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Stephanie Backer

Explore the profile of Stephanie Backer including associated specialties, affiliations and a list of published articles. Areas
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Articles 16
Citations 365
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Recent Articles
1.
Eid L, Lokmane L, Raju P, Tene Tadoum S, Jiang X, Toulouse K, et al.
Mol Psychiatry . 2024 Sep; PMID: 39300136
Recessive and de novo mutations in the TRIO gene are associated with intellectual deficiency (ID), autism spectrum disorder (ASD) and developmental epileptic encephalopathies (DEE). TRIO is a dual guanine nucleotide...
2.
Wurmser M, Madani R, Chaverot N, Backer S, Borok M, Dos Santos M, et al.
PLoS Genet . 2023 Jun; 19(6):e1010781. PMID: 37267426
Four SIX homeoproteins display a combinatorial expression throughout embryonic developmental myogenesis and they modulate the expression of the myogenic regulatory factors. Here, we provide a deep characterization of their role...
3.
Dos Santos M, Backer S, Aurade F, Wong M, Wurmser M, Pierre R, et al.
Nat Commun . 2022 Feb; 13(1):1039. PMID: 35210422
The contractile properties of adult myofibers are shaped by their Myosin heavy chain isoform content. Here, we identify by snATAC-seq a 42 kb super-enhancer at the locus regrouping the fast...
4.
Dos Santos M, Gioftsidi S, Backer S, Machado L, Relaix F, Maire P, et al.
STAR Protoc . 2021 Aug; 2(3):100694. PMID: 34382019
Single-nucleus RNA sequencing allows the profiling of gene expression in isolated nuclei. Here, we describe a step-by-step protocol optimized for adult mouse skeletal muscles. This protocol provides two main advantages...
5.
Dos Santos M, Backer S, Saintpierre B, Izac B, Andrieu M, Letourneur F, et al.
Nat Commun . 2020 Oct; 11(1):5102. PMID: 33037211
Skeletal muscle fibers are large syncytia but it is currently unknown whether gene expression is coordinately regulated in their numerous nuclei. Here we show by snRNA-seq and snATAC-seq that slow,...
6.
Allach El Khattabi L, Backer S, Pinard A, Dieudonne M, Tsatsaris V, Vaiman D, et al.
Eur J Hum Genet . 2018 Sep; 27(1):49-60. PMID: 30206355
We identified, through a genome-wide search for new imprinted genes in the human placenta, DSCAM (Down Syndrome Cellular Adhesion Molecule) as a paternally expressed imprinted gene. Our work revealed the...
7.
Backer S, Lokmane L, Landragin C, Deck M, Garel S, Bloch-Gallego E
Development . 2018 Sep; 145(19). PMID: 30177526
Trio, a member of the Dbl family of guanine nucleotide exchange factors, activates Rac1 downstream of netrin 1/DCC signalling in axon outgrowth and guidance. Although it has been proposed that...
8.
Chevy Q, Heubl M, Goutierre M, Backer S, Moutkine I, Eugene E, et al.
J Neurosci . 2015 Dec; 35(48):15772-86. PMID: 26631461
Expression of the neuronal K/Cl transporter KCC2 is tightly regulated throughout development and by both normal and pathological neuronal activity. Changes in KCC2 expression have often been associated with altered...
9.
Couesnon A, Offner N, Bernard V, Chaverot N, Backer S, Dimitrov A, et al.
Development . 2013 Mar; 140(7):1583-93. PMID: 23482493
CLIPR-59 is a new member of the cytoplasmic linker proteins (CLIP) family mainly localized to the trans-Golgi network. We show here that Clipr-59 expression in mice is restricted to specific...
10.
Hidalgo-Sanchez M, Backer S, Puelles L, Bloch-Gallego E
Dev Biol . 2012 Sep; 371(2):215-26. PMID: 22960232
The precerebellar nuclei (PCN) originate from the rhombic lip, a germinal neuroepithelium adjacent to the roof plate of the fourth ventricle. We first report here that, in chicken, the Brn3a-expressing...