Luxturna is the first of a crop of treatments that target diseases caused
by mutations in specific genes, and thus is referred to by many as the first gene therapy in the U.S.
Luxturna is the first gene therapy approved in the U.S. that targets a disease caused
by mutations in a specific gene.
Familial cancer, also known as hereditary cancer is a condition caused
by mutations in specific genes that is passed from parent to child.
Many idiopathic epileptics have inherited epilepsy: epilepsy caused
by a mutation in a specific gene that they inherited from their parents.
Not exact matches
In fact, there are two specific mechanisms for activation of BRAF implicated in PA formation: by fusion of the gene with nearby gene KIAA1549 (K: B fusion) or by point mutations of the BRAF gene itsel
In fact, there are two
specific mechanisms for activation of BRAF implicated
in PA formation: by fusion of the gene with nearby gene KIAA1549 (K: B fusion) or by point mutations of the BRAF gene itsel
in PA formation:
by fusion of the
gene with nearby
gene KIAA1549 (K: B fusion) or
by point
mutations of the BRAF
gene itself.
By also examining this genetic region
in two other families with similar disorders, the researchers were able to pinpoint a
mutation in a
specific gene, NT5E, which is involved
in breaking down calcification
in the arteries.
And while scientists have had some success
in switching off
genes by inserting or deleting random sequences, they have not yet been able to use CRISPR / Cas9 to paste
in (or «knock
in»)
specific new sequences to correct
mutations in T cells.
She found, for example, that
by using a technique called the polymerase chain reaction to amplify
genes, she could detect
mutations or rearrangements
in cancer -
specific genes in irradiated tissue that had turned cancerous.
However, researchers have been frustrated
by the lack of methods to target
mutations to
specific genes in the zebrafish.
Chen, also an expert
in the processes
by which
genes are turned on and off, has pioneered cutting - edge organoid systems that recreate prostate tumors and will allow the team to much more easily test the activity of various drugs against tumors with
specific mutations.
Programmable nucleases, ZFN, TALEN and RGENs enable
gene knockout
in cultured cells and organisms
by producing site -
specific DNA double - strand breaks, whose repair via error - prone non-homologous end joining (NHEJ) or microhomology - mediated end joining (MMEJ) gives rise to frameshift
mutations.
A
specific codon (34)
in U2AF1 harbored missense
mutations in multiple AML tumors, suggesting a gain - of - function for the splicing factor encoded
by that
gene.
These mutant kinases are attractive therapeutic targets, as demonstrated
by the efficacy of imatinib
in BCR - ABL — positive chronic myelogenous leukemia (CML), 5 as well as in MPD associated with activating alleles involving PDGFRA or PDGFRB.2, 6,7 In addition, activating mutations in the FLT3 receptor tyrosine kinase are the most common genetic event in acute myeloid leukemia (AML), and specific inhibitors of the FMS - like tyrosine kinase 3 (FLT3) have entered late - stage clinical trials.8 Although mutations in tyrosine kinases and in other genes have been identified in a subset of MPD and AML, in many cases the genetic events that contribute to the molecular pathogenesis of these diseases remain unknow
in BCR - ABL — positive chronic myelogenous leukemia (CML), 5 as well as
in MPD associated with activating alleles involving PDGFRA or PDGFRB.2, 6,7 In addition, activating mutations in the FLT3 receptor tyrosine kinase are the most common genetic event in acute myeloid leukemia (AML), and specific inhibitors of the FMS - like tyrosine kinase 3 (FLT3) have entered late - stage clinical trials.8 Although mutations in tyrosine kinases and in other genes have been identified in a subset of MPD and AML, in many cases the genetic events that contribute to the molecular pathogenesis of these diseases remain unknow
in MPD associated with activating alleles involving PDGFRA or PDGFRB.2, 6,7
In addition, activating mutations in the FLT3 receptor tyrosine kinase are the most common genetic event in acute myeloid leukemia (AML), and specific inhibitors of the FMS - like tyrosine kinase 3 (FLT3) have entered late - stage clinical trials.8 Although mutations in tyrosine kinases and in other genes have been identified in a subset of MPD and AML, in many cases the genetic events that contribute to the molecular pathogenesis of these diseases remain unknow
In addition, activating
mutations in the FLT3 receptor tyrosine kinase are the most common genetic event in acute myeloid leukemia (AML), and specific inhibitors of the FMS - like tyrosine kinase 3 (FLT3) have entered late - stage clinical trials.8 Although mutations in tyrosine kinases and in other genes have been identified in a subset of MPD and AML, in many cases the genetic events that contribute to the molecular pathogenesis of these diseases remain unknow
in the FLT3 receptor tyrosine kinase are the most common genetic event
in acute myeloid leukemia (AML), and specific inhibitors of the FMS - like tyrosine kinase 3 (FLT3) have entered late - stage clinical trials.8 Although mutations in tyrosine kinases and in other genes have been identified in a subset of MPD and AML, in many cases the genetic events that contribute to the molecular pathogenesis of these diseases remain unknow
in acute myeloid leukemia (AML), and
specific inhibitors of the FMS - like tyrosine kinase 3 (FLT3) have entered late - stage clinical trials.8 Although
mutations in tyrosine kinases and in other genes have been identified in a subset of MPD and AML, in many cases the genetic events that contribute to the molecular pathogenesis of these diseases remain unknow
in tyrosine kinases and
in other genes have been identified in a subset of MPD and AML, in many cases the genetic events that contribute to the molecular pathogenesis of these diseases remain unknow
in other
genes have been identified
in a subset of MPD and AML, in many cases the genetic events that contribute to the molecular pathogenesis of these diseases remain unknow
in a subset of MPD and AML,
in many cases the genetic events that contribute to the molecular pathogenesis of these diseases remain unknow
in many cases the genetic events that contribute to the molecular pathogenesis of these diseases remain unknown.
There are two general types of resistance
genes found
in wheat: Race -
specific genes confer a high - level of resistance to
specific strains of leaf rust but can be easily overcome
by genetic
mutation in pathogen populations, while slow rusting (APR) resistance provides partial resistance to a broad spectrum of races, but is typically effective only at the adult stage of plant growth.
The focus of the conference was connecting how epigenetics (cellular and physiological phenotypic trait variations that are caused
by external or environmental factors that switch
genes on and off and affect how cells read
genes instead of being caused
by changes
in the DNA sequence —
in other words nutrition and lifestyle choices) impact whether or not an individual actually develops a
specific health issue even though they have a SNP
mutation.