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GenomicsGenetic Analysis of Limb Malformation Disorders: Freeman Sheldon Syndrome Exome Sequencing Study (LMD-FSS)

The overall goal of this project is to investigate the etiology and pathogenesis of malformations (i.e., birth defects) of the limb, concentrating on abnormalities of limb patterning such as limb deficiency/duplications and multiple congenital contractures.

The exome sequences of four ...

phs000204.v1.p1 | EGA
TranscriptomicsTranscription profiling of E2F4 double knockout mice and heterozygous littermates
We considered the possibility that removal of E2F4, as a key regulator of cellular quiescence, would cause systemic perturbations in the expression of E2F4 bound genes involved in cell cycle and proliferation. To test whether these pertubrations were reflected in the adult tissues' gene expression p...
ORGANISM(S): Mus musculus 
2007-06-14 | E-MEXP-1131 | biostudies-arrayexpress
GenomicsHigh definition profiling of mammalian DNA methylation by array capture and single molecule bisulfite sequencing
DNA methylation stabilizes developmentally programmed gene expression states. Aberrant methylation is associated with disease progression and is a common feature of cancer genomes. Presently, few methods enable quantitative, large-scale, single-base resolution mapping of DNA methylation states in d...
ORGANISM(S): Homo sapiens 
2009-07-08 | E-GEOD-17001 | biostudies-arrayexpress
TranscriptomicsSystematic evaluation of variability in simulated ChIP-chip experiments
The most widely-used method for detecting and measuring genome-wide protein-DNA interactions is chromatin immunoprecipitation on tiling microarrays, commonly known as ChIP-chip. Many tiling array platforms, amplification methods, and analysis algorithms exist for ChIP-chip, but a rigorous assessment...
ORGANISM(S): Homo sapiens 
2008-01-31 | E-GEOD-9842 | biostudies-arrayexpress
GenomicsThe mental retardation gene PHF8 mediates histone H4K20/H3K9 demethylation and regulates zebrafish brain apoptosis and craniofacial development: ChIP-Seq analysis
PHF8 (PHD Finger 8) mutations have been found in patients with X-linked mental retardation (XLMR) and craniofacial deformities. Here we identify PHF8 as the first enzyme that mediates demethylation of mono-methylated histone H4 lysine (K) 20 (H4K20me1), with additional activities towards H3K9me2/1 a...
ORGANISM(S): Homo sapiens 
2010-07-14 | E-GEOD-21108 | biostudies-arrayexpress
GenomicsMutational screening of linkage assay-identified candidate regions in familial breast cancer
Background: The classical candidate-gene approach has failed to identify novel breast cancer susceptibility genes. Nowadays, massive parallel sequencing technology allows the development of studies unaffordable a few years ago. However, analysis protocols are not yet sufficiently developed to extrac...
ORGANISM(S): Homo sapiens 
2011-02-18 | E-GEOD-20406 | biostudies-arrayexpress
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