Words similar to haploinsufficiency
Example sentences for: haploinsufficiency
How can you use “haploinsufficiency” in a sentence? Here are some example sentences to help you improve your vocabulary:
As shown here, haploinsufficiency of BMP4 causes a variety of ocular abnormalities that are strongly influenced by strain-specific modifier genes.
In fact, an investigation of Brn3c heterozygotic mice showed no additional effect on hearing loss due to haploinsufficiency in these mice [ 35 ] . Our data on Brn3c null mouse mutants nevertheless suggest that the high to low frequency progressive hearing loss in humans may correlate with the unknown factor(s) that mediate apical spiral neuron survival into adulthood.
For FOXC1 and PAX6, both haploinsufficiency and increased gene dosage due to gene duplication result in abnormal ocular development [ 10 11 12 13 ] . Similarly, a mutation in PITX2 that results in increased transcriptional transactivation causes ASD [ 14 ] .
Vertebrate retinal development is an intricate process involving complex pathways that are not completely understood [ 47 48 49 50 51 52 53 ] . Although our cell marker analysis indicates that all major retinal cell types differentiate, haploinsufficiency of BMP4 results in a variety of retinal abnormalities.
This suggests that MYOC haploinsufficiency is not causative for glaucoma and that myocilin may even be dispensable or redundant in normal human development or only important when ocular stress occurs.