PUBLICATIONS of MMG

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Résultats : 4196  publications trouvées.

Bansal, D.  et al. 2004

Dysferlin and the plasma membrane repair in muscular dystrophy

Muscular dystrophy covers a group of genetically determined disorders that cause progressive weakness and wasting of the skeletal muscles. Dysferlin was identified as a gene mutated in limb-girdle...
Trends Cell Biol. - issue: 4 - volume: 14 - pages: 206-213.

Benaud, C.  et al. 2004

AHNAK interaction with the annexin 2/S100A10 complex regulates cell membrane cytoarchitecture

Remodelling of the plasma membrane cytoarchitecture is crucial for the regulation of epithelial cell adhesion and permeability. In Madin-Darby canine kidney cells, the protein AHNAK relocates from the...
J. Cell Biol. - issue: 1 - volume: 164 - pages: 133-144.

Zaffran, S.  et al. 2003

[The mouse as a model for heart morphogenesis in mammals: the origin of myocytes and studies with cardiac explants]

The heart is one of the first organs to form during embryogenesis since its circulatory function is critical from early stages for embryo survival. In man, morphological events are affected by...
J. Soc. Biol. - issue: 2 - volume: 197 - pages: 187-194.

Kelly, RG.  et al. 2003

Cell history determines the maintenance of transcriptional differences between left and right ventricular cardiomyocytes in the developing mouse heart

The molecular mechanisms that establish and maintain transcriptional differences between cardiomyocytes in the left and right ventricular chambers are unkown. We have previously analysed a myosin...
J. Cell. Sci. - issue: Pt 24 - volume: 116 - pages: 5005-5013.

Taveau, M.  et al. 2003

Calpain 3 is activated through autolysis within the active site and lyses sarcomeric and sarcolemmal components

Calpain 3 (Capn3) is known as the skeletal muscle-specific member of the calpains, a family of intracellular nonlysosomal cysteine proteases. This enigmatic protease has many unique features among the...
Mol. Cell. Biol. - issue: 24 - volume: 23 - pages: 9127-9135.

Taveau, M.  et al. 2003

Calpain 3 is activated through autolysis within the active site and lyses sarcomeric and sarcolemmal components

Calpain 3 (Capn3) is known as the skeletal muscle-specific member of the calpains, a family of intracellular nonlysosomal cysteine proteases. This enigmatic protease has many unique features among the...
Mol. Cell. Biol. - issue: 24 - volume: 23 - pages: 9127-9135.

Philip, N.  et al. 2003

Mutations in the oligophrenin-1 gene (OPHN1) cause X linked congenital cerebellar hypoplasia

J. Med. Genet. - issue: 6 - volume: 40 - pages: 441-446.

Philip, N.  et al. 2003

Mutations in the oligophrenin-1 gene (OPHN1) cause X linked congenital cerebellar hypoplasia.

J Med Genet - issue: 6 - volume: 40 - pages: 441-446.

Bansal, D.  et al. 2003

Defective membrane repair in dysferlin-deficient muscular dystrophy

Muscular dystrophy includes a diverse group of inherited muscle diseases characterized by wasting and weakness of skeletal muscle. Mutations in dysferlin are linked to two clinically distinct muscle...
Nature - issue: 6936 - volume: 423 - pages: 168-172.

Amiel, J.  et al. 2003

Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome

Congenital central hypoventilation syndrome (CCHS or Ondine's curse; OMIM 209880) is a life-threatening disorder involving an impaired ventilatory response to hypercarbia and hypoxemia. This core...
Nat. Genet. - issue: 4 - volume: 33 - pages: 459-461.

Amiel, J.  et al. 2003

Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome

Congenital central hypoventilation syndrome (CCHS or Ondine's curse; OMIM 209880) is a life-threatening disorder involving an impaired ventilatory response to hypercarbia and hypoxemia. This core...
Nat. Genet. - issue: 4 - volume: 33 - pages: 459-461.

Etchevers, HC.  et al. 2003

Early expression of hypoxia-inducible factor 1alpha in the chicken embryo

Hypoxia is known to regulate angiogenesis and tissue growth by the induction of the alpha subunit of the heterodimeric transcription factor, hypoxia-inducible factor 1. The expression pattern of...
Gene Expr. Patterns - issue: 1 - volume: 3 - pages: 49-52.

Etchevers, HC.  et al. 2003

Early expression of hypoxia-inducible factor 1alpha in the chicken embryo

Hypoxia is known to regulate angiogenesis and tissue growth by the induction of the alpha subunit of the heterodimeric transcription factor, hypoxia-inducible factor 1. The expression pattern of...
Gene Expr. Patterns - issue: 1 - volume: 3 - pages: 49-52.

Vorsanova, SG.  et al. 2002

[Genotype-phenotype correlations in Rett syndrome: the study of Russian cohort of patients]

Rett syndrome (RTT) is a severe neurodevelopmental disorder caused by mutations in methyl-CpG-binding protein 2 gene (MECP2). We carried out a mutations analysis in Russian cohort of patients with...
Zh Nevrol Psikhiatr Im S S Korsakova - issue: 10 - volume: 102 - pages: 23-29.

Bienvenu, T.  et al. 2002

Spectrum of MECP2 mutations in Rett syndrome

Mutations in the MECP2 (Methyl-CpG-binding protein) gene recently have been reported to cause Rett syndrome (RTT), an X-linked progressive encephalopathy. We have collected the results of MECP2...
Genet. Test. - issue: 1 - volume: 6 - pages: 1-6.

Vorsanova, SG.  et al. 2002

[Genotype-phenotype correlations in Rett syndrome: the study of Russian cohort of patients].

Rett syndrome (RTT) is a severe neurodevelopmental disorder caused by mutations in methyl-CpG-binding protein 2 gene (MECP2). We carried out a mutations analysis in Russian cohort of patients with...
Zh Nevrol Psikhiatr Im S S Korsakova - issue: 10 - volume: 102 - pages: 23-29.

Bienvenu, T.  et al. 2002

Spectrum of MECP2 mutations in Rett syndrome.

Mutations in the MECP2 (Methyl-CpG-binding protein) gene recently have been reported to cause Rett syndrome (RTT), an X-linked progressive encephalopathy. We have collected the results of MECP2...
Genet Test - issue: 1 - volume: 6 - pages: 1-6.

Zaffran, S.  et al. 2002

Cardiogenesis in the Drosophila model: control mechanisms during early induction and diversification of cardiac progenitors

The dorsal vessel of Drosophila displays developmental, functional, and morphological similarities to the primitive linear heart tube of early vertebrate embryos. Because these similarities extend to...
Cold Spring Harb. Symp. Quant. Biol. - issue: - volume: 67 - pages: 1-12.

Fanin, M.  et al. 2002

Muscle pathology in dysferlin deficiency

Dysferlin deficiency is being increasingly recognized in limb-girdle dystrophy and distal myopathy but its role in the development of muscle pathology is still poorly understood. For this purpose, 26...
Neuropathol. Appl. Neurobiol. - issue: 6 - volume: 28 - pages: 461-470.

Braybrook, C.  et al. 2002

Craniofacial expression of human and murine TBX22 correlates with the cleft palate and ankyloglossia phenotype observed in CPX patients

Cleft palate with ankyloglossia (CPX; MIM 303400) is inherited as a Mendelian, semidominant X-linked disorder and has been described in several large families from different ethnic origins. It is a...
Hum. Mol. Genet. - issue: 22 - volume: 11 - pages: 2793-2804.