What do three studies show about HNF1B in kidney development?
A focused literature search turns three primary-study abstracts into a comparison of models, mechanisms and findings.
Ask your AI client
Use GeneFoundry to find three primary studies of HNF1B in kidney development. Retrieve their full abstracts and compare the experimental models, the main findings and what each study adds. Cite every finding with its PMID and distinguish experimental mechanisms from evidence in patients.
The result
The three abstracts examine complementary parts of HNF1B biology: regulation of its expression by Pax8, selective disruption of its downstream program by R295C, and kidney abnormalities after reduced HNF1B dosage in a mouse model.
| Study | Experimental model | Main finding | Source |
|---|---|---|---|
| Goea et al. · 2022 | Xenopus and mammalian renal cells | A conserved distal enhancer, CNS1, drove renal Hnf1b expression. Functional assays and CRISPR experiments supported Pax8-dependent enhancer activity. | PMID 36402859 |
| Grand et al. · 2023 | Reprogrammed mouse fibroblasts and Xenopus | R295C retained renal reprogramming and induction capacity but altered specific downstream gene sets. The effect was selective rather than a general loss of transcriptional activity. | PMID 36522156 |
| Niborski et al. · 2021 | Mouse model carrying a human splice-site mutation | Heterozygous mice had reduced HNF1B protein, embryonic renal cysts and delayed proximal-tubule differentiation. A subset of developmental target genes was dysregulated. | PMID 33737325 |
Together, these experiments support studying both HNF1B dosage and the particular target-gene programs affected by a mutation. This comparison is a synthesis of the retrieved abstracts.
Read the linked full papers before using these findings to design an experiment or interpret a specific variant.
Original source records
How GeneFoundry got this
Find relevant studies
Search PubTator for HNF1B kidney development and nephron biology, requesting abstracts for ten relevance-ranked records.
pubtator_search_literature{ "text": "HNF1B kidney development nephron", "limit": 10, "metadata": "with_abstract", "sort": "score desc" }Read the three complete abstracts
Retrieve all abstract passages for the selected PMIDs; the returned coverage is abstract-only for all three.
pubtator_get_publication_passages{ "pmids": [ "36402859", "36522156", "33737325" ], "mode": "full_abstract", "max_passages_per_pmid": 10, "verbosity": "standard" }
This focused selection covers three experimental papers, not a systematic review. Abstract-level findings from model systems do not establish the effect of an individual patient’s variant.