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- W2912183228 abstract "Abstract Ataxia‐telangiectasia (A‐T) is an autosomal recessive primary immunodeficiency (PID) disease that is caused by mutations in ataxia‐telangiectasia mutated ( ATM ) gene encoding a serine/threonine protein kinase. A‐T patients represent a broad range of clinical manifestations including progressive cerebellar ataxia, oculocutaneous telangiectasia, variable immunodeficiency, radiosensitivity, susceptibility to malignancies, and increased metabolic diseases. This congenital disorder has phenotypic heterogeneity, and the severity of symptoms varies in different patients based on severity of mutations and disease progression. The principal role of nuclear ATM is the coordination of cellular signaling pathways in response to DNA double‐strand breaks, oxidative stress, and cell cycle checkpoint. The pathogenesis of A‐T is not limited to the role of ATM in the DNA damage response (DDR) pathway, and it has other functions mainly in the hematopoietic cells and neurons. ATM adjusts the functions of organelles such as mitochondria and peroxisomes and also regulates angiogenesis and glucose metabolisms. However, ATM has other functions in the cells (especially cell viability) that need further investigations. In this review, we described functions of ATM in the nucleus and cytoplasm, and also its association with some disorder formation such as neurologic, immunologic, vascular, pulmonary, metabolic, and dermatologic complications." @default.
- W2912183228 created "2019-02-21" @default.
- W2912183228 creator A5000489776 @default.
- W2912183228 creator A5025067610 @default.
- W2912183228 creator A5030897916 @default.
- W2912183228 creator A5040499257 @default.
- W2912183228 creator A5051258190 @default.
- W2912183228 date "2019-03-20" @default.
- W2912183228 modified "2023-10-12" @default.
- W2912183228 title "Ataxia‐telangiectasia: A review of clinical features and molecular pathology" @default.
- W2912183228 cites W1479769602 @default.
- W2912183228 cites W1542005181 @default.
- W2912183228 cites W1555218304 @default.
- W2912183228 cites W1564315948 @default.
- W2912183228 cites W164752722 @default.
- W2912183228 cites W1865268615 @default.
- W2912183228 cites W1875936957 @default.
- W2912183228 cites W1942693812 @default.
- W2912183228 cites W1954107135 @default.
- W2912183228 cites W1954244286 @default.
- W2912183228 cites W1958582880 @default.
- W2912183228 cites W1967958218 @default.
- W2912183228 cites W1970965314 @default.
- W2912183228 cites W1977145510 @default.
- W2912183228 cites W1977289939 @default.
- W2912183228 cites W1977923363 @default.
- W2912183228 cites W1978177909 @default.
- W2912183228 cites W1979822900 @default.
- W2912183228 cites W1985039849 @default.
- W2912183228 cites W1987611399 @default.
- W2912183228 cites W1988524165 @default.
- W2912183228 cites W1989973318 @default.
- W2912183228 cites W1990197342 @default.
- W2912183228 cites W1990666758 @default.
- W2912183228 cites W1991346678 @default.
- W2912183228 cites W1992062875 @default.
- W2912183228 cites W1994889545 @default.
- W2912183228 cites W1998588497 @default.
- W2912183228 cites W2004247546 @default.
- W2912183228 cites W2004486431 @default.
- W2912183228 cites W2007815419 @default.
- W2912183228 cites W2012034410 @default.
- W2912183228 cites W2012506200 @default.
- W2912183228 cites W2013473088 @default.
- W2912183228 cites W2017908487 @default.
- W2912183228 cites W2018918955 @default.
- W2912183228 cites W2019821876 @default.
- W2912183228 cites W2020058074 @default.
- W2912183228 cites W2022811243 @default.
- W2912183228 cites W2023742293 @default.
- W2912183228 cites W2027655954 @default.
- W2912183228 cites W2028307977 @default.
- W2912183228 cites W2028768933 @default.
- W2912183228 cites W2029065442 @default.
- W2912183228 cites W2029807929 @default.
- W2912183228 cites W2031365072 @default.
- W2912183228 cites W2033200608 @default.
- W2912183228 cites W2036931739 @default.
- W2912183228 cites W2044994347 @default.
- W2912183228 cites W2049118227 @default.
- W2912183228 cites W2054571064 @default.
- W2912183228 cites W2058792468 @default.
- W2912183228 cites W2059318379 @default.
- W2912183228 cites W2060917950 @default.
- W2912183228 cites W2060983457 @default.
- W2912183228 cites W2064727462 @default.
- W2912183228 cites W2066062775 @default.
- W2912183228 cites W2067566436 @default.
- W2912183228 cites W2069611885 @default.
- W2912183228 cites W2074615071 @default.
- W2912183228 cites W2078465024 @default.
- W2912183228 cites W2078630564 @default.
- W2912183228 cites W2079052854 @default.
- W2912183228 cites W2079540383 @default.
- W2912183228 cites W2081287867 @default.
- W2912183228 cites W2082444880 @default.
- W2912183228 cites W2082746284 @default.
- W2912183228 cites W2082786289 @default.
- W2912183228 cites W2084666187 @default.
- W2912183228 cites W2091104337 @default.
- W2912183228 cites W2092079611 @default.
- W2912183228 cites W2095202234 @default.
- W2912183228 cites W2097526253 @default.
- W2912183228 cites W2098741188 @default.
- W2912183228 cites W2104492370 @default.
- W2912183228 cites W2106087857 @default.
- W2912183228 cites W2106925712 @default.
- W2912183228 cites W2108631046 @default.
- W2912183228 cites W2111245253 @default.
- W2912183228 cites W2111772438 @default.
- W2912183228 cites W2112808167 @default.
- W2912183228 cites W2114993860 @default.
- W2912183228 cites W2115520857 @default.
- W2912183228 cites W2119628969 @default.
- W2912183228 cites W2120134270 @default.
- W2912183228 cites W2120886826 @default.
- W2912183228 cites W2122912494 @default.
- W2912183228 cites W2127960209 @default.