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Journal Article
Nature Genetics, ISSN 1061-4036, 04/2010, Volume 42, Issue 4, pp. 295 - U42
Journal Article
Journal of Hepatology, ISSN 0168-8278, 2009, Volume 52, Issue 2, pp. 258 - 271
Bile formation at the canalicular membrane is a delicate process. This is illustrated by inherited liver diseases due to mutations in ATP8B1 , ABCB11 , ABCB4 ,... 
Gastroenterology and Hepatology | Therapy | PFIC | Canalicular transport | Hereditary cholestasis | SALT EXPORT PUMP | EXTERNAL BILIARY DIVERSION | EXTRACORPOREAL ALBUMIN DIALYSIS | GAMMA-GLUTAMYL-TRANSPEPTIDASE | DUBIN-JOHNSON-SYNDROME | FARNESOID-X-RECEPTOR | RESISTANCE-ASSOCIATED PROTEIN-2 | MDR3 P-GLYCOPROTEIN | GASTROENTEROLOGY & HEPATOLOGY | ESTROGEN-INDUCED CHOLESTASIS | FAMILIAL INTRAHEPATIC CHOLESTASIS | Genetic Therapy | Lipoproteins - deficiency | Liver Transplantation | Lipoproteins - genetics | ATP Binding Cassette Transporter, Sub-Family B - deficiency | Humans | Biliary Tract Surgical Procedures | Ursodeoxycholic Acid - therapeutic use | Biological Transport, Active | ATP-Binding Cassette Transporters - genetics | Multidrug Resistance-Associated Proteins - genetics | Rifampin - therapeutic use | Adenosine Triphosphatases - deficiency | Liver Diseases - genetics | Cholestyramine Resin - therapeutic use | Bile - physiology | Liver Diseases - therapy | Multidrug Resistance-Associated Proteins - deficiency | ATP Binding Cassette Subfamily B Member 11 | Models, Biological | Bile Canaliculi - physiopathology | ATP Binding Cassette Transporter, Sub-Family G, Member 8 | Adenosine Triphosphatases - genetics | Liver Diseases - physiopathology | Mutation | ATP Binding Cassette Transporter, Sub-Family B - genetics | ATP Binding Cassette Transporter, Sub-Family G, Member 5 | Liver diseases | Molecular chaperones | Transplantation of organs, tissues, etc | Ursodiol | Cystic fibrosis | Phospholipids | Cholestyramine | Rifampin | Deoxycholic acid
Journal Article
Clinics and Research in Hepatology and Gastroenterology, ISSN 2210-7401, 02/2019, Volume 43, Issue 1, pp. 20 - 36
Progressive familial intrahepatic cholestasis (PFIC) is a heterogeneous group of rare genetic disorders associated with bile acid secretion or transport... 
Bile secretion | Pruritus | ABCB11 | Byler’s disease | ATP8B1 | ABCB4 | Byler's disease | LIVER-DISEASES | SPECTRUM | GASTROENTEROLOGY & HEPATOLOGY | EXTERNAL BILIARY DIVERSION | CHILDREN | BILE
Journal Article
Hepatology, ISSN 0270-9139, 04/2015, Volume 61, Issue 4, p. 1382
ATP8B1 deficiency is a severe autosomal recessive liver disease resulting from mutations in the ATP8B1 gene characterized by a continuous phenotypical spectrum... 
Journal Article
Clinical Gastroenterology and Hepatology, ISSN 1542-3565, 2013, Volume 11, Issue 8, pp. 1028 - 1035.e2
Journal Article
Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 07/2017, Volume 377, Issue 1, pp. 52 - 61
CD55 prevents convertase enzyme formation in the complement cascade, acting as a brake on complement activation. Inactivating mutations in CD55 result in... 
MEDICINE, GENERAL & INTERNAL | ACTIVATION | INFLAMMATORY-BOWEL-DISEASE | HEMOLYTIC-UREMIC SYNDROME | CELL RESPONSES | COMPLEMENT REGULATORY PROTEIN | INAB PHENOTYPE | DECAY-ACCELERATING FACTOR | PAROXYSMAL-NOCTURNAL HEMOGLOBINURIA | MEMBRANOPROLIFERATIVE GLOMERULONEPHRITIS | T-CELLS | Intestine, Small - pathology | Humans | CD55 Antigens - genetics | Child, Preschool | Infant | Male | Protein-Losing Enteropathies - genetics | Syndrome | Complement System Proteins - metabolism | CD55 Antigens - blood | Complement Activation - genetics | Homozygote | T-Lymphocytes - metabolism | Complement Inactivating Agents - pharmacology | Pedigree | Protein-Losing Enteropathies - complications | Statistics, Nonparametric | Immunoglobulin A - blood | Female | Thrombosis - genetics | Mutation | Child | Complement Activation - drug effects | Proteins | Molecular targeted therapy | Gene mutations | Gastrointestinal diseases | Analysis | Homeostasis | Research | Thrombosis | Blood clot | Gastrointestinal tract diseases | Complement component C5a | Lymphocytes T | Cell activation | Immunology | Pain | Intestine | Hepatology | Gastroenterology | Malabsorption | Thromboembolism | Digestive tract | Age | Edema | Medical research | Lymphatic system | Hypersensitivity | Diarrhea | Inflammation | Heredity | Protein deficiency | Patients | Hereditary diseases | Complement activation | Infectious diseases | Decay-accelerating factor
Journal Article