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HNF1B deficiency causes ciliary defects in human cholangiocytes

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Roelandt, Philip Antoniou, Aline [UCL] Libbrecht, Louis [UCL] Van Steenbergen, Werner Laleman, Wim Lemaigre, Frédéric [UCL] Cassiman, David

Heterozygous deletion or mutation in hepatocyte nuclear factor 1 homeobox B/transcription factor 2 (HNF1B/TCF2) causes renal cyst and diabetes syndrome (OMIM #137920). Mice with homozygous liver-specific deletion of Hnf1β revealed that a complete lack of this factor leads to ductopenia and bile duct dysplasia, in addition to mild hepatocyte defects. However, little is known about the hepatic consequences of deficient HNF1B function in humans. Three patients with heterozygous HNF1B deficiency were found to have normal bile duct formation on radiology and routine liver pathology. Electron microscopy revealed a paucity or absence of normal primary cilia. Therefore, heterozygous HNF1B deficiency is associated with ciliary anomalies in cholangiocytes, and this may cause cholestasis.

Document type Article de périodique (Journal article) – Article de recherche
Access type Accès restreint
Publication date 2012
Language Anglais
Journal information "Hepatology" - Vol. 56, no. 3, p. 1178-1181 (2012)
Peer reviewed yes
Publisher JohnWiley & Sons, Inc. ((United States) Hoboken, NY)
issn 0270-9139
e-issn 1527-3350
Publication status Publié
Affiliations UCL - SSS/DDUV - Institut de Duve
UCL - SSS/DDUV/LPAD - Liver and pancreas differentiation
MESH Subject Adult ; Bile Ducts ; Cilia ; Epithelial Cells ; Female ; Hepatocyte Nuclear Factor 1-beta ; Humans ; Male ; Middle Aged
Links
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Bibliographic reference Roelandt, Philip ; Antoniou, Aline ; Libbrecht, Louis ; Van Steenbergen, Werner ; Laleman, Wim ; et. al. HNF1B deficiency causes ciliary defects in human cholangiocytes. In: Hepatology, Vol. 56, no. 3, p. 1178-1181 (2012)
Permanent URL http://hdl.handle.net/2078/120797