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Article

Combinatorial effects on gene expression at the Lbx1/Fgf8 locus resolve split-hand/foot malformation type 3.

Nature communications - 17 Mar 2023

Cova Giulia, Glaser Juliane, Schöpflin Robert, Prada-Medina Cesar Augusto, Ali Salaheddine, Franke Martin, Falcone Rita, Federer Miriam, Ponzi Emanuela, Ficarella Romina, Novara Francesca, Wittler Lars, Timmermann Bernd, Gentile Mattia, Zuffardi Orsetta, Spielmann Malte, Mundlos Stefan

Abstract excerpt

Split-Hand/Foot Malformation type 3 (SHFM3) is a congenital limb malformation associated with tandem duplications at the LBX1/FGF8 locus. Yet, the disease patho-mechanism remains unsolved. Here we investigate the functional consequences of SHFM3-associated rearrangements on chromatin conformation and gene expression in vivo in transgenic mice. We show that the Lbx1/Fgf8 locus consists of two separate, but...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Limb Deformities, Congenital

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Identifiers

PMID: 36928426
DOI: 10.1038/s41467-023-37057-z
PMCID: PMC10020157

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Combinatorial effects on gene expression at the Lbx1/Fgf8 locus resolve split-hand/foot malformation type 3.PMID 36928426Read ↗

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