COLLINS, Francis Sellers (1950 – )

1989 CE

#13568

Identification of the cystic fibrosis gene: Chromosome walking and jumping.

Utilizing the chromosome "walking and and jumping" technique developed by Collins, the authors showed how they cloned the cystic fibrosis locus on the basis of its chromosomal location without the benefit of genomic r…

1989 CE

#13569

Identification of the cystic fibrosis gene: Cloning and characterization of complimentary DNA.

The authors first published a ‘map’ of the cystic fibrosis (CF) gene and on p. 1071, they published an illustration/schematic model of the predicted CFTR (cystic fibrosis transmembrane conductance regulato…

2003 CE

#14217

Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome.

The authors showed that mutations in lamin A (LMNA) are the cause of Hutchinson-Gilford progeria sundrom (HGPS). At the end of their abstract they stated that "The discovery of the molecular basis of this disease may …

2021 CE

#14218

In vivo base editing rescues Hutchinson-Gilford progeria syndrome in mice.

Using the base editor enzyme developed by Liu (GM11865), the authors report that they can “correct the pathogenic HGPS mutation in cultured fibroblasts derived from children with progeria and in a mouse model of…