Tag Archives: gene

The Genetic Medicine Revolution — Eyes on the Future

Is the genetic revolution everybody talked about in 2001 after the human genome sequencing, here already? History and Background: It is astounding that as early as the 1960s, scientists speculated that DNA sequences could be introduced into

Novel genetics approach identifies GNAS gene as an important prerequisite for β-cell secretory capacity

AoS. Novel genetics approach identifies GNAS gene.

Type 2 diabetes mellitus (T2D) is a major health burden in developing and industrialized countries (www.idf.org). Common genetic variations, susceptibility genes, epigenetic regulation, and miRNAs have been suggested to be profoundly involved in the pathogenicity of T2D. 

Upstream open reading frames (uORFs) as translational regulators in human disease

AoS. Upstream open reading frames (uORFs) as translational regulators in human disease

The messenger RNA (mRNA) translation process is a key step of gene expression, whose regulation allows the cell to rapidly change protein synthesis in a spatio-temporal manner in response to different stimuli. Translation comprises four steps –

Nonsense-mediated mRNA decay (NMD): a bifunctional mechanism in human physiology and disease

AoS. Nonsense-mediated mRNA decay (NMD)

Proteins are the working-units of the cell, which are encoded by thousands of genes that pass their information into an intermediate molecule, the messenger RNA (mRNA). For this flow of information – from genes to RNA (transcription),

How changes in our genes impact outcome after stroke

How changes in our genes impact outcome after stroke. Atlas of Science

An ischemic stroke is the sudden death of brain cells due to lack of oxygen and glucose, which is caused by blockage of blood flow to the brain. Stroke is a leading cause of death around the

Unboxing the role of TBX1 in palatal development: a gene profiling study

Cleft palate (CP) is a disease where there is an opening or split in the palate (the roof of the mouth). CP has been reported in 1 to 2 of every 1000 births worldwide and is the

Dramatically distinct tropism and transduction efficiencies of AAV serotypes following subconjunctival injection

Instead of relying on traditional drug modalities, gene therapies rely on delivery of  nucleic acids into patient’s cells to prevent, slow, stop or treat diseases. In the past decades, gene therapy has been broadly studied in pre-clinical

International Conference on Stem Cell & Gene Therapy. Rome, Italy. September 16-18, 2020

International Conference on Stem Cell & Gene Therapy 2020. AoS

Pleasure and honour in extending you a warmly invitation to all the participants on behalf of “Magnus corpus” from all over the world to attend International Conference on  Stem Cell & Gene Therapy during September 16th-18th, 2020 at Rome,

Discovery of new genes in schizophrenia: the importance of rare diseases in psychiatry

Discovery of new genes in schizophrenia. AoS

Schizophrenia is a major psychiatric illness affecting one percent of the population worldwide. Patients suffering from schizophrenia present delusions, hallucinations, abnormal behavior, impairment in daily life and cognitive deficits. Current treatments are insufficient in addressing all of

A DNA repair gene, OGG1, polymorphism affects relapse risk of acute myeloid leukemia

A DNA repair gene, OGG1, polymorphism affects relapse risk of acute myeloid leukemia

Approximately 80% of acute myeloid leukemia (AML) patients can achieve complete remission, but around half of them relapse within five years. Defining the mechanism of relapse is essential to improve the prognosis of AML. Recently, a clonal

Repetitive DNA in the ABCA7 gene influences Alzheimer’s disease

Repetitive DNA in the ABCA7 gene influences Alzheimer’s disease

Dementia, which is characterized by decline of memory or other cognitive traits to the extent that a person’s daily functioning is affected, is one of the most important global health challenges of our time. Approximately 50 million

New literacy challenge: genetic knowledge is poor even among well educated

genome, genetic testing, genetic literacy, genetic discrimination

The beginning of the 21st century marked the beginning of the genomic era and of a new literacy challenge – genetic literacy. From genes we can now extract information related to all aspects of peoples’ lives. This

Functional gene analysis to understand complex biological mechanisms in schizophrenia

Schizophrenia (SCZ) is a chronic debilitating psychiatric disorder affecting approximately 7 in 1000 people in their lifetime and ranked as one of the top 15 leading causes of disability worldwide. The symptoms of SCZ can be divided

Alzheimer’s risk gene weakens brain cell’s garbage disposal system

APOE ε4 is the most common genetic risk factor for development of Alzheimer’s disease. Having two copies of this gene (one from the mother and one from the father) increases a person’s relative risk to as much

Mitochondrial gene discontinuity that translates into fragmented functional proteins

The majority of protein-coding genes in nuclear genomes are interrupted by spliceosomal introns or, less often, by inteins. These intervening sequences are spliced at the RNA or protein level, respectively, so that intact proteins become reconstituted. In

Transcription modulation in Xanthomonas citri subsp. citri

Xanthomonas citri subsp. citri (X. citri) is a Gram-negative bacterium and the etiological agent of citrus canker, a severe disease that affects all the commercially important citrus varieties with worldwide distribution. The best method to control the

Too hard to defeat Devils

Hematopoietic cell transplantation (HCT) offers potentially curative therapy for patients with myelodysplastic syndromes (MDS) or acute myeloid leukemia (AML). However, relapse following HCT is considerable and becomes a major cause of failure in patients with MDS and AML.

New insights into the cause of Prader-Willi syndrome, a rare obesity-related genetic disorder

Prader-Willi syndrome (PWS) is a complex genomic imprinting disorder caused by the loss of paternally expressed genes in the 15q11-q13 region usually due to a chromosome 15q11-q13 deletion seen in about 70 percent of those affected with

Molecular mechanism of phenotypic plasticity

Darwinian evolution is considered to be the way that life adapts in every possible environment in Earth. The great evolutionary biologist of the past century Theodosius Dobzansky used to say: “Nothing in Biology Makes Sense Except in

A new technology for employing artificial trans-acting small interfering RNA

A central doctrine for a gene expression is typically from the DNA coding sequence to the RNA transcript and then to the protein. So, the normal function of a gene can be disrupted by suppression, or so-called