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Article

Mono-allelic pathogenic variants in JAG1 cause autosomal dominant tubulo-interstitial kidney disease (ADTKD-JAG1).

Kidney international - 1 Feb 2026

Menguy Lucie, Hudier Laurent, Zaidan Mohamad, Knebelmann Bertrand, Sayer John A, Arcila-Galvis Juliana, Arondel Christelle, Hummel Aurélie, Dorval Guillaume, Morinière Vincent, Fula-Pitu Landrine, Guerrera Chiara, Buob David, Rabeyrin Maud, Marijon Pierre, Jean-Marcais Nolwen, Fournier Chloé, Duong Van Huyen Jean-Paul, Antignac Corinne, Saunier Sophie, Heidet Laurence

Abstract excerpt

INTRODUCTION: Autosomal dominant tubulointerstitial kidney disease (ADTKD) is a common monogenic kidney disease leading to kidney failure usually during mid adulthood. It is due to pathogenic variants in at least five genes. However, despite thorough screening of UMOD, MUC1, REN, HNF1B and SEC61A1, 25 to 50% of families remain without molecular diagnosis. METHODS: Here, we investigated a cohort of 203 families...

Read the complete abstract on PubMed

Topics

Humans
Jagged-1 Protein
Male
Female

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Alagille Syndrome

Pedigree

Adult

Middle Aged

Endoplasmic Reticulum Stress

Mutation

Kidney

Alleles

Nephritis, Interstitial

Source

Identifiers

PMID: 41061854
DOI: 10.1016/j.kint.2025.08.033

Genes

JAG1
HNF1B
MUC1
REN
SEC61A1
UMOD

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 25 Oct 2026.

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