FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2130658521> ?p ?o ?g. }

• W2130658521 endingPage "112" @default.
• W2130658521 startingPage "103" @default.
• W2130658521 abstract "Dyskeratosis congenita (DC) is an inherited syndrome exhibiting marked clinical and genetic heterogeneity. It is characterized by multiple features including mucocutaneous abnormalities, bone marrow failure and an increased predisposition to cancer. Three genetic subtypes are recognized: X-linked recessive DC bears mutations in DKC1, the gene encoding dyskerin, a component of H/ACA small nucleolar ribonucleoprotein particles; autosomal dominant (AD) DC has heterozygous mutations in either TERC or TERT, the RNA and enzymatic components of telomerase, respectively, and autosomal recessive DC in which the genes involved remain largely elusive. Disease pathology is believed to be a consequence of chromosome instability because of telomerase deficiency due to mutations in DKC1, TERC and TERT; in patients with DKC1 mutations, defects in ribosomal RNA modification, ribosome biogenesis, translation control or mRNA splicing may also contribute to disease pathogenesis. The involvement of telomerase complex components in X-linked and AD forms and the presence of short telomeres in DC patients suggest that DC is primarily a disease of defective telomere maintenance. Treatment is variable and complicated by the development of secondary cancers but, being a monogenic disorder, it could potentially be treated by gene therapy. DC overlaps both clinically and genetically with several other diseases including Hoyeraal–Hreidarsson syndrome, aplastic anaemia and myelodysplasia, among others and its underlying telomeric defect has implications for a broader range of biological processes including ageing and many forms of cancer." @default.
• W2130658521 created "2016-06-24" @default.
• W2130658521 creator A5030779563 @default.
• W2130658521 creator A5080271377 @default.
• W2130658521 date "2007-11-15" @default.
• W2130658521 modified "2023-10-09" @default.
• W2130658521 title "Dyskeratosis congenita: a genetic disorder of many faces" @default.
• W2130658521 cites W1496836853 @default.
• W2130658521 cites W1612842202 @default.
• W2130658521 cites W1693031468 @default.
• W2130658521 cites W1927581912 @default.
• W2130658521 cites W1942015863 @default.
• W2130658521 cites W1964235601 @default.
• W2130658521 cites W1964543951 @default.
• W2130658521 cites W1965401154 @default.
• W2130658521 cites W1973081247 @default.
• W2130658521 cites W1976273464 @default.
• W2130658521 cites W1977129262 @default.
• W2130658521 cites W1978070070 @default.
• W2130658521 cites W1981482042 @default.
• W2130658521 cites W1983673827 @default.
• W2130658521 cites W1984437428 @default.
• W2130658521 cites W1985641439 @default.
• W2130658521 cites W1988479344 @default.
• W2130658521 cites W2003709867 @default.
• W2130658521 cites W2008814693 @default.
• W2130658521 cites W2011059381 @default.
• W2130658521 cites W2016088168 @default.
• W2130658521 cites W2017451666 @default.
• W2130658521 cites W2021061167 @default.
• W2130658521 cites W2023645508 @default.
• W2130658521 cites W2025843494 @default.
• W2130658521 cites W2028274975 @default.
• W2130658521 cites W2032486291 @default.
• W2130658521 cites W2033535804 @default.
• W2130658521 cites W2033578773 @default.
• W2130658521 cites W2034887561 @default.
• W2130658521 cites W2037236933 @default.
• W2130658521 cites W2037703099 @default.
• W2130658521 cites W2039211648 @default.
• W2130658521 cites W2043204829 @default.
• W2130658521 cites W2044758458 @default.
• W2130658521 cites W2048799116 @default.
• W2130658521 cites W2053620236 @default.
• W2130658521 cites W2058290533 @default.
• W2130658521 cites W2058969871 @default.
• W2130658521 cites W2060678979 @default.
• W2130658521 cites W2063914679 @default.
• W2130658521 cites W2065506090 @default.
• W2130658521 cites W2072734582 @default.
• W2130658521 cites W2075714794 @default.
• W2130658521 cites W2076473351 @default.
• W2130658521 cites W2084017895 @default.
• W2130658521 cites W2085418826 @default.
• W2130658521 cites W2087249772 @default.
• W2130658521 cites W2088605578 @default.
• W2130658521 cites W2090854545 @default.
• W2130658521 cites W2091600059 @default.
• W2130658521 cites W2096313096 @default.
• W2130658521 cites W2102734197 @default.
• W2130658521 cites W2107042037 @default.
• W2130658521 cites W2107665433 @default.
• W2130658521 cites W2116490988 @default.
• W2130658521 cites W2118137773 @default.
• W2130658521 cites W2122740168 @default.
• W2130658521 cites W2126360553 @default.
• W2130658521 cites W2126756655 @default.
• W2130658521 cites W2130141211 @default.
• W2130658521 cites W2152202008 @default.
• W2130658521 cites W2160848134 @default.
• W2130658521 cites W2164682441 @default.
• W2130658521 cites W2164918125 @default.
• W2130658521 cites W83758500 @default.
• W2130658521 doi "https://doi.org/10.1111/j.1399-0004.2007.00923.x" @default.
• W2130658521 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/18005359" @default.
• W2130658521 hasPublicationYear "2007" @default.
• W2130658521 type Work @default.
• W2130658521 sameAs 2130658521 @default.
• W2130658521 citedByCount "207" @default.
• W2130658521 countsByYear W21306585212012 @default.
• W2130658521 countsByYear W21306585212013 @default.
• W2130658521 countsByYear W21306585212014 @default.
• W2130658521 countsByYear W21306585212015 @default.
• W2130658521 countsByYear W21306585212016 @default.
• W2130658521 countsByYear W21306585212017 @default.
• W2130658521 countsByYear W21306585212018 @default.
• W2130658521 countsByYear W21306585212019 @default.
• W2130658521 countsByYear W21306585212020 @default.
• W2130658521 countsByYear W21306585212021 @default.
• W2130658521 countsByYear W21306585212022 @default.
• W2130658521 countsByYear W21306585212023 @default.
• W2130658521 crossrefType "journal-article" @default.
• W2130658521 hasAuthorship W2130658521A5030779563 @default.
• W2130658521 hasAuthorship W2130658521A5080271377 @default.
• W2130658521 hasConcept C104317684 @default.
• W2130658521 hasConcept C109159458 @default.
• W2130658521 hasConcept C125593758 @default.
• W2130658521 hasConcept C177336024 @default.

• next