Sentences with phrase «dyskeratosis congenita»
Dysfunction in telomere maintenance pathways plays an integral role in aging, cancer, and certain rare diseases such as dyskeratosis congenita (DC).
sciencemag.org
For now, the only diseases clearly caused by shortened telomeres or dysfunctional telomerase are rare premature aging disorders like dyskeratosis congenita.
This is the first trial reporting successful transplant in dyskeratosis congenita (DC) patients without the use of any radiation or conventional cytotoxic chemotherapy beforehand.
The facility's goal is to develop and maintain standardized iPSCs lines specific to a variety of rare inherited diseases — not only DBA and JMML, but also dyskeratosis congenita, congenital dyserythropoietic anemia, thrombocytopenia absent radii (TAR), Glanzmann's thrombasthenia and Hermansky - Pudlak syndrome.
«One of our killifish mutants recapitulates, but in a rapid manner, a human disease called Dyskeratosis congenita, which is due to deficits in a complex involved in maintaining the end of chromosomes, or telomeres,» says lead author Dr. Itamar Harel, a postdoctoral research fellow in genetics.
Human diseases that include dyskeratosis congenita, aplastic anemia, and idiopathic pulmonary fibrosis have been genetically linked to mutations that negatively affect telomerase activity and / or accelerate the loss of telomere length.
Dr. Agarwal is currently interested in the mechanisms and therapy of genetic blood diseases, with a focus on dyskeratosis congenita.
Mice expressing p53Δ31, a mutant p53 lacking the C terminus, model dyskeratosis congenita.
«Germline mutations affecting telomere maintenance or DNA repair may, respectively, cause dyskeratosis congenita or Fanconi anaemia, two clinically related bone marrow failure syndromes.
Genetic and molecular processes underlying telomere diseases such as cancer and dyskeratosis congenita
Another is dyskeratosis congenita, a rare bone marrow disorder accompanied by much more serious effects such as early aging and predisposition to cancer.