Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing
C Redin, B Gérard, J Lauer, Y Herenger… - Journal of medical …, 2014 - jmg.bmj.com
Background Intellectual disability (ID) is characterised by an extreme genetic heterogeneity.
Several hundred genes have been associated to monogenic forms of ID, considerably …
Several hundred genes have been associated to monogenic forms of ID, considerably …
[HTML][HTML] Splicing misregulation of SCN5A contributes to cardiac-conduction delay and heart arrhythmia in myotonic dystrophy
F Freyermuth, F Rau, Y Kokunai, T Linke… - Nature …, 2016 - nature.com
Myotonic dystrophy (DM) is caused by the expression of mutant RNAs containing expanded
CUG repeats that sequester muscleblind-like (MBNL) proteins, leading to alternative splicing …
CUG repeats that sequester muscleblind-like (MBNL) proteins, leading to alternative splicing …
[HTML][HTML] Constitutive arsenite oxidase expression detected in arsenic-hypertolerant Pseudomonas xanthomarina S11
S Koechler, F Arsène-Ploetze… - Research in …, 2015 - Elsevier
Pseudomonas xanthomarina S11 is an arsenite-oxidizing bacterium isolated from an
arsenic-contaminated former gold mine in Salsigne, France. This bacterium showed high …
arsenic-contaminated former gold mine in Salsigne, France. This bacterium showed high …
Helios represses megakaryocyte priming in hematopoietic stem and progenitor cells
G Cova, C Taroni, MC Deau, Q Cai… - Journal of Experimental …, 2021 - rupress.org
Our understanding of cell fate decisions in hematopoietic stem cells is incomplete. Here, we
show that the transcription factor Helios is highly expressed in murine hematopoietic stem …
show that the transcription factor Helios is highly expressed in murine hematopoietic stem …
Genome Sequence of Halomonas sp. Strain A3H3, Isolated from Arsenic-Rich Marine Sediments
S Koechler, F Plewniak, V Barbe… - Genome …, 2013 - Am Soc Microbiol
We report the genome sequence of Halomonas sp. strain A3H3, a bacterium with a high
tolerance to arsenite, isolated from multicontaminated sediments of the l'Estaque harbor in …
tolerance to arsenite, isolated from multicontaminated sediments of the l'Estaque harbor in …
[HTML][HTML] TAF4 inactivation reveals the 3 dimensional growth promoting activities of collagen 6A3
I Martianov, E Cler, I Duluc, S Vicaire, M Philipps… - PloS one, 2014 - journals.plos.org
Collagen 6A3 (Col6a3), a component of extracellular matrix, is often up-regulated in tumours
and is believed to play a pro-oncogenic role. However the mechanisms of its tumorigenic …
and is believed to play a pro-oncogenic role. However the mechanisms of its tumorigenic …
An Efficient Protocol for CUT&RUN Analysis of FACS-Isolated Mouse Satellite Cells
K Ghaibour, J Rizk, C Ebel, T Ye, M Philipps… - JoVE (Journal of …, 2023 - jove.com
Genome-wide analyses with small cell populations are a major constraint for studies,
particularly in the stem cell field. This work describes an efficient protocol for the …
particularly in the stem cell field. This work describes an efficient protocol for the …
Author Spotlight: Cistrome Analysis in Mouse Muscle Stem Cells
K Ghaibour, J Rizk, C Ebel, T Ye, M Philipps… - JoVE (Journal of …, 2023 - jove.com
Genome-wide analyses with small cell populations are a major constraint for studies,
particularly in the stem cell field. This work describes an efficient protocol for the …
particularly in the stem cell field. This work describes an efficient protocol for the …