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There are 52576 results for: content related to: HNF1B deficiency causes ciliary defects in human cholangiocytes

  1. You have free access to this content
    The HNF1β transcription factor has several domains involved in nephrogenesis and partially rescues Pax8/lim1-induced kidney malformations

    European Journal of Biochemistry

    Volume 271, Issue 18, September 2004, Pages: 3715–3728, Guizhi Wu, Silvia Bohn and Gerhart U. Ryffel

    Article first published online : 27 AUG 2004, DOI: 10.1111/j.1432-1033.2004.04312.x

  2. Chronic renal failure of unknown origin is caused by HNF1B mutations in 9% of adult patients: A single centre cohort analysis


    Volume 19, Issue 4, April 2014, Pages: 202–209, Claudio Musetti, Marco Quaglia, Simona Mellone, Alessia Pagani, Ileana Fusco, Alice Monzani, Mara Giordano and Piero Stratta

    Article first published online : 24 MAR 2014, DOI: 10.1111/nep.12199

  3. Mutations in the Genes Encoding the Transcription Factors Hepatocyte Nuclear Factor 1 Alpha and 4 Alpha in Maturity-Onset Diabetes of the Young and Hyperinsulinemic Hypoglycemia

    Human Mutation

    Volume 34, Issue 5, May 2013, Pages: 669–685, Kevin Colclough, Christine Bellanne-Chantelot, Cecile Saint-Martin, Sarah E. Flanagan and Sian Ellard

    Article first published online : 2 APR 2013, DOI: 10.1002/humu.22279

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    Maturity onset diabetes of the young: clinical characteristics and outcome after kidney and pancreas transplantation in MODY3 and RCAD patients: a single center experience

    Transplant International

    Volume 25, Issue 5, May 2012, Pages: 564–572, Caroline Poitou, Hélène Francois, Christine Bellanne-Chantelot, Christian Noel, Antoine Jacquet, Séverine Clauin, Séverine Beaudreuil, Hani Damieri, Hadia Hebibi, Yacine Hammoudi, Gérard Benoit, Bernard Charpentier and Antoine Durrbach

    Article first published online : 20 MAR 2012, DOI: 10.1111/j.1432-2277.2012.01458.x

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    Hepatocyte nuclear factor 4 alpha is related to survival of the condensed mesenchyme in the developing mouse kidney

    Developmental Dynamics

    Volume 239, Issue 4, April 2010, Pages: 1145–1154, Tomonori Kanazawa, Akihiro Konno, Yoshiharu Hashimoto and Yasuhiro Kon

    Article first published online : 16 MAR 2010, DOI: 10.1002/dvdy.22276

  6. HNF1B mutation in a Turkish child with renal and exocrine pancreas insufficiency, diabetes and liver disease

    Pediatric Diabetes

    Volume 13, Issue 2, March 2012, Pages: e1–e5, E Nazli Gonc, Burcu Bulum Ozturk, Ingfrid S Haldorsen, Janne Molnes, Heike Immervoll, Helge Ræder, Anders Molven, Oddmund Søvik and Pål R Njølstad

    Article first published online : 18 JUL 2011, DOI: 10.1111/j.1399-5448.2011.00773.x

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    Novel monogenic diabetes mutations in the P2 promoter of the HNF4A gene are associated with impaired function in vitro

    Diabetic Medicine

    Volume 27, Issue 6, June 2010, Pages: 631–635, A. Wirsing, K. A. Johnstone, L. W. Harries, S. Ellard, G. U. Ryffel, J. Stanik, D. Gasperikova, I. Klimes and R. Murphy

    Article first published online : 2 APR 2010, DOI: 10.1111/j.1464-5491.2010.03003.x

  8. Comprehensive molecular analysis of Japanese patients with pediatric-onset MODY-type diabetes mellitus

    Pediatric Diabetes

    Volume 13, Issue 1, February 2012, Pages: 26–32, Tohru Yorifuji, Rika Fujimaru, Yuki Hosokawa, Nobuyoshi Tamagawa, Momoko Shiozaki, Katsuya Aizu, Kazuhiko Jinno, Yoshihiro Maruo, Hironori Nagasaka, Toshihiro Tajima, Koji Kobayashi and Tatsuhiko Urakami

    Article first published online : 8 NOV 2011, DOI: 10.1111/j.1399-5448.2011.00827.x

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    Erratum: Erratum

    Vol. 14, Issue 3, 230, Article first published online: 23 APR 2013

  9. HNF1B deletions in patients with young-onset diabetes but no known renal disease

    Diabetic Medicine

    Volume 30, Issue 1, January 2013, Pages: 114–117, E. L. Edghill, K. Stals, R. A. Oram, M. H. Shepherd, A. T. Hattersley and S. Ellard

    Article first published online : 13 DEC 2012, DOI: 10.1111/j.1464-5491.2012.03709.x

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    Identification and Molecular Characterization of HNF1B Gene Mutations in Indian Diabetic Patients with Renal Abnormalities

    Annals of Human Genetics

    Volume 79, Issue 1, January 2015, Pages: 10–19, Sekar Kanthimathi, Kandasamy Balamurugan, Viswanathan Mohan, Coimbatore Subramaniyam Shanthirani, Vijay Gayathri and Venkatesan Radha

