with proteases or proteolytic pathways in biological tissues, a dual species oligonucleotide microarray has been developed in conjunction with Affymetrix, Inc. To investigate the performance of the ...
ORGANISM(S): Homo sapiens 
2008-07-20 | E-GEOD-6413 | biostudies-arrayexpress
TranscriptomicsPulmonary innate immune response to ozone and TLR2 agonist Pam3CYS in C57BL/6 mice
Rationale: Previous work demonstrated that pre-exposure to ozone primes innate immunity and increases TLR4-mediated response to subsequent stimulation with lipopolysaccharide (LPS). To further explore the pulmonary innate immune response to ozone exposure, we investigated the effect of ozone in com...
ORGANISM(S): Mus musculus 
2012-07-31 | E-GEOD-38014 | biostudies-arrayexpress
TranscriptomicsFine-Scale Mapping and Sequencing of Structural Variation from Eight Human Genomes
Genetic variation amongst individual humans occurs on many different scales, ranging from gross alterations in the human karyotype to single-nucleotide changes. In this manuscript we explore variation on an intermediate scale-particularly insertions, deletions, and inversions affecting from a few t...
ORGANISM(S): Homo sapiens 
2008-05-01 | E-GEOD-10008 | biostudies-arrayexpress
TranscriptomicsDifferentiation of NUT midline carcinoma by epigenomic reprogramming
Knockdown of the oncogene, BRD4-NUT, in a rare cancer, termed NUTmidline carcinoma (NMC), results in morphologic features consistent with squamous differentiation. Treatment with the HDAC-inhibitor, TSA, appears to cause the same phenotype. Here, we use gene expression profiling to compare the cha...
ORGANISM(S): Homo sapiens 
2011-07-01 | E-GEOD-18668 | biostudies-arrayexpress
TranscriptomicsFine-Scale Mapping and Sequencing of Structural Variation from Eight Human Genomes
Genetic variation amongst individual humans occurs on many different scales, ranging from gross alterations in the human karyotype to single-nucleotide changes. In this manuscript we explore variation on an intermediate scale-particularly insertions, deletions, and inversions affecting from a few t...
ORGANISM(S): Homo sapiens 
2008-05-01 | E-GEOD-10037 | biostudies-arrayexpress
UnknownWarfarin pharmacogenetics: a single VKORC1 polymorphism is predictive of dose across 3 racial groups.
Not available
S-EPMC2865873 | biostudies-literature
ProteomicsA SARS-CoV-2-Human Protein-Protein Interaction Map Reveals Drug Targets and Potential Drug-Purposing
An outbreak of the novel coronavirus SARS-CoV-2, the causative agent of COVID-19 respiratory disease, has infected over 170,000 people since the end of 2019, killed over 7,400, and caused worldwide social and economic disruption. SARS-CoV-2 infection has a mortality rate of 3.4% among confirmed case...
ORGANISM(S): Severe Acute Respiratory Syndrome Coronavirus 2 (ncbitaxon:2697049) Homo Sapiens (ncbitaxon:9606) 
2020-03-24 | MSV000085144 | MassIVE
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