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Gene mutations
Gene mutations describe a change in the DNA sequence that makes up a gene. There are many kinds of gene mutations which have been characterized by scientists. The main categories of mutations are germline mutations, which occur in the gametes (haploid male or female reproductive cells), and somatic mutations, occur in all other cell types. Chromosomal alterations are mutations that change the structure of chromosomes in a variety of ways such as deletion, duplication, insertion, translocation, or inversion of a section of the chromosome. Point mutations include a single nucleotide change within the DNA and these mutations can be classified as silent (the mutation codes for the same amino acid so the change has no effect), missense (the mutation codes for an alternative amino acid), and nonsense (the mutation codes for a premature stop codon). Frameshift mutations occur when the addition or deletion of nucleotide(s) alter the reading frame of the sequence altering all subsequent amino acid coding.
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FEB 16, 2021
Cell & Molecular Biology
Stem cells can be used to create simplified versions of human organs called organoids, enabling researchers to study how
...
Written By:
Carmen Leitch
FEB 07, 2021
Genetics & Genomics
A protein called Gαo is found at high levels in the brain. Mutations in the gene that encodes Gαo cause dysfunctions in
...
Written By:
Carmen Leitch
FEB 07, 2021
Microbiology
After years of effort, researchers are reporting that there were encouraging results from a phase 1 clinical trial which
...
Written By:
Carmen Leitch
FEB 01, 2021
Cancer
Research published last month in the journal Molecular Pharmaceutics details a new mechanism for delivering pancreatic c
...
Written By:
Kathryn DeMuth Sullivan
JAN 29, 2021
Genetics & Genomics
Humans are far more likely to get several types of cancerous tumors than our closest evolutionary cousins, chimpanzees.
...
Written By:
Carmen Leitch
JAN 28, 2021
Cell & Molecular Biology
These variants can raise, or lower the risk of the disease, and now researchers have learned how they work.
Written By:
Carmen Leitch
JAN 26, 2021
Genetics & Genomics
Scientists have found a way to explain why a heart condition called hypertrophic cardiomyopathy (HCM) can be so differen
...
Written By:
Carmen Leitch
JAN 24, 2021
Genetics & Genomics
Scientists have now characterized a genetic disorder called linkage-specific-deubiquitylation-deficiency-induced embryon
...
Written By:
Carmen Leitch
JAN 22, 2021
Clinical & Molecular DX
Calculating an individual’s risk of developing breast cancer isn’t easy. There’s a complex interplay b
...
Written By:
Tara Fernandes
JAN 20, 2021
Genetics & Genomics
Cancer and genetics are linked; for example, when a cell's genome accumulates mutations it can begin to divide uncon
...
Written By:
Carmen Leitch
JAN 17, 2021
Genetics & Genomics
Kabuki syndrome is a rare multisystemic disorder that causes delays in growth, distinctive facial features, short statur
...
Written By:
Carmen Leitch
JAN 14, 2021
Genetics & Genomics
Identical, or monozygotic twins develop from one egg that splits into 2, so the embryos that develop independently from
...
Written By:
Carmen Leitch
JAN 12, 2021
Cell & Molecular Biology
The most common and deadly form of brain cancer is known as glioblastoma; the median survival time for patients is only
...
Written By:
Carmen Leitch
JAN 11, 2021
Genetics & Genomics
Hutchinson-Gilford progeria syndrome is a rare disorder that impacts around 400 people in the world. Many people have he
...
Written By:
Carmen Leitch
JAN 05, 2021
Genetics & Genomics
The study of the genome once seemed like a straightforward process: a specific short sequence of three nucleotide bases
...
Written By:
Carmen Leitch
JAN 03, 2021
Genetics & Genomics
Genetic errors can drive cancer, often when critical genes like those that control cell division and proliferation becom
...
Written By:
Carmen Leitch
JAN 01, 2021
Genetics & Genomics
It's thought that as many as one in one hundred people are born with a brain disorder known as Chiari 1 malformation, bu
...
Written By:
Carmen Leitch
DEC 31, 2020
Clinical & Molecular DX
Around 1 in 54 children in the U.S. are diagnosed with autism spectrum disorder, or ASD, a broad range of conditions tha
...
Written By:
Tara Fernandes
DEC 30, 2020
Drug Discovery & Development
Currently, around half a billion people suffer from hearing loss around the world. In about half of these cases, genetic
...
Written By:
Annie Lennon
DEC 26, 2020
Clinical & Molecular DX
Precision medicine — a clinical paradigm that tailors treatments specifically to patients based on their genetic a
...
Written By:
Tara Fernandes
DEC 25, 2020
Genetics & Genomics
In scientific research, it's crucial to make comparisons. Therefore, reliable standards and controls are essential for d
...
Written By:
Carmen Leitch
DEC 24, 2020
Drug Discovery & Development
New gene therapy study addresses treatment methods for deafness. "In this study we focused on genetic deafness caus
...
Written By:
Nouran Amin
DEC 24, 2020
Genetics & Genomics
Many types of cells have to be replenished throughout our lives, and cells divide to replace those that are damaged or w
...
Written By:
Carmen Leitch
DEC 24, 2020
Clinical & Molecular DX
Apathy, characterized by a pronounced lack of enthusiasm, motivation, or interest, is a predictor of the future onset of
...
Written By:
Tara Fernandes