Sarcoglycanopathies (SGP) are a group of autosomal recessive muscle disorders caused by primary mutations in one of the four sarcoglycan genes. The sarcoglycans (alpha-, beta-, gamma-, and...
Hum. Mutat. - issue: 2 - volume: 33 - pages: 429-439.

Sarcoglycanopathies (SGP) are a group of autosomal recessive muscle disorders caused by primary mutations in one of the four sarcoglycan genes. The sarcoglycans (alpha-, beta-, gamma-, and...
Hum. Mutat. - issue: 2 - volume: 33 - pages: 429-439.

The LIM homeodomain gene Islet-1 (ISL1) encodes a transcription factor that has been associated with the multipotency of human cardiac progenitors, and in mice enables the correct deployment of second...
PLoS One - issue: 1 - volume: 7 - pages: e30677.

We report here for the first time the in vitro localization of unlabeled antimalarial drugs with high spatial resolution. This strategy further enhances our understanding of the action mechanisms of...
Chem. Commun. (Camb.) - issue: 6 - volume: 48 - pages: 910-912.

Background-Optimal management, including timing of surgery, remains debated in Marfan syndrome because of a lack of data on aortic risk associated with this disease. Methods and Results-We used our...
Circulation - issue: 2 - volume: 125 - pages: 226-232.

Clin. Genet. - issue: 1 - volume: 81 - pages: 99-101.

Background: Focal dermal hypoplasia (also known as Goltz syndrome) is an X-linked dominant syndrome characterized by patchy hypoplastic skin with soft-tissue, skeletal, dental, and ocular defects that...
Arch. Dermatol. - issue: 1 - volume: 148 - pages: 85-88.

Med Sci (Paris) - issue: 1 - volume: 28 - pages: 44-46.

Clin. Genet. - issue: 1 - volume: 81 - pages: 99-101.

Clin. Genet. - issue: 1 - volume: 81 - pages: 99-101.

Clin. Genet. - issue: 1 - volume: 81 - pages: 99-101.

Clin. Genet. - issue: 1 - volume: 81 - pages: 99-101.

Med Sci (Paris) - issue: 1 - volume: 28 - pages: 44-46.

Duchenne muscular dystrophy is characterized by progressive muscle weakness and early death resulting from dystrophin deficiency. Spontaneous canine muscular disorders are interesting settings to...
J Stem Cells Regen Med - issue: 2 - volume: 7 - pages: 80-86.

A transgenic mouse line harbouring a β-galacdosidase reporter gene controlled by the proximal 2 kb promoter of Hoxa3 was previously generated to investigate the regulatory cues governing Hoxa3...
PLoS ONE - issue: 11 - volume: 6 - pages: e27624.

The characterization of the normal urinary proteome is steadily progressing and represents a major interest in the assessment of clinical urinary biomarkers. To estimate quantitatively the variability...
J Proteomics - issue: 1 - volume: 75 - pages: 70-80.

Charcot-Marie-Tooth disease type 2D (CMT2D) is a dominantly inherited peripheral neuropathy caused by missense mutations in the glycyl-tRNA synthetase gene (GARS). In addition to GARS, mutations in...
PLoS Genet. - issue: 12 - volume: 7 - pages: e1002399.

Excess exogenous retinoic acid (RA) has been well documented to have teratogenic effects in the limb and craniofacial skeleton. Malformations that have been observed in this context include...
Am J Hum Genet - issue: 5 - volume: 89 - pages: 595-606.

BACKGROUND: Investigations into both the pathophysiology and therapeutic targets in muscle dystrophies have been hampered by the limited proliferative capacity of human myoblasts. Isolation of...
Skelet Muscle - issue: - volume: 1 - pages: 34.

p63, a member of the p53 family, is essential for skin morphogenesis and epithelial stem cell maintenance. Here, we report an unexpected role of TAp63 in cardiogenesis. p63 null mice exhibit severe...
Stem Cells - issue: 11 - volume: 29 - pages: 1672-1683.