Mutation News and Research

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Stem cell strategy can help improve the effectiveness of cardiac repair

Human stem cells have been typically perceived as one of the potential cell sources for cardiac regeneration treatment. However, the substandard performance following transplantation into the failing hearts has limited their applications in clinical use.

30 Mar 2020

Large mutations may explain diverse outcomes from autism genes

Scientists have recently discovered large mutations that may explain diverse outcomes from autism genes and this story investigates further.

25 Mar 2020

Researchers capture occurrence of bursts of diversity in microbiota in real time

Researchers led by Isabel Gordo have captured, in real time, the occurrence of spurts of diversity in the microbiota, which is induced by bacterial cells that have mutation rates analogous to cancer cells.

13 Mar 2020

Study finds impact of specific gene on neurodevelopment, causing ASD and macrocephaly

During the developmental phase of brains, a number of moving parts occur—and if mutations occur during the early neurodevelopment, it can result in disorders such as autism and macrocephaly.

12 Mar 2020

New canine study can benefit diagnostics and treatment of retinitis pigmentosa

A study performed on canines at the University of Helsinki characterizes a gene variant in the regulatory region of the retina that causes abnormal functioning of retinal genes and, ultimately, leads to loss of vision in dogs.

11 Mar 2020

Researchers successfully crystallize and map novel conformation of LeuT transporter

Researchers at the University of Copenhagen have mapped a novel structure of what is called a “neurotransmitter: sodium symporter.”

9 Mar 2020

New method has revealed how cells communicate

A new light technique has been developed by a team of researchers in the UK that can reveal how cells communicate in disease scenarios.

27 Feb 2020

Distinct loss-of-function variants cause shared clinical features in neuronal development disorders

Researchers have shown that mutations in four distinct genes that lead to Kleefstra syndrome.

20 Feb 2020

Considering evolution of the cancer genome in metastatic disease

Metastasis refers to the spread of cancer cells from primary tumors to distant sites that they then colonize to form a metastatic tumor.

13 Feb 2020