Advanced search
1 file | 1.89 MB Add to list

HNF1B deficiency causes ciliary defects in human cholangiocytes

(2012) HEPATOLOGY. 56(3). p.1178-1181
Author
Organization
Abstract
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 Hnf1 beta 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.

Downloads

  • (...).pdf
    • full text
    • |
    • UGent only
    • |
    • PDF
    • |
    • 1.89 MB

Citation

Please use this url to cite or link to this publication:

MLA
Roelandt, Philip, Aline Antoniou, Louis Libbrecht, et al. “HNF1B Deficiency Causes Ciliary Defects in Human Cholangiocytes.” HEPATOLOGY 56.3 (2012): 1178–1181. Print.
APA
Roelandt, P., Antoniou, A., Libbrecht, L., Van Steenbergen, W., Laleman, W., Verslype, C., Van der Merwe, S., et al. (2012). HNF1B deficiency causes ciliary defects in human cholangiocytes. HEPATOLOGY, 56(3), 1178–1181.
Chicago author-date
Roelandt, Philip, Aline Antoniou, Louis Libbrecht, Werner Van Steenbergen, Wim Laleman, Chris Verslype, Schalk Van der Merwe, et al. 2012. “HNF1B Deficiency Causes Ciliary Defects in Human Cholangiocytes.” Hepatology 56 (3): 1178–1181.
Chicago author-date (all authors)
Roelandt, Philip, Aline Antoniou, Louis Libbrecht, Werner Van Steenbergen, Wim Laleman, Chris Verslype, Schalk Van der Merwe, Frederik Nevens, Rita De Vos, Evelyne Fischer, Marco Pontoglio, Frederic Lemaigre, and David Cassiman. 2012. “HNF1B Deficiency Causes Ciliary Defects in Human Cholangiocytes.” Hepatology 56 (3): 1178–1181.
Vancouver
1.
Roelandt P, Antoniou A, Libbrecht L, Van Steenbergen W, Laleman W, Verslype C, et al. HNF1B deficiency causes ciliary defects in human cholangiocytes. HEPATOLOGY. 2012;56(3):1178–81.
IEEE
[1]
P. Roelandt et al., “HNF1B deficiency causes ciliary defects in human cholangiocytes,” HEPATOLOGY, vol. 56, no. 3, pp. 1178–1181, 2012.
@article{3224429,
  abstract     = {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 Hnf1 beta 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.},
  author       = {Roelandt, Philip and Antoniou, Aline and Libbrecht, Louis and Van Steenbergen, Werner and Laleman, Wim and Verslype, Chris and Van der Merwe, Schalk and Nevens, Frederik and De Vos, Rita and Fischer, Evelyne and Pontoglio, Marco and Lemaigre, Frederic and Cassiman, David},
  issn         = {0270-9139},
  journal      = {HEPATOLOGY},
  language     = {eng},
  number       = {3},
  pages        = {1178--1181},
  title        = {HNF1B deficiency causes ciliary defects in human cholangiocytes},
  url          = {http://dx.doi.org/10.1002/hep.25876},
  volume       = {56},
  year         = {2012},
}

Altmetric
View in Altmetric
Web of Science
Times cited: