MMG PUBLICATIONS

Use the tool below to browse our publications by keywords or/and by team or/and by year.

Follow then the link to consult a publication on PUBMED website.



Search publications





Results: 3220  publications found.

Tassone, F.  et al. 1999

Structures, sequence characteristics, and synteny relationships of the transcription factor E4TF1, the splicing factor U2AF35 and the cystathionine beta synthetase genes from Fugu rubripes

A cosmid containing the beta-amyloid precursor protein (APP) from Fugu rubripes has been completely sequenced. In addition to APP, the cosmid contains the E4TF1-60 transcription factor, the U2AF35...
Gene - issue: 2 - volume: 226 - pages: 211-223.

Magdinier, F.  et al. 1998

Down-regulation of BRCA1 in human sporadic breast cancer; analysis of DNA methylation patterns of the putative promoter region

Germ-line alterations of BRCA1 are responsible for about 50% of familial breast cancers. Although its biological function(s) has not yet been fully determined, it has been suggested that it may act as...
Oncogene - issue: 24 - volume: 17 - pages: 3169-3176.

Liu, J.  et al. 1998

Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy

Miyoshi myopathy (MM) is an adult onset, recessive inherited distal muscular dystrophy that we have mapped to human chromosome 2p13. We recently constructed a 3-Mb P1-derived artificial chromosome...
Nat. Genet. - issue: 1 - volume: 20 - pages: 31-36.

Bashir, R.  et al. 1998

A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B

The limb-girdle muscular dystrophies are a genetically heterogeneous group of inherited progressive muscle disorders that affect mainly the proximal musculature, with evidence for at least three...
Nat. Genet. - issue: 1 - volume: 20 - pages: 37-42.

Bartoli, M.  et al. 1998

Interaction of calmodulin with striatin, a WD-repeat protein present in neuronal dendritic spines

Rat striatin, a quantitatively minor protein belonging to the WD-repeat family of proteins, is a Ca2+/calmodulin-binding protein mostly expressed in the striatum and in the motor and olfactory systems...
J. Biol. Chem. - issue: 35 - volume: 273 - pages: 22248-22253.

Bartoli, M.  et al. 1998

Interaction of calmodulin with striatin, a WD-repeat protein present in neuronal dendritic spines

Rat striatin, a quantitatively minor protein belonging to the WD-repeat family of proteins, is a Ca2+/calmodulin-binding protein mostly expressed in the striatum and in the motor and olfactory systems...
J. Biol. Chem. - issue: 35 - volume: 273 - pages: 22248-22253.

Salin, P.  et al. 1998

Distribution of striatin, a newly identified calmodulin-binding protein in the rat brain: an in situ hybridization and immunocytochemical study

Striatin, a 110-kDa protein, is the first member of the tryptophane-aspartate repeat protein family known to bind calmodulin in the presence of Ca2+. We examined the distribution of striatin and its...
J. Comp. Neurol. - issue: 1 - volume: 397 - pages: 41-59.

Salin, P.  et al. 1998

Distribution of striatin, a newly identified calmodulin-binding protein in the rat brain: An in situ hybridization and immunocytochemical study

Striatin, a 110-kDa protein, is the first member of the tryptophane-aspartate repeat protein family known to bind calmodulin in the presence of Ca2+. We examined the distribution of striatin and its...
J. Comp. Neurol. - issue: 1 - volume: 397 - pages: 41-59.

Moqrich, A.  et al. 1998

Cloning of human striatin cDNA (STRN), gene mapping to 2p22-p21, and preferential expression in brain

Rat striatin, a recently discovered calmodulin-binding protein belonging to the WD repeat family, is expressed in neurons, mostly in the striatum and motor and olfactory systems. Striatin is localized...
Genomics - issue: 1 - volume: 51 - pages: 136-139.

Kachidian, P.  et al. 1998

Relationships between striatin-containing neurons and cortical or thalamic afferent fibres in the rat striatum. An ultrastructural study by dual labelling

Striatin, a recently isolated rat brain calmodulin-binding protein belonging to the WD-repeat protein family, is thought to be part of a calcium signal transduction pathway presumably specific to...
Neuroscience - issue: 1 - volume: 85 - pages: 111-122.

Moqrich, A.  et al. 1998

Cloning of human striatin cDNA (STRN), gene mapping to 2p22-p21, and preferential expression in brain

Rat striatin, a recently discovered calmodulin-binding protein belonging to the WD repeat family, is expressed in neurons, mostly in the striatum and motor and olfactory systems. Striatin is localized...
Genomics - issue: 1 - volume: 51 - pages: 136-139.

Kachidian, P.  et al. 1998

Relationships between striatin-containing neurons and cortical or thalamic afferent fibres in the rat striatum. An ultrastructural study by dual labelling

Striatin, a recently isolated rat brain calmodulin-binding protein belonging to the WD-repeat protein family, is thought to be part of a calcium signal transduction pathway presumably specific to...
Neuroscience - issue: 1 - volume: 85 - pages: 111-122.

Cardoso, C.  et al. 1998

Specific interaction between the XNP/ATR-X gene product and the SET domain of the human EZH2 protein

Mutations in the XNP gene result in different inherited disorders, including the ATR-X syndrome which is characterized by mental retardation (MR) associated with alpha-thalaessemia. Amino acid...
Hum. Mol. Genet. - issue: 4 - volume: 7 - pages: 679-684.

Villard, L.  et al. 1998

Analysis of pufferfish homologues of the AT-rich human APP gene

Mutations in the beta-amyloid precursor protein (APP) gene are associated with some forms of Familial Alzheimer's Disease. The human APP gene is large, the 19 exons span approximately 300 kb, and...
Gene - issue: 1 - volume: 210 - pages: 17-24.

Ribieras, S.  et al. 1997

Abundance of BRCA1 transcripts in human cancer and lymphoblastoid cell lines carrying BRCA1 germ-line alterations

A competitive polymerase chain reaction has been developed for quantitation of BRCA1 mRNA. In human cancer cell lines, the amount of BRCA1 mRNA is relatively low, ranging from 6 to 38 copies per cell....
Int. J. Cancer - issue: 5 - volume: 73 - pages: 715-718.

Villard, L.  et al. 1997

Determination of the genomic structure of the XNP/ATRX gene encoding a potential zinc finger helicase

The XNP/ATR-X gene is involved in several X-linked mental retardation phenotypes: the ATR-X syndrome, the Juberg-Marsidi syndrome, and some severe mental retardation phenotypes without...
Genomics - issue: 2 - volume: 43 - pages: 149-155.

Ronce, N.  et al. 1997

A C2055T transition in exon 8 of the ATP7A gene is associated with exon skipping in an occipital horn syndrome family

Am. J. Hum. Genet. - issue: 1 - volume: 61 - pages: 233-238.

Villard, L.  et al. 1997

Map location, genomic organization and expression patterns of the human RED1 RNA editase

A cDNA fragment containing sequences homologous to the rat RED1 RNA editase gene was recently identified on human chromosome 21. Here we report the location of this cDNA in distal 21q22.3 near the...
Somat. Cell Mol. Genet. - issue: 2 - volume: 23 - pages: 135-145.

Percy M, .  et al. 1997

Allingham-Hawkins D

Hagerman R
- issue: Tranebjaerg L - volume: Villard L - pages: Neri G.

Villard, L.  et al. 1996

A point mutation in the XNP gene, associated with an ATR-X phenotype without alpha-thalassemia

We have previously reported the isolation of a gene from Xq13, coding for a putative regulator of transcription (XNP). It is a member of the helicase family, and has now been shown to be the gene...
Eur. J. Hum. Genet. - issue: 6 - volume: 4 - pages: 316-320.