Ontology highlight
ABSTRACT:
ORGANISM(S): Danio rerio
SUBMITTER: Joan Heath
PROVIDER: E-GEOD-53758 | biostudies-arrayexpress |
REPOSITORIES: biostudies-arrayexpress
Markmiller Sebastian S Cloonan Nicole N Lardelli Rea M RM Doggett Karen K Keightley Maria-Cristina MC Boglev Yeliz Y Trotter Andrew J AJ Ng Annie Y AY Wilkins Simon J SJ Verkade Heather H Ober Elke A EA Field Holly A HA Grimmond Sean M SM Lieschke Graham J GJ Stainier Didier Y R DY Heath Joan K JK
Proceedings of the National Academy of Sciences of the United States of America 20140210 8
Minor class or U12-type splicing is a highly conserved process required to remove a minute fraction of introns from human pre-mRNAs. Defects in this splicing pathway have recently been linked to human disease, including a severe developmental disorder encompassing brain and skeletal abnormalities known as Taybi-Linder syndrome or microcephalic osteodysplastic primordial dwarfism 1, and a hereditary intestinal polyposis condition, Peutz-Jeghers syndrome. Although a key mechanism for regulating ge ...[more]