Syndromic diarrhea/Tricho-hepato-enteric syndrome (SD/THE) is a rare and severe bowel disorder caused by mutation in SKIV2L or in TTC37, 2 genes encoding subunits of the putative human SKI complex....
Orphanet J Rare Dis - issue: - volume: 8 - pages: 5.

Syndromic diarrhea/Tricho-hepato-enteric syndrome (SD/THE) is a rare and severe bowel disorder caused by mutation in SKIV2L or in TTC37, 2 genes encoding subunits of the putative human SKI complex....
Orphanet J Rare Dis - issue: - volume: 8 - pages: 5.

Several mechanisms mediate the regenerative and reparative capacity of stem cells, including cytokine secretion; therefore these cells can act as delivery systems of therapeutic molecules. Here we...
Int J Pharm - issue: 1 - volume: 440 - pages: 72-82.

Several mechanisms mediate the regenerative and reparative capacity of stem cells, including cytokine secretion; therefore these cells can act as delivery systems of therapeutic molecules. Here we...
Int. J. Pharm. - issue: 1 - volume: 440 - pages: 72-82.

WOS:000312492500001
Eur. J. Hum. Genet. - issue: 1 - volume: 21 - pages: .

Recently a mutation in the SNX10 gene that belongs to the sorting nexin family was identified as a cause of a new subset of human autosomal recessive osteopetrosis. Here, we identified a novel...
Eur J Med Genet - issue: 1 - volume: 56 - pages: 32-35.

Recently a mutation in the SNX10 gene that belongs to the sorting nexin family was identified as a cause of a new subset of human autosomal recessive osteopetrosis. Here, we identified a novel...
Eur J Med Genet - issue: 1 - volume: 56 - pages: 32-35.

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.

Mouse embryonic stem cell lines were derived three decades ago and allow the process of transgenesis and in turn the generation of transgenic mice. In the past and still nowadays, these mice as well...
Biol Aujourdhui - issue: 1 - volume: 206 - pages: 25-29.

Mutations in the dysferlin gene are the cause of Limb-girdle Muscular Dystrophy type 2B and Miyoshi Myopathy. The dysferlin protein has been implicated in sarcolemmal resealing, leading to the idea...
PLoS ONE - issue: 5 - volume: 7 - pages: e38036.

Since age-dependent deposition of Aβ-amyloid has been reported in the Microcebusmurinus, we posited that this animal could as well be a model of age-related synucleinopathy. We characterized the...
Sci Rep - issue: - volume: 2 - pages: 910.

Mutations in the dysferlin gene are the cause of Limb-girdle Muscular Dystrophy type 2B and Miyoshi Myopathy. The dysferlin protein has been implicated in sarcolemmal resealing, leading to the idea...
PLoS ONE - issue: 5 - volume: 7 - pages: e38036.

BACKGROUND: The ANRS EP45 "Aging" study investigates the cellular mechanisms involved in the accelerated aging of HIV-1 infected and treated patients. The present report focuses on lamin A processing,...
PLoS ONE - issue: 12 - volume: 7 - pages: e53035.

Acquired alpha-thalassemia (alpha-thal) myelodysplastic syndrome (ATMDS) is a rare acquired syndrome characterized by a somatic point mutation in the ATRX gene in patients with chronic myeloid...
Hemoglobin - issue: 6 - volume: 36 - pages: 581-585.

BACKGROUND: The ANRS EP45 "Aging" study investigates the cellular mechanisms involved in the accelerated aging of HIV-1 infected and treated patients. The present report focuses on lamin A processing,...
PLoS ONE - issue: 12 - volume: 7 - pages: e53035.

BACKGROUND: The ANRS EP45 "Aging" study investigates the cellular mechanisms involved in the accelerated aging of HIV-1 infected and treated patients. The data reported focus on mitochondria,...
PLoS ONE - issue: 7 - volume: 7 - pages: e41129.

BACKGROUND: The ANRS EP45 "Aging" study investigates the cellular mechanisms involved in the accelerated aging of HIV-1 infected and treated patients. The data reported focus on mitochondria,...
PLoS ONE - issue: 7 - volume: 7 - pages: e41129.

Mutations in the dysferlin gene are the cause of Limb-girdle Muscular Dystrophy type 2B and Miyoshi Myopathy. The dysferlin protein has been implicated in sarcolemmal resealing, leading to the idea...
PLoS ONE - issue: 5 - volume: 7 - pages: e38036.

Mutations in the dysferlin gene are the cause of Limb-girdle Muscular Dystrophy type 2B and Miyoshi Myopathy. The dysferlin protein has been implicated in sarcolemmal resealing, leading to the idea...
PLoS ONE - issue: 5 - volume: 7 - pages: e38036.

Since age-dependent deposition of Aβ-amyloid has been reported in the Microcebusmurinus, we posited that this animal could as well be a model of age-related synucleinopathy. We characterized the...
Sci Rep - issue: - volume: 2 - pages: 910.