Search Results - "Chafey, P"
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Defective Mineralization in X-Linked Hypophosphatemia Dental Pulp Cell Cultures
Published in Journal of dental research (01-02-2018)“…X-linked hypophosphatemia (XLH) is a skeletal disease caused by inactivating mutations in the PHEX gene. Mutated or absent PHEX protein/enzyme leads to a…”
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PP028 ACTION OF CITRULLINE AT THE MUSCULAR LEVEL IN MALNOURISHED AGED RATS: PROTEOMIC APPROACH
Published in Clinical nutrition. Supplements (2010)Get full text
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3
Distal Transcript of the Dystrophin Gene Initiated from an Alternative First Exon and Encoding a 75-kDa Protein Widely Distributed in Nonmuscle Tissues
Published in Proceedings of the National Academy of Sciences - PNAS (15-08-1992)“…A transcript generated by the distal part of the Duchenne Muscular Dystrophy (DMD) gene was initially detected in cells where the full size 14-kilobase (kb)…”
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4
Growth and differentiation of C2 myogenic cells are dependent on serum response factor
Published in Molecular and Cellular Biology (01-11-1996)“…Article Usage Stats Services MCB Citing Articles Google Scholar PubMed Related Content Social Bookmarking CiteULike Delicious Digg Facebook Google+ Mendeley…”
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5
Overproduction of a truncated hepatocyte nuclear factor 3 protein inhibits expression of liver-specific genes in hepatoma cells
Published in Molecular and Cellular Biology (01-10-1995)“…Article Usage Stats Services MCB Citing Articles Google Scholar PubMed Related Content Social Bookmarking CiteULike Delicious Digg Facebook Google+ Mendeley…”
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6
Posttranslational Modification of Pili upon Cell Contact Triggers N. meningitidis Dissemination
Published in Science (American Association for the Advancement of Science) (11-02-2011)“…The Gram-negative bacterium Neisseria meningitidis asymptomatically colonizes the throat of 10 to 30% of the human population, but throat colonization can also…”
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7
Crypt-restricted proliferation and commitment to the Paneth cell lineage following Apc loss in the mouse intestine
Published in Development (Cambridge) (15-03-2005)“…Loss of Apc appears to be one of the major events initiating colorectal cancer. However, the first events responsible for this initiation process are not well…”
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8
Integrated proteomic and transcriptