Distinct molecular and morphogenetic properties of mutations in the human HNF1β gene that lead to defective kidney development
S Bohn, H Thomas, G Turan, S Ellard… - Journal of the …, 2003 - journals.lww.com
The homeobox transcription factor hepatocyte nuclear factor 1β (HNF1β) is a tissue-specific
regulator that plays an essential role in early vertebrate development. In humans,
heterozygous mutations in the HNF1β gene are associated with young-onset diabetes as
well as a variety of disorders of renal development with cysts as the most consistent feature.
This report compares and classifies nine different HNF1β mutations that lead in humans to
distinct renal diseases, including solitary functioning kidney, renal dysplasia …
regulator that plays an essential role in early vertebrate development. In humans,
heterozygous mutations in the HNF1β gene are associated with young-onset diabetes as
well as a variety of disorders of renal development with cysts as the most consistent feature.
This report compares and classifies nine different HNF1β mutations that lead in humans to
distinct renal diseases, including solitary functioning kidney, renal dysplasia …