Figure 1: Identification and location of hTR mutations. Bone marrow failure in X-linked and hTR-related dyskeratosis congenita is due to a defect in telomerase activity. Healthy blood cells would ...

Dyskeratosis congenita is a genetic condition that affects many parts of the body and in particular, the nails, skin and mucosal membranes. The condition is usually inherited in an X-linked ...

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.

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 ...

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 ...

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 ...

The study evaluated a reduced-intensity conditioning regimen without total body irradiation for alloHCT in DC/TBD patients. Non-TBI patients showed similar graft failure, GVHD, and overall ...

to EXG-34217 for the treatment of patients with dyskeratosis congenita and related telomere biology disorders (DC/TBD). EXG-34217 is comprised of autologous CD34+ hematopoietic stem cells (HSCs ...

"Not even one," said Leia's mother Shonna Fallico. Leia suffers from dyskeratosis congenita, which impairs the bone marrow's ability to create blood cells. A severe case can lead to leukemia ...