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Study reveals potential therapeutic target for kidney fibrosis

When the kidneys - vital organs for filtering the body's entire blood supply - become injured, it can set in motion an unfortunate chain of events that leads to a decline in health.

20 Apr 2017

'Human knockouts': Genetics in families reveals basic biology and possible therapeutics for disorders

More than 1,800 individuals carrying loss-of-function mutations in both copies of their genes, so-called "human knockouts," are described in the first major study to be published in Nature this week by an international collaboration led by the Perelman School of Medicine at the University of Pennsylvania and colleagues.

12 Apr 2017

Study identifies CD38 gene to be essential for postnatal glial cell development

Cells in the brain are categorized roughly into two; neurons and the others, namely, glial cells. It is essential for sound development of the brain that both neurons and glial cells develop in a normal and adequate manner not only at fetal but also postnatal stages.

7 Apr 2017

Research unravels how cytokines prevent multi-organ damage during parasitic infection

Cytokines are proteins secreted by several types of immune cells in response to infection, inflammation, or injury. Interleukin-17 (IL-17) is one such cytokine that causes inflammation, by controlling the production of other cytokines and mobilizing a type of white blood cell (neutrophil) that fights infections.

3 Apr 2017

OTUD6B gene mutations linked to physical and intellectual deficits

An international team of researchers from institutions around the world, including Baylor College of Medicine, has discovered that mutations of the OTUD6B gene result in a spectrum of physical and intellectual deficits.

24 Mar 2017

Dietary anti-cancer compound from broccoli may work by influence on long non-coding RNAs

Researchers have discovered one of the reasons why broccoli may be good for your health.

16 Mar 2017

Research shows pNaKtide can attenuate development of NAFLD and atherosclerosis

Building on their recent research focusing on a peptide, pNaKtide, designed to block the oxidant amplifying function of the cellular sodium-potassium pump, researchers at Marshall University Joan C. Edwards School of Medicine have successfully demonstrated that pNaKtide, can attenuate the development of experimental nonalcoholic fatty liver disease (NAFLD) and atherosclerosis.

15 Mar 2017

Researchers discover 'Developmental Split-Brain syndrome' caused by biallelic mutations in DCC gene

In a study published in Nature Genetics, Dr Saumya Jamuar, co-founder of Global Gene Corp and a visiting scientist at Harvard Medical School, under the supervision of Prof Christopher Walsh and A/Prof Timothy Yu of Harvard Medical School, reports on a new disease entity that they discovered in their quest to map novel human disorders related to brain development.

3 Mar 2017

Study provides new insights into side effects of antipsychotics

After much deliberation and anxiety, the family finally sought psychiatric help for their son. And the results were in a way, a relief.

28 Feb 2017

UAB researchers show how GARP2 protein accelerates retinal degeneration in mice

In the retina of the eye, rod and cone cells turn light into electrical signals, the first step toward human vision.

16 Feb 2017

Researchers create first animal model of rare disease linked to problem of adrenal glands

The name of the gene is Armc5, for Armadillo repeat containing 5. Until now, its function was unknown. After 10 years of research, a team at the University of Montreal Hospital Research Centrehas succeeded in deleting this gene in experimental mice and discovered that its loss gives rise to a heretofore unidentified syndrome.

7 Feb 2017

Researcher uncovers secret life of Dab2 protein

Sometimes proteins do a lot more than we expect. Dab2, for example, has long been linked to cancer.

10 Jan 2017

Researchers develop first non-human primate X-SCID models using genome editing techniques

Researchers affiliated with the Kawasaki INnovation Gateway at SKYFRONT, have successfully generated the first ever non-human primate X-SCID models by using two genome editing techniques. The findings were published in Cell Stem Cell, July 2016.

3 Jan 2017

Novel murine model helps shed light on mechanisms involved in reversible infantile liver failure

Reversible infantile liver failure (RILF) is a heritable mitochondrial condition that causes severe liver dysfunction in infancy, but those who survive the acute stage typically recover and have no further problems.

27 Dec 2016

New TSRI study shows how Piezo2 protein plays critical role in sensing lung expansion

The new study might help shed light on sudden infant death syndrome (SIDS) in human babies, which is thought to be associated with dysfunctional airway sensory neurons.

22 Dec 2016

New study explores circadian timekeeping to create genetic knock-out rescue mice

A new study from the laboratory of Hiroki Ueda at the RIKEN Quantitative Biology Center investigates circadian timekeeping with a novel approach to creating genetic knock-out rescue mice.

22 Dec 2016

Penn researchers use CRISPR/Cas9 gene targeting approach to treat hemophilia B in mice

CRISPR/Cas9, a powerful genome editing tool, is showing promise for efficient correction of disease-causing mutations.

1 Dec 2016

Research shows way to directly target genes within specific cell type

The cornerstone of genetics is the loss-of-function experiment. In short, this means that to figure out what exactly gene X is doing in a tissue of interest—be it developing brain cells or a pancreatic tumor—you somehow cut out, switch off or otherwise destroy gene X in that tissue and then watch what happens.

1 Nov 2016

Breakthrough research links sphingolipid-mediated cell junctions and tumorigenesis

Almost all cell types exhibit some sort of polarity, which enables them to carry out specialized functions. Adherens junctions, which consist of the transmembrane protein cadherin and the intracellular components beta-catenin, alpha-catenin, and actin filaments, initiate cell-cell contacts and maintenance of cell polarity.

18 Oct 2016

Discovery of neuropilin 2 deficiency may lead to new therapies for edema and lymphedema

Fluid accumulation and swelling (edema) may result from the malfunctioning of regulatory processes controlling vessel permeability in the body.

14 Oct 2016