[HTML][HTML] TIN2 protein dyskeratosis congenita missense mutants are defective in association with telomerase
D Yang, Q He, H Kim, W Ma, Z Songyang - Journal of biological chemistry, 2011 - ASBMB
Dyskeratosis congenita (DC) is a progressive and heterogeneous congenital disorder that
affects multiple systems and is characterized by bone marrow failure and a triad of abnormal
skin pigmentation, nail dystrophy, and oral leukoplakia. One common feature for all DC
patients is abnormally short telomeres and defects in telomere biology. Most of the known
DC mutations have been found to affect core components of the telomerase holoenzyme.
Recently, multiple mutations in the gene encoding the telomeric protein TIN2 have been …
affects multiple systems and is characterized by bone marrow failure and a triad of abnormal
skin pigmentation, nail dystrophy, and oral leukoplakia. One common feature for all DC
patients is abnormally short telomeres and defects in telomere biology. Most of the known
DC mutations have been found to affect core components of the telomerase holoenzyme.
Recently, multiple mutations in the gene encoding the telomeric protein TIN2 have been …