There is 1 paper on MUTANTHIST1H1E in aging research: 1 observational study in people.
1 paper studies it3 findings
See all 1 papers on MUTANTHIST1H1E
At a glance
The findings reach people, from one lab or study. 1 lab in 1 country.
“clinical assessment of a relatively large cohort of subjects sharing these mutations revealed a premature aging phenotype as a previously unrecognized feature of the disorder”
None of its findings points the other way.
- 1 lab in 1 country
- Funders: Associazione Italiana per la Ricerca sul Cancro and others
- Humans1
Effects
2chromatin compaction
downin human cells1
1 study
chromatin compaction
downin human cells1
MUTANTHIST1H1E impairs chromatin compaction in human cells (germline frameshift mutations involving the C-terminal tail of HIST1H1E).
“these mutations result in stable proteins that reside in the nucleus, bind to chromatin, disrupt proper compaction of DNA, and are associated with a specific methylation pattern”
Cellsgermline frameshift mutations involving the C-terminal tail of HIST1H1E
American journal of human genetics
Cellular senescence
upin human cells1
1 study
Cellular senescence
upin human cells1
MUTANTHIST1H1E increases cellular senescence in human cells (germline frameshift mutations involving the C-terminal tail of HIST1H1E).
“Cells expressing these mutant proteins have a dramatically reduced proliferation rate and competence, hardly enter into the S phase, and undergo accelerated senescence.”
Cellsgermline frameshift mutations involving the C-terminal tail of HIST1H1E
American journal of human genetics
Associations
1Premature aging
upin humans1
1 study
Premature aging
upin humans1
MUTANTHIST1H1E is associated with premature aging in humans (germline frameshift mutations involving the C-terminal tail of HIST1H1E).
“clinical assessment of a relatively large cohort of subjects sharing these mutations revealed a premature aging phenotype as a previously unrecognized feature of the disorder”
Humansgermline frameshift mutations involving the C-terminal tail of HIST1H1E
American journal of human genetics