That’s because the mutation at the heart of Dravet creates a phenomenon known as haploinsufficiency, in which a person falls ill if they have only a single working copy of a gene. That lone gene ...

That’s because the mutation at the heart of Dravet creates a phenomenon known as haploinsufficiency, in which a person falls ill if they have only a single working copy of a gene. That lone gene ...

That’s because the mutation at the heart of Dravet creates a phenomenon known as haploinsufficiency, in which a person falls ill if they have only a single working copy of a gene. That lone gene ...

Among persons with the WAGR syndrome, BDNF haploinsufficiency is associated with lower levels of serum BDNF and with childhood-onset obesity; thus, BDNF may be important for energy homeostasis in ...

The purpose of this study was to investigate the impact of CHCHD4 haploinsufficiency on mitochondrial function and brain injury after cerebral hypoxia-ischemia (HI) in neonatal mice. CHCHD4 +/− ...

“Haploinsufficiency in the SLC6A1 gene has been identified as a cause of genetic epilepsy, yet there remains a lack of approved disease-modifying therapies,” said Steven Gray, Ph.D., Chief ...

There are more than 300 such conditions (haploinsufficiency diseases) and some also lead to developmental delays. "Our research began as a way to help families find new treatment options for these ...

Findings from the new study were published today in Nature Communications in an article entitled “NitroSynapsin Therapy for a Mouse MEF2C Haploinsufficiency Model of Human Autism ...

Additionally, the study investigated the potential relationship between CHD8 haploinsufficiency and autism-related behavioral phenotypes. Study: CHD8 regulates gut epithelial cell function and ...

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