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TranscriptomicsBlood Leukocyte Microarrays to Diagnose Systemic Onset Juvenile Idiopathic Arthritis and Follow IL-1 blocade
Systemic onset Juvenile Idiopathic Arthritis (SoJIA) represents up to 20% of Juvenile Idiopathic Arthritis (JIA). We have previously reported that this disease is Interleukin 1 (IL1)-mediated, and that IL-1 blockade results in clinical remission in the majority of patients. The diagnosis of SoJIA, h...
ORGANISM(S): Homo sapiens 
2007-09-01 | E-GEOD-8650 | biostudies-arrayexpress
TranscriptomicsExpression data from Sh2b3 Knock-out NOTCH1-induced leukemias
To formally address the tumor suppressor activity of Sh2b3 in vivo, we tested the interaction between oncogenic NOTCH1 and Sh2b3 loss in a retroviral- transduction bone marrow transplantation model of NOTCH-induced T-ALL Forced expression of activated NOTCH1 in this model typically results in full l...
ORGANISM(S): Mus musculus 
2013-11-06 | E-GEOD-44025 | biostudies-arrayexpress
TranscriptomicsEZH2 is required for germinal center formation and somatic EZH2 mutations promote lymphoid transformation
The EZH2 histone methyltransferase is highly expressed in germinal center (GC) B-cells and targeted by somatic mutations in B-cell lymphomas. Here we find that EZH2 deletion or pharmacologic inhibition suppresses GC formation and functions in mice. EZH2 represses proliferation checkpoint genes and h...
ORGANISM(S): Homo sapiens 
2013-05-13 | E-GEOD-45982 | biostudies-arrayexpress
GenomicsNational Heart, Lung, and Blood Institute (NHLBI) Bench to Bassinet Program: The Pediatric Cardiac Genetics Consortium (PCGC)

Multi-center, prospective observational cohort study of individuals with congenital heart defects (CHD). Phenotypic data and source DNA of probands, parents, and families of interest are being collected to investigate relationships between genetic factors and phenotypic and clinical outcomes in p...

phs000571.v1.p1 | EGA
UnknownFemale chromosome X mosaicism is age-related and preferentially affects the inactivated X chromosome.
Not available
S-EPMC4909985 | biostudies-literature
TranscriptomicsComprehensive mutational analysis of primary and relapse acute promyelocytic leukemia
Acute promyelocytic leukemia (APL) is a subtype of myeloid leukemia characterized by differentiation block at the promyelocyte stage. Besides the presence of chromosomal rearrangement t(15;17) leading to formation of PML-RARA fusion, other genetic alterations have also been implicated in APL. ...
ORGANISM(S): Homo sapiens 
2016-02-17 | E-GEOD-77946 | biostudies-arrayexpress
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