A fundamental objective of cardiovascular medicine is the early detection of structural changes within the heart and vasculature that would be harbingers of disease. For example, a much greater emphasis has been placed on identifying patients with underlying changes in left ventricular (LV) myocardial structure before the onset of occult LV dysfunction and symptomatic heart failure.1 These chan...

Reduced expression of the plasma membrane citrate transporter INDY (acronym I’m Not Dead, Yet) extends life span in lower organisms. Deletion mammalian Indy (mIndy) gene rodents improves metabolism via mechanisms akin to caloric restriction, known blood pressure (BP) by sympathoadrenal inhibition. We hypothesized that mIndy deletion attenuates support BP. Continuous arterial BP and heart rate (...

Today, the Channichthyidae are regarded to be one of greatest anomalies in scientific history. As only vertebrates have clear blood, Antarctic Icefish abandoned a way life that once supported its ancestors past, and supports animals present. The event triggered this anomaly was deletion β-globin subunit hemoglobin gene, rendering gene completely obsolete. In addition loss myoglobin also lost al...

Background: Duchenne muscular dystrophy (DMD) and Becker (BMD) are allelic disorders caused by mutations in the DMD gene. The full mutation spectrum of DMD gene Indonesian patients is currently unknown. Mutation-specific therapies being developed, such as exon skipping or stop codon read-through therapy. This study was conducted with aim ...

Childhood-onset proximal spinal muscular atrophies (SMAs) are an autosomal recessive, clinically heterogeneous group of neuronopathies characterized by selective degeneration of anterior horn cells. The causative genes to be reported are survival motor neuron (SMN) and neuronal apoptosis inhibitory protein (NAIP) genes. The deletion of telomeric copy of SMN (SMN(T)) gene was observed in over 95...

The spinocerebellar ataxia recessive type 10 is a genetic form associated with ANO10 gene mutations. Affected individuals present ataxia, hyperreflexia, ocular movement disorders and cerebellar atrophy. homozygous variant in the NP_060545.3:p.Asn114* 2-nucleotide deletion that would cause introduction of premature stop codon at same position, has not been previously described scientific literat...

BACKGROUND The expression of calcium/calmodulin-dependent kinase IV (CaMKIV) was hitherto thought to be confined to the nervous system. However, a recent genome-wide analysis indicated an association between hypertension and a single-nucleotide polymorphism (rs10491334) of the human CaMKIV gene (CaMK4), which suggests a role for this kinase in the regulation of vascular tone. METHODS AND RESU...

Abstract Background Gene copy number variants play an important role in the occurrence of neurodevelopmental disorders. Particularly, deletion 16p11.2 locus is associated with autism spectrum disorder, intellectual disability, and several other features. Earlier studies highlighted implication Kctd13 genetic imbalance through regulation RHOA pathway. Methods Here, we generated a new mouse model...