MMG PUBLICATIONS

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Results: 2253  publications found.

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.


Gentil, BJ.  et al. 2001

The giant protein AHNAK is a specific target for the calcium- and zinc-binding S100B protein: potential implications for Ca2+ homeostasis regulation by S100B

Transformation of rat embryo fibroblast clone 6 cells by ras and temperature-sensitive p53val(135) is reverted by ectopic expression of the calcium- and zinc-binding protein S100B. In an attempt to...
J. Biol. Chem. - issue: 26 - volume: 276 - pages: 23253-23261.


Magdinier, F.  et al. 2001

Selective association of the methyl-CpG binding protein MBD2 with the silent p14/p16 locus in human neoplasia

DNA methylation of tumor suppressor genes is a common feature of human cancer. The cyclin-dependent kinase inhibitor gene p16/Ink4A is hypermethylated in a wide range of malignant tissues and the...
Proc. Natl. Acad. Sci. U.S.A. - issue: 9 - volume: 98 - pages: 4990-4995.


Etchevers, HC.  et al. 2001

The cephalic neural crest provides pericytes and smooth muscle cells to all blood vessels of the face and forebrain

Most connective tissues in the head develop from neural crest cells (NCCs), an embryonic cell population present only in vertebrates. We show that NCC-derived pericytes and smooth muscle cells are...
Development - issue: 7 - volume: 128 - pages: 1059-1068.


Briault, S.  et al. 2000

Mapping of X chromosome inversion breakpoints [inv(X)(q11q28)] associated with FG syndrome: a second FG locus [FGS2]?

FG syndrome is an X-linked condition comprising mental retardation, congenital hypotonia, macrocephaly, distinctive facial changes, and constipation or anal malformations. In a linkage analysis, we...
Am. J. Med. Genet. - issue: 2 - volume: 95 - pages: 178-181.


Villard, L.  et al. 2000

Two affected boys in a Rett syndrome family: clinical and molecular findings

BACKGROUND: The authors report a family in which two boys had severe neonatal encephalopathy of unknown origin. They both presented with the same condition and died of severe apnea before they were 1...
Neurology - issue: 8 - volume: 55 - pages: 1188-1193.


Lossi, AM.  et al. 2000

Exclusion of nine candidate genes for their involvement in X-linked FG syndrome (FGS1) in three families

Am. J. Med. Genet. - issue: 5 - volume: 94 - pages: 386-388.


Laugier-Anfossi, F.  et al. 2000

Molecular characterization of a new human T-box gene (TBX22) located in xq21.1 encoding a protein containing a truncated T-domain

We are conducting a systematic transcriptional mapping of the Xq12-q21 region of the human X chromosome in order to identify new genes potentially involved in X-linked mental retardation phenotypes....
Gene - issue: 2 - volume: 255 - pages: 289-296.


Magdinier, F.  et al. 2000

Regional methylation of the 5' end CpG island of BRCA1 is associated with reduced gene expression in human somatic cells

In mammalians, demethylation of specific promoter regions often correlates with gene activation; inversely, dense methylation of CpG islands leads to gene silencing, probably mediated by methyl-CpG...
FASEB J. - issue: 11 - volume: 14 - pages: 1585-1594.


Zaffran, S.  et al. 2000

The NK-2 homeobox gene scarecrow (scro) is expressed in pharynx, ventral nerve cord and brain of Drosophila embryos

Members of the NK homeobox family have been widely conserved during evolution. Here we describe the sequence and expression of a novel Drosophila NK-2 homeobox gene, named scarecrow (scro), which...
Mech. Dev. - issue: 1-2 - volume: 94 - pages: 237-241.


Bienvenu, T.  et al. 2000

MECP2 mutations account for most cases of typical forms of Rett syndrome

Rett syndrome (RTT) is a severe progressive neurological disorder that affects almost exclusively females, with an estimated prevalence of approximately one in 10 000-15 000 female births. Most cases...
Hum. Mol. Genet. - issue: 9 - volume: 9 - pages: 1377-1384.


Villard, L.  et al. 2000

Identification of a mutation in the XNP/ATR-X gene in a family reported as Smith-Fineman-Myers syndrome

Am. J. Med. Genet. - issue: 1 - volume: 91 - pages: 83-85.


Villard, L.  et al. 2000

Linkage of X-linked myopathy with excessive autophagy (XMEA) to Xq28

X-linked myopathy with excessive autophagy (XMEA, MIM 310440) is a rare inherited mild myopathy. We have used 32 polymorphic markers spanning the entire X chromosome to exclude most of the chromosome...
Eur. J. Hum. Genet. - issue: 2 - volume: 8 - pages: 125-129.