B cells from human tonsil and blood were sorted using flow cytometry. The human samples were processed immediately ex-vivo using markers for known B cell subsets.
Analysis of somatic hypermutation in X-linked hyper-IgM syndrome shows specific deficiencies in mutational targeting.
No sample metadata fields
View SamplesSorted B cells using flow cytometry
Analysis of somatic hypermutation in X-linked hyper-IgM syndrome shows specific deficiencies in mutational targeting.
No sample metadata fields
View SamplesThis SuperSeries is composed of the SubSeries listed below.
Genetic factors underlying discordance in chromatin accessibility between monozygotic twins.
Specimen part
View SamplesOpen chromatin is implicated in regulatory processes, and thus variation in chromatin structure may contribute to variation in gene expression and other molecular phenotypes. In this work, we performed a targeted deep sequencing to identify somatic mutations and genetic polymorphisms underlying accessible chromatin in the genomes of 72 monozygotic twins.
Genetic factors underlying discordance in chromatin accessibility between monozygotic twins.
Specimen part
View SamplesThis SuperSeries is composed of the SubSeries listed below.
StemCellDB: the human pluripotent stem cell database at the National Institutes of Health.
Sex, Specimen part, Cell line
View SamplesTo broaden the appeal of the NIH Stem Cell Database, we analyzed a subset of undifferentiated human embryonic stem cell lines (5 lines in duplicate) on the Affymetrix platform. One standard culture protocol was used in conjunction with rigorous quality control. Expanded description of methods used and are available at: http://stemcelldb.nih.gov.
StemCellDB: the human pluripotent stem cell database at the National Institutes of Health.
Sex, Cell line
View SamplesDiabetes and obesity are widespread diseases with signifciant socioeconomic implications. We used three different types of human adipose tissue (epigastric, visceral, and subcutaneous) in order to determine differences in global gene expression between these adipose depots in severely obese patients.
Gene expression profiling in subcutaneous, visceral and epigastric adipose tissues of patients with extreme obesity.
Specimen part, Race
View SamplesDespite significant advances in our understanding of the biology determining systemic energy homeostasis, the treatment of obesity remains a medical challenge. Activation of AMP-activated protein kinase (AMPK) has been proposed as an attractive strategy for the treatment of obesity and its complications. AMPK is a conserved, ubiquitously expressed, heterotrimeric serine/threonine kinase whose short-term activation has multiple beneficial metabolic effects. Whether these translate into long-term benefits for obesity and its complications is unknown. Here, we observe that mice with chronic AMPK activation, resulting from mutation of the AMPK ?2 subunit, exhibit ghrelin signalling-dependent hyperphagia, obesity and impaired pancreatic islet insulin secretion. Humans bearing the homologous mutation manifest a congruent phenotype. Our studies highlight that long-term AMPK activation can have adverse metabolic consequences with implications for pharmacological strategies seeking to chronically activate AMPK systemically to treat metabolic disease. Overall design: Transcriptomic profiling of the hypothalamic arcuate nucleus from AMPK ?2 R299Q knock-in mice
Chronic Activation of γ2 AMPK Induces Obesity and Reduces β Cell Function.
Specimen part, Cell line, Subject
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