FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2155374906> ?p ?o ?g. }

• W2155374906 endingPage "1834" @default.
• W2155374906 startingPage "1827" @default.
• W2155374906 abstract "Ataxia-telangiectasia (A-T) is an autosomal recessive disorder characterized by progressive neurodegeneration, immunodeficiency, susceptibility to cancer, genomic instability, and sensitivity to ionizing radiation. A-T is caused by mutations that eliminate or inactivate the nuclear protein kinase ATM, the chief activator of the cellular response to double strand breaks (DSBs) in the DNA. Mild A-T is usually caused by ATM mutations that leave residual amounts of active ATM. We studied two siblings with mild A-T, as defined by clinical examination and a quantitative A-T neurological index. Surprisingly, no ATM was detected in the patients' cells, and sequence analysis revealed that they were homozygous for a truncating ATM mutation (5653delA) that is expected to lead to the classical, severe neurological presentation. Moreover, the cellular phenotype of these patients was indistinguishable from that of classical A-T: all the tested parameters of the DSB response were severely defective as in typical A-T. This analysis shows that the severity of the neurological component of A-T is determined not only by ATM mutations but also by other influences yet to be found." @default.
• W2155374906 created "2016-06-24" @default.
• W2155374906 creator A5013626134 @default.
• W2155374906 creator A5023561602 @default.
• W2155374906 creator A5027607427 @default.
• W2155374906 creator A5049995244 @default.
• W2155374906 creator A5069098638 @default.
• W2155374906 creator A5083846910 @default.
• W2155374906 creator A5086398854 @default.
• W2155374906 date "2007-08-15" @default.
• W2155374906 modified "2023-09-30" @default.
• W2155374906 title "Ataxia-telangiectasia: Mild neurological presentation despite null<i>ATM</i>mutation and severe cellular phenotype" @default.
• W2155374906 cites W1965161960 @default.
• W2155374906 cites W1965667305 @default.
• W2155374906 cites W1988524165 @default.
• W2155374906 cites W1998603809 @default.
• W2155374906 cites W2010046253 @default.
• W2155374906 cites W2010895845 @default.
• W2155374906 cites W2013473088 @default.
• W2155374906 cites W2020151423 @default.
• W2155374906 cites W2028749179 @default.
• W2155374906 cites W2031414445 @default.
• W2155374906 cites W2031591953 @default.
• W2155374906 cites W2033200608 @default.
• W2155374906 cites W2033674626 @default.
• W2155374906 cites W2042524696 @default.
• W2155374906 cites W2045526190 @default.
• W2155374906 cites W2046556531 @default.
• W2155374906 cites W2046589688 @default.
• W2155374906 cites W2046723353 @default.
• W2155374906 cites W2052898620 @default.
• W2155374906 cites W2054296295 @default.
• W2155374906 cites W2062673924 @default.
• W2155374906 cites W2064923608 @default.
• W2155374906 cites W2071674290 @default.
• W2155374906 cites W2082234447 @default.
• W2155374906 cites W2084089807 @default.
• W2155374906 cites W2088058353 @default.
• W2155374906 cites W2091413140 @default.
• W2155374906 cites W2097316296 @default.
• W2155374906 cites W2098951389 @default.
• W2155374906 cites W2103257915 @default.
• W2155374906 cites W2106087857 @default.
• W2155374906 cites W2111772438 @default.
• W2155374906 cites W2115322319 @default.
• W2155374906 cites W2120075650 @default.
• W2155374906 cites W2123395657 @default.
• W2155374906 cites W2128849253 @default.
• W2155374906 cites W2137091485 @default.
• W2155374906 cites W2142495502 @default.
• W2155374906 cites W2145880683 @default.
• W2155374906 cites W2150095413 @default.
• W2155374906 cites W2151968619 @default.
• W2155374906 cites W2152154355 @default.
• W2155374906 cites W2153923420 @default.
• W2155374906 cites W2159168998 @default.
• W2155374906 cites W2160480808 @default.
• W2155374906 cites W2164518522 @default.
• W2155374906 cites W2170052969 @default.
• W2155374906 cites W2171446708 @default.
• W2155374906 cites W2315612846 @default.
• W2155374906 cites W3155103815 @default.
• W2155374906 cites W4235424059 @default.
• W2155374906 cites W4237840816 @default.
• W2155374906 doi "https://doi.org/10.1002/ajmg.a.31853" @default.
• W2155374906 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/17632790" @default.
• W2155374906 hasPublicationYear "2007" @default.
• W2155374906 type Work @default.
• W2155374906 sameAs 2155374906 @default.
• W2155374906 citedByCount "46" @default.
• W2155374906 countsByYear W21553749062012 @default.
• W2155374906 countsByYear W21553749062013 @default.
• W2155374906 countsByYear W21553749062014 @default.
• W2155374906 countsByYear W21553749062015 @default.
• W2155374906 countsByYear W21553749062016 @default.
• W2155374906 countsByYear W21553749062017 @default.
• W2155374906 countsByYear W21553749062018 @default.
• W2155374906 countsByYear W21553749062019 @default.
• W2155374906 countsByYear W21553749062020 @default.
• W2155374906 countsByYear W21553749062021 @default.
• W2155374906 countsByYear W21553749062022 @default.
• W2155374906 crossrefType "journal-article" @default.
• W2155374906 hasAuthorship W2155374906A5013626134 @default.
• W2155374906 hasAuthorship W2155374906A5023561602 @default.
• W2155374906 hasAuthorship W2155374906A5027607427 @default.
• W2155374906 hasAuthorship W2155374906A5049995244 @default.
• W2155374906 hasAuthorship W2155374906A5069098638 @default.
• W2155374906 hasAuthorship W2155374906A5083846910 @default.
• W2155374906 hasAuthorship W2155374906A5086398854 @default.
• W2155374906 hasBestOaLocation W21553749061 @default.
• W2155374906 hasConcept C104317684 @default.
• W2155374906 hasConcept C127716648 @default.
• W2155374906 hasConcept C143425029 @default.
• W2155374906 hasConcept C153911025 @default.
• W2155374906 hasConcept C169760540 @default.
• W2155374906 hasConcept C178169997 @default.
• W2155374906 hasConcept C203014093 @default.
• W2155374906 hasConcept C2777136964 @default.

• next