PUBLICATIONS of MMG

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Résultats : 3193  publications trouvées.

Lévy, N.  et al. 1999

A polymorphic microsatellite XNP-GT in the XNP/ATRX gene's promotor allows familial indirect diagnosis

Hum. Mutat. - issue: 5 - volume: 14 - pages: 448.

Villard, L.  et al. 1999

Two unrelated patients with inversions of the X chromosome and non-specific mental retardation: physical and transcriptional mapping of their common breakpoint region in Xq13.1

Two unrelated mildly retarded males with inversions of the X chromosome and non-specific mental retardation (MRX) are described. Case 1 has a pericentric inversion 46,Y,inv(X) (p11.1q13.1) and case 2...
J. Med. Genet. - issue: 10 - volume: 36 - pages: 754-758.

Villard, L.  et al. 1999

Characterization of xnp-1, a Caenorhabditis elegans gene similar to the human XNP/ATR-X gene

We report the characterization of a new Caenorhabditis elegans gene, xnp-1, that encodes the closest known non-mammalian relative of the human XNP/ATR-X protein. Mutations in the corresponding gene...
Gene - issue: 1 - volume: 236 - pages: 13-19.

Bartoli, M.  et al. 1999

Down-regulation of striatin, a neuronal calmodulin-binding protein, impairs rat locomotor activity

Striatin, an intraneuronal, calmodulin-binding protein addressed to dendrites and spines, is expressed in the motor system, particularly the striatum and motoneurons. Striatin contains a high number...
J. Neurobiol. - issue: 2 - volume: 40 - pages: 234-243.

Etchevers, HC.  et al. 1999

Anterior cephalic neural crest is required for forebrain viability

The prosencephalon, or embryonic forebrain, grows within a mesenchymal matrix of local paraxial mesoderm and of neural crest cells (NCC) derived from the posterior diencephalon and mesencephalon. Part...
Development - issue: 16 - volume: 126 - pages: 3533-3543.

Lossi, AM.  et al. 1999

Mutation of the XNP/ATR-X gene in a family with severe mental retardation, spastic paraplegia and skewed pattern of X inactivation: demonstration that the mutation is involved in the inactivation bias

Am. J. Hum. Genet. - issue: 2 - volume: 65 - pages: 558-562.

Bartoli, M.  et al. 1999

Down-regulation of striatin, a neuronal calmodulin-binding protein, impairs rat locomotor activity

Striatin, an intraneuronal, calmodulin-binding protein addressed to dendrites and spines, is expressed in the motor system, particularly the striatum and motoneurons. Striatin contains a high number...
J. Neurobiol. - issue: 2 - volume: 40 - pages: 234-243.

Etchevers, HC.  et al. 1999

Anterior cephalic neural crest is required for forebrain viability

The prosencephalon, or embryonic forebrain, grows within a mesenchymal matrix of local paraxial mesoderm and of neural crest cells (NCC) derived from the posterior diencephalon and mesencephalon. Part...
Development - issue: 16 - volume: 126 - pages: 3533-3543.

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.