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A link between telomeres and a molecular signaling cascade called the Wnt pathway has been identified by researchers, which may point to a treatment option for dyskeratosis congenita patients.
The childhood syndrome dyskeratosis congenita is characterized clinically by the mucocutaneous triad of nail dystrophy (Panel A), reticular skin hyperpigmentation or hypopigmentation (Panel B ...
Dyskeratosis congenita is an inherited human disease from which sufferers die between the ages of 16 and 50. Problems tend to occur in tissues in which cells multiply rapidly — skin, nails, hair ...
Telomere shortening and loss of self-renewal in dyskeratosis congenita induced pluripotent stem cells. Nature , 2011; DOI: 10.1038/nature10084 Cite This Page : ...
Gene testing revealed a pathogenic DKC1 mutation (A353V), and over the following 10 years he developed esophageal and urethral strictures, retinal hemorrhages and osteopenia. At 10 years of age ...
This process is linked to aging and disease, including a rare genetic disease called dyskeratosis congenita (DC). This is caused by the premature aging of cells and is where the team focused its ...
Dyskeratosis congenita (DKC) is a rare condition marked by progressive failure of the bone marrow, the spongy tissue inside the bones that is essential for the production of new cells. The cells that ...
Telomeres shorten steadily as we age, but in certain medical conditions like dyskeratosis congenita, the process is accelerated. "Your telomeres determine your lifeline; how long they are ...
Germ-line mutations in the genes hTERT and hTR, encoding telomerase reverse transcriptase and telomerase RNA, respectively, cause autosomal dominant dyskeratosis congenita, a rare hereditary ...