Associated Papers
MODY5 and 17q12 Microdeletion Syndrome: Phenotype Variability, Prenatal and Postnatal Counseling.
Fontana P et al.
Genes, 2025
Framework From a Multidisciplinary Approach for Transitioning Variants of Unknown Significance From Clinical Genetic Testing in Kidney Disease to a Definitive Classification.
Mirshahi UL et al.
Kidney International Reports, 2022
Transcription factor HNF1β regulates expression of the calcium-sensing receptor in the thick ascending limb of the kidney.
Kompatscher A et al.
American Journal of Physiology. Renal Physiology, 2018
Loss of transcriptional activation of the potassium channel Kir5.1 by HNF1β drives autosomal dominant tubulointerstitial kidney disease.
Kompatscher A et al.
Kidney International, 2017
Population-Based Assessment of a Biomarker-Based Screening Pathway to Aid Diagnosis of Monogenic Diabetes in Young-Onset Patients.
Shields BM et al.
Diabetes Care, 2017
Mutations in PCBD1 cause hypomagnesemia and renal magnesium wasting.
Ferrè S et al.
Journal of the American Society of Nephrology : Jasn, 2014
Early development of hyperparathyroidism due to loss of PTH transcriptional repression in patients with HNF1β mutations?
Ferrè S et al.
The Journal of Clinical Endocrinology and Metabolism, 2013
Improved genetic testing for monogenic diabetes using targeted next-generation sequencing.
Ellard S et al.
Diabetologia, 2013
HNF-1B specifically regulates the transcription of the γa-subunit of the Na+/K+-ATPase.
Ferrè S et al.
Biochemical and Biophysical Research Communications, 2011
HNF1B mutations associate with hypomagnesemia and renal magnesium wasting.
Adalat S et al.
Journal of the American Society of Nephrology : Jasn, 2009
A genetic syndrome of chronic renal failure with multiple renal cysts and early onset diabetes.
Thomas CP et al.
Kidney International, 2008
Mutations in hepatocyte nuclear factor-1beta and their related phenotypes.
Edghill EL et al.
Journal of Medical Genetics, 2006
Select a paper to view details