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Study unveils genetic pathway leading to cleft lip and palate formation

Cleft lip and cleft palate are among the most common birth defects, occurring in about one in 1,050 births in the United States.

17 Apr 2025

Researchers uncover a new genetic cause of neurodevelopmental disorders

A seminal study from researchers at the Icahn School of Medicine at Mount Sinai and their collaborators in the United Kingdom, Belgium, Spain, the Netherlands, and Iceland has uncovered a new genetic cause of neurodevelopmental disorders (NDDs).

10 Apr 2025

Unraveling resistance to CDK4/6 inhibitors in ovarian cancer

Ovarian cancer, a leading cause of death among gynecological malignancies, has a poor prognosis and low 5-year survival rate, necessitating new therapeutic strategies.

3 Apr 2025

Novel ARPC1B mutation identified in a patient with recurrent eosinophilia

Immunodeficiency disorders linked to cytoskeleton defects are rare and complex, often presenting with diverse clinical features.

1 Apr 2025

Groundbreaking study unveils key mechanism for neuronal identity regulation

A team of researchers from the Institute for Neurosciences, a joint center of the Spanish National Research Council (CSIC) and the Miguel Hernández University (UMH) of Elche, in collaboration with researchers from Columbia University (New York, USA), has identified a mechanism that regulates the production of two different proteins from the same gene.

22 Mar 2025

New approach to combat cancer by reactivating natural RNA kill switch

Alternative RNA splicing is like a movie editor cutting and rearranging scenes from the same footage to create different versions of a film.

14 Mar 2025

Advancements in molecular diagnostics for hematopoietic and lymphocytic neoplasms

Hematopoietic and lymphocytic neoplasms (HLNs) are a diverse group of malignancies affecting blood and lymphatic systems, with outcomes varying from manageable conditions to fatal diseases.

27 Feb 2025

Exploring the dual role of LKB1 in tumor suppression and promotion

Mutations in serine-threonine kinase 11 (STK11) and liver kinase B1 (LKB1) are associated with disease progression in Peutz-Jeghers syndrome (PJS), which can progress to cancer.

22 Feb 2025

LUC7 proteins play crucial role in efficient RNA splicing

RNA splicing is a cellular process that is critical for gene expression. After genes are copied from DNA into messenger RNA, portions of the RNA that don't code for proteins, called introns, are cut out and the coding portions are spliced back together.

21 Feb 2025

Newly discovered antigens could speed the development of potent cancer immunotherapies

Immune therapy has transformed how cancer is treated, but many tumors continue to evade these treatments, thanks to their resemblance to healthy tissue.

19 Feb 2025

EMBL researchers reveal new structural insights into minor spliceosome function

In human cells, only a small proportion of the information written in genes is used to produce proteins. How does the cell select this information? A large molecular machine called the spliceosome continuously separates the coding and non-coding regions of our genes – and it's doing this even as you read these lines.

12 Feb 2025

Understanding the role of alternative splicing in cardiovascular diseases

Announcing a new article publication for Cardiovascular Innovations and Applications journal. Alternative splicing (AS), a critical process for gene expression regulation, allows a single precursor RNA to produce multiple transcript variants.

8 Feb 2025

Dysregulation of RNA-binding proteins in rheumatoid arthritis and osteoarthritis

Announcing a new publication for Acta Materia Medica journal. Single-cell RNA sequencing (scRNA-seq) data from published datasets were obtained to investigate the expression and dysregulation of RNA-binding proteins (RBPs), which are critical for alternative mRNA splicing and translational control in rheumatoid arthritis (RA).

6 Feb 2025

Researchers uncover molecular mechanisms driving RNA processing defects in Huntington's disease

A University of California, Irvine-led research team has discovered intricate molecular mechanisms driving the RNA processing defects that lead to Huntington's disease and link HD with other neurodegenerative disorders such as amyotrophic lateral sclerosis, frontotemporal lobar dementia and Alzheimer's disease.

8 Jan 2025

Insilico Medicine nominates ISM1745 as preclinical candidate for MTAP-deleted cancers

Insilico Medicine ('Insilico'), a clinical-stage generative artificial intelligence (AI)-driven drug discovery and development company, today announced the nomination of ISM1745, a potentially best-in-class MTA cooperative PRMT5 inhibitor with AI-powered novel scaffold, as preclinical candidate (PCC) for the treatment of MTAP-deleted cancers.

2 Jan 2025

Scientists identify molecular mechanism behind idiopathic autism

Autism is a neurodevelopmental disorder characterized by difficulties in communication and social behavior. Approximately 20% of cases are linked to a specific genetic mutation, but the origin of the remaining 80%, known as idiopathic autism, remains a mystery.

4 Dec 2024

Study reveals protein mobility defect as a key factor in chronic diseases

Chronic diseases like type 2 diabetes and inflammatory disorders have a huge impact on humanity. They are a leading cause of disease burden and deaths around the globe, are physically and economically taxing, and the number of people with such diseases is growing.

27 Nov 2024