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There are 13762 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

    Nephrology

    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

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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

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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

  5. HNF1β and S100A1 are useful biomarkers for distinguishing renal oncocytoma and chromophobe renal cell carcinoma in FNA and core needle biopsies

    Cancer Cytopathology

    Volume 123, Issue 5, May 2015, Pages: 298–305, James R. Conner, Michelle S. Hirsch and Vickie Y. Jo

    Article first published online : 4 MAR 2015, DOI: 10.1002/cncy.21530

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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

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

    Hepatology

    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

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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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    Preexisting epithelial diversity in normal human livers: A tissue-tethered cytometric analysis in portal/periportal epithelial cells

    Hepatology

    Volume 57, Issue 4, April 2013, Pages: 1632–1643, Kumiko Isse, Andrew Lesniak, Kedar Grama, John Maier, Susan Specht, Marcela Castillo-Rama, John Lunz, Badrinath Roysam, George Michalopoulos and Anthony J. Demetris

    Article first published online : 19 MAR 2013, DOI: 10.1002/hep.26131

  10. 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

  11. 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

  12. 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

  13. 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

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

    Histopathology

    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

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

    Hepatology

    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

  16. Maturity onset diabetes of the young in India – a distinctive mutation pattern identified through targeted next-generation sequencing

    Clinical Endocrinology

    Volume 82, Issue 4, April 2015, Pages: 533–542, Aaron Chapla, Mahesh Doddabelavangala Mruthyunjaya, Hesarghatta Shyamasunder Asha, Denny Varghese, Manika Varshney, Senthil K. Vasan, Padmanaban Venkatesan, Veena Nair, Sarah Mathai, Thomas Vizhalil Paul and Nihal Thomas

    Article first published online : 7 AUG 2014, DOI: 10.1111/cen.12541

  17. 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

  18. 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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    Tbx3 promotes liver bud expansion during mouse development by suppression of cholangiocyte differentiation

    Hepatology

    Volume 49, Issue 3, March 2009, Pages: 969–978, Timo H.-W. Lüdtke, Vincent M. Christoffels, Marianne Petry and Andreas Kispert

    Article first published online : 24 OCT 2008, DOI: 10.1002/hep.22700

  20. 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