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TranscriptomicsNeurofibromin (Nf1) is required for skeletal muscle development
Neurofibromatosis type 1 (NF1) is a multi-system disease caused by mutations in the NF1 gene encoding a Ras-GAP protein, neurofibromin, which negatively regulates Ras signalling. Besides neuroectodermal malformations and tumours, the skeletal system is often affected (e.g. scoliosis and long bone dy...
ORGANISM(S): Mus musculus 
2011-05-18 | E-GEOD-29343 | biostudies-arrayexpress
TranscriptomicsGenome-wide DNA methylation identifies trophoblast invasion-related genes: Claudin-4 and Fucosyltransferase IV control mobility via altering matrix metalloproteinase activity
Previously we have shown that extravillous cytotrophoblast (EVT) outgrowth and migration on a collagen gel explant model were restricted by exposure to decidual natural killer cells (dNK). This study investigates the molecular causes behind this phenomenon. Genome wide DNA methylation of exposed and...
ORGANISM(S): Homo sapiens 
2015-04-07 | E-GEOD-60885 | biostudies-arrayexpress
UnknownAutologous Thymic Organoids Support Functional T-cell Education and Enhance Antitumor Immunity in Humanized Mice with Melanoma Xenografts.
Not available
S-EPMC12641387 | biostudies-literature
UnknownCrowdsourced direct-to-consumer genomic analysis of a family quartet.
Not available
S-EPMC4636840 | biostudies-literature
UnknownOperational description of rare diseases: a reference to improve the recognition and visibility of rare diseases.
Not available
S-EPMC11389069 | biostudies-literature
TranscriptomicsDNA methylation in Early Onset Preeclamptic placentas
We investigated the DNA methylation and gene expression of 20 chorionic villi samples from early onset preeclampsia placentas to 20 gestational age matched controls. From this we were able to see a widespread disregulation in DNA methylation across a subset of genes in the genome. This may help to e...
ORGANISM(S): Homo sapiens 
2013-06-21 | E-GEOD-44667 | biostudies-arrayexpress
Genomicsena-DATASET-UCAM-GEL-15-04-2015-15:15:23:555-345 - samples
Whole exome sequencing BAM files for samples from the BRIDGE Consortium with pathogenic or likely pathogenic variants on genes linked to bleeding or platelet disorders.
EGAD00001001333 | EGA
GenomicsSequencing of heritable Bleeding and Platelet Disorders
The BRIDGE-BPD study aims to discover new causal genes for Bleeding and Platelet Disorders (BPD) by high throughput sequencing using cluster analyses based on improved and standardized deep phenotyping of cases. BPD is one of the 13 Rare Disease projects under the NIHR BioResource Rare Diseases BRID...
EGAS00001001172 | EGA
GenomicsNIHR BioResource DAC
Data Access Committee EGAC00001000259
EGAC00001000259 | EGA
UnknownPartial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling.
Not available
S-EPMC6925349 | biostudies-literature
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