Phenotype News and Research

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New Toolbox Assists in the Understanding of Intricate Genetic Traits

Elizabeth King, Associate Professor in the Division of Biological Sciences at the University of Missouri, was inspired to spend her formative years studying science by a lifelong curiosity about the natural world and the diversity of life—and along the way, she discovered her passion for biology.

2 Jun 2023

Research Uncovers the Biology Underpinning a Rare Genetic Mutation Linked to Painlessness

The biology underpinning a rare genetic mutation that allows its carrier to live virtually pain-free, heal more rapidly and experience reduced anxiety and fear, has been uncovered by new research from UCL.

24 May 2023

Novel Map Depicts the Human Body's Highly Complicated System for Repairing DNA Damage

Writing in the May 22, 2023 issue of Cell Systems, a diverse team of scientists, led by researchers at University of California San Diego School of Medicine, have produced a novel map that depicts the human body's enormously complicated and highly evolved system for addressing and repairing DNA damage -; a cause and consequence of many diseases.

23 May 2023

Study Offers New Insights Into Neuroendocrine Transdifferentiation in Breast and Prostate Cancer Biology

A new editorial paper was published in Aging (listed by MEDLINE/PubMed as "Aging (Albany NY)" and "Aging-US" by Web of Science) Volume 15, Issue 8, entitled, "The senescence-associated secretory phenotype induces neuroendocrine transdifferentiation."

15 May 2023

Mutant MRTFB Proteins Associated With Novel Neurodevelopmental Disorder

Researchers at Baylor College of Medicine have linked specific variants or mutations of the gene myocardin-related transcription factor B (MRTFB) with a novel neurodevelopmental disorder.

10 May 2023

Genes Responsible for Aging Identified in Nematodes

The USask research team uncovered a pair of genes involved in removing cells of toxins that build in the body and cause aging while working with small nematode worms called C. elegans. The researchers discovered that inactivating genes named CCF-1 and PAL-1 caused nematodes to die 50% faster than usual.

3 May 2023

First Chronic Wound Murine Model to Profile the Effects of Cellular Senescence

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 8, entitled, "A chronic wound model to investigate skin cellular senescence."

2 May 2023

CloneTracer Reveals a Differentiation Landscape of Acute Myeloid Leukemia

Researchers have developed a new method to distinguish between cancerous and healthy stem cells and progenitor cells from samples of patients with acute myeloid leukemia (AML), a disease driven by malignant blood stem cells that have historically been difficult to identify.

25 Apr 2023

UH Researcher Designs New Model Expressing the Most Common Disease Mutation in USH2A

Usher syndrome, a rare inherited genetic disease, is a leading cause of combined deafness and blindness with type 2A (USH2A) being the most common form.

18 Apr 2023

New Tool can Help Untangle Genetic Factors Associated with Shared Characteristics Among Different Species

Aston University has worked with international partners to develop a software package to help scientists answer key questions about genetic factors associated with shared characteristics among different species.

17 Apr 2023

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

Phenotype News and Research

New Toolbox Assists in the Understanding of Intricate Genetic Traits

Research Uncovers the Biology Underpinning a Rare Genetic Mutation Linked to Painlessness

Novel Map Depicts the Human Body's Highly Complicated System for Repairing DNA Damage

Study Offers New Insights Into Neuroendocrine Transdifferentiation in Breast and Prostate Cancer Biology

Mutant MRTFB Proteins Associated With Novel Neurodevelopmental Disorder

Genes Responsible for Aging Identified in Nematodes

First Chronic Wound Murine Model to Profile the Effects of Cellular Senescence

CloneTracer Reveals a Differentiation Landscape of Acute Myeloid Leukemia

UH Researcher Designs New Model Expressing the Most Common Disease Mutation in USH2A

New Tool can Help Untangle Genetic Factors Associated with Shared Characteristics Among Different Species

Comprehensive Sequencing of the Little Skate Genome

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

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

Potential approach to improve solid tumor T cell therapy

A reliable way to downregulate gene translation in plants

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

Locating genes involved in the metabolism and distribution of human fat

New database of genotype-phenotype associations for monogenic cardiovascular diseases

Gaining insights into human disease biology through CRISPR platforms

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

CITES: Regulating the International Wildlife Trade to Preserve the Viability of Species

How can the adoption of AI technology accelerate drug discovery?

Gaining insights into human disease biology through CRISPR platforms

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