Isolates were tested for drug susceptibility and resistant isolates were investigated for mutations
analysis in the 'hot spot regions' of rpoB, rpsL, embB, pncA, gyrA and gyrB genes.
2) In recent years, additional genetic factors such as the mutations
of IDH1/2, TET2, EZH2, ASXL1, and CALR have been identified in Ph-negative MPNs.
Amongst others, mutations
in GPR54 and GnRH receptor (GNRHR) are possible causes of HH.
Background: Dysferlinopathy is caused by mutations
in the dysferlin (DYSF) gene.
This is the first FDA-approved, blood-based genetic test that can detect epidermal growth factor receptor (EGFR) gene mutations
in non-small cell lung cancer (NSCLC).
April 14, 2016 -- Scientists here have confirmed the longstanding hypothesis that as people age, they accumulate gene mutations
in their mitochondria, the cell's energy source.
Microbes can reveal which mutations
colon cancers carry.
M2 PHARMA-September 4, 2014-Myriad Genetics' myRisk Hereditary Cancer test improves by 46% detection of cancer-causing mutations
Washington, August 26 ( ANI ): A group of researchers have made a significant breakthrough for figuring out which mutations
are benign and which are deleterious in cystic fibrosis.
Recently MPL mutations
(MPL W515L or MPL W515K) were described in patients with essential thrombocythemia (ET) and primary (idiopathic) myelofibrosis (PMF).
Analysis for known and novel mutations
in these areas of the gene was performed first by unidirectional sequencing followed by confirmation of all observed potential sequence changes in the opposite direction.
Researchers have discovered that women who do not have a BRCA1 or BRCA2 gene mutation
but have a female first-degree relative (mother, sister, or daughter) with a BRCA mutation
do not have an increased risk of breast cancer compared to women with no personal or familial mutations