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A picture of pink stained red blood cells.
MBT Desk
4 min read
The ‘heart’ of the Fanconi anemia core complex, composed of FANCB-FANCL-FAAP100 (now FANCX) proteins, allows the rest of the core complex to assemble, and is necessary for downstream DNA repair.
Scientists have discovered that mutations in a single gene could explain a variety of diseases with diverse symptoms. (Pixabay)
Dr. Sruthi Suresh
2 min read
Mutation in the FLVCR1 gene may explain more than 30 different medical conditions
The BRCA1 gene provides instructions for making a protein that acts as a tumor suppressor. Tumor suppressor proteins help prevent cells from growing and dividing too rapidly or in an uncontrolled way.
(unsplash)
MBT Desk
5 min read
Research adds a new twist to prevailing two-hit model of cancer development, offering new insight for prevention and treatment
The rhodopsin gene mutation, called G90D, produces an unusual background electrical “noise” that desensitizes the eye’s rods, those cells in the retina at the back of the eye responsible for nighttime vision, thus causing night blindness. (Representational Image: Unsplash)
MBT Desk
4 min read
Neuroscientists have used genetically engineered mice to address how one mutation in the gene for the light-sensing protein rhodopsin results in congenital stationary night blindness.
The discovery of the essential role of these two key genes could provide the answer to some cases of the most severe forms of male infertility. 
(Representational Image: Unsplash)
MBT Desk
4 min read
Genetic analysis of cases of male infertility revealed that rare mutations in a gene, known as SPOCD1, disrupts the formation of healthy sperm during development.
McCowan’s life has revolved around organ transplants. She’s a doctoral candidate studying human behavior in Dallas who has survived two kidney transplants. (Representational Image: Unsplash)
MBT Desk
3 min read
Vanderbilt University Medical Center (VUMC) researchers have now discovered a protective genetic mutation in Kidney disease
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