PUBLICATIONS MMG

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Karmous-Benailly, H.  et al. 2005

Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome

Bardet-Biedl syndrome (BBS) is a multisystemic disorder characterized by postaxial polydactyly, progressive retinal dystrophy, obesity, hypogonadism, renal dysfunction, and learning difficulty. Other...
Am. J. Hum. Genet. - issue: 3 - volume: 76 - pages: 493-504.


Stockholm, D.  et al. 2005

Imaging calpain protease activity by multiphoton FRET in living mice

Constant efforts are ongoing for the development of new imaging methods that allow the investigation of molecular processes in vivo. Protein-protein interactions, enzymatic activities and...
J. Mol. Biol. - issue: 1 - volume: 346 - pages: 215-222.


Stockholm, D.  et al. 2005

Imaging calpain protease activity by multiphoton FRET in living mice

Constant efforts are ongoing for the development of new imaging methods that allow the investigation of molecular processes in vivo. Protein-protein interactions, enzymatic activities and...
J. Mol. Biol. - issue: 1 - volume: 346 - pages: 215-222.


Cenacchi, G.  et al. 2005

Ultrastructural changes in dysferlinopathy support defective membrane repair mechanism

BACKGROUND: The dysferlin gene has recently been shown to be involved in limb girdle muscular dystrophy type 2B and its allelic disease, Miyoshi myopathy, both of which are characterised by an active...
J. Clin. Pathol. - issue: 2 - volume: 58 - pages: 190-195.


Trueba, SS.  et al. 2005

PAX8, TITF1, and FOXE1 gene expression patterns during human development: new insights into human thyroid development and thyroid dysgenesis-associated malformations

Thyroid dysgenesis (TD) is responsible for most cases of congenital hypothyroidism, a condition that affects about one in 4000 newborns. Mutations in PAX8, TITF1, or FOXE1 may account for congenital...
J. Clin. Endocrinol. Metab. - issue: 1 - volume: 90 - pages: 455-462.


Felsenfeld, G.  et al. 2004

Chromatin boundaries and chromatin domains

Cold Spring Harb. Symp. Quant. Biol. - issue: - volume: 69 - pages: 245-250.


Lower, KM.  et al. 2004

Partial androgen insensitivity syndrome and t(X;5): are there upstream regulatory elements of the androgen receptor gene?

BACKGROUND/AIMS: Two half-brothers with similar malformed genitals, who both inherited a maternally derived t(X;5)(q13;p15) translocation, have a phenotype consistent with partial androgen sensitivity...
Horm. Res. - issue: 4 - volume: 62 - pages: 208-214.


Cantagrel, V.  et al. 2004

Disruption of a new X linked gene highly expressed in brain in a family with two mentally retarded males

BACKGROUND: Mental retardation (MR) affects 2-3% of the human population and some of these cases are genetically determined. Although several genes responsible for MR have been identified, many cases...
J. Med. Genet. - issue: 10 - volume: 41 - pages: 736-742.


Zaffran, S.  et al. 2004

Right ventricular myocardium derives from the anterior heart field

The mammalian heart develops from a primary heart tube, which is formed by fusion of bilateral cardiac territories in which myocardial and endothelial cells have already begun to differentiate from...
Circ. Res. - issue: 3 - volume: 95 - pages: 261-268.


Magdinier, F.  et al. 2004

Both CTCF-dependent and -independent insulators are found between the mouse T cell receptor alpha and Dad1 genes

The T cell rearrangement of the T cell receptor (TCR) genes TCRalpha and delta is specifically regulated by a complex interplay between enhancer elements and chromatin structure. The alpha enhancer is...
J. Biol. Chem. - issue: 24 - volume: 279 - pages: 25381-25389.


Fourel, G.  et al. 2004

Insulator dynamics and the setting of chromatin domains

The early discovery of cis-regulatory elements able to promote transcription of genes over large distances led to the postulate that elements, termed insulators, should also exist that would limit the...
Bioessays - issue: 5 - volume: 26 - pages: 523-532.


Pinson, L.  et al. 2004

Embryonic expression of the human MID1 gene and its mutations in Opitz syndrome

J. Med. Genet. - issue: 5 - volume: 41 - pages: 381-386.


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.


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.