The DNA-binding protein TRF2 is essential for telomere protection and chromosome stability in mammals. We show here that TRF2 expression is activated by the Wnt/beta-catenin signalling pathway in...
EMBO Rep. - issue: 4 - volume: 14 - pages: 356-363.

To evaluate the analytical performance of a new capillary electrophoresis instrument, the Capillarys 2 Flex piercing (Sebia, France), allowing the separation and quantitative estimation of the...
Int. J. Lab. Hematol. - issue: 2 - volume: 35 - pages: 217-221.

HDAC inhibitors (HDACi) exert beneficial effects in mdx mice, by promoting endogenous regeneration; however, the cellular determinants of HDACi activity on dystrophic muscles have not been determined....
EMBO Mol Med - issue: 4 - volume: 5 - pages: 626-639.

CONTEXT: Germline mutations in the aryl hydrocarbon receptor interacting protein gene (AIP) have been identified in young patients (age ≤30 years old) with sporadic pituitary macroadenomas. Otherwise,...
Eur. J. Endocrinol. - issue: 4 - volume: 168 - pages: 533-541.

The cardiac valves are targets of both congenital and acquired diseases. The formation of valves during embryogenesis (i.e., valvulogenesis) originates from endocardial cells lining the myocardium....
Biochim Biophys Acta - issue: 4 - volume: 1833 - pages: 917-922.

Flying insects keep their visual system horizontally aligned, suggesting that gaze stabilization is a crucial first step in flight control. Unlike flies, hymenopteran insects such as bees and wasps do...
J. Exp. Biol. - issue: Pt 7 - volume: 216 - pages: 1280-1291.

Flying insects keep their visual system horizontally aligned, suggesting that gaze stabilization is a crucial first step in flight control. Unlike flies, hymenopteran insects such as bees and wasps do...
J. Exp. Biol. - issue: Pt 7 - volume: 216 - pages: 1280-1291.

The DNA-binding protein TRF2 is essential for telomere protection and chromosome stability in mammals. We show here that TRF2 expression is activated by the Wnt/β-catenin signalling pathway in human...
EMBO Rep. - issue: 4 - volume: 14 - pages: 356-363.

Dysferlin is proposed as a key mediator of calcium-dependent muscle membrane repair, although its precise role has remained elusive. Dysferlin interacts with a new membrane repair protein, mitsugumin...
J. Neurosci. - issue: 12 - volume: 33 - pages: 5085-5094.

Muscular dystrophies are a heterogeneous group of inherited disorders that share similar clinical features and dystrophic changes on muscle biopsy. An improved understanding of their molecular bases...
Lancet - issue: 9869 - volume: 381 - pages: 845-860.

Velocardiofacial and DiGeorge syndromes, also known as 22q11.2 deletion syndrome (22q11DS), are congenital-anomaly disorders caused by a de novo hemizygous 22q11.2 deletion mediated by meiotic...
Am. J. Hum. Genet. - issue: 3 - volume: 92 - pages: 439-447.

We engineered specific microfluidic devices based on the pervaporation of water through a PDMS membrane, to formulate continuous and steady concentration gradients of a binary aqueous molecular...
Lab Chip - issue: 5 - volume: 13 - pages: 910-919.

We engineered specific microfluidic devices based on the pervaporation of water through a PDMS membrane, to formulate continuous and steady concentration gradients of a binary aqueous molecular...
Lab Chip - issue: 5 - volume: 13 - pages: 910-919.

We report a 2.3-year-old female patient with global developmental delay, infantile spasms, hypotonia, microcephaly, flat face, full cheeks, macroglossia, highly arched palate, retro-gnathia, narrow...
Mol Syndromol - issue: 3 - volume: 4 - pages: 136-142.

We report a 2.3-year-old female patient with global developmental delay, infantile spasms, hypotonia, microcephaly, flat face, full cheeks, macroglossia, highly arched palate, retro-gnathia, narrow...
Mol Syndromol - issue: 3 - volume: 4 - pages: 136-142.

BACKGROUND: The complexity of the skeletal muscle and the identification of numerous human disease-causing mutations in its constitutive proteins make it an interesting tissue for proteomic studies...
Skelet Muscle - issue: 1 - volume: 3 - pages: 3.

Functional elucidation of causal genetic variants and elements requires precise genome editing technologies. The type II prokaryotic CRISPR (clustered regularly interspaced short palindromic...
Science - issue: 6121 - volume: 339 - pages: 819-823.

BACKGROUND: The complexity of the skeletal muscle and the identification of numerous human disease-causing mutations in its constitutive proteins make it an interesting tissue for proteomic studies...
Skelet Muscle - issue: 1 - volume: 3 - pages: 3.

Tubular aggregates are regular arrays of membrane tubules accumulating in muscle with age. They are found as secondary features in several muscle disorders, including alcohol- and drug-induced...
Am. J. Hum. Genet. - issue: 2 - volume: 92 - pages: 271-278.

Tubular aggregates are regular arrays of membrane tubules accumulating in muscle with age. They are found as secondary features in several muscle disorders, including alcohol- and drug-induced...
Am. J. Hum. Genet. - issue: 2 - volume: 92 - pages: 271-278.