    Article first published online : 1 DEC 2014, DOI: 10.1111/ahg.12093

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    Loss of hepatocyte nuclear factor 1α function in human hepatocellular adenomas leads to aberrant activation of signaling pathways involved in tumorigenesis


    Volume 51, Issue 2, February 2010, Pages: 557–566, Laura Pelletier, Sandra Rebouissou, Alain Paris, Estelle Rathahao-Paris, Elisabeth Perdu, Paulette Bioulac-Sage, Sandrine Imbeaud and Jessica Zucman-Rossi

    Article first published online : 5 OCT 2009, DOI: 10.1002/hep.23362

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    A classification of ductal plate malformations based on distinct pathogenic mechanisms of biliary dysmorphogenesis


    Volume 53, Issue 6, June 2011, Pages: 1959–1966, Peggy Raynaud, Joshua Tate, Céline Callens, Sabine Cordi, Patrick Vandersmissen, Rodolphe Carpentier, Christine Sempoux, Olivier Devuyst, Christophe E. Pierreux, Pierre Courtoy, Karin Dahan, Katty Delbecque, Sébastien Lepreux, Marco Pontoglio, Lisa M. Guay-Woodford and Frédéric P. Lemaigre

    Article first published online : 2 MAY 2011, DOI: 10.1002/hep.24292

  13. HNF1B and JAZF1 genes, diabetes, and prostate cancer risk

    The Prostate

    Volume 70, Issue 6, 1 May 2010, Pages: 601–607, Victoria L. Stevens, Jiyoung Ahn, Juzhong Sun, Eric J. Jacobs, Steven C. Moore, Alpa V. Patel, Sonja I. Berndt, Demetrius Albanes and Richard B. Hayes

    Article first published online : 8 DEC 2009, DOI: 10.1002/pros.21094

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    Canonical Notch2 signaling determines biliary cell fates of embryonic hepatoblasts and adult hepatocytes independent of Hes1


    Volume 57, Issue 6, June 2013, Pages: 2469–2479, Petia Jeliazkova, Simone Jörs, Marcel Lee, Ursula Zimber-Strobl, Jorge Ferrer, Roland M. Schmid, Jens T. Siveke and Fabian Geisler

    Article first published online : 17 APR 2013, DOI: 10.1002/hep.26254

  15. The biliary epithelium gives rise to liver progenitor cells


    Volume 60, Issue 4, October 2014, Pages: 1367–1377, Daniel Rodrigo-Torres, Silvia Affò, Mar Coll, Oriol Morales-Ibanez, Cristina Millán, Delia Blaya, Anna Alvarez-Guaita, Carles Rentero, Juan José Lozano, Miguel Angel Maestro, Myriam Solar, Vicente Arroyo, Joan Caballería, Leo A. van Grunsven, Carlos Enrich, Pere Ginès, Ramon Bataller and Pau Sancho-Bru

    Article first published online : 21 AUG 2014, DOI: 10.1002/hep.27078

  16. Exocrine pancreatic function in hepatocyte nuclear factor 1β-maturity-onset diabetes of the young (HNF1B-MODY) is only moderately reduced: compensatory hypersecretion from a hypoplastic pancreas

    Diabetic Medicine

    Volume 30, Issue 8, August 2013, Pages: 946–955, E. Tjora, G. Wathle, F. Erchinger, T. Engjom, A. Molven, L. Aksnes, I. S. Haldorsen, G. Dimcevski, H. Ræder and P. R. Njølstad

    Article first published online : 19 APR 2013, DOI: 10.1111/dme.12190

  17. Loss of HNF1α function in human renal cell carcinoma: Frequent mutations in the VHL gene but not the HNF1α gene

    Molecular Carcinogenesis

    Volume 24, Issue 4, April 1999, Pages: 305–314, Ira Lemm, Anja Lingott, Elke Pogge v. Strandmann, Christiane Zoidl, Michael P. Bulman, Andrew T. Hattersley, Wolfgang A. Schulz, Thomas Ebert and Gerhart U. Ryffel

    Article first published online : 7 MAY 1999, DOI: 10.1002/(SICI)1098-2744(199904)24:4<305::AID-MC9>3.0.CO;2-8

  18. Lack of pancreatic body and tail in HNF1B mutation carriers

    Diabetic Medicine

    Volume 25, Issue 7, July 2008, Pages: 782–787, I. S. Haldorsen, M. Vesterhus, H. Ræder, D. K. Jensen, O. Søvik, A. Molven and P. R. Njølstad

    Article first published online : 4 JUL 2008, DOI: 10.1111/j.1464-5491.2008.02460.x

  19. The diagnosis and management of monogenic diabetes in children and adolescents

    Pediatric Diabetes

    Volume 15, Issue S20, September 2014, Pages: 47–64, Oscar Rubio-Cabezas, Andrew T Hattersley, Pål R Njølstad, Wojciech Mlynarski, Sian Ellard, Neil White, Dung Vu Chi and Maria E Craig

    Article first published online : 3 SEP 2014, DOI: 10.1111/pedi.12192

  20. Genomic profiling of papillary renal cell tumours identifies small regions of DNA alterations: a possible role of HNF1B in tumour development


    Volume 58, Issue 6, May 2011, Pages: 934–943, Adrianna Szponar, Maria V Yusenko, Roland Kuiper, Ad Geurts van Kessel and Gyula Kovacs

    Article first published online : 25 MAR 2011, DOI: 10.1111/j.1365-2559.2011.03795.x