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Novel protective gene against CAD uncovered

A large study has found that mutations in the gene encoding the major subunit of the asialoglycoprotein receptor are protective against coronary artery disease.

20 May 2016

UT Southwestern scientists discover mutation that causes X-linked reticulate pigmentary disorder

UT Southwestern Medical Center researchers have discovered a mutation that causes a rare systemic disorder known as X-linked reticulate pigmentary disorder (XLPDR) and, significantly, the unexpected cellular mechanism by which the mutation causes the disease.

29 Mar 2016

Tick genome study sheds light on occurrences of Lyme disease

After a decade-long research effort the genome of the deer tick has been sequenced by an international team of scientists, including researchers from the SIB Swiss Institute of Bioinformatics.

12 Feb 2016

Penn investigators devise new method to map 'transcriptome'

A new way of mapping the "transcriptome" -- the collection of RNA read-outs that are expressed by a cell's active genes -- has been devised by researchers from the Perelman School of Medicine at the University of Pennsylvania.

10 Feb 2016

Alternative splicing: a new approach to drug development? An interview with Lucy Donaldson

RNA is becoming an interesting drug target as it takes possible intervention back one step to the synthesis of a target protein, instead of trying to block or inhibit a process.

1 Feb 2016

New mechanism of differentiation may offer novel therapeutic approaches to blood malignancies, solid tumors

In humans the differentiation of stem cells into hundreds of specialized cell types is vital. Differentiation drives development from fertilized egg to a newborn, and it underlies the continuous replacement of the 5 billion cells that die every hour in an adult. On the downside, mutations in differentiation pathways of different cell types can be drivers of cancers.

13 Jan 2016

Genetic polymorphisms may serve as prognostic markers for lung cancer

Genetic polymorphisms associated with cancer progression lead to variations in gene expression and may serve as prognostic markers for lung cancer. Researchers at the Hiroshima University and Saitama Medical University found that in patients with lung cancer, a single nucleotide polymorphism (SNP) may regulate gene and protein expression and be associated with poor prognosis.

6 Oct 2015

Researchers discover new aspect of gene regulation

Researchers at the Max F. Perutz Laboratories of the University of Vienna and the Medical University of Vienna as well as at the University of Natural Resources and Life Sciences in Vienna have discovered an entirely new aspect of gene regulation they call exitron splicing.

12 Jun 2015

Mouse model may help understand the physiology behind complex brain disorders

Complex brain disorders, such as autism or schizophrenia, still puzzle scientists because their causes lie hidden in early events of brain development, which are still poorly understood.

3 Apr 2015

New computational technique reveals genetic roots of autism, cancers

In the decade since the genome was sequenced in 2003, scientists and doctors have struggled to answer an all-consuming question: Which DNA mutations cause disease?

22 Dec 2014

Four UCLA researchers receive NIH Director's New Innovator Award

Four scientists from the Eli and Edythe Broad Center of Regenerative Medicine and Stem Cell Research at UCLA have received a National Institutes of Health Director's New Innovator Award that will forward revolutionary stem cell and neuro-science in medicine.

12 Oct 2014

Antifungal drug resistance evoked through RNAi-dependent epimutations

Microorganisms like bacteria and fungi can evade treatment by acquiring mutations in the genes targeted by antibiotics or antifungal drugs.

27 Jul 2014

Researchers discover how gene commonly linked to obesity contributes to weight gain

Researchers have discovered how a gene commonly linked to obesity—FTO—contributes to weight gain. The study shows that variations in FTO indirectly affect the function of the primary cilium, a little-understood hair-like appendage on brain and other cells.

23 May 2014

Small gene embedded in large gene contributes to development of acute myeloid leukemia

A small gene that is embedded in a larger, well-known gene is the true leukemia-promoting force usually attributed to the larger gene, according to a new study by researchers at The Ohio State University Comprehensive Cancer Center - Arthur G. James Cancer Hospital and Richard J. Solove Research Institute (OSUCCC - James).

22 Apr 2014

New mouse model breakthrough for Alzheimer's disease research

Alzheimer's disease, the primary cause of dementia in the elderly, imposes a tremendous social and economic burden on modern society. In Japan, the burden of the disease in 2050 is estimated to be a half a trillion US dollars, a figure equivalent to the government's annual revenues.

15 Apr 2014

Researchers demonstrate accurate identification of amino acids

Some three billion base pairs make up the human genome-the floor plan of life. In 2003, the Human Genome Project announced the successful decryption of this code, a tour de force that continues to supply a stream of insights relevant to human health and disease.

7 Apr 2014

Restless legs syndrome alters expression of critical gene during fetal development of brain

In a study published online in Genome Research, researchers of the Helmholtz Zentrum München und the Technische Universität München have demonstrated that a common genetic variant associated with Restless Legs Syndrome (RLS) alters the expression of a critical gene during fetal development of the brain.

19 Mar 2014

MAPT gene is associated with sporadic amyotrophic lateral sclerosis in the Chinese Han population

A previous study of European Caucasian patients with sporadic amyotrophic lateral sclerosis demonstrated that a polymorphism in the microtubule-associated protein Tau (MAPT) gene was significantly associated with sporadic amyotrophic lateral sclerosis pathogenesis.

30 Dec 2013

Shared genetic risk for bipolar disorder and BMI

Researchers have found a positive association in the heritability of bipolar disorder and body mass index, supporting the theory that there is some interaction in the genetic mechanisms underlying these two traits.

19 Dec 2013

Genetic diagnostic test for inherited eye diseases now available from Mass. Eye and Ear

The Massachusetts Eye and Ear/Harvard Medical School Department of Ophthalmology today announced the availability of a comprehensive genetic diagnostic test for inherited eye diseases.

22 Nov 2013