Aplastic anaemia is a rare but serious blood disorder in which the bone marrow fails to produce enough blood cells—red blood cells, white blood cells, and platelets. This condition can lead to fatig ...

One of the telomere disorders frequently resulting from the condition is known as dyskeratosis congenita, which can lead to bone marrow failure and affect the skin and other organs. Research by ...

Early findings showed EXG-34217 successfully lengthened CD34+ cell telomeres by 1.24-fold ex vivo in a patient with dyskeratosis congenita, a telomere biology disorder that can lead to bone marrow ...

TBDs, such as dyskeratosis congenita, can lead to serious conditions including bone marrow failure due to severely affecting the ability of hematopoietic stem cells (HSCs) to produce blood cells.

In human rRNA, at least 104 specific uridine residues are modified to pseudouridine. Many of these pseudouridylation sites are located within functionally important ribosomal domains and can influence ...

One type of myotonia is Becker disease, also called recessive myotonia congenita. This is a genetic condition that causes muscle stiffness as a result of involuntary muscle activity. Patients may also ...

We conducted a comprehensive retrospective review of electronic medical records from outside facilities and those available at Texas Children's Hospital (Houston). All the co-authors were aware of the ...

We dissected the importance of human telomerase biogenesis and trafficking pathways for telomere maintenance. Biological stability of human telomerase RNA (hTR) relies on H/ACA proteins, but other ...