GSM4075537[Accession] - GEO DataSets

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Items: 4

Select item 2001373351.

Non-coding deletions identify Maenli lncRNA as a limb-specific En1 regulator

(Submitter supplied) This SuperSeries is composed of the SubSeries listed below.

Organism:: Mus musculus

Type:: Expression profiling by high throughput sequencing; Genome binding/occupancy profiling by high throughput sequencing; Other

Platforms:: GPL17021 GPL21103
70 Samples

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Accession:: GSE137335

ID:: 200137335

Select item 2001373312.

Loss of Maenli lncRNA expression causes engrailed-1 dependent congenital limb malformations [ChIP-seq]

(Submitter supplied) Long non-coding RNAs (lncRNAs) can be important components in gene regulatory networks1, but we are only beginning to understand the nature and extent of their involvement in human Mendelian disease. Here we show that deletions of an unannotated lncRNA locus on human chromosome 2 cause a severe congenital limb malformation. Using exome sequencing and array CGH, we identified homozygous 27-63 kb deletions located 300 kb upstream of the engrailed-1 (EN1) gene in patients with a complex limb malformation, featuring mesomelic shortening, syndactyly, and ventral nails (dorsal dimelia). more...