ReviewNature reviews. Nephrology2013
Renal involvement and the role of Notch signalling in Alagille syndrome.
Review in Nature reviews. Nephrology, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers.
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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.
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Who cites it
29 citing papers in PubMed, 86 citations in OpenAlex.
- The basolateral amygdala decodes visceral pain and itch via distinct circuits and molecules.Nature communications · 2026Article
- Bilateral acute mastoiditis during Epstein-Barr virus infection in a child with alagille syndrome: a case report and scoping review.Italian journal of pediatrics · 2026Article
- Human fetal kidney organoids model early human nephrogenesis and Notch-driven cell fate.The EMBO journal · 2025Article
- Notch2-expressing CD4Cellular & molecular immunology · 2025Article
- Kidney and vascular involvement in Alagille syndrome.Pediatric nephrology (Berlin, Germany) · 2025Review
- Genetics of liver disease in adults.Hepatology communications · 2024Review
- The genetics and pathogenesis of CAKUT.Nature reviews. Nephrology · 2023Review
- Polycystic kidneys: interaction of notch and renin.Clinical science (London, England : 1979) · 2023Article
- Clinical and Genetic Characteristics of Alagille Syndrome in Adults.Journal of clinical and translational hepatology · 2023Article
- Pathogenic Novel Heterozygous Variant c.1076c>T p. (Ser359Phe) chr1: 120512166 in NOTCH2 Gene, Type 2 Alagille Syndrome Causing Neonatal Cholestasis: A Case Report.The American journal of case reports · 2022Article
- Applications of human organoids in the personalized treatment for digestive diseases.Signal transduction and targeted therapy · 2022Review
- Notch signaling pathway: architecture, disease, and therapeutics.Signal transduction and targeted therapy · 2022Review
- Kidney disease in children with heart or liver transplant.Pediatric nephrology (Berlin, Germany) · 2021Review
- Beyond Atherosclerosis and Fibromuscular Dysplasia: Rare Causes of Renovascular Hypertension.Hypertension (Dallas, Tex. : 1979) · 2021Review
- Mutations inJournal of the American Society of Nephrology : JASN · 2021Article
- An Adult Patient with Alagille Syndrome Showing Mainly Renal Failure and Vascular Abnormality without Liver Manifestation.Internal medicine (Tokyo, Japan) · 2020Article
- Notch signaling regulates Akap12 expression and primary cilia length during renal tubule morphogenesis.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2020Article
- Oral manifestations of Alagille syndrome.BMJ case reports · 2020Article
- A herpesvirus transactivator and cellular POU proteins extensively regulate DNA binding of the host Notch signaling protein RBP-Jκ to the virus genome.The Journal of biological chemistry · 2019Article
- [Liver dysfunction for 8 years with hypertension for 1 week in an 8-year-old girl].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2019Article
Corrections and comments
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Authors and funding
3 authors at 2 institutions in 2 countries.
Funding
Abstract
Alagille syndrome is an autosomal dominant disorder with variable multisystem organ involvement that is caused by mutations in one of two genes in the Notch signalling pathway, JAG1 or NOTCH2. Alagille syndrome is characterized by bile duct paucity, along with at least three of the following features: cholestasis, cardiac defects, skeletal abnormalities, ocular abnormalities and characteristic facies. However, the clinical features of Alagille syndrome are highly variable, and children or adults may also present with predominantly renal findings and little or no hepatic involvement. Renal involvement occurs in 40% of JAG1-mutation-positive individuals. Renal insufficiency is common and has been specifically reported in children with Alagille syndrome who have end-stage liver disease. The role of NOTCH2 and JAG1 in formation of proximal nephron structures and podocytes might explain the observed phenotypes of renal dysplasia and proteinuria in patients with Alagille syndrome, and renal tubular acidosis may be the result of JAG1 expression in the collecting ducts. Renal vascular hypertension in patients with Alagille syndrome is explained by the widespread vasculopathy and the role of Notch signalling in vascular development. Increased awareness of Alagille syndrome amongst nephrologists may lead to more diagnoses of Alagille syndrome in patients with apparently isolated renal disease.
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Registered trials
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