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.
Retinal dysplasia is characterized by palisading outer retinal cells that surround a central lumen [ 57 ] . It occurs in mice with a variety of genetic defects and in some instances is associated with abnormalities of the retinal pigment epithelium [ 58 59 60 61 62 ] . Both during development and in adult life, the retinal pigment epithelium is critical to retinal function [ 63 ] . BMP2 and 4 may act as negative growth regulators in the retinal pigment epithelium [ 64 ] . It is possible that haploinsufficiency of BMP4 in the retinal pigment epithelium may be responsible for focal retinal dysplasia and displacement of photoreceptor nuclei.
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 ] .
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.
This strongly suggested that a decrease of dosage in p53 is already sufficient for tumourigenesis, a phenomenon referred to as haploinsufficiency.