2014
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Inherited Disorders of Bilirubin Transport and Conjugation: New Insights Into Molecular Mechanisms and Consequences
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Cited by 251 publications
(231 citation statements)
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Abstract
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“…Some molecular studies have suggested that a single normal UGT1A1 allele is sufficient to maintain a normal plasma bilirubin concentration, and that both GS and CNS are autosomal recessive disorders [ 3 ] ; however, in the present study, 31 patients carried only 1 mutation, 15 were heterozygotes, and the most common mutation was heterozygosity for p.G71R; therefore, we conclude that hereditary unconjugated hyperbilirubinemia is an autosomal dominant hereditary condition with incomplete penetrance.…”
Section: Discussion
contrasting
confidence: 84%
Abstract
Smart CitationsHow this paper cites the one you are viewing
“…Some molecular studies have suggested that a single normal UGT1A1 allele is sufficient to maintain a normal plasma bilirubin concentration, and that both GS and CNS are autosomal recessive disorders [ 3 ] ; however, in the present study, 31 patients carried only 1 mutation, 15 were heterozygotes, and the most common mutation was heterozygosity for p.G71R; therefore, we conclude that hereditary unconjugated hyperbilirubinemia is an autosomal dominant hereditary condition with incomplete penetrance.…”
Section: Discussion
contrasting
confidence: 84%
Abstract
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“…In our model, the mean V max of UGT1A1 for Crigler-Najjar syndrome was reduced to 0.55 μmol/L/min (0.09% of healthy-state value), which is consistent with literature [6]. In Dubin-Johnson syndrome, conjugated hyperbilirubinemia results from the absent or minimal MRP2 activity [5,6]. For the Dubin-Johnson syndrome, mean V max of MRP2 was decreased to 2.53 μmol/L/ min, representing 1.5% of the healthy-state value (Figure 4).…”
Section: Other Disorders Of Bilirubin Metabolism
supporting
confidence: 91%
“…Crigler-Najjar Type 1, a more severe disorder, results from complete or near absence of UGT1A1. In our model, the mean V max of UGT1A1 for Crigler-Najjar syndrome was reduced to 0.55 μmol/L/min (0.09% of healthy-state value), which is consistent with literature [6]. In Dubin-Johnson syndrome, conjugated hyperbilirubinemia results from the absent or minimal MRP2 activity [5,6].…”
Section: Other Disorders Of Bilirubin Metabolism
supporting
confidence: 88%
Abstract
Smart CitationsHow this paper cites the one you are viewing
“…There were no other features of hepatobiliary disorder. Patient 1’s jaundice increased during pregnancy and while taking oral contraceptives, which was in line with DJS ( Erlinger et al, 2014 ). In the liver biopsy, specimens of DJS had a grossly black appearance and coarse, deep-brown, pigmented granules ( Memon et al, 2016 ).…”
Section: Discussion
supporting
confidence: 67%
Abstract
Smart CitationsHow this paper cites the one you are viewing
“…Some molecular studies have suggested that a single normal UGT1A1 allele is sufficient to maintain a normal plasma bilirubin concentration, and that both GS and CNS are autosomal recessive disorders [ 3 ] ; however, in the present study, 31 patients carried only 1 mutation, 15 were heterozygotes, and the most common mutation was heterozygosity for p.G71R; therefore, we conclude that hereditary unconjugated hyperbilirubinemia is an autosomal dominant hereditary condition with incomplete penetrance.…”
Section: Discussion
contrasting
confidence: 84%
Abstract
Smart CitationsHow this paper cites the one you are viewing
“…In our model, the mean V max of UGT1A1 for Crigler-Najjar syndrome was reduced to 0.55 μmol/L/min (0.09% of healthy-state value), which is consistent with literature [6]. In Dubin-Johnson syndrome, conjugated hyperbilirubinemia results from the absent or minimal MRP2 activity [5,6]. For the Dubin-Johnson syndrome, mean V max of MRP2 was decreased to 2.53 μmol/L/ min, representing 1.5% of the healthy-state value (Figure 4).…”
Section: Other Disorders Of Bilirubin Metabolism
supporting
confidence: 91%
“…Crigler-Najjar Type 1, a more severe disorder, results from complete or near absence of UGT1A1. In our model, the mean V max of UGT1A1 for Crigler-Najjar syndrome was reduced to 0.55 μmol/L/min (0.09% of healthy-state value), which is consistent with literature [6]. In Dubin-Johnson syndrome, conjugated hyperbilirubinemia results from the absent or minimal MRP2 activity [5,6].…”
Section: Other Disorders Of Bilirubin Metabolism
supporting
confidence: 88%
Abstract
Smart CitationsHow this paper cites the one you are viewing
“…There were no other features of hepatobiliary disorder. Patient 1’s jaundice increased during pregnancy and while taking oral contraceptives, which was in line with DJS ( Erlinger et al, 2014 ). In the liver biopsy, specimens of DJS had a grossly black appearance and coarse, deep-brown, pigmented granules ( Memon et al, 2016 ).…”
Section: Discussion
supporting
confidence: 67%
Abstract
Smart CitationsHow this paper cites the one you are viewing
“…Some molecular studies have suggested that a single normal UGT1A1 allele is sufficient to maintain a normal plasma bilirubin concentration, and that both GS and CNS are autosomal recessive disorders [ 3 ] ; however, in the present study, 31 patients carried only 1 mutation, 15 were heterozygotes, and the most common mutation was heterozygosity for p.G71R; therefore, we conclude that hereditary unconjugated hyperbilirubinemia is an autosomal dominant hereditary condition with incomplete penetrance.…”
Section: Discussion
contrasting
confidence: 84%
Abstract
Smart CitationsHow this paper cites the one you are viewing
“…In our model, the mean V max of UGT1A1 for Crigler-Najjar syndrome was reduced to 0.55 μmol/L/min (0.09% of healthy-state value), which is consistent with literature [6]. In Dubin-Johnson syndrome, conjugated hyperbilirubinemia results from the absent or minimal MRP2 activity [5,6]. For the Dubin-Johnson syndrome, mean V max of MRP2 was decreased to 2.53 μmol/L/ min, representing 1.5% of the healthy-state value (Figure 4).…”
Section: Other Disorders Of Bilirubin Metabolism
supporting
confidence: 91%
“…Crigler-Najjar Type 1, a more severe disorder, results from complete or near absence of UGT1A1. In our model, the mean V max of UGT1A1 for Crigler-Najjar syndrome was reduced to 0.55 μmol/L/min (0.09% of healthy-state value), which is consistent with literature [6]. In Dubin-Johnson syndrome, conjugated hyperbilirubinemia results from the absent or minimal MRP2 activity [5,6].…”
Section: Other Disorders Of Bilirubin Metabolism
supporting
confidence: 88%
Abstract
Smart CitationsHow this paper cites the one you are viewing
“…There were no other features of hepatobiliary disorder. Patient 1’s jaundice increased during pregnancy and while taking oral contraceptives, which was in line with DJS ( Erlinger et al, 2014 ). In the liver biopsy, specimens of DJS had a grossly black appearance and coarse, deep-brown, pigmented granules ( Memon et al, 2016 ).…”
Section: Discussion
supporting
confidence: 67%
