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BROUCQSAULT , Natacha

Last name: BROUCQSAULT

First name: Natacha

October 15, 2013 (v1)

Journal article

Metadata-only

Dysregulation of 4q35- and muscle-specific genes in fetuses with a short D4Z4 array linked to facio-scapulo-humeral dystrophy

Broucqsault, Natacha Morere, Julia Gaillard, Marie-Cécile

Facio-scapulo-humeral dystrophy (FSHD) results from deletions in the subtelomeric macrosatellite D4Z4 array on the 4q35 region. Upregulation of the DUX4 retrogene from the last D4Z4 repeated unit is thought to underlie FSHD pathophysiology. However, no one knows what triggers muscle defect and when alteration arises. To gain further insights...

Uploaded on: February 28, 2023
2019 (v1)

Journal article

Metadata-only

Deciphering the complexity of the 4q and 10q subtelomeres by molecular combing in healthy individuals and patients with facioscapulohumeral dystrophy

Nguyen, Karine Broucqsault, Natacha Chaix, Charlene

BACKGROUND: Subtelomeres are variable regions between telomeres and chromosomal-specific regions. One of the most studied pathologies linked to subtelomeric imbalance is facioscapulohumeral dystrophy (FSHD). In most cases, this disease involves shortening of an array of D4Z4 macrosatellite elements at the 4q35 locus. The disease also segregates...

Uploaded on: December 4, 2022