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ProteomicsEvolution and mechanism of MEIS2-mediated forelimb specialization in bats
The genomic basis of limb adaptations in tetrapods is thought to be largely driven by changes in gene regulation. However, the mechanisms by which regulatory programs evolve are not well understood. In bats, wing membrane development has been shown to be associated with expression of the transcripti...
ORGANISM(S): Mus musculus (Mouse) Carollia perspicillata 
2026-06-10 | PXD074776 | Pride
TranscriptomicsDisruptions of Topological Chromatin Domains Causes Pathogenic Rewiring of Gene-Enhancer Interactions [4C-Seq-mouse]
Mammalian genomes are organized into megabase-scale topologically associated domains (TADs) that have been proposed to represent large regulatory units. Here we demonstrate that disruption of TADs can cause rewiring of long-range regulatory architecture and result in pathogenic phenotypes. We show t...
ORGANISM(S): Mus musculus 
2015-05-08 | E-GEOD-66379 | biostudies-arrayexpress
TranscriptomicsDisruptions of Topological Chromatin Domains Causes Pathogenic Rewiring of Gene-Enhancer Interactions [RNA-Seq]
Mammalian genomes are organized into megabase-scale topologically associated domains (TADs) that have been proposed to represent large regulatory units. Here we demonstrate that disruption of TADs can cause rewiring of long-range regulatory architecture and result in pathogenic phenotypes. We show t...
ORGANISM(S): Mus musculus 
2015-05-08 | E-GEOD-66377 | biostudies-arrayexpress
TranscriptomicsDisruptions of Topological Chromatin Domains Causes Pathogenic Rewiring of Gene-Enhancer Interactions [4C-Seq-human]
Mammalian genomes are organized into megabase-scale topologically associated domains (TADs) that have been proposed to represent large regulatory units. Here we demonstrate that disruption of TADs can cause rewiring of long-range regulatory architecture and result in pathogenic phenotypes. We show t...
ORGANISM(S): Homo sapiens 
2015-05-08 | E-GEOD-66378 | biostudies-arrayexpress
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
TranscriptomicsGDF5 variant with superior healing capacity
Seventy-two female Sprague-Dawley rats underwent a 5 mm critical-sized femoral segmental defect followed by stabilization with a custom-made unilateral external fixator. Following femoral defect generation, absorbable type I bovine collagen sponges were loaded either with 50 ug GDF5wt or 50 ug GDF5N...
ORGANISM(S): Rattus norvegicus 
2015-01-15 | E-MTAB-2249 | biostudies-arrayexpress
GenomicsDistinct Global Shifts in Genomic Binding Profiles of Limb Malformation Associated HOXD13 Mutations
We applied ChIP-seq to explore the effect of missense mutations in TFs on their genome wide binding profile. Using a retroviral expression system in chicken mesenchymal stem cells, we elucidated the mechanism underlying a novel missense mutation in HOXD13 (Q317K) associated with a complex hand and f...
ORGANISM(S): Gallus gallus 
2013-08-19 | E-GEOD-44799 | biostudies-arrayexpress
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