Mutations in DCDC2 (doublecortin domain containing protein 2) in neonatal sclerosing cholangitis

• Published in: Journal of hepatology Vol. 65; no. 6; pp. 1179 - 1187
• Main Authors: Grammatikopoulos, Tassos, Sambrotta, Melissa, Strautnieks, Sandra, Foskett, Pierre, Knisely, A.S, Wagner, Bart, Deheragoda, Maesha, Starling, Chris, Mieli-Vergani, Giorgina, Smith, Joshua, Bull, Laura, Thompson, Richard J
• Format: Journal Article
• Language: English
• Published: Netherlands Elsevier B.V 01.12.2016; Elsevier Science Ltd
• Subjects: Acetylated alpha-tubulin; Autosomal recessive inheritance; Bile ducts; Biliary atresia; Biopsy; Children; Cholangiopathy; Cholangitis; Cholangitis, Sclerosing - genetics; Cilia; Ciliopathy; Deoxyribonucleic acid; DNA; Doublecortin domain containing protein 2; Doublecortin protein; Female; Gastroenterology and Hepatology; Gene frequency; Heredity; High-Throughput Nucleotide Sequencing; Humans; Infant, Newborn; Liver diseases; Liver transplantation; Male; Microtubule-Associated Proteins - genetics; Mutation; Neonate; Neonates; Pathogenicity; Protein expression; Proteins; Transmission electron microscopy; Tubulin; CHF; extracellular signal-regulated kinase; doublecortin gene family; neonatal sclerosing cholangitis; WES; LT; multidrug resistance protein 3; autosomal dominant polycystic kidney disease; Ca 2; endoscopic retrograde cholangiopancreatography; King’s College Hospital; NPHP-RC; Ciliopathy; ADPKD; Neonate; ACALT; IFT; nephronophthisis-related ciliopathies; autosomal recessive polycystic kidney disease; transmission electron microscopy; Cholangiopathy; MDR3; congenital hepatic fibrosis; NSC; acetylated alpha-tubulin; PSC; ARPKD; calcium; DCDC2; doublecortin domain containing protein 2; whole exome sequencing; biliary atresia; KCH; GGT; MRCP; DCX; intraflagellary transport system; ERCP; γ-glutamyltransferase; microtubule-associated protein; MAP; TEM; liver transplantation; magnetic resonance cholangiopancreatography; primary sclerosing cholangitis; BA; ERK; Doublecortin domain containing protein 2; Acetylated alpha-tubulin; Ca2
• ISSN: 0168-8278; 1600-0641
• DOI: 10.1016/j.jhep.2016.07.017

Graphical abstract