Please provide your email address to receive an email when new articles are posted on . Few patients with cystic fibrosis have a copy of the 3849+10kb C-to-T splicing mutation. Research is planned to ...

Johns Hopkins researchers have developed a powerful new AI tool called Splam that can identify where splicing occurs in genes—an advance that could help scientists analyze genetic data with greater ...

Individuals with mutations in the ATM gene develop ataxia-telangiectasia, a neurodegenrative disorder characterized by immunological defects and cancer predisposition. In an Advanced Online ...

Affecting an estimated 100,000 people globally, cystic fibrosis (CF) cases stem from mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) protein. In the past several decades, ...

Researchers in the Landau lab, led by Dr. Dan Landau, hematology and medical oncology, recently developed a new technique to investigate how mutations in RNA splicing can lead to clonal hematopoiesis ...

Researchers at Monash University in Melbourne, Australia, have uncovered the hidden code governing how genetic mutations affect RNA splicing and result in disease. The researchers were able to ...

Although heart cells and skin cells contain identical instructions for creating proteins encoded in their DNA, they're able to fill such disparate niches because molecular machinery can cut out and ...