Phenotype News and Research

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Scientists identify animal model to study human musculoskeletal aging

There are many components to aging, both mental and physical. When it comes to the infrastructure of the human body - the musculoskeletal system that includes muscles, bones, tendons and cartilage - age-associated decline is inevitable, and the rate of that decline increases the older we get.

14 Jan 2021

New taxonomic classification of non-skeletal rare congenital disorders with impact on bone physiology

Thanks to major progress in the understanding and management of rare congenital diseases and syndromes, many patients with these rare disorders are now living longer lives.

13 Jan 2021

Study finds association between severity of COVID-19 and shorter telomeres

Patients with severe COVID-19 disease have significantly shorter telomeres, according to a study conducted by researchers at the Spanish National Cancer Research Centre in collaboration with the COVID-IFEMA Field Hospital, published in the journal Aging.

11 Jan 2021

Vanderbilt researcher proposes an explanatory paradigm for the cause of autism

A unifying explanation of the cause of autism and the reason for its rising prevalence has eluded scientists for decades, but a theoretical model published in the journal Medical Hypotheses describes the cause as a combination of socially valued traits, common in autism, and any number of co-occurring disabilities.

8 Jan 2021

ACE2 receptor is responsible for the wide host range of SARS-CoV-2

The severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) is thought to have a zoonotic origin, perhaps originating in a bat coronavirus with an unknown intermediate host. It is not only very infectious but has been found to infect a wide range of mammals, including dogs, cats, ferrets, hamsters, and minks, besides non-human primates. This range may be still higher, claims a recent preprint that appeared in January 2021 on the bioRxiv server.

6 Jan 2021

Scientist receives $1.37 million grant to advance metabolomics data

The National Institutes of Health (NIH) has awarded University of Massachusetts Amherst biostatistician Raji Balasubramanian a four-year, $1.37 million grant to advance the analysis of data from metabolomics research.

5 Jan 2021

SARS-CoV-2 infected alveolar type-II lung cells show senescence

Using monoclonal antibodies against the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) spike protein and senescent markers, researchers provide evidence that virus-infected lung cells acquire characteristics of cellular senescence, which also leads to expression of proinflammatory cytokines.

5 Jan 2021

Researchers develop a gene signature for predicting survival in patients with peritoneal carcinomatosis

Researchers from The University of Texas MD Anderson Cancer Center who profiled more than 45,000 individual cells from patients with peritoneal carcinomatosis (PC), a specific form of metastatic gastric cancer, defined the extensive cellular heterogeneity and identified two distinct subtypes correlated with patient survival.

4 Jan 2021

Sustained immune dysregulation due to COVID-19 in non-hospitalized patients

COVID-19, which has killed 1.7 million people worldwide, does not follow a uniform path.

29 Dec 2020

Forward genetics used to identify gene linked to autism spectrum disorder

UT Southwestern scientists have adapted a classic research technique called forward genetics to identify new genes involved in autism spectrum disorder (ASD).

23 Dec 2020

COVID-19 severity could be linked to genetic variance

A new study describes some potentially important genetic factors in the host that may shape the clinical symptoms and signs of the disease.

23 Dec 2020

Study shows neuropeptide corazonin regulates the release of diapause hormone in silkworms

Diapause is a seasonal adaptation strategy of insects and animals where biological functions are put on hold, such as insect eggs that remain dormant until conditions are more favorable to hatch.

21 Dec 2020

FAT1 mutations act as tumor suppressor and prevent cancer development, indicates study

Cancer metastasis, which is the dissemination of tumor cells into distant organs, is the leading cause of mortality in cancer patients. To undergo metastasis, cells must leave the primary tumor, circulate into the blood, colonize distant organs, and form distant metastasis.

17 Dec 2020

Hybrid approach reveals details about genes involved in Meier-Gorlin syndrome

Meier-Gorlin syndrome, or MGS, is a rare genetic developmental disorder that causes dwarfism, small ears, a small brain, missing patella and other skeletal abnormalities. In severe cases, MGS results in miscarriages and stillbirths.

14 Dec 2020

Antiepileptic drug reduces early signs of clinical dysfunction in people with ALS

The antiepileptic drug ezogabine reduced pathologic excitability of cortical and spinal motor neuron cells that are early signs of clinical dysfunction in people with amyotrophic lateral sclerosis (ALS), according to a study conducted by the Neurological Clinical Research Institute of Massachusetts General Hospital.

10 Dec 2020

Reverse phenotyping shows reactive T cell profiles in SARS-CoV-2 infection

A new study appearing as a preprint on the medRxiv* browser in December 2020 employs reverse phenotyping technology to explore T cell responses in COVID-19.

10 Dec 2020

Study elucidates the link between oxytocin gene methylation and parental empathy

Parenting behavior is deeply linked to the ability to empathize with one’s children. Thus, to better understand why certain parents react to certain situations in a certain way, it is crucial to gain insight into how empathy is shaped.

8 Dec 2020

New study finds link between gestational age and ADHD in children with Down syndrome

A new study by the UC Davis MIND Institute finds a connection between gestational age and attention deficit/hyperactivity disorder (ADHD) symptoms in children with Down syndrome.

4 Dec 2020

Virus induced lymphocytes show promise for COVID-19 and future pandemics

Researchers in the United States have conducted a study demonstrating the potential of a novel therapeutic approach to treating coronavirus disease 2019 (COVID-19). The therapy augments the body’s T cell response to the causative agent severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) by providing a boost of rapidly expanded virus-specific T cells.

30 Nov 2020

TB researchers uncover crucial clue that explains antibiotic resistance in bacteria

For a slow-growing microbe that multiplies infrequently, Mycobacterium tuberculosis, the pathogen that causes tuberculosis (TB) has long puzzled researchers as to how it develops resistance to antibiotics so quickly, in a matter of weeks to months.

18 Nov 2020