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Article

LBR mutation and nuclear envelope defects in a patient affected with Reynolds syndrome.

Journal of medical genetics - 1 Jun 2010

Gaudy-Marqueste Caroline, Roll Patrice, Esteves-Vieira Vera, Weiller Pierre-Jean, Grob Jean Jacques, Cau Pierre, Lévy Nicolas, De Sandre-Giovannoli Annachiara

Abstract excerpt

BACKGROUND Lamins are proteins of the nuclear envelope involved in 'laminopathies', an heterogeneous group of diseases sharing clinical similarities with systemic sclerosis (SSc). Methods In this context, a search was undertaken for mutations in LMNA, encoding Lamins A/C, and ZMPSTE24, LBR, LMNB1...

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Topics

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Share to Liver Cirrhosis, Biliary

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Receptors, Cytoplasmic and Nuclear

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Share to Scleroderma, Systemic

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Source

Identifiers

PMID: 20522425
DOI: 10.1136/jmg.2009.071696

Genes

LBR
LMNA
LMNB1
LMNB2
ZMPSTE24

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20522425-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

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