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Choanoeca flexa strain:ChoPs Genome sequencing
CHOPS syndrome is caused by germline gain-of-function mutations of AFF4. Cornelia de Lange syndrome is caused by germline mutations of cohesin loading factors or cohesin complex genes such as NIPBL, SMC1A, SMC3 and HDAC8. There are many overlapping clinical features exist between CHOPS syndrome an...
ORGANISM(S): Homo sapiens 
AFF4 is a component of super elongation complex (SEC), which plays an important role in mobilizing paused RNA polymerase II at gene promoter regions. Using exome sequenging, we have identified a novel genetic disorder caused by missense mutations in AFF4. We propose CHOPS syndrome as a name for th...
ORGANISM(S): Homo sapiens 
CHOPS syndrome is caused by germline gain-of-function mutations of AFF4. Cornelia de Lange syndrome is caused by germline mutations of cohesin loading factors or cohesin complex genes such as NIPBL, SMC1A, SMC3 and HDAC8. There are many overlapping clinical features exist between CHOPS syndrome and ...
ORGANISM(S): Homo sapiens 
2015-01-27 | GSE64034 | GEO
A common molecular mechanism underlying Cornelia de Lange and CHOPS syndromes
A common molecular mechanism underlying Cornelia de Lange and CHOPS syndromes
Here, we introduce a simple method, termed CHOPS, for the discovery of protease substrates. CHOPS exploits a 2-pyridinecarboxaldehyde (2PCA)-biotin probe, which selectively biotinylates protein N-termini except those with proline in the second position. CHOPS can, in theory, discover substrates for...
ORGANISM(S): Homo sapiens (Human) 
2019-04-23 | PXD013019 | Pride
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