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Liu, D. HNF1B Gene. Encyclopedia. Available online: https://encyclopedia.pub/entry/4099 (accessed on 29 September 2026).
Liu D. HNF1B Gene. Encyclopedia. Available at: https://encyclopedia.pub/entry/4099. Accessed September 29, 2026.
Liu, Dean. "HNF1B Gene" Encyclopedia, https://encyclopedia.pub/entry/4099 (accessed September 29, 2026).
Liu, D. (2020, December 23). HNF1B Gene. In Encyclopedia. https://encyclopedia.pub/entry/4099
Liu, Dean. "HNF1B Gene." Encyclopedia. Web. 23 December, 2020.
HNF1B Gene
Edit

HNF1 homeobox B

genes

References

  1. Bockenhauer D, Jaureguiberry G. HNF1B-associated clinical phenotypes: thekidney and beyond. Pediatr Nephrol. 2016 May;31(5):707-14. doi:10.1007/s00467-015-3142-2.
  2. Chen YZ, Gao Q, Zhao XZ, Chen YZ, Bennett CL, Xiong XS, Mei CL, Shi YQ, ChenXM. Systematic review of TCF2 anomalies in renal cysts and diabetessyndrome/maturity onset diabetes of the young type 5. Chin Med J (Engl). 2010Nov;123(22):3326-33. Review.
  3. Clissold RL, Shaw-Smith C, Turnpenny P, Bunce B, Bockenhauer D, Kerecuk L,Waller S, Bowman P, Ford T, Ellard S, Hattersley AT, Bingham C. Chromosome 17q12 microdeletions but not intragenic HNF1B mutations link developmental kidneydisease and psychiatric disorder. Kidney Int. 2016 Jul;90(1):203-11. doi:10.1016/j.kint.2016.03.027.
  4. El-Khairi R, Vallier L. The role of hepatocyte nuclear factor 1β in diseaseand development. Diabetes Obes Metab. 2016 Sep;18 Suppl 1:23-32. doi:10.1111/dom.12715. Review.
  5. Ferrè S, Igarashi P. New insights into the role of HNF-1β in kidney(patho)physiology. Pediatr Nephrol. 2019 Aug;34(8):1325-1335. doi:10.1007/s00467-018-3990-7.
  6. Heidet L, Decramer S, Pawtowski A, Morinière V, Bandin F, Knebelmann B, Lebre AS, Faguer S, Guigonis V, Antignac C, Salomon R. Spectrum of HNF1B mutations in alarge cohort of patients who harbor renal diseases. Clin J Am Soc Nephrol. 2010Jun;5(6):1079-90. doi: 10.2215/CJN.06810909.
  7. Laffargue F, Bourthoumieu S, Llanas B, Baudouin V, Lahoche A, Morin D,Bessenay L, De Parscau L, Cloarec S, Delrue MA, Taupiac E, Dizier E, Laroche C,Bahans C, Yardin C, Lacombe D, Guigonis V. Towards a new point of view on thephenotype of patients with a 17q12 microdeletion syndrome. Arch Dis Child. 2015Mar;100(3):259-64. doi: 10.1136/archdischild-2014-306810.
  8. Madariaga L, García-Castaño A, Ariceta G, Martínez-Salazar R, Aguayo A,Castaño L; Spanish group for the study of HNF1B mutations . Variable phenotype inHNF1B mutations: extrarenal manifestations distinguish affected individuals from the population with congenital anomalies of the kidney and urinary tract. ClinKidney J. 2018 Nov 13;12(3):373-379. doi: 10.1093/ckj/sfy102.Jun.
  9. Mancusi S, La Manna A, Bellini G, Scianguetta S, Roberti D, Casale M, Rossi F,Della Ragione F, Perrotta S. HNF-1β mutation affects PKD2 and SOCS3 expressioncausing renal cysts and diabetes in MODY5 kindred. J Nephrol. 2013Jan-Feb;26(1):207-12. doi: 10.5301/jn.5000126.
  10. Mefford HC, Clauin S, Sharp AJ, Moller RS, Ullmann R, Kapur R, Pinkel D,Cooper GM, Ventura M, Ropers HH, Tommerup N, Eichler EE, Bellanne-Chantelot C.Recurrent reciprocal genomic rearrangements of 17q12 are associated with renaldisease, diabetes, and epilepsy. Am J Hum Genet. 2007 Nov;81(5):1057-69.
  11. van der Made CI, Hoorn EJ, de la Faille R, Karaaslan H, Knoers NV, HoenderopJG, Vargas Poussou R, de Baaij JH. Hypomagnesemia as First Clinical Manifestationof ADTKD-HNF1B: A Case Series and Literature Review. Am J Nephrol.2015;42(1):85-90. Review.
  12. Verhave JC, Bech AP, Wetzels JF, Nijenhuis T. Hepatocyte Nuclear Factor1β-Associated Kidney Disease: More than Renal Cysts and Diabetes. J Am SocNephrol. 2016 Feb;27(2):345-53. doi: 10.1681/ASN.2015050544.Review.
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