Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Dubin-Johnson-Syndrom

Das Dubin-Johnson-Syndrom ist eine autosomal rezessive Lebererkrankung die durch eine benigne Hyperbilirubinämie und eine Abbaustörung verschiedener Metabolite gekennzeichnet ist.

Gliederung

Genetisch bedingte Hyperbilirubinämie
Crigler-Najjar-Syndrom 1
Crigler-Najjar-Syndrom 2
Dubin-Johnson-Syndrom
ABCC2
Familiäre transiente neonatale Hyperbilirubinämie
Gilbert-Syndrom
Hyperbilirubinämie vom Rotor-Typ

Referenzen:

1.

Shani M et. al. (1970) Dubin-Johnson syndrome in Israel. I. Clinical, laboratory, and genetic aspects of 101 cases.

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2.

None (1993) Dubin-Johnson and Rotor syndromes: molecular basis and pathogenesis.

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3.

Paulusma CC et. al. (1996) Congenital jaundice in rats with a mutation in a multidrug resistance-associated protein gene.

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4.

Ito K et. al. (1997) Molecular cloning of canalicular multispecific organic anion transporter defective in EHBR.

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5.

van Kuijck MA et. al. (1997) Assignment of the canalicular multispecific organic anion transporter gene (CMOAT) to human chromosome 10q24 and mouse chromosome 19D2 by fluorescent in situ hybridization.

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6.

Wada M et. al. (1998) Mutations in the canilicular multispecific organic anion transporter (cMOAT) gene, a novel ABC transporter, in patients with hyperbilirubinemia II/Dubin-Johnson syndrome.

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7.

Kajihara S et. al. (1998) A splice mutation in the human canalicular multispecific organic anion transporter gene causes Dubin-Johnson syndrome.

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8.

Toh S et. al. (1999) Genomic structure of the canalicular multispecific organic anion-transporter gene (MRP2/cMOAT) and mutations in the ATP-binding-cassette region in Dubin-Johnson syndrome.

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9.

Mor-Cohen R et. al. (2001) Identification and functional analysis of two novel mutations in the multidrug resistance protein 2 gene in Israeli patients with Dubin-Johnson syndrome.

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10.

Pacifico L et. al. (2010) Mutational analysis of ABCC2 gene in two siblings with neonatal-onset Dubin Johnson syndrome.

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11.

Nakata F et. al. (1979) Dubin-Johnson syndrome in a neonate.

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12.

None (1975) Inheritance of the Dubin-Johnson-Sprinz syndrome.

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13.

Swartz HM et. al. (1987) Further evidence that the pigment in the Dubin-Johnson syndrome is not melanin.

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14.

Wolkoff AW et. al. (1973) Inheritance of the Dubin-Johnson syndrome.

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15.

None (1971) Inheritable and congenital hyperbilirubinemia. Models for the study of drug metabolism.

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16.

Seligsohn U et. al. (1970) Dubin-Johnson syndrome in Israel. II. Association with factor-VII deficiency.

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17.

Butt HR et. al. (1966) Studies of chronic idiopathic jaundice (Dubin-Johnson syndrome). II. Evaluation of a large family with the trait.

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18.

Du JN et. al. (1967) Dubin-Johnson syndrome: a family with three affected sisters.

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19.

Mayer R et. al. (1995) Expression of the MRP gene-encoded conjugate export pump in liver and its selective absence from the canalicular membrane in transport-deficient mutant hepatocytes.

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20.

Kartenbeck J et. al. (1996) Absence of the canalicular isoform of the MRP gene-encoded conjugate export pump from the hepatocytes in Dubin-Johnson syndrome.

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21.

DUBIN IN et. al. (1954) Chronic idiopathic jaundice with unidentified pigment in liver cells; a new clinicopathologic entity with a report of 12 cases.

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22.

BEKER S et. al. (1958) Familial DubinJohnson syndrome.

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23.

CALDERON A et. al. (1961) Chronic idiopathic jaundice. A case report.

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24.

WOLF RL et. al. (1960) Chronic idiopathic jaundice. A study of two afflicted families.

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