Matches in SemOpenAlex for { <https://semopenalex.org/work/W2892921818> ?p ?o ?g. }
- W2892921818 endingPage "152" @default.
- W2892921818 startingPage "137" @default.
- W2892921818 abstract "Diamond-Blackfan anemia (DBA) is a rare inherited bone marrow failure syndrome (IBMFS) that presents in early infancy and is characterized by severe anemia with mild macrocytosis, reticulocytopenia, and a normocellular bone marrow with a paucity of erythroid precursors. Clinically DBA is typified by failure of red cell terminal differentiation, an array of physical anomalies, and a predisposition to malignancy. Notably the study of DBA has defined a class of IBMFS referred to as “ribosomopathies” as the pathogenesis of DBA involves predominantly (in about 65–70% of patients) autosomal dominant mutations resulting in haploinsufficiency of ribosomal proteins (RP) encoded by 16 verified genes. X-linked mutations in two non-ribosomal genes, GATA1, encoding an erythroid transcription factor, and TSR2, encoding the putative RPS26 chaperone, are responsible for very rare instances of DBA. Tremendous progress using zebrafish and mouse models of DBA has advanced our understanding of the role of nucleolar stress (p53-dependent) and p53-independent mechanisms in the development of the DBA phenotype, providing strategies for therapeutic intervention. DBA is also confirmed to be a cancer predisposition syndrome. Our increasing understanding of the pathophysiology of DBA is leading to new therapeutic approaches such as ongoing open trials involving the modulation of mTOR and the TGFβ/activin pathways, with agents leucine and Sotatercept, respectively. In addition, trials with HDAC inhibitors, prolyl hydroxylase inhibitors, or PPAR-α agonists that are ongoing in other anemias may also provide useful insights for directing future therapies for patients with DBA." @default.
- W2892921818 created "2018-10-05" @default.
- W2892921818 creator A5039731963 @default.
- W2892921818 creator A5044759942 @default.
- W2892921818 date "2018-01-01" @default.
- W2892921818 modified "2023-09-23" @default.
- W2892921818 title "Diamond-Blackfan Anemia" @default.
- W2892921818 cites W1485459479 @default.
- W2892921818 cites W1497167438 @default.
- W2892921818 cites W1501957186 @default.
- W2892921818 cites W1521601785 @default.
- W2892921818 cites W1545825939 @default.
- W2892921818 cites W1557839603 @default.
- W2892921818 cites W1903563013 @default.
- W2892921818 cites W1924131945 @default.
- W2892921818 cites W1963501775 @default.
- W2892921818 cites W1963836315 @default.
- W2892921818 cites W1968165301 @default.
- W2892921818 cites W1969047175 @default.
- W2892921818 cites W1971062195 @default.
- W2892921818 cites W1971769123 @default.
- W2892921818 cites W1973122701 @default.
- W2892921818 cites W1973568206 @default.
- W2892921818 cites W1977605312 @default.
- W2892921818 cites W1977773162 @default.
- W2892921818 cites W1978181045 @default.
- W2892921818 cites W1986166444 @default.
- W2892921818 cites W1986890123 @default.
- W2892921818 cites W1987175415 @default.
- W2892921818 cites W1990455502 @default.
- W2892921818 cites W1993967595 @default.
- W2892921818 cites W1994455531 @default.
- W2892921818 cites W2003954839 @default.
- W2892921818 cites W2004230709 @default.
- W2892921818 cites W2008407032 @default.
- W2892921818 cites W2011423402 @default.
- W2892921818 cites W2019828567 @default.
- W2892921818 cites W2023386979 @default.
- W2892921818 cites W2024446761 @default.
- W2892921818 cites W2029042565 @default.
- W2892921818 cites W2029046705 @default.
- W2892921818 cites W2034674816 @default.
- W2892921818 cites W2034825504 @default.
- W2892921818 cites W2035003065 @default.
- W2892921818 cites W2035399864 @default.
- W2892921818 cites W2036415418 @default.
- W2892921818 cites W2039001775 @default.
- W2892921818 cites W2040283458 @default.
- W2892921818 cites W2040483206 @default.
- W2892921818 cites W2040524130 @default.
- W2892921818 cites W2043545270 @default.
- W2892921818 cites W2046450591 @default.
- W2892921818 cites W2053586237 @default.
- W2892921818 cites W2054217952 @default.
- W2892921818 cites W2055589228 @default.
- W2892921818 cites W2056032938 @default.
- W2892921818 cites W2058122189 @default.
- W2892921818 cites W2060618478 @default.
- W2892921818 cites W2063231360 @default.
- W2892921818 cites W2063254202 @default.
- W2892921818 cites W2064081765 @default.
- W2892921818 cites W2064758661 @default.
- W2892921818 cites W2066387962 @default.
- W2892921818 cites W2072823397 @default.
- W2892921818 cites W2073367697 @default.
- W2892921818 cites W2073724558 @default.
- W2892921818 cites W2074545297 @default.
- W2892921818 cites W2074928689 @default.
- W2892921818 cites W2075042835 @default.
- W2892921818 cites W2080460288 @default.
- W2892921818 cites W2082882184 @default.
- W2892921818 cites W2082921932 @default.
- W2892921818 cites W2083121277 @default.
- W2892921818 cites W2085280576 @default.
- W2892921818 cites W2087462521 @default.
- W2892921818 cites W2088811405 @default.
- W2892921818 cites W2089210036 @default.
- W2892921818 cites W2090841069 @default.
- W2892921818 cites W2105515478 @default.
- W2892921818 cites W2111181123 @default.
- W2892921818 cites W2114492363 @default.
- W2892921818 cites W2121401558 @default.
- W2892921818 cites W2121533623 @default.
- W2892921818 cites W2124008535 @default.
- W2892921818 cites W2124026134 @default.
- W2892921818 cites W2132492733 @default.
- W2892921818 cites W2134937174 @default.
- W2892921818 cites W2141455745 @default.
- W2892921818 cites W2142412083 @default.
- W2892921818 cites W2145762889 @default.
- W2892921818 cites W2149046852 @default.
- W2892921818 cites W2149986474 @default.
- W2892921818 cites W2150007817 @default.
- W2892921818 cites W2158450020 @default.
- W2892921818 cites W2163647264 @default.
- W2892921818 cites W2169057883 @default.
- W2892921818 cites W2169888227 @default.
- W2892921818 cites W2170318059 @default.