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Article

PLIN1 Haploinsufficiency Is Not Associated With Lipodystrophy.

The Journal of clinical endocrinology and metabolism - 1 Sept 2018

Laver Thomas W, Patel Kashyap A, Colclough Kevin, Curran Jacqueline, Dale Jane, Davis Nikki, Savage David B, Flanagan Sarah E, Ellard Sian, Hattersley Andrew T, Weedon Michael N

Abstract excerpt

Context: Monogenic partial lipodystrophy is a genetically heterogeneous disease where only variants with specific genetic mechanisms are causative. Three heterozygous protein extending frameshift variants in PLIN1 have been reported to cause a phenotype of partial lipodystrophy and insulin resistance. Objective: We investigated if null variants in PLIN1 cause lipodystrophy. Methods: As part of a targeted...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 30020498
DOI: 10.1210/jc.2017-02662
PMCID: PMC6126890

Genes

PLIN1
LMNA
PPARG

Provenance

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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