https://transhumanist.ru/index.php?action=history&feed=atom&title=ABCB4ABCB4 - История изменений2026-06-14T02:23:50ZИстория изменений этой страницы в викиMediaWiki 1.43.6https://transhumanist.ru/index.php?title=ABCB4&diff=5369&oldid=prevOdysseusBot: Новая страница: «Phosphatidylcholine translocator ABCB4 (EC 7.6.2.1) (ATP-binding cassette sub-family B member 4) (Multidrug resistance protein 3) (P-glycoprotein 3) [MDR3] [PGY3]...»2021-05-12T13:41:01Z<p>Новая страница: «Phosphatidylcholine translocator ABCB4 (EC 7.6.2.1) (ATP-binding cassette sub-family B member 4) (Multidrug resistance protein 3) (P-glycoprotein 3) [MDR3] [PGY3]...»</p>
<p><b>Новая страница</b></p><div>Phosphatidylcholine translocator ABCB4 (EC 7.6.2.1) (ATP-binding cassette sub-family B member 4) (Multidrug resistance protein 3) (P-glycoprotein 3) [MDR3] [PGY3]<br />
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==Publications==<br />
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{{medline-entry<br />
|title=Cholestatic liver diseases from child to adult: the diversity of MDR3 disease.<br />
|pubmed-url=https://pubmed.ncbi.nlm.nih.gov/21638239<br />
|abstract=The phospholipidfloppase MDR3 (gene symbol: [[ABCB4]]) is expressed in the canalicular membrane of hepatocytes and mediates the biliary excretion of phosphatidylcholine, which is required for the formation of mixed micelles in bile. Several mutations of [[ABCB4]] have been identified, which cause cholestatic liver diseases of varying severity including progressive familial intrahepatic cholestasis type 3 (PFIC-3), intrahepatic cholestasis of pregnancy (ICP) and the low phospholipid associated cholelithiasis syndrome (LPAC). Here, we report on four new (S1076N; L 23Hfs16X; c.286 1G > A; Q 1181E) and one known (S27G) MDR3 mutations in eight patients of three families. The patients presented with a wide spectrum of liver diseases. The clinical presentation and decisive laboratory findings or the association to a trend-setting family history led to the identification of the genetic background in these patients. Even the same mutation may be associated with varying disease progression.<br />
|mesh-terms=* ATP Binding Cassette Transporter, Subfamily B<br />
* Adult<br />
* Aging<br />
* Child, Preschool<br />
* Cholestasis, Intrahepatic<br />
* Genetic Predisposition to Disease<br />
* Genetic Variation<br />
* Heterozygote<br />
* Humans<br />
* Infant<br />
* Male<br />
* Mutation<br />
* Pedigree<br />
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|full-text-url=https://sci-hub.do/10.1055/s-0031-1273427<br />
}}</div>OdysseusBot