MMG PUBLICATIONS

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Results: 2645  publications found.

Abidi, F.  et al. 1999

Carpenter-Waziri syndrome results from a mutation in XNP

Am. J. Med. Genet. - issue: 3 - volume: 85 - pages: 249-251.


Villard, L.  et al. 1999

Transcript map of the human chromosome Xq11-Xq21 region: localization of 33 novel genes and one pseudogene

The human Xq11-Xq21.3 region has been implicated in several inherited disorders including dystonia-parkinsonism (DYT3), sideroblastic anemia and several specific and non-specific forms of mental...
Gene - issue: 1-2 - volume: 235 - pages: 43-50.


Magdinier, F.  et al. 1999

BRCA1 expression during prenatal development of the human mammary gland

Germ-line alterations of BRCA1 are associated with elevated risk of breast cancer. Evidence for the involvement of Brca1 in cellular differentiation and morphogenesis has been obtained in mouse models...
Oncogene - issue: 27 - volume: 18 - pages: 4039-4043.


Holden, J. J.  et al. 1999

Eighth International workshop on the fragile X syndrome and X-linked mental retardation, August 16-22, 1997

Am. J. Med. Genet. - issue: 4 - volume: 83 - pages: 221-236.


Villard, L.  et al. 1999

Evaluation of a mutation screening strategy for sporadic cases of ATR-X syndrome

We report on the evaluation of a strategy for screening for XNP/ATR-X mutations in males with mental retardation and associated dysmorphology. Because nearly half of the mutations in this gene...
J. Med. Genet. - issue: 3 - volume: 36 - pages: 183-186.


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.