Myostatin is a negative regulator of muscle mass whose inhibition has been proposed as a therapeutic strategy for muscle-wasting conditions. Indeed, blocking myostatin action through different...
Gene Ther. - issue: 9 - volume: 14 - pages: 733-740.

Myostatin is a negative regulator of muscle mass whose inhibition has been proposed as a therapeutic strategy for muscle-wasting conditions. Indeed, blocking myostatin action through different...
Gene Ther. - issue: 9 - volume: 14 - pages: 733-740.

Significant advances in the understanding of the molecular and genetic basis of congenital heart disease have emerged from gene inactivation studies in mice and from human genetic investigations. The...
Arch Mal Coeur Vaiss - issue: 5 - volume: 100 - pages: 484-489.

Circ Res - issue: 8 - volume: 100 - pages: 1109-1111.

Neural progenitor proliferation and migration influence brain size during neurogenesis. We report an autosomal recessive microcephaly syndrome cosegregating with a homozygous balanced translocation...
Nat. Genet. - issue: 4 - volume: 39 - pages: 454-456.

Polymicrogyria (PMG) is a common malformation of the human cerebral cortex for which both acquired and genetic causes are known. Although genetic heterogeneity is documented, only one gene is...
Hum. Mutat. - issue: 4 - volume: 28 - pages: 356-364.

Neural progenitor proliferation and migration influence brain size during neurogenesis. We report an autosomal recessive microcephaly syndrome cosegregating with a homozygous balanced translocation...
Nat. Genet. - issue: 4 - volume: 39 - pages: 454-456.

Rett syndrome (RS) is a severe X-linked neurological disorder in which most patients have mutations in the methyl-CpG binding protein2 (MECP2) gene. No effective treatment exists. We previously showed...
Eur. J. Neurosci. - issue: 7 - volume: 25 - pages: 1915-1922.

During heart development the second heart field (SHF) provides progenitor cells for most cardiomyocytes and expresses the homeodomain factor Nkx2-5. We now show that feedback repression of Bmp2/Smad1...
Cell - issue: 5 - volume: 128 - pages: 947-959.

Mutations in dysferlin cause limb girdle muscular dystrophy 2B, Miyoshi myopathy and distal anterior compartment myopathy. Dysferlin is proposed to play a role in muscle membrane repair. To gain...
FASEB J. - issue: 3 - volume: 21 - pages: 732-742.

Limb-girdle muscular dystrophy type 2A (LGMD2A) is an autosomal recessive muscular disorder caused by mutations in the gene coding for calpain 3, a calcium-dependent protease. We developed an in vitro...
Neuromuscul. Disord. - issue: 2 - volume: 17 - pages: 148-156.

We describe two fetal cases of microphthalmia/anophthalmia, pulmonary agenesis, and diaphragmatic defect. This rare association is known as Matthew-Wood syndrome (MWS; MIM 601186) or by the acronym...
Am. J. Med. Genet. A - issue: 3 - volume: 143A - pages: 219-228.

Limb-girdle muscular dystrophy type 2A (LGMD2A) is an autosomal recessive muscular disorder caused by mutations in the gene coding for calpain 3, a calcium-dependent protease. We developed an in vitro...
Neuromusc. Disord. - issue: 2 - volume: 17 - pages: 148-156.

We describe two fetal cases of microphthalmia/anophthalmia, pulmonary agenesis, and diaphragmatic defect. This rare association is known as Matthew-Wood syndrome (MWS; MIM 601186) or by the acronym...
Am. J. Med. Genet. A - issue: 3 - volume: 143A - pages: 219-228.

alpha-Sarcoglycanopathy (limb-girdle muscular dystrophy type 2D, LGMD2D) is a recessive muscular disorder caused by deficiency in alpha-sarcoglycan, a transmembrane protein part of the...
Mol. Ther. - issue: 1 - volume: 15 - pages: 53-61.

Oct-3/4 encoded by Pou5f1 has been longwise recognised as a gatekeeper for embryonic stem (ES) cell pluripotency. Recently, it was suggested that Oct-3/4 one of the earliest transcription factor of...
Cell Cycle - issue: 1 - volume: 6 - pages: 8-10.

alpha-Sarcoglycanopathy (limb-girdle muscular dystrophy type 2D, LGMD2D) is a recessive muscular disorder caused by deficiency in alpha-sarcoglycan, a transmembrane protein part of the...
Mol. Ther. - issue: 1 - volume: 15 - pages: 53-61.

Two autosomal recessive muscle diseases, limb girdle muscular dystrophy type 2B (LGMD2B) and Miyoshi myopathy (MM), are caused by mutations in the dysferlin gene. These mutations result in poor...
Traffic - issue: 1 - volume: 8 - pages: 77-88.

Antagonists of beta-adrenergic receptors (beta-ARs) have become a main therapeutic regimen for the treatment of heart failure even though the mechanisms of their beneficial effects are still poorly...
J Clin Invest - issue: 1 - volume: 117 - pages: 229-235.

Adv. Exp. Med. Biol. - issue: - volume: 589 - pages: 213-234.