Exon News and Research

RSS

New tARC-seq method enhances precision in tracking SARS-CoV-2 mutations

A tARC-seq approach to precisely determine SARS-CoV-2 mutation frequency.

24 Apr 2024

Focusing on oncogenic driver mutations and resistance mechanisms in the treatment of NSCLC

Lung cancer is the leading cause of cancer-related death worldwide. Improved understanding of driver mutations of non-small cell lung cancer (NSCLC) has led to more biomarker-directed treatment for patients with advanced stages.

26 Mar 2024

New fluid biomarker may one day detect ALS and FTD before symptoms appear

Two progressively degenerative diseases, amyotrophic lateral sclerosis (ALS, commonly known as Lou Gehrig's disease) and frontotemporal dementia (FTD, recently in the news with the diagnoses of actor Bruce Willis and talk show host Wendy Williams), are linked by more than the fact that they both damage nerve cells critical to normal functioning -; the former affecting nerves in the brain and spinal cord leading to loss of movement, the latter eroding the brain regions controlling personality, behavior and language.

18 Mar 2024

UCLA researchers uncover dual role of GAN gene in neurological disorder, head and neck cancer

Researchers from the UCLA Health Jonsson Comprehensive Cancer Center show for the first time that a gene usually linked to giant axonal neuropathy, a rare and severe neurological condition, also plays a role in inhibiting aggressive tumor cell growth in head and neck cancers.

29 Feb 2024

Research identifies genetic change associated with human tail loss

A genetic change in our ancient ancestors may partly explain why humans don't have tails like monkeys, finds a new study led by researchers at NYU Grossman School of Medicine.

28 Feb 2024

Study reveals cytoglobin's pivotal role in cilia movement and organ positioning during development

Study reveals that cytoglobin (cygb2) plays a crucial role in regulating cilia motility and organ laterality during development, highlighting its importance in NO signaling and cilia function.

19 Dec 2023

Genetic mutation in OXR1 gene linked to brain development issues

Study investigates the effects of a loss-of-function mutation in the OXR1 gene on neurodevelopment and cellular functions in the human brain. The research shows that OXR1 deficiency impairs neural differentiation, increases sensitivity to oxidative stress, and alters histone methylation, impacting brain development and potentially contributing to neurological disorders.

27 Nov 2023

New study links DNA methylation in GLP1R gene to obesity without metabolic disorders

The study investigates the role of epigenetic changes in GLP1R gene polymorphisms on metabolically healthy obesity (MHO), revealing that apart from genetic variations, DNA methylation significantly influences the occurrence of MHO.

20 Nov 2023

Breakthrough study: inhibiting USP30 gene offers hope in treating Parkinson’s disease

Whether USP30 inhibition can serve as a disease-modifying therapy for Parkinson's disease (PD).

15 Nov 2023

Using ripretinib and surgery to manage recurrent gastrointestinal stromal tumor

A new case report was published in Oncoscience (Volume 10) on September 20, 2023, entitled, "Multi-disciplinary management of recurrent gastrointestinal stromal tumor harboring KIT exon 11 mutation with the switch-control kinase inhibitor ripretinib and surgery."

3 Nov 2023

New treatment options offer hope for patients with non-small cell lung cancer

More people with non-small cell lung cancer (NSCLC) are likely to benefit from new drugs that target molecular alterations in tumour cells, with less need for chemotherapy, following results of multiple landmark clinical trials reported for the first time in late-breaking presentations at the ESMO Congress 2023 (1-7).

17 Oct 2023

Study reveals link between CHD8 gene, gut abnormalities, and autism-related behaviors

The connection between the CHD gene and autism-related gastrointestinal (GI) manifestations.

4 Oct 2023

Unlocking the code: BigRNA's deep learning model predicts RNA behavior

Researchers have developed BigRNA, a groundbreaking deep learning model capable of predicting RNA behavior, including tissue-specific expression and splicing, directly from genomic DNA sequences. The model excels in identifying pathogenic variants and could be a game-changer in the development of personalized RNA-based therapies for treating genetic diseases.

28 Sep 2023

Dual CRISPR-Cas3 is a promising tool to induce a gigantic genomic deletion and restore dystrophin protein

Researchers evaluated the use of a dual clustered regularly interspaced short palindromic repeats (CRISPR)-Cas3 system.

29 Aug 2023

Sleep dysfunction is underreported and underrecognized in Huntington's disease

A good night's sleep is essential for everyone. In individuals with Huntington’s disease (HD), sleep disturbances constitute an additional burden that may exacerbate disease outcomes and impact patients’ quality of life.

21 Aug 2023

Molecular insights: Detecting gene fusions offers new avenues for advanced cancer management

Study identifies gene fusions to understand their relationship with observed pathologies in cancer patients.

8 Aug 2023

Fully electrical proof-of-concept biosensor for detecting RNA cancer biomarker sequences in solution at the single-molecule level

A group of researchers investigated single-molecule electrical detection of ribonucleic acid (RNA) cancer biomarkers.

3 Aug 2023

Uncommon genetic allele variants may play a vital role in treatment-resistant depression, finds study

The association between treatment-resistant depression and uncommon functional genetic alleles.

3 Aug 2023

New porcine model could help develop treatments for Dduchenne muscular dystrophy

The group of LMU scientist Eckhard Wolf has developed a porcine DMD model with a mutation, which mimics the hallmarks of the human disease but develops them in an accelerated mode.

12 Jul 2023

New therapy to mitigate fragile X syndrome may be on the horizon

An antisense therapy developed by Joel D. Richter, PhD, Sneha Shah, PhD, and Jonathan K. Watts, PhD, at UMass Chan Medical School and Elizabeth Berry-Kravis, MD, PhD, at RUSH University Medical Center, restores production of the protein FMRP in cell samples taken from patients with fragile X syndrome.

5 Jul 2023