Matches in SemOpenAlex for { <https://semopenalex.org/work/W2100031402> ?p ?o ?g. }
- W2100031402 endingPage "2783" @default.
- W2100031402 startingPage "2775" @default.
- W2100031402 abstract "Our understanding of the pathophysiology of aplastic anemia is undergoing significant revision, with implications for diagnosis and treatment. Constitutional and acquired disease is poorly delineated, as lesions in some genetic pathways cause stereotypical childhood syndromes and also act as risk factors for clinical manifestations in adult life. Telomere diseases are a prominent example of this relationship. Accelerated telomere attrition is the result of mutations in telomere repair genes and genes encoding components of the shelterin complex and related proteins. Genotype-phenotype correlations show genes responsible for X-linked (DKC1) and severe recessive childhood dyskeratosis congenita, typically with associated mucocutaneous features, and others (TERC and TERT) for more subtle presentation as telomeropathy in adults, in which multiorgan failure may be prominent. Telomerase mutations also are etiologic in familial pulmonary fibrosis and cryptic liver disease. Detection of a telomere disease requires awareness in the clinic, appropriate laboratory testing of telomere content, and genetic sequencing. In treatment decisions, genetic screening of related donors for hematopoietic stem cell transplantation is critical, and androgen therapy may be helpful. Telomeres shorten normally with aging, as well as under environmental circumstances, with regenerative stress and oxidative damage. Telomere biology is complexly related to oncogenesis: telomere attrition is protective by enforcing senescence or apoptosis in cells with a long mitotic history, but telomere loss also can destabilize the genome by chromosome rearrangement and aneuploidy." @default.
- W2100031402 created "2016-06-24" @default.
- W2100031402 creator A5015491576 @default.
- W2100031402 creator A5072063614 @default.
- W2100031402 creator A5080201916 @default.
- W2100031402 date "2014-10-30" @default.
- W2100031402 modified "2023-10-14" @default.
- W2100031402 title "Bone marrow failure and the telomeropathies" @default.
- W2100031402 cites W145374340 @default.
- W2100031402 cites W1490072157 @default.
- W2100031402 cites W1496836853 @default.
- W2100031402 cites W1600373583 @default.
- W2100031402 cites W1676646253 @default.
- W2100031402 cites W1693031468 @default.
- W2100031402 cites W1868105988 @default.
- W2100031402 cites W1927581912 @default.
- W2100031402 cites W1973305610 @default.
- W2100031402 cites W1973637908 @default.
- W2100031402 cites W1974491244 @default.
- W2100031402 cites W1975706614 @default.
- W2100031402 cites W1977437036 @default.
- W2100031402 cites W1978160243 @default.
- W2100031402 cites W1981132305 @default.
- W2100031402 cites W1983673827 @default.
- W2100031402 cites W1984280207 @default.
- W2100031402 cites W1988587503 @default.
- W2100031402 cites W1991019568 @default.
- W2100031402 cites W1992044148 @default.
- W2100031402 cites W1992786956 @default.
- W2100031402 cites W1994932701 @default.
- W2100031402 cites W1996009087 @default.
- W2100031402 cites W1998663807 @default.
- W2100031402 cites W2003562932 @default.
- W2100031402 cites W2009357228 @default.
- W2100031402 cites W2011451600 @default.
- W2100031402 cites W2014013625 @default.
- W2100031402 cites W2014460292 @default.
- W2100031402 cites W2014666122 @default.
- W2100031402 cites W2015881261 @default.
- W2100031402 cites W2015889452 @default.
- W2100031402 cites W2018068324 @default.
- W2100031402 cites W2018882391 @default.
- W2100031402 cites W2021061167 @default.
- W2100031402 cites W2021391040 @default.
- W2100031402 cites W2022426305 @default.
- W2100031402 cites W2024768217 @default.
- W2100031402 cites W2025843494 @default.
- W2100031402 cites W2026180657 @default.
- W2100031402 cites W2028754058 @default.
- W2100031402 cites W2033942199 @default.
- W2100031402 cites W2034615025 @default.
- W2100031402 cites W2034972753 @default.
- W2100031402 cites W2035467544 @default.
- W2100031402 cites W2035720189 @default.
- W2100031402 cites W2035774221 @default.
- W2100031402 cites W2037236933 @default.
- W2100031402 cites W2037951294 @default.
- W2100031402 cites W2043204829 @default.
- W2100031402 cites W2044664714 @default.
- W2100031402 cites W2044758458 @default.
- W2100031402 cites W2047816315 @default.
- W2100031402 cites W2048182519 @default.
- W2100031402 cites W2053881743 @default.
- W2100031402 cites W2057984126 @default.
- W2100031402 cites W2058286861 @default.
- W2100031402 cites W2060955969 @default.
- W2100031402 cites W2062381026 @default.
- W2100031402 cites W2064535295 @default.
- W2100031402 cites W2070587656 @default.
- W2100031402 cites W2072559692 @default.
- W2100031402 cites W2080003994 @default.
- W2100031402 cites W2080459785 @default.
- W2100031402 cites W2080657387 @default.
- W2100031402 cites W2085418826 @default.
- W2100031402 cites W2088400967 @default.
- W2100031402 cites W2088672106 @default.
- W2100031402 cites W2090428934 @default.
- W2100031402 cites W2090664677 @default.
- W2100031402 cites W2095252752 @default.
- W2100031402 cites W2098085059 @default.
- W2100031402 cites W2103634044 @default.
- W2100031402 cites W2106036903 @default.
- W2100031402 cites W2107042037 @default.
- W2100031402 cites W2111724542 @default.
- W2100031402 cites W2113343307 @default.
- W2100031402 cites W2115076474 @default.
- W2100031402 cites W2118025592 @default.
- W2100031402 cites W2120502315 @default.
- W2100031402 cites W2122030982 @default.
- W2100031402 cites W2122740168 @default.
- W2100031402 cites W2133278278 @default.
- W2100031402 cites W2134379604 @default.
- W2100031402 cites W2136555885 @default.
- W2100031402 cites W2136996519 @default.
- W2100031402 cites W2138723417 @default.
- W2100031402 cites W2139055031 @default.
- W2100031402 cites W2143471290 @default.
- W2100031402 cites W2152202008 @default.