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Article

Elevated level of lysophosphatidic acid among patients with HNF1B mutations and its role in RCAD syndrome: a multiomic study.

Metabolomics : Official journal of the Metabolomic Society - 18 Feb 2022

Małachowska Beata, Janikiewicz Justyna, Pietrowska Karolina, Wyka Krystyna, Madzio Joanna, Wypyszczak Kamila, Tkaczyk Marcin, Chrul Sławomir, Zwiech Rafał, Hogendorf Anna, Małecki Maciej T, Borowiec Maciej, Krętowski Adam, Młynarski Wojciech, Dobrzyń Agnieszka, Ciborowski Michał, Fendler Wojciech

Abstract excerpt

INTRODUCTION: Patients with hepatocyte nuclear factor-1 beta (HNF1B) mutations present a variable phenotype with two main symptoms: maturity onset diabetes of the young (MODY) and polycystic kidney disease (PKD). OBJECTIVES: Identification of serum metabolites specific for HNF1Bmut and evaluation of their role in disease pathogenesis. METHODS: We recruited patients with HNF1Bmut (N = 10), HNF1Amut (N = 10), PKD:...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 35179657
DOI: 10.1007/s11306-022-01873-z
PMCID: PMC8857088

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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