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Flow-FISH can measure the telomere length in ... The childhood syndrome dyskeratosis congenita is characterized clinically by the mucocutaneous triad of nail dystrophy (Panel A), reticular skin ...
This may, in some cases, lead to increased morbidity and mortality. Flow-FISH and Q-FISH measurement of leucocyte telomere length are currently only available as a diagnostic method in a few labs ...
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 ...
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.
Telomere shortening and loss of self-renewal in dyskeratosis congenita induced pluripotent stem cells. Nature , 2011; DOI: 10.1038/nature10084 Cite This Page : ...
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 ...
Dyskeratosis congenita, or DC, is a rare, inherited disease for which there are limited treatment options and no cure. Typically diagnosed in childhood, the disorder causes stem cells to fail ...