Phenotype News and Research

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Researchers deplete key protein for DNA replication using protein degradation system

Researchers from Tokyo Metropolitan University and the FIRC Institute of Molecular Oncology in Italy have succeeded in depleting AND-1, a key protein for DNA replication, by using a recently developed conditional protein degradation system.

29 Sep 2018

New study reveals surprising link between gut microbiota and skin allergies

Over the last few years, scientists have discovered connections between gut microbiota imbalances and various diseases.

25 Sep 2018

CHMP issues positive opinion supporting use of Trelegy Ellipta in broader group of COPD patients

GlaxoSmithKline plc and Innoviva, Inc. announced that the European Medicines Agency's Committee for Medicinal Products for Human Use has issued a positive opinion today supporting the use of Trelegy Ellipta in a broader group of patients with moderate to severe chronic obstructive pulmonary disease and that labeling, if approved, will be updated to further reflect its effect on exacerbations of COPD.

21 Sep 2018

Research shows enlarged genotype-phenotype correlation for three-base pair deletion in NF1

International collaborative research led by Ludwine Messiaen, Ph.D., shows that while a three-base pair, in-frame deletion called p.Met992del in the NF1 gene has a mild phenotype for people with the genetic disorder neurofibromatosis type 1, or NF1, the mutation does cause complications.

18 Sep 2018

Differences in mitochondrial DNA determine severity of heart disease caused by nDNA mutation

Differences in the DNA within the mitochondria, the energy-producing structures within cells, can determine the severity and progression of heart disease caused by a nuclear DNA mutation.

12 Sep 2018

Mouse study suggests new therapeutic approach to treat heart failure

A heart attack triggers an acute inflammatory response, followed by resolution of inflammation and wound healing. A severe heart attack, however, can cause chronic and sustained inflammation that leads to heart failure and death.

10 Sep 2018

Researchers use computational analysis to identify new phenotype of severe malaria

There are more clinical phenotypes of severe malaria than those defined by the World Health Organization, according to a study led by ISGlobal, an institution supported by "la Caixa" Foundation.

31 Aug 2018

Evotec collaborates with CENTOGENE to develop compounds to treat rare genetic diseases

CENTOGENE today announced that Evotec AG and CENTOGENE AG entered into a global strategic collaboration agreement for joint drug discovery projects, developing compounds to treat rare genetic diseases.

27 Aug 2018

New minimally invasive therapy shows promise for long-term reversal of Type 1 diabetes

What if instead of daily insulin injections or wearing pumps, just getting a shot every few months could reverse Type 1 diabetes for you - or your dog?

21 Aug 2018

MSU researchers uncover the effects of aging on regenerative ability of kidneys

Autophagy is a process of destruction and processing of damaged cell components by the cells themselves. It is used by a cell to clean itself of excessive organelles and sometimes for self-execution. This adaptive mechanism supports a healthy phenotype on the cellular level.

13 Aug 2018

NIH awards $6.5 million to establish multi-institution biomedical technology resource center

The National Institutes of Health have awarded $6.5 million to a consortium that includes the Icahn Institute for Genomics and Multiscale Biology at the Icahn School of Medicine at Mount Sinai, the University of Washington, the University of Connecticut, and the University of Auckland, New Zealand, to establish the Center for Reproducible Biomedical Modeling.

13 Aug 2018

Study yields new insights into why the system needs sleep

Sleep is essential for brain functionality and overall health but understanding how sleep delivers its beneficial effects remains largely unknown. In an article publishing on August 9 in the open access journal PLOS Biology, Shanaz Diessler and Maxime Jan at the University of Lausanne and the SIB Swiss Institute of Bioinformatics (Switzerland), sleep researchers are exploring new and unbiased approaches that can take sleep to a systems level.

10 Aug 2018

Silencing of GULP1 gene expression plays important role in ovarian carcinogenesis

Johns Hopkins researchers in collaboration with Insilico Medicine, a biotechnology company based in Rockville Maryland, identify that silencing of the GULP1 gene expression by methylation plays an important role in ovarian carcinogenesis.

7 Aug 2018

Large-scale DNA sequence data on Alzheimer's disease to be made available to investigators

The National Institute on Aging Genetics of Alzheimer's Disease Data Storage Site will begin making large-scale DNA sequence data available to investigators.

24 Jul 2018

Mutated gene linked to 3-year-old girl's severe neurological symptoms

A young girl with severe neurological symptoms finally has a diagnosis, following the discovery by the Translational Genomics Research Institute of a genetic mutation that likely caused the girl to experience a cascade of symptoms.

24 Jul 2018

Restoring mitochondrial function to reverse aging-related skin wrinkles, hair loss in mice

Wrinkled skin and hair loss are hallmarks of aging. What if they could be reversed?

20 Jul 2018

Researchers uncover cause for progression of prostate cancer to incurable stage

Researchers at the University of Oulu in Finland have discovered novel genes and mechanisms that can explain how a genomic variant in a single nucleotide polymorphism rs11672691 influences prostate cancer aggressiveness.

20 Jul 2018

Researchers develop first comprehensive atlas of lung tumor cells

Researchers from VIB, Leuven University and University Hospital Leuven studied thousands of healthy and cancerous lung cells to create the first comprehensive atlas of lung tumor cells.

10 Jul 2018

Researchers identify genes associated with aggressive behavior

Researchers from the University of Barcelona and collaborators have pin-pointed forty genes that are associated with aggressive behaviors in humans and in mice.

9 Jul 2018

Natural selection may have influence on personalities, suggests study

For more than a century, scientists have understood that natural selection have profound effects on how an animal looks - Anolis lizards that spend more time on the ground, for example, might need longer legs for running, while species that remain in the trees usually have shorter legs better suited for climbing.

4 Jul 2018