ArticleAmerican journal of physiology. Renal physiology2019
Heterozygous Pkhd1
Article in American journal of physiology. Renal physiology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
19 citing papers in PubMed, 24 citations in OpenAlex.
- Unmasking Early Hepatorenal Fibrosis in Polycystic Kidney Disease Using Noninvasive Precision Molecular MRI of Collagen.bioRxiv : the preprint server for biology · 2026Article
- Fibrocystin/polyductin (FPC): new functional insights into ARPKD pathogenesis revealed by informatics, comparative genomics, and model systems.Pediatric nephrology (Berlin, Germany) · 2026Review
- Whole Exome Sequencing Reveals Promising Genes Associated with Congenital Renal Parenchymal Anomalies in Greek Children.Children (Basel, Switzerland) · 2026Article
- Medullary sponge kidney: in-depth phenotyping for a better understanding of functional and structural abnormalities.Journal of nephrology · 2025Article
- Porous perspectives: a comprehensive review of medullary sponge kidney.International urology and nephrology · 2025Review
- Physiologic mechanisms underlying polycystic kidney disease.Physiological reviews · 2025Review
- Co-Occurrence of Neurofibromatosis Type 1 and Polycystic Liver Disease: A Case of Hypertension with PKHD1 Variant.The American journal of case reports · 2025Article
- A case of diffuse kidney hyperechogenicity in early childhood associated with biallelic PKHD1 variants.Pediatric nephrology (Berlin, Germany) · 2024Article
- Pathogenic relationship between phenotypes of ARPKD and novel compound heterozygous mutations ofFrontiers in genetics · 2024Article
- Pkhd1Journal of molecular medicine (Berlin, Germany) · 2023Article
- A novel ARPKD mouse model with near-complete deletion of the Polycystic Kidney and Hepatic Disease 1 (Pkhd1) genomic locus presents with multiple phenotypes but not renal cysts.Kidney international · 2023Article
- Review of the Use of Animal Models of Human Polycystic Kidney Disease for the Evaluation of Experimental Therapeutic Modalities.Journal of clinical medicine · 2023Review
- Review
- Atypical Clinical Presentation of Autosomal Recessive Polycystic Kidney Mimicking Medullary Sponge Kidney Disease.Kidney international reports · 2022Article
- UAB-UCSD O'Brien Center for Acute Kidney Injury Research.American journal of physiology. Renal physiology · 2021Review
- MosaicFrontiers in medicine · 2021Article
- Challenging Disease Ontology by Instances of AtypicalFrontiers in genetics · 2021Article
- Adult Inactivation of the Recessive Polycystic Kidney Disease Gene Causes Polycystic Liver Disease.Kidney360 · 2020Article
- Medullary Sponge Kidney: Current Perspectives.International journal of nephrology and renovascular disease · 2019Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
16 authors at 2 institutions in 1 country.
Funding
Abstract
Heterozygosity for human polycystic kidney and hepatic disease 1 ( PKHD1) mutations was recently associated with cystic liver disease and radiographic findings resembling medullary sponge kidney (MSK). However, the relevance of these associations has been tempered by a lack of cystic liver or renal disease in heterozygous mice carrying Pkhd1 gene trap or exon deletions. To determine whether heterozygosity for a smaller Pkhd1 defect can trigger cystic renal disease in mice, we generated and characterized mice with the predicted truncating Pkhd1
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.