A human cell atlas of fetal chromatin accessibility

S Domcke, AJ Hill, RM Daza, J Cao, DR O'Day… - Science, 2020 - science.org
INTRODUCTION In recent years, the single-cell genomics field has made incredible
progress toward disentangling the cellular heterogeneity of human tissues. However, the …

New insights into the role of HNF-1β in kidney (patho) physiology

S Ferrè, P Igarashi - Pediatric Nephrology, 2019 - Springer
Hepatocyte nuclear factor-1β (HNF-1β) is an essential transcription factor that regulates the
development and function of epithelia in the kidney, liver, pancreas, and genitourinary tract …

A simple bioreactor-based method to generate kidney organoids from pluripotent stem cells

A Przepiorski, V Sander, T Tran, JA Hollywood… - Stem Cell Reports, 2018 - cell.com
Kidney organoids made from pluripotent stem cells have the potential to revolutionize how
kidney development, disease, and injury are studied. Current protocols are technically …

Role of transcription factor hepatocyte nuclear factor-1β in polycystic kidney disease

A Shao, SC Chan, P Igarashi - Cellular signalling, 2020 - Elsevier
Hepatocyte nuclear factor-1β (HNF-1β) is a DNA-binding transcription factor that is essential
for normal kidney development. Mutations of HNF1B in humans produce cystic kidney …

[HTML][HTML] Expansion of human iPSC-derived ureteric bud organoids with repeated branching potential

SI Mae, M Ryosaka, S Sakamoto, K Matsuse, A Nozaki… - Cell reports, 2020 - cell.com
Ureteric bud (UB) is the embryonic kidney progenitor tissue that gives rise to the collecting
duct and lower urinary tract. UB-like structures generated from human pluripotent stem cells …

PAX8 activates metabolic genes via enhancer elements in Renal Cell Carcinoma

M Bleu, S Gaulis, R Lopes, K Sprouffske, V Apfel… - Nature …, 2019 - nature.com
Transcription factor networks shape the gene expression programs responsible for normal
cell identity and pathogenic state. Using Core Regulatory Circuitry analysis (CRC), we …

[HTML][HTML] HNF1B mutations are associated with a Gitelman-like tubulopathy that develops during childhood

S Adalat, WN Hayes, WA Bryant, J Booth… - Kidney International …, 2019 - Elsevier
Background Mutations in the transcription factor hepatocyte nuclear factor 1B (HNF1B) are
the most common inherited cause of renal malformations, yet also associated with renal …

Mechanism of fibrosis in HNF1B-related autosomal dominant tubulointerstitial kidney disease

SC Chan, Y Zhang, A Shao, S Avdulov… - Journal of the …, 2018 - journals.lww.com
Background Mutation of HNF1B, the gene encoding transcription factor HNF-1β, is one
cause of autosomal dominant tubulointerstitial kidney disease, a syndrome characterized by …

Functional genomics analysis identifies loss of HNF1B function as a cause of Mayer–Rokitansky–Küster–Hauser syndrome

E Thomson, M Tran, G Robevska… - Human molecular …, 2023 - academic.oup.com
Mayer–Rokitansky–Küster–Hauser (MRKH) syndrome is a congenital condition
characterized by aplasia or hypoplasia of the uterus and vagina in women with a 46, XX …

[HTML][HTML] Temporally and spatially regulated collagen XVIII isoforms are involved in ureteric tree development via the TSP1-like domain

MM Rinta-Jaskari, F Naillat, HJ Ruotsalainen… - Matrix Biology, 2023 - Elsevier
Collagen XVIII (ColXVIII) is a component of the extracellular matrix implicated in
embryogenesis and control of tissue homoeostasis. We now provide evidence that ColXVIII …