1976
DOI: 10.1016/0014-4827(76)90653-4
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Trisomie 21 et superoxyde dismutase-1 (IPO-A)

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1978
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Cited by 168 publications
(31 citation statements)
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“…Glutathione-in a readion system containing riboflavin and nitroblue tetrazo-S-transferase was also assayed, but the significant difference lium ( I l), with the following modification: before being eliminated found between CF chi1dren and normal contruIs is probably not by an ethanol-chloroform precipitation, hemoglobin is adjusted to specific of CF as it is found in other pathologic situations such as 8% in the hemolysate (16). In t h~s system, one unit corresponds to hyperhilirubinemia or renal insufficiency.…”
mentioning
confidence: 99%
“…Glutathione-in a readion system containing riboflavin and nitroblue tetrazo-S-transferase was also assayed, but the significant difference lium ( I l), with the following modification: before being eliminated found between CF chi1dren and normal contruIs is probably not by an ethanol-chloroform precipitation, hemoglobin is adjusted to specific of CF as it is found in other pathologic situations such as 8% in the hemolysate (16). In t h~s system, one unit corresponds to hyperhilirubinemia or renal insufficiency.…”
mentioning
confidence: 99%
“…Although there may be some relationship between partial monosomy 21, specifically for 21(pter-q 22), and CNS anomalies, further observations are undoubtedly necessary to clarify these relationships. The band q 22.1 of chromosome 21 is an important region as the loci of both phosphoribosylglycinamide synthetase and superoxide dismutase 1 (Sinet et al 1976;Chadefaux et al 1984). Holoprosencephaly is one of the failure of the primary cerebral vesicle (telencephalon) to cleave and expand bilaterally, and it usually associates with midline facial defects (Menkes et al 1990).…”
Section: Cytogenic Studiesmentioning
confidence: 99%
“…Studies of partial translocations involving chromosome 21 have shown that trisomy for only band 21q22, which is located on the distal portion of the long arm of chromosome 21, will result in DS (5). Two human genes, IfRec (formerly AVG or AVP) and SOD-1 are known to map to this region of the chromosome (6,7). The IfRec locus controls the ability of a cell to respond to exogenously administered human interferon and is believed to code for a species-specific interferon receptor (8).…”
mentioning
confidence: 99%