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- W2023875413 startingPage "43" @default.
- W2023875413 abstract "Since 1998, there have been great advances in our understanding of the pathogenesis of dyskeratosis congenita (DC), a rare inherited bone marrow failure and cancer predisposition syndrome with prominent mucocutaneous abnormalities and features of premature aging. DC is now characterized molecularly by the presence of short age-adjusted telomeres. Mutations in seven genes have been unequivocally associated with DC, each with a role in telomere length maintenance. These observations, combined with knowledge that progressive telomere shortening can impose a proliferative barrier on dividing cells and contribute to chromosome instability, have led to the understanding that extreme telomere shortening drives the clinical features of DC. However, some of the genes implicated in DC encode proteins that are also components of H/ACA-ribonucleoprotein enzymes, which are responsible for the post-translational modification of ribosomal and spliceosomal RNAs, raising the question whether alterations in these activities play a role in the pathogenesis of DC. In addition, recent reports suggest that some cases of DC may not be characterized by short age-adjusted telomeres. This review will highlight our current knowledge of the telomere length defects in DC and the factors involved in its development." @default.
- W2023875413 created "2016-06-24" @default.
- W2023875413 creator A5042368633 @default.
- W2023875413 creator A5075275922 @default.
- W2023875413 date "2012-02-01" @default.
- W2023875413 modified "2023-10-09" @default.
- W2023875413 title "Dyskeratosis congenita as a disorder of telomere maintenance" @default.
- W2023875413 cites W1612842202 @default.
- W2023875413 cites W1693031468 @default.
- W2023875413 cites W1927581912 @default.
- W2023875413 cites W1955222620 @default.
- W2023875413 cites W1964235601 @default.
- W2023875413 cites W1965035358 @default.
- W2023875413 cites W1970501424 @default.
- W2023875413 cites W1970891016 @default.
- W2023875413 cites W1972655555 @default.
- W2023875413 cites W1975274204 @default.
- W2023875413 cites W1975706614 @default.
- W2023875413 cites W1976273464 @default.
- W2023875413 cites W1981316458 @default.
- W2023875413 cites W1981820040 @default.
- W2023875413 cites W1985641439 @default.
- W2023875413 cites W1989163571 @default.
- W2023875413 cites W1992590678 @default.
- W2023875413 cites W1998314264 @default.
- W2023875413 cites W1998335196 @default.
- W2023875413 cites W1998663807 @default.
- W2023875413 cites W2002921487 @default.
- W2023875413 cites W2003709867 @default.
- W2023875413 cites W2004007316 @default.
- W2023875413 cites W2004293444 @default.
- W2023875413 cites W2005083925 @default.
- W2023875413 cites W2006978909 @default.
- W2023875413 cites W2008814693 @default.
- W2023875413 cites W2010554489 @default.
- W2023875413 cites W2011059381 @default.
- W2023875413 cites W2011221227 @default.
- W2023875413 cites W2014414194 @default.
- W2023875413 cites W2015177453 @default.
- W2023875413 cites W2019404719 @default.
- W2023875413 cites W2021061167 @default.
- W2023875413 cites W2022653829 @default.
- W2023875413 cites W2025843494 @default.
- W2023875413 cites W2027931017 @default.
- W2023875413 cites W2028639737 @default.
- W2023875413 cites W2033535804 @default.
- W2023875413 cites W2033578773 @default.
- W2023875413 cites W2033942199 @default.
- W2023875413 cites W2034022379 @default.
- W2023875413 cites W2035467544 @default.
- W2023875413 cites W2037236933 @default.
- W2023875413 cites W2039080267 @default.
- W2023875413 cites W2043204829 @default.
- W2023875413 cites W2044758458 @default.
- W2023875413 cites W2047816315 @default.
- W2023875413 cites W2048799116 @default.
- W2023875413 cites W2051227660 @default.
- W2023875413 cites W2052066518 @default.
- W2023875413 cites W2054632884 @default.
- W2023875413 cites W2057373218 @default.
- W2023875413 cites W2058286861 @default.
- W2023875413 cites W2060453640 @default.
- W2023875413 cites W2068409711 @default.
- W2023875413 cites W2070822714 @default.
- W2023875413 cites W2073343115 @default.
- W2023875413 cites W2075642561 @default.
- W2023875413 cites W2076245313 @default.
- W2023875413 cites W2077302783 @default.
- W2023875413 cites W2080552287 @default.
- W2023875413 cites W2082435463 @default.
- W2023875413 cites W2084017895 @default.
- W2023875413 cites W2085928948 @default.
- W2023875413 cites W2087249772 @default.
- W2023875413 cites W2090355482 @default.
- W2023875413 cites W2096349500 @default.
- W2023875413 cites W2097618972 @default.
- W2023875413 cites W2101014559 @default.
- W2023875413 cites W2101901224 @default.
- W2023875413 cites W2105258094 @default.
- W2023875413 cites W2106341826 @default.
- W2023875413 cites W2107042037 @default.
- W2023875413 cites W2107665433 @default.
- W2023875413 cites W2111723163 @default.
- W2023875413 cites W2115176808 @default.
- W2023875413 cites W2115652612 @default.
- W2023875413 cites W2116158024 @default.
- W2023875413 cites W2116282320 @default.
- W2023875413 cites W2116490988 @default.
- W2023875413 cites W2126360553 @default.
- W2023875413 cites W2130141211 @default.
- W2023875413 cites W2131117544 @default.
- W2023875413 cites W2131549919 @default.
- W2023875413 cites W2140057335 @default.
- W2023875413 cites W2142087742 @default.
- W2023875413 cites W2145949861 @default.
- W2023875413 cites W2147238277 @default.
- W2023875413 cites W2148197898 @default.
- W2023875413 cites W2150490516 @default.