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Journal Article
Journal Article
Hepatology, ISSN 0270-9139, 01/2006, Volume 43, Issue 1, pp. 51 - 53
Benign recurrent intrahepatic cholestasis (BRIC) is characterized by episodic cholestasis and pruritus without anatomical obstruction. Effective medical... 
BILIARY DIVERSION | HEREDITARY CHOLESTASIS | MUTATIONS | GASTROENTEROLOGY & HEPATOLOGY | BILE | Recurrence | Bile - chemistry | Humans | Middle Aged | Phospholipids - analysis | Male | Nose | Drainage - methods | Adult | Female | Bile Acids and Salts - analysis | Endoscopy | Cholestasis, Intrahepatic - therapy | Index Medicus
Journal Article
PLoS ONE, ISSN 1932-6203, 12/2015, Volume 10, Issue 12, pp. e0145021 - e0145021
Familial intrahepatic cholestases (FICs) are a heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation and present with... 
SALT EXPORT PUMP | MULTIDISCIPLINARY SCIENCES | MDCK-II CELLS | PHENOTYPIC DIFFERENCES | PFIC2 | HEREDITARY CHOLESTASIS | SECRETION | EXPRESSION | DEFICIENCY | ABCB11 MUTATIONS | CHILDREN | Liver - pathology | Cholestasis, Intrahepatic - genetics | Cholestasis, Intrahepatic - pathology | Humans | Child, Preschool | Genotype | Infant | Mutation - genetics | Young Adult | Uniparental Disomy - genetics | ATP-Binding Cassette Transporters - genetics | ATP Binding Cassette Subfamily B Member 11 | Adolescent | Italy | Adenosine Triphosphatases - genetics | ATP Binding Cassette Transporter, Sub-Family B - genetics | Real-Time Polymerase Chain Reaction | Sequence Deletion - genetics | Care and treatment | Jaundice, Obstructive | Patient outcomes | Development and progression | Genetic aspects | Research | Cholestasis | Pediatrics | Salts | Genes | Gallbladder diseases | Families & family life | Phospholipids | Pruritus | Defects | Proteins | Histopathology | Clonal deletion | Rodents | Hepatology | Gastroenterology | Deletion | Genetics | Physiology | Children | Protein transport | Deoxyribonucleic acid--DNA | Liver diseases | Microsatellites | Secretion | Multidrug resistance | Histology | Metabolism | Patients | Chromosome 2 | Pathology | Uniparental disomy | Molecular modelling | Mutation | Bile | Index Medicus | Deoxyribonucleic acid | DNA
Journal Article
Journal of Hepatology, ISSN 0168-8278, 2010, Volume 53, Issue 1, pp. 170 - 178
Background & Aims Progressive familial intrahepatic cholestasis (PFIC) with normal serum levels of gamma-glutamyltranspeptidase can result from mutations in... 
Gastroenterology and Hepatology | Pediatrics | FIC1 | ATP binding cassette protein | BSEP | ATP8B1 | Genetics | Transport protein | ABCB11 | P-type ATPase | Cholestasis | LIVER-TRANSPLANTATION | SALT EXPORT PUMP | EXTERNAL BILIARY DIVERSION | CHILDREN | BYLER-DISEASE | HEREDITARY CHOLESTASIS | TYPE-1 | GASTROENTEROLOGY & HEPATOLOGY | FAMILIAL INTRAHEPATIC CHOLESTASIS | ABCB11 MUTATIONS | BILE | gamma-Glutamyltransferase - blood | Humans | Child, Preschool | Infant | Male | Young Adult | ATP-Binding Cassette Transporters - genetics | ATP-Binding Cassette Transporters - metabolism | Adult | Female | Retrospective Studies | Child | Infant, Newborn | Adenosine Triphosphatases - deficiency | Diagnosis, Differential | Cholestasis, Intrahepatic - genetics | Kaplan-Meier Estimate | Bile Acids and Salts - metabolism | Disease Progression | Pregnancy | Cholestasis, Intrahepatic - metabolism | Phenotype | Cholestasis, Intrahepatic - diagnosis | ATP Binding Cassette Subfamily B Member 11 | Adolescent | Age of Onset | Adenosine Triphosphatases - genetics | Mutation | Evaluation | Medical colleges | Bile acids | Phosphatases | Children's hospitals | Oncology, Experimental | Aspartate | Research | Food and nutrition | Armed Forces | Medical genetics | Transplantation of organs, tissues, etc | Anesthesia | Children | Arctic peoples | Health aspects | Adenosine triphosphatase | Cancer | Protein binding | Index Medicus | transport protein | genetics | cholestasis | pediatrics
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 5/2011, Volume 108, Issue 19, pp. 7890 - 7895
Transporters at the hepatic canalicular membrane are essential for the formation of bile and the prevention of cholestatic liver disease. One such example is... 
Cholic acids | Bile acids | Hyperbilirubinemia | Hepatocytes | B lymphocytes | Liver | Mice | Genetic mutation | Blood plasma | Bile | Jaundice | Gallbladder | Uterus | Enterohepatic circulation | Bile acid | HOMOZYGOUS DISRUPTION | HOMEOSTASIS | gallbladder | ACID | BILE-SALTS | bile acid | MULTIDISCIPLINARY SCIENCES | jaundice | IDENTIFICATION | DEFICIENCY | uterus | DISEASE | MICE | P-GLYCOPROTEIN GENE | enterohepatic circulation | FAMILIAL INTRAHEPATIC CHOLESTASIS | Genetic Diseases, X-Linked - enzymology | Male | DNA Primers - genetics | Lymphopenia - enzymology | Lymphopenia - pathology | Mitochondrial Proton-Translocating ATPases - genetics | Genes, X-Linked | Mice, Mutant Strains | Base Sequence | Female | Genetic Diseases, X-Linked - genetics | B-Lymphocytes - pathology | Cholic Acid - toxicity | Disease Models, Animal | Cholestasis, Intrahepatic - genetics | Dystocia - genetics | Hyperbilirubinemia, Hereditary - genetics | Cholestasis, Intrahepatic - pathology | Mice, Inbred C57BL | Molecular Chaperones - genetics | Molecular Chaperones - physiology | Cholestasis, Intrahepatic - enzymology | Dystocia - enzymology | Pregnancy | Homozygote | Hyperbilirubinemia, Hereditary - enzymology | Phenotype | Animals | Mitochondrial Proton-Translocating ATPases - physiology | Mutation | Lymphopenia - genetics | Cholic Acid - administration & dosage | Care and treatment | Jaundice, Obstructive | Genetic aspects | Gene mutations | Identification and classification | Cholestasis | Genotype & phenotype | Chromosomes | Rodents | Adenosine triphosphatase | Cells | Index Medicus | Parturition | cholic acid | Liver diseases | Adenosinetriphosphatase | Dietary supplements | X chromosome | Lymphocytes B | Bone marrow | Biological Sciences
Journal Article
Journal Article