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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.


Castets, F.  et al. 1996

A novel calmodulin-binding protein, belonging to the WD-repeat family, is localized in dendrites of a subset of CNS neurons

A rat brain synaptosomal protein of 110,000 M(r) present in a fraction highly enriched in adenylyl cyclase activity was microsequenced (Castets, F., G. Baillat, S. Mirzoeva, K. Mabrouk, J. Garin, J....
J. Cell Biol. - issue: 4 - volume: 134 - pages: 1051-1062.


Castets, F.  et al. 1996

A novel calmodulin-binding protein, belonging to the WD-repeat family, is localized in dendrites of a subset of CNS neurons

A rat brain synaptosomal protein of 110,000 M(r) present in a fraction highly enriched in adenylyl cyclase activity was microsequenced (Castets, F., G. Baillat, S. Mirzoeva, K. Mabrouk, J. Garin, J....
J. Cell Biol. - issue: 4 - volume: 134 - pages: 1051-1062.


Raynaud, M.  et al. 1996

X-linked mental retardation with neonatal hypotonia in a French family (MRX15): gene assignment to Xp11.22-Xp21.1

Linkage analysis was performed in a family with non-specific X-linked mental retardation (MRX 15). Hypotonia in infancy was the most remarkable physical manifestation. The severity of mental...
Am. J. Med. Genet. - issue: 1 - volume: 64 - pages: 97-106.


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.


Villard, L.  et al. 1996

XNP mutation in a large family with Juberg-Marsidi syndrome

Nat. Genet. - issue: 4 - volume: 12 - pages: 359-360.


Villard, L.  et al. 1996

Splicing mutation in the ATR-X gene can lead to a dysmorphic mental retardation phenotype without alpha-thalassemia

We have previously reported the isolation of a gene from Xq13 that codes for a putative regulator of transcription (XNP) and has now been shown to be the gene involved in the X-linked...
Am. J. Hum. Genet. - issue: 3 - volume: 58 - pages: 499-505.


Villard, L.  et al. 1995

Use of interspersed repetitive sequences-PCR products for cDNA selection

In order to increase the efficiency of cDNA selection approaches, we describe the use of interspersed repetitive sequences-PCR (IRS-PCR) products to isolate genes from large-insert genomic clones....
Mamm. Genome - issue: 9 - volume: 6 - pages: 617-622.


Gibbons, RJ.  et al. 1995

Mutations in a putative global transcriptional regulator cause X-linked mental retardation with alpha-thalassemia (ATR-X syndrome)

The ATR-X syndrome is an X-linked disorder comprising severe psychomotor retardation, characteristic facial features, genital abnormalities, and alpha-thalassemia. We have shown that ATR-X results...
Cell - issue: 6 - volume: 80 - pages: 837-845.


Villard, L.  et al. 1995

Construction of a YAC contig spanning the Xq13.3 subband

The loci involved in several X-linked mental retardation syndromes have been linked to the pericentromeric region of the X chromosome long arm (Xq12-q21). To isolate candidate genes for these...
Genomics - issue: 1 - volume: 26 - pages: 115-122.


Clark, PA.  et al. 1994

Deletion mapping of the DXS986, DXS995, and DXS1002 loci defines their order within Xq21

The three microsatellite repeat loci, DXS986, DXS995, and DXS1002, have been mapped to Xq13.2-21.1. We report here their relative order and their localisation within Xq21. These loci will be useful...
J. Med. Genet. - issue: 4 - volume: 31 - pages: 344-345.


Gecz, J.  et al. 1994

Cloning and expression of the murine homologue of a putative human X-linked nuclear protein gene closely linked to PGK1 in Xq13.3

Several human inherited diseases have been localized to the Xq13.3 region of the human X chromosome (X-linked dystonia with Parkinsonism, sideroblastic anemia, SCID, Menkes disease and X-linked mental...
Hum. Mol. Genet. - issue: 1 - volume: 3 - pages: 39-44.


Gecz, J.  et al. 1993

Physical and transcriptional mapping of DXS56-PGK1 1 Mb region: identification of three new transcripts

Several new techniques for isolation expressed sequences have been recently described considerably speeding up the identification of unknown genes. Here we present a transcriptional map of the 1 Mb...
Hum. Mol. Genet. - issue: 9 - volume: 2 - pages: 1389-1396.