MSCs were discovered originally in the bone marrow but later described in many tissues [ 21, 22].
ABCA4 mutations were originally discovered in patients with autosomal recessive Stargardt disease (SD) but shortly thereafter were also found to cause cone dystrophy, cone-rod dystrophy (CRD) and retinitis pigmentosa (RP), suggesting that a predictable relationship may exist between ABCA4 genotype and disease severity (5– 10).
It is a Comice mutation first discovered in 1986 in an orchard on New Zealand's South Island.
The mutation was discovered in 1917, by Thomas Hunt Morgan, an American biologist who revealed the importance of chromosomes in heredity.
Tiranti et al originally discovered ETHE1 mutations as causative of an atypical mitochondrial disease clinical phenotype, involving microangiopathy, diarrhea, and progressive early-onset encephalopathy, associated with mitochondrial cytochrome c oxidase (COX) deficiency.
For example, the GroEL/GroES chaperone machine of E. coli was originally discovered through host mutations that block the propagation of certain bacteriophages (reviewed in Friedman et al. 1984; Ang et al. 2000; Georgopoulos 2006).
In S. cerevisiae, S EC6 was originally discovered as a temperature-sensitive secretion mutation (4 – 6).
Point mutations in the IDH1 and IDH2 genes, originally discovered in 2008, occur in the vast majority of low-grade gliomas (>80%) and secondary high-grade gliomas.
E. coli possesses two phosphofructokinases, and PfkB/Pfk-2 was originally discovered as a suppressor of a PfkA/Pfk-1 mutation [ 28, 29].
Adenomatous polyposis coli (Apc) was originally discovered as a tumor suppressor gene, and loss of function mutation of Apc results in colon cancer [ 3].
