[PDF][PDF] TET2 inactivation results in pleiotropic hematopoietic abnormalities in mouse and is a recurrent event during human lymphomagenesis

…, CK Lopez, I Plo, O Wagner-Ballon, M Do Cruzeiro… - Cancer cell, 2011 - cell.com
Loss-of-function mutations affecting one or both copies of the Ten-Eleven-translocation (TET)2
gene have been described in various human myeloid malignancies. We report that …

Usher type 1G protein sans is a critical component of the tip-link complex, a structure controlling actin polymerization in stereocilia

…, S Chardenoux, M Do Cruzeiro… - Proceedings of the …, 2011 - National Acad Sciences
The mechanotransducer channels of auditory hair cells are gated by tip-links, oblique
filaments that interconnect the stereocilia of the hair bundle. Tip-links stretch from the tips of …

[PDF][PDF] A specific ChREBP and PPARα cross-talk is required for the glucose-mediated FGF21 response

…, C Lukowicz, M Cauzac, E Tournier, M Do-Cruzeiro… - Cell reports, 2017 - cell.com
While the physiological benefits of the fibroblast growth factor 21 (FGF21) hepatokine are
documented in response to fasting, little information is available on Fgf21 regulation in a …

Eliminating senescent cells can promote pulmonary hypertension development and progression

…, D Beaulieu, E Marcos, R Pierre, M Do Cruzeiro… - Circulation, 2023 - Am Heart Assoc
Background: Senescent cells (SCs) are involved in proliferative disorders, but their role in
pulmonary hypertension remains undefined. We investigated SCs in patients with pulmonary …

[HTML][HTML] Sperm SPACA6 protein is required for mammalian Sperm-Egg Adhesion/Fusion

…, E Dybal, M Homps-Legrand, M Do Cruzeiro… - Scientific Reports, 2020 - nature.com
Three genes are known to be essential for gamete adhesion/fusion (Cd9, Izumo1 and Juno).
Here, we confirmed that Spaca6 null males are infertile and showed that their sperm …

[HTML][HTML] A fast Myosin super enhancer dictates muscle fiber phenotype through competitive interactions with Myosin genes

…, M Wurmser, R Pierre, F Langa, M Do Cruzeiro… - Nature …, 2022 - nature.com
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 …

[HTML][HTML] Mutation affecting the conserved acidic WNK1 motif causes inherited hyperkalemic hyperchloremic acidosis

…, T Migeon, R Coleman, M Do Cruzeiro… - The Journal of …, 2020 - Am Soc Clin Investig
Gain-of-function mutations in with no lysine (K) 1 (WNK1) and WNK4 genes are responsible
for familial hyperkalemic hypertension (FHHt), a rare, inherited disorder characterized by …

Driving Role of Interleukin‐2–Related Regulatory CD4+ T Cell Deficiency in the Development of Lung Fibrosis and Vascular Remodeling in a Mouse Model of …

…, V Gonzalez, R Pierre, M Do Cruzeiro… - Arthritis & …, 2022 - Wiley Online Library
Objective Systemic sclerosis (SSc) is a debilitating autoimmune disease characterized by
severe lung outcomes resulting in reduced life expectancy. Fra‐2–transgenic mice offer the …

[PDF][PDF] Mutations in TTC29, encoding an evolutionarily conserved axonemal protein, result in asthenozoospermia and male infertility

…, A Daneshipour, E El Khouri, M Do Cruzeiro… - The American Journal of …, 2019 - cell.com
In humans, structural or functional defects of the sperm flagellum induce asthenozoospermia,
which accounts for the main sperm defect encountered in infertile men. Herein we focused …

[HTML][HTML] The orphan GPR50 receptor promotes constitutive TGFβ receptor signaling and protects against cancer development

…, A Karamitri, JL Guillaume, M Do Cruzeiro… - Nature …, 2018 - nature.com
Transforming growth factor-β (TGFβ) signaling is initiated by the type I, II TGFβ receptor (TβRI/TβRII)
complex. Here we report the formation of an alternative complex between TβRI and …