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6 Hits
Search Condition : Filter (MeSH = Haploinsufficiency)
Species
Resource
RRC ID
Title
Journal
Published
Link
Zebrafish
vglut2:dsRed
66147
Two knockdown models of the autism genes SYNGAP1 and SHANK3 in zebrafish produce similar behavioral phenotypes associated with embryonic disruptions of brain morphogenesis.
Hum Mol Genet
2015-7-15
Pubmed
Full text
Rats
GAERS/Mave (strainID=557)
55775
Impaired cortico-striatal excitatory transmission triggers epilepsy.
Nat Commun
2019-4-23
Pubmed
Full text
Drosophila
50631
Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome.
Nat Genet
2012-4-29
Pubmed
Full text
Human and Animal Cells
RAW 264(RCB0535)
44620
Activating transcription factor 4 links metabolic stress to interleukin-6 expression in macrophages.
Diabetes
2014-1-1
Pubmed
Full text
Drosophila
NP lines
22027
The EIF4EBP3 translational repressor is a marker of CDC73 tumor suppressor haploinsufficiency in a parathyroid cancer syndrome.
Cell Death Dis
2012-2-2
Pubmed
Full text
Mice
RBRC01828
12687
Decrease in topoisomerase I is responsible for activation-induced cytidine deaminase (AID)-dependent somatic hypermutation.
Proc Natl Acad Sci U S A
2011-11-29
Pubmed
Full text