MMG PUBLICATIONS

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Results: 4196  publications found.

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.

Etchevers, HC.  et al. 2002

Morphogenesis of the branchial vascular sector

The branchial and dorsal cephalic vascular sectors correspond to the blood vessels contained within evolutionarily recent and ancestral parts of the head, respectively. Recent work demonstrates that...
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Etchevers, HC.  et al. 2002

Morphogenesis of the branchial vascular sector

The branchial and dorsal cephalic vascular sectors correspond to the blood vessels contained within evolutionarily recent and ancestral parts of the head, respectively. Recent work demonstrates that...
Trends Cardiovasc. Med. - issue: 7 - volume: 12 - pages: 299-304.

Zaffran, S.  et al. 2002

Early signals in cardiac development

The heart is the first organ to form during embryogenesis and its circulatory function is critical from early on for the viability of the mammalian embryo. Developmental abnormalities of the heart...
Circ. Res. - issue: 6 - volume: 91 - pages: 457-469.

Magdinier, F.  et al. 2002

Epigenetic marks at BRCA1 and p53 coding sequences in early human embryogenesis

In the vertebrate genome, methylation of deoxycytosine residues of CpGs dinucleotide has been associated with transcriptional silencing of genes, parental imprinting, X-inactivation and chromatin...
Mol. Hum. Reprod. - issue: 7 - volume: 8 - pages: 630-635.

Chartier, A.  et al. 2002

Pericardin, a Drosophila type IV collagen-like protein is involved in the morphogenesis and maintenance of the heart epithelium during dorsal ectoderm closure

The steps that lead to the formation of a single primitive heart tube are highly conserved in vertebrate and invertebrate embryos. Concerted migration of the two lateral cardiogenic regions of the...
Development - issue: 13 - volume: 129 - pages: 3241-3253.

Zaffran, S.  et al. 2002

The beta 3 tubulin gene is a direct target of bagpipe and biniou in the visceral mesoderm of Drosophila

Previous studies have identified the NK homeobox gene bagpipe and the FoxF fork head domain gene biniou as essential regulators of visceral mesoderm development in Drosophila. Here we present...
Mech. Dev. - issue: 1-2 - volume: 114 - pages: 85-93.

Billard, L.  et al. 2002

MeCP2 and MBD2 expression during normal and pathological growth of the human mammary gland

During the last years, a direct link between DNA methylation and repressive chromatin structure has been established. This structural modification is mediated by histone deacetylases targeted to the...
Oncogene - issue: 17 - volume: 21 - pages: 2704-2712.

Villard, L.  et al. 2002

Alpha-thalassemia/mental retardation syndrome, X-Linked (ATR-X, MIM #301040, ATR-X/XNP/XH2 gene MIM #300032)

Eur. J. Hum. Genet. - issue: 4 - volume: 10 - pages: 223-225.

Villard, L.  et al. 2002

A locus for bilateral perisylvian polymicrogyria maps to Xq28

Polymicrogyria (PMG) is one of a large group of human cortical malformations that collectively account for a significant percentage of patients with epilepsy, congenital neurological deficits, and...
Am. J. Hum. Genet. - issue: 4 - volume: 70 - pages: 1003-1008.

Villard, L.  et al. 2002

Alpha-thalassemia/mental retardation syndrome, X-Linked (ATR-X, MIM #301040, ATR-X/XNP/XH2 gene MIM #300032).

Eur J Hum Genet - issue: 4 - volume: 10 - pages: 223-225.

Bachelier, R.  et al. 2002

Retroviral transduction of splice variant Brca1-Delta11 or mutant Brca1-W1777Stop causes mouse epithelial mammary atypical duct hyperplasia

We have investigated the effects of the expression of wild-type and mutant Brca1 alleles on the murine mammary gland morphogenesis and carcinogenesis. Primary cultures of mammary cells from...
Virchows Arch. - issue: 3 - volume: 440 - pages: 261-266.

Lossi, AM.  et al. 2002

Abnormal expression of the KLF8 (ZNF741) gene in a female patient with an X;autosome translocation t(X;21)(p11.2;q22.3) and non-syndromic mental retardation

Non-syndromic X linked mental retardation (MRX) is a heterogeneous group of conditions in which all patients have mental retardation as the only constant phenotypic feature. We have identified a...
J. Med. Genet. - issue: 2 - volume: 39 - pages: 113-117.

Moncla, A.  et al. 2002

Polymorphisms in the C-terminal domain of MECP2 in mentally handicapped boys: implications for genetic counselling

Numerous recent reports have proposed that mutations in the C-terminal domain of the MECP2 gene could be a frequent cause of mental retardation in males. We have identified two mutations in this...
Eur. J. Hum. Genet. - issue: 1 - volume: 10 - pages: 86-89.

Gaillard, S.  et al. 2001

Striatin, a calmodulin-dependent scaffolding protein, directly binds caveolin-1

Caveolins are scaffolding proteins able to collect on caveolae a large number of signalling proteins bearing a caveolin-binding motif. The proteins of the striatin family, striatin, SG2NA, and...
FEBS Lett. - issue: 1 - volume: 508 - pages: 49-52.

Gaillard, S.  et al. 2001

Striatin, a calmodulin-dependent scaffolding protein, directly binds caveolin-1

Caveolins are scaffolding proteins able to collect on caveolae a large number of signalling proteins bearing a caveolin-binding motif. The proteins of the striatin family, striatin, SG2NA, and...
FEBS Lett. - issue: 1 - volume: 508 - pages: 49-52.

Zaffran, S.  et al. 2001

biniou (FoxF), a central component in a regulatory network controlling visceral mesoderm development and midgut morphogenesis in Drosophila

The subdivision of the lateral mesoderm into a visceral (splanchnic) and a somatic layer is a crucial event during early mesoderm development in both arthropod and vertebrate embryos. In Drosophila,...
Genes Dev. - issue: 21 - volume: 15 - pages: 2900-2915.

Bartoli, M.  et al. 2001

Interactions of the rapsyn RING-H2 domain with dystroglycan

Rapsyn, a peripheral membrane protein of skeletal muscle, is necessary for the formation of the highly organized structure of the vertebrate neuromuscular junction. For mice lacking rapsyn, there is a...
J. Biol. Chem. - issue: 27 - volume: 276 - pages: 24911-24917.

Bartoli, M.  et al. 2001

Interactions of the rapsyn RING-H2 domain with dystroglycan

Rapsyn, a peripheral membrane protein of skeletal muscle, is necessary for the formation of the highly organized structure of the vertebrate neuromuscular junction. For mice lacking rapsyn, there is a...
J. Biol. Chem. - issue: 27 - volume: 276 - pages: 24911-24917.

Villard, L.  et al. 2001

Segregation of a totally skewed pattern of X chromosome inactivation in four familial cases of Rett syndrome without MECP2 mutation: implications for the disease

BACKGROUND: Rett syndrome is a neurodevelopmental disorder affecting only girls; 99.5% of Rett syndrome cases are sporadic, although several familial cases have been reported. Mutations in the MECP2...
J. Med. Genet. - issue: 7 - volume: 38 - pages: 435-442.