Rare genetic mutations in an ion-exchange protein ... “Pathogenic variants in the gene SCN9A, which encodes the voltage-gated sodium channel NaV1.7, cause pain insensitivity if the variant ...

Mutations in the gene SCN9A, which encodes this protein, can make people either hypersensitive to pain or unable to feel it altogether. When Pasca’s team modified the assembloids to include a ...

The mutation is located in the 3′-UTR regulatory region of ... variants in the sodium voltage-gated channel alpha subunit 9 (SCN9A) gene, may affect response to propofol (Zhong et al., 2017). A ...

The model, called an assembloid, responds to pain-inducing stimuli and reflects the effects of genetic mutations known to alter pain perception ... to enhance or disrupt these wavelike patterns by ...

A newly identified mutation helps super-sleepers get by on just four to six hours of shut-eye per night, while the rest of us ...

Fanconi anemia is an aggressive, life-threatening disorder. Most individuals living with this rare genetic condition, ...

They used a proprietary in-house cancer genome analysis system and assessed the type and frequencies of gene mutations based on TMB, MSI, and tumor site. A total of 14 tumors were classified as ...

Mitochondrial diseases affect approximately 1 in 5,000 people worldwide, causing debilitating symptoms ranging from muscle weakness to stroke-like episodes.

Some of these conditions result from mutations in mitochondrial DNA (mtDNA), the genetic material housed in these organelles. For patients with the common m.3243A>G mutation, which can cause MELAS ...