FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W1978304554> ?p ?o ?g. }

• W1978304554 endingPage "895" @default.
• W1978304554 startingPage "887" @default.
• W1978304554 abstract "NADPH oxidase, a multi-subunit protein consisting of cytosolic components and the membrane-bound heterodimer, plays an instrumental role in host defence mechanisms of phagocytes. Genetic deficiency of the enzymatic complex results in an inherited disorder, chronic granulomatous disease (CGD), which is characterized by an impaired phagocyte microbicidal activity. X-Linked (XL) CGD results from a mutation in the CYBB gene encoding the gp91phox subunit, while autosomal recessive (AR) CGD is associated with mutations in one of the NCF1, NCF2 and CYBA genes that encode the p47phox, p67phox and p22phox subunits, respectively. In the study reported here, we investigated genetic defects underlying CGD in 15 Tunisian patients from 14 unrelated families. Haplotype analyses and homozygosity mapping with microsatellite markers around known CGD genes assigned the genetic defect to NCF1 in four patients, to NCF2 in four patients and to CYBA in two patients. However, one family with two CGD patients seemed not to link the genetic defect to any known AR-CGD genes. Mutation screening identified two novel mutations in NCF2 and CYBA in addition to the recurrent mutation, ΔGT, in NCF1 and a splice site mutation previously reported in a North African patient. Our results revealed the genetic and mutational heterogeneity of the AR recessive form of CGD in Tunisia." @default.
• W1978304554 created "2016-06-24" @default.
• W1978304554 creator A5001656866 @default.
• W1978304554 creator A5001911137 @default.
• W1978304554 creator A5012403076 @default.
• W1978304554 creator A5015685493 @default.
• W1978304554 creator A5030593698 @default.
• W1978304554 creator A5034755001 @default.
• W1978304554 creator A5037017657 @default.
• W1978304554 creator A5037242087 @default.
• W1978304554 creator A5052338940 @default.
• W1978304554 creator A5059548456 @default.
• W1978304554 creator A5066928648 @default.
• W1978304554 creator A5067756693 @default.
• W1978304554 creator A5073224818 @default.
• W1978304554 creator A5088353722 @default.
• W1978304554 creator A5090793548 @default.
• W1978304554 date "2006-08-26" @default.
• W1978304554 modified "2023-10-15" @default.
• W1978304554 title "Genetic and mutational heterogeneity of autosomal recessive chronic granulomatous disease in Tunisia" @default.
• W1978304554 cites W1534058357 @default.
• W1978304554 cites W1579721654 @default.
• W1978304554 cites W1583760582 @default.
• W1978304554 cites W1586099293 @default.
• W1978304554 cites W1727958888 @default.
• W1978304554 cites W1965265115 @default.
• W1978304554 cites W1965669621 @default.
• W1978304554 cites W1981284599 @default.
• W1978304554 cites W1988276998 @default.
• W1978304554 cites W1988651381 @default.
• W1978304554 cites W1989069895 @default.
• W1978304554 cites W1997409930 @default.
• W1978304554 cites W2003696506 @default.
• W1978304554 cites W2007349098 @default.
• W1978304554 cites W2031328533 @default.
• W1978304554 cites W2034290678 @default.
• W1978304554 cites W2040096357 @default.
• W1978304554 cites W2041642237 @default.
• W1978304554 cites W2042535720 @default.
• W1978304554 cites W2045718795 @default.
• W1978304554 cites W2063970228 @default.
• W1978304554 cites W2072467820 @default.
• W1978304554 cites W2075186587 @default.
• W1978304554 cites W2078080804 @default.
• W1978304554 cites W2084756528 @default.
• W1978304554 cites W2085412212 @default.
• W1978304554 cites W2089887078 @default.
• W1978304554 cites W2090653160 @default.
• W1978304554 cites W2092766784 @default.
• W1978304554 cites W2140897891 @default.
• W1978304554 cites W2252401265 @default.
• W1978304554 cites W2336648578 @default.
• W1978304554 cites W2396255876 @default.
• W1978304554 cites W2411494675 @default.
• W1978304554 cites W2418288689 @default.
• W1978304554 cites W2439570905 @default.
• W1978304554 cites W2761397801 @default.
• W1978304554 cites W3151244099 @default.
• W1978304554 cites W4246605084 @default.
• W1978304554 doi "https://doi.org/10.1007/s10038-006-0039-8" @default.
• W1978304554 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/16937026" @default.
• W1978304554 hasPublicationYear "2006" @default.
• W1978304554 type Work @default.
• W1978304554 sameAs 1978304554 @default.
• W1978304554 citedByCount "48" @default.
• W1978304554 countsByYear W19783045542012 @default.
• W1978304554 countsByYear W19783045542013 @default.
• W1978304554 countsByYear W19783045542014 @default.
• W1978304554 countsByYear W19783045542015 @default.
• W1978304554 countsByYear W19783045542016 @default.
• W1978304554 countsByYear W19783045542017 @default.
• W1978304554 countsByYear W19783045542018 @default.
• W1978304554 countsByYear W19783045542019 @default.
• W1978304554 countsByYear W19783045542020 @default.
• W1978304554 countsByYear W19783045542021 @default.
• W1978304554 countsByYear W19783045542022 @default.
• W1978304554 countsByYear W19783045542023 @default.
• W1978304554 crossrefType "journal-article" @default.
• W1978304554 hasAuthorship W1978304554A5001656866 @default.
• W1978304554 hasAuthorship W1978304554A5001911137 @default.
• W1978304554 hasAuthorship W1978304554A5012403076 @default.
• W1978304554 hasAuthorship W1978304554A5015685493 @default.
• W1978304554 hasAuthorship W1978304554A5030593698 @default.
• W1978304554 hasAuthorship W1978304554A5034755001 @default.
• W1978304554 hasAuthorship W1978304554A5037017657 @default.
• W1978304554 hasAuthorship W1978304554A5037242087 @default.
• W1978304554 hasAuthorship W1978304554A5052338940 @default.
• W1978304554 hasAuthorship W1978304554A5059548456 @default.
• W1978304554 hasAuthorship W1978304554A5066928648 @default.
• W1978304554 hasAuthorship W1978304554A5067756693 @default.
• W1978304554 hasAuthorship W1978304554A5073224818 @default.
• W1978304554 hasAuthorship W1978304554A5088353722 @default.
• W1978304554 hasAuthorship W1978304554A5090793548 @default.
• W1978304554 hasBestOaLocation W19783045541 @default.
• W1978304554 hasConcept C104292427 @default.
• W1978304554 hasConcept C104317684 @default.
• W1978304554 hasConcept C127716648 @default.
• W1978304554 hasConcept C135763542 @default.

• next