Phenotype News and Research

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Comprehensive Sequencing of the Little Skate Genome

Rutgers geneticists, working with an international team of scientists, have conducted the most comprehensive sequencing yet of the complete DNA sequence of the little skate – which, like its better-known cousin, the stingray, has long been viewed as enigmatic because of its shape.

13 Apr 2023

MET+LEU Cocktail Prevents Cellular Senescence and Disrupted Proteostasis Induced by Myotube Atrophy

A new research paper was published on the cover of Aging (listed by MEDLINE/PubMed as "Aging (Albany NY)" and "Aging-US" by Web of Science) Volume 15, Issue 6, entitled, "Cellular senescence and disrupted proteostasis induced by myotube atrophy are prevented with low-dose metformin and leucine cocktail."

3 Apr 2023

Researchers develop a novel probe for selectively dyeing M1 and M2 macrophages

M1 and M2 are activated macrophages that protect our immune system and maintain homeostasis.

28 Mar 2023

Potential approach to improve solid tumor T cell therapy

Researchers at the Perelman School of Medicine at the University of Pennsylvania have been working on a preclinical study that focuses on a new strategy that uses a “one-two punch” to assist T cells in attacking solid tumors.

17 Mar 2023

A reliable way to downregulate gene translation in plants

By carefully constructing upstream open reading frames (uORFs), Caixia Gao’s team at the Institute of Genetics and Developmental Biology of the Chinese Academy of Sciences (CAS) has created a new technique for downregulating gene translation to a predictable and desirable level in plants.

10 Mar 2023

Study identifies a novel rare mutation in gene linked to Harlequin Ichthyosis

Harlequin ichthyosis (HI) is a severe genetic skin disorder characterized by thick white, brown, or dark brown patches on the skin covering a newborn's entire body. HI has a low incidence of 1 per 300,000 live births but comes with the highest mortality rate among skin conditions. It is caused by a mutation in the ABCA12 gene, which codes for a protein involved in transporting lipids necessary for the formation of the skin barrier. Such protein shortage leads to a weaker epidermal barrier.

9 Mar 2023

Locating genes involved in the metabolism and distribution of human fat

Researchers from the University of Minnesota Medical School and the University of Chicago discovered data identifying “jumping genes”—associated with the distribution of fat in the abdomen—that are connected to a higher risk for health problems from obesity in women.

17 Feb 2023

New database of genotype-phenotype associations for monogenic cardiovascular diseases

Monogenic cardiovascular disease is a genetic disease in which cardiovascular damage is the only or main phenotype. The total current number of patients worldwide exceeds 10 million.

9 Feb 2023

Gaining insights into human disease biology through CRISPR platforms

In this interview, we speak with Laralynne Przybyla about how she is utilizing CRISPR platforms to understand human disease biology in greater detail.

From Society for Laboratory Automation and Screening (SLAS) 7 Feb 2023

Deletion of p16Ink4a cells does not negatively impact β-cell mass and proliferation in mice

A new research paper was published on the cover of Aging (listed as "Aging (Albany NY)" by Medline/PubMed and "Aging-US" by Web of Science) Volume 15, Issue 2, entitled, "Clearance of p16Ink4a-positive cells in a mouse transgenic model does not change β-cell mass and has limited effects on their proliferative capacity."

1 Feb 2023

New technique provides an unlimited supply of patient-derived tissues to study AMD

Scientists used patient stem cells and 3D bioprinting to produce eye tissue that will advance understanding of the mechanisms of blinding diseases.

3 Jan 2023

VUMC’s BioVU achieves deep-freeze storage of more than 300,000 biological samples

BioVU, Vanderbilt University Medical Center's biobank, has reached another milestone -; deep-freeze storage of more than 300,000 biological samples.

20 Dec 2022

Bacteria do engage in photosynthesis, research suggests

Knowing whether or not marine microbes engage in photosynthesis -; the use of sunlight to turn carbon dioxide and water into energy -; could help scientists to learn if ocean bacteria play a role in the global carbon cycle.

25 Oct 2022

Genetic speciation method to make new hybrid species

The evolution of a new species by hybridization from two already described species without a change in chromosome number is very rare in the animal kingdom.

12 Oct 2022

Distinct roles of aging and genetics on expression phenotypes

Research conducted by the University of California, Berkeley, found that individual distinctions in human DNA matter less as people age and become more susceptible to aging disorders like diabetes and cancer.

10 Oct 2022

Genomic research helps in tackling the fatal complications of fungal infections

An important genetic discovery made by a research team led by a University of Massachusetts Amherst scientist sheds new light on the application of the drug caspofungin to treat the deadly fungal infection Aspergillus fumigatus, which claims the lives of about 100,000 severely immunocompromised individuals every year.

7 Oct 2022

Multi-institutional project aims to deepen the understanding of a versatile bioenergy crop

Principal Investigator, Andrea Eveland, Ph.D., associate member at the Donald Danforth Plant Science Center, will lead a multi-institutional project to deepen the understanding of sorghum, a versatile bioenergy crop, and its response to drought.

6 Oct 2022

Researchers make significant improvements to PubCaseFinder, the clinical decision support system

Even medical professionals with years of experience can spend hours researching potential illnesses in reliable medical sources (such as databases, books, and literature) to identify which diseases have phenotypic traits overlapping with the phenotypes of undiagnosed patients.

8 Aug 2022

Gut microbiota plays a major role in alcohol consumption, a new study reveals

According to the findings of a research team conducted by the Complutense University of Madrid (UCM), the various gut microbiota compositions contribute to the explanation of the various patterns of alcohol consumption amongst individuals.

28 Jul 2022

Scientists discover gene editing could potentially enhance wheat grain yield

Scientists have discovered that gene editing of the transcription factor DUO1 can massively improve wheat grain yield.

22 Jul 2022