A statistical model to identify hereditary and epigenetic fusion genes associated with dilated cardiomyopathy

Frontiers in Genetics, Journal Year: 2024, Volume and Issue: 15

Published: Oct. 1, 2024

Dilated cardiomyopathy (DCM) is a heart condition that causes enlarged and weakened left ventricles affects the heart’s ability to pump blood effectively. Most genetic etiology still needs be understood. Previously, we have used known germline hereditary fusion genes (HFGs) identify HFGs associated with multiple myeloma leukemia. In this study, developed statistical model study transcripts discovered from of 122 DCM patients 252 GTEx (Genotype Tissue Expression) healthy controls discover novel HFGs, ranging 4% 87.7%, EFGs, 99.2%, DCM. This discovery numerous EFGs provides first-hand evidence results interactive developmental consequences between environmental abnormalities paves way for future research diagnostic therapeutic applications, instilling hope treatment.

Language: Английский

Deciphering the Complexity of FSHD: A Multimodal Approach as a Model for Rare Disorders

International Journal of Molecular Sciences, Journal Year: 2024, Volume and Issue: 25(20), P. 10949 - 10949

Published: Oct. 11, 2024

Rare diseases are heterogeneous characterized by various symptoms and signs. Due to the low prevalence of such conditions (less than 1 in 2000 people), medical expertise is limited, knowledge poor patients’ care provided centers inadequate. An accurate diagnosis frequently challenging ongoing research also insufficient, thus complicating understanding natural progression rarest disorders. This review aims at presenting multimodal approach supported integration multiple analyses disciplines as a valuable solution clarify complex genotype–phenotype correlations promote an in-depth examination rare Taking into account literature from large-scale population studies technological advancement, this described some examples show how multi-skilled team can improve diseases. In regard, Facio-Scapulo-Humeral muscular Dystrophy (FSHD) represents example where essential for more precise diagnosis, well enhancing management patients their families. Given heterogeneity complexity, call distinctive multidisciplinary enable clinical follow-up.

Language: Английский

EHMT2 as a Candidate Gene for an Autosomal Recessive Neurodevelopmental Syndrome

Molecular Neurobiology, Journal Year: 2024, Volume and Issue: unknown

Published: Dec. 15, 2024

Language: Английский