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Background De novo mutations (DNMs) are linked with many severe early-onset disorders ranging from rare congenital malformation to intellectual disability. Conventionally, DNMs are considered to have ...

We propose that an extended analysis of all coding regions of the UBA1 gene may uncover other mutations with putative functional consequences. References [1]Beck DB, et al. Somatic Mutations in UBA1 ...

Objectives Mutations in the X-linked endosomal Na+/H+ exchanger 6 (NHE6) cause Christianson syndrome (CS). Here, in the largest study to date, we examine genetic diversity and clinical progression in ...

who have a 50% chance of inheriting a gene mutation. Unfortunately, insurance often denies coverage for genetic testing even when people fit the criteria, which can cause physicians to miss a MODY ...

Layna Lou Durocher is an 18-month-old girl who was born with a rare gene mutation which makes her care very complex. Sydney Gardiner, Lanya’s mother, shares her story and the toll the condition ...

Scientists at the Texas Biomedical Research Institute have identified a strain of the bird flu virus in a patient that carries up to nine mutations. While it is not yet proven, it is suspected that ...

A research team has identified the core gene expression networks regulated by key proteins that fundamentally drive phenomena such as cancer development, metastasis, tissue differentiation from ...

Genetic suppressor screens identified intragenic mutations in UNC-104 that restored synaptic vesicle localization and coordinated movement. Fisetin, a plant flavonol, improved movement and morphology ...