Matches in SemOpenAlex for { <https://semopenalex.org/work/W2091077105> ?p ?o ?g. }
- W2091077105 endingPage "978" @default.
- W2091077105 startingPage "976" @default.
- W2091077105 abstract "Isolated congenital asplenia (ICA) is characterized by the absence of a spleen at birth in individuals with no other developmental defects. The patients are prone to life-threatening bacterial infections. The unbiased analysis of exomes revealed heterozygous mutations in RPSA in 18 patients from eight kindreds, corresponding to more than half the patients and over one-third of the kindreds studied. The clinical penetrance in these kindreds is complete. Expression studies indicated that the mutations carried by the patients-a nonsense mutation, a frameshift duplication, and five different missense mutations-cause autosomal dominant ICA by haploinsufficiency. RPSA encodes ribosomal protein SA, a component of the small subunit of the ribosome. This discovery establishes an essential role for RPSA in human spleen development." @default.
- W2091077105 created "2016-06-24" @default.
- W2091077105 creator A5002433347 @default.
- W2091077105 creator A5004705106 @default.
- W2091077105 creator A5008915149 @default.
- W2091077105 creator A5012236358 @default.
- W2091077105 creator A5012615456 @default.
- W2091077105 creator A5018481010 @default.
- W2091077105 creator A5021904235 @default.
- W2091077105 creator A5025797842 @default.
- W2091077105 creator A5026282767 @default.
- W2091077105 creator A5027276189 @default.
- W2091077105 creator A5029500933 @default.
- W2091077105 creator A5040399808 @default.
- W2091077105 creator A5045307345 @default.
- W2091077105 creator A5047928635 @default.
- W2091077105 creator A5050030530 @default.
- W2091077105 creator A5051022200 @default.
- W2091077105 creator A5053339332 @default.
- W2091077105 creator A5055799358 @default.
- W2091077105 creator A5056522286 @default.
- W2091077105 creator A5058861543 @default.
- W2091077105 creator A5062601012 @default.
- W2091077105 creator A5063790935 @default.
- W2091077105 creator A5065914659 @default.
- W2091077105 creator A5068462308 @default.
- W2091077105 creator A5068761013 @default.
- W2091077105 creator A5070179654 @default.
- W2091077105 creator A5073745658 @default.
- W2091077105 creator A5077369264 @default.
- W2091077105 creator A5078029042 @default.
- W2091077105 creator A5081615407 @default.
- W2091077105 creator A5084722592 @default.
- W2091077105 creator A5090497008 @default.
- W2091077105 date "2013-05-24" @default.
- W2091077105 modified "2023-10-18" @default.
- W2091077105 title "Ribosomal Protein SA Haploinsufficiency in Humans with Isolated Congenital Asplenia" @default.
- W2091077105 cites W1521601785 @default.
- W2091077105 cites W1972517114 @default.
- W2091077105 cites W1976525596 @default.
- W2091077105 cites W1984022579 @default.
- W2091077105 cites W1993323315 @default.
- W2091077105 cites W2021193122 @default.
- W2091077105 cites W2024039709 @default.
- W2091077105 cites W2033732585 @default.
- W2091077105 cites W2035261593 @default.
- W2091077105 cites W2036210716 @default.
- W2091077105 cites W2040283458 @default.
- W2091077105 cites W2041729196 @default.
- W2091077105 cites W2042409680 @default.
- W2091077105 cites W2045742821 @default.
- W2091077105 cites W2056032938 @default.
- W2091077105 cites W2060167034 @default.
- W2091077105 cites W2060544589 @default.
- W2091077105 cites W2061596350 @default.
- W2091077105 cites W2070923918 @default.
- W2091077105 cites W2090459727 @default.
- W2091077105 cites W2096791516 @default.
- W2091077105 cites W2096924683 @default.
- W2091077105 cites W2103329176 @default.
- W2091077105 cites W2103433909 @default.
- W2091077105 cites W2103441770 @default.
- W2091077105 cites W2106578986 @default.
- W2091077105 cites W2108234281 @default.
- W2091077105 cites W2111937814 @default.
- W2091077105 cites W2116844389 @default.
- W2091077105 cites W2119180969 @default.
- W2091077105 cites W2129201414 @default.
- W2091077105 cites W2132681927 @default.
- W2091077105 cites W2132943662 @default.
- W2091077105 cites W2142386149 @default.
- W2091077105 cites W2142412083 @default.
- W2091077105 cites W2144280353 @default.
- W2091077105 cites W2158450020 @default.
- W2091077105 doi "https://doi.org/10.1126/science.1234864" @default.
- W2091077105 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/3677541" @default.
- W2091077105 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/23579497" @default.
- W2091077105 hasPublicationYear "2013" @default.
- W2091077105 type Work @default.
- W2091077105 sameAs 2091077105 @default.
- W2091077105 citedByCount "166" @default.
- W2091077105 countsByYear W20910771052013 @default.
- W2091077105 countsByYear W20910771052014 @default.
- W2091077105 countsByYear W20910771052015 @default.
- W2091077105 countsByYear W20910771052016 @default.
- W2091077105 countsByYear W20910771052017 @default.
- W2091077105 countsByYear W20910771052018 @default.
- W2091077105 countsByYear W20910771052019 @default.
- W2091077105 countsByYear W20910771052020 @default.
- W2091077105 countsByYear W20910771052021 @default.
- W2091077105 countsByYear W20910771052022 @default.
- W2091077105 countsByYear W20910771052023 @default.
- W2091077105 crossrefType "journal-article" @default.
- W2091077105 hasAuthorship W2091077105A5002433347 @default.
- W2091077105 hasAuthorship W2091077105A5004705106 @default.
- W2091077105 hasAuthorship W2091077105A5008915149 @default.
- W2091077105 hasAuthorship W2091077105A5012236358 @default.
- W2091077105 hasAuthorship W2091077105A5012615456 @default.