X chromosome News and Research

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Neuroscientists map brain's sensory gatekeeper in unprecedented detail

Many people with autism experience sensory hypersensitivity, attention deficits, and sleep disruption. One brain region that has been implicated in these symptoms is the thalamic reticular nucleus (TRN), which is believed to act as a gatekeeper for sensory information flowing to the cortex.

22 Jul 2020

Researchers identify specific target sites for DNA methylases

DNA methylation performs an essential function in mammalian ontogeny. It is also known that abnormalities in this process cause the development of cancers such as leukemia.

22 Jul 2020

Scientists discover osmotic stress as stimulator of cellular waste disposal

Cellular waste disposal, where autophagy and lysosomes interact, performs elementary functions, such as degrading damaged protein molecules, which impair cellular function, and reintroducing the resulting building blocks such as amino acids into the metabolic system.

29 Jun 2020

ACE inhibition in kidney could influence pathogenesis of SARS-CoV-2

The dynamics of angiotensin-converting enzyme 2 (ACE2) expression in the kidney could have implications for the infectivity and pathogenicity of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), say researchers.

24 Jun 2020

Evidence of link between ACE2 genotype and COVID-19 disease severity

A new study published on the preprint server medRxiv in June 2020 shows that variants in the ACE2 gene which encodes the enzyme receptor for severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), the virus that causes COVID-19 disease, are linked to the risk of severe disease.

24 Jun 2020

MGH researchers identify key mechanism in X chromosome inactivation

Researchers at Massachusetts General Hospital have identified a key mechanism in X chromosome inactivation, a phenomenon that may hold clues that lead to treatments for certain rare congenital disorders.

12 Jun 2020

Study sheds light on homologous recombination of DNA strands

As chromosomes go, X and Y make an unlikely pair. The X is large and contains thousands of genes critical for life. The Y, by contrast, is little more than a nub.

29 May 2020

Mouse model mimics clinical course and pathology observed in COVID-19 patients

A mouse model of infection with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) reproduces features observed in human patients, researchers report May 26 in the journal Cell Host & Microbe.

27 May 2020

Researchers use “gene drive” technology to eliminate malaria mosquitoes in lab experiments

A modification that creates more male offspring was able to eliminate populations of malaria mosquitoes in lab experiments.

13 May 2020

Study provides more insight into the initiation and progression of human cancers

Volume 11, Issue 18 of @Oncotarget Clinical implications of chromatin accessibility assessed by ATAC-seq profiling in human cancers especially in a large patient cohort is largely unknown.

6 May 2020

COVID-19 infection risk and outcomes explained by the cell receptor genetic variability

Genetic variants in the angiotensin‐converting enzyme 2 (ACE2) receptor, utilized by the severe acute respiratory syndrome coronavirus 2 (SARS‐CoV‐2) for cell entry, are predicted to either encourage or inhibit interaction with viral proteins and subsequently contribute to genetic risk in coronavirus disease (COVID-19). This is the key finding of a new study available on the preprint server bioRxiv*.

5 May 2020

New study offers clues to why autism is more common in boys than in girls

A new study in Neuron offers clues to why autism spectrum disorder is more common in boys than in girls. National Institutes of Health scientists found that a single amino acid change in the NLGN4 gene, which has been linked to autism symptoms, may drive this difference in some cases.

2 Apr 2020

Recognizing CDKL5 Deficiency Disorder

News-Medical speaks to Dr. Dan Lavery about the LouLou Foundation, a non-profit organization dedicated to CDLK5 Deficiency Disorder.

17 Mar 2020

Researchers probe how specific genes can impact early brain development

When brains begin developing, there are a lot of moving parts -- and when mutations happen in early neurodevelopment, it can lead to disorders like macrocephaly and autism.

11 Mar 2020

Why do women live longer?

It has been a widespread belief that men live a shorter life due to lifestyle choices, such as smoking and drinking alcohol. But a new study shows that men are genetically predisposed to dying younger because their Y chromosome is unable to protect an unhealthy X chromosome.

9 Mar 2020

Minigenes produced by CRISPR combat liver disease in mice

A new gene-editing technique based on CRISPR was used to successfully avoid the development of a liver disease that can be caused by hundreds of mutations, as well as to ease the symptoms in mice. This proof-of-concept study was published online in the journal Science Advances in February 2020.

12 Feb 2020

Research provides new insights into molecular basis of X-chromosome inactivation

Researchers at the European Molecular Biology Laboratory in Heidelberg and Institut Curie in Paris have shown that the protein SPEN plays a crucial role in the process of X-chromosome inactivation, whereby female mammalian embryos silence gene expression on one of their two X chromosomes.

7 Feb 2020

Coronavirus could spread explosively, tight control needed

The coronavirus may be taking a higher toll of life than we thought, say scientists, in a new study published on January 30, 2020, in The Lancet. But another startling new study based on mathematical modeling, published in the same journal, predicts that almost 76,000 people may have acquired the infection in Wuhan city, and that multiple epidemics in major connected cities inside and outside China may already be brewing. Yet the death rate is markedly low, in this case.

3 Feb 2020

Successful gene therapy trial in patients with X-linked Chronic Septic Granulomatosis

American and British teams led by Drs Kohn (University of California, Los Angeles), Malech (NIH), Williams (Boston Children's) and Trasher (Great Ormond Street Institute of Child Health) published yesterday in Nature Medicine the conclusive results of a gene therapy trial conducted in the United States and Great Britain in 9 patients with X-linked Chronic Septic Granulomatosis (X-CGD), a rare and severe immune dysfunction. Six of them are free of treatment for complications generated by the disease.

28 Jan 2020

New gene correction therapy for hereditary muscular disease among children

Duchenne type muscular dystrophy is the most common hereditary muscular disease among children, leaving them wheelchair-bound before the age of twelve and reducing life expectancy.

27 Jan 2020