Sentences with phrase «discovered fop»
When she discovered FOP and the work of Frederick Kaplan, a professor of orthopedic surgery at Penn, she realized she had found a puzzle that was «a disease of misregulated cell differentiation,» she says.
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In 2006, Penn researchers led by Kaplan and Eileen Shore, PhD, the Cali - Weldon Professor of FOP Research and a co-author on the current study, discovered how a mutation in the gene for a BMP receptor called Activin Receptor A type I (ACVR1) occurs in all individuals who have classic FOP.
In 2006, researchers discovered the genetic defect behind FOP: A mutated version of the gene ACVR1, which in patients produces an overactive form of a cell surface protein called a transmembrane receptor.
Surprisingly, the scientists discovered that they could create more iPSCs from cells taken from FOP patients than those taken from healthy individuals.
The researchers hoped to create a cellular model to parse the effects of specific gene mutations, according to a press release, but in the process they discovered that skin cells from FOP patients were much more readily converted into iPSCs than cells from healthy individuals.
A recent example is his work in Fibrodysplasia Ossificans Progressiva, where he and his team discovered a novel mechanism that explains important aspects of FOP's pathophysiology and pinpoints a new potential route to therapy.