Traditional approaches for gene mapping from candidate gene studies to positional cloning
strategies have been applied for Mendelian disorders. Since 2005, next-generation …

Understanding the pathogenic mechanisms of disease mutations is critical to advancing
treatments. ALS-associated mutations in the gene encoding the microtubule motor KIF5A …

Skeletal dysplasias result from disruptions in normal skeletal growth and development and
are a major contributor to severe short stature. They occur in approximately 1/5,000 births …

Proteoglycans (PGs) are a major component of the extracellular matrix in many tissues and
function as structural and regulatory molecules. PGs are composed of core proteins and …

Purpose Timely diagnosis and identification of etiology of pediatric mild-to-moderate
sensorineural hearing loss (SNHL) are both medically and socioeconomically important …

Deletion or duplication of one copy of the human 16p11. 2 interval is tightly associated with
impaired brain function, including autism spectrum disorders (ASDs), intellectual disability …

Background Improving meat quality including taste and tenderness is critical to the
protection and development of markets for sheep meat. Phenotypic selection for such …

Identification of causative genes for hereditary nonsyndromic hearing loss (NSHL) is
important to decide treatment modalities and to counsel the patients. Due to the genetic …

The advent of whole-exome sequencing (WES) has facilitated the discovery of rare structure
and functional genetic variants. Combining exome sequencing with linkage studies is one of …

Background/Aim: The purpose of the present study was to explore the antiproliferative effect
of BYL719, a specific inhibitor for phosphatidylinositol 3-kinase (PI3K) p110α, in human …