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Article

IGSF3 mutation identified in patient with severe COPD alters cell function and motility.

JCI insight - 23 Jul 2020

Schweitzer Kelly S, Jinawath Natini, Yonescu Raluca, Ni Kevin, Rush Natalia, Charoensawan Varodom, Bronova Irina, Berdyshev Evgeny, Leach Sonia M, Gillenwater Lucas A, Bowler Russel P, Pearse David B, Griffin Constance A, Petrache Irina

Abstract excerpt

Cigarette smoking (CS) and genetic susceptibility determine the risk for development, progression, and severity of chronic obstructive pulmonary diseases (COPD). We posited that an incidental balanced reciprocal chromosomal translocation was linked to a patient's risk of severe COPD. We determined that 46,XX,t(1;4)(p13.1;q34.3) caused a breakpoint in the immunoglobulin superfamily member 3 (IGSF3) gene, with...

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Topics

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Share to Cell Adhesion
Share to Chromosomes, Human, Pair 1

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chromosomes, Human, Pair 4

Share to Cigarette Smoking

Share to Immunoglobulins

Share to Integrin beta1

Share to Pulmonary Disease, Chronic Obstructive

Share to Translocation, Genetic

Source

Open in PubMed Open full text

Identifiers

PMID: 32573489
DOI: 10.1172/jci.insight.138101
PMCID: PMC7453886

Genes

IGSF3
CS
CD9

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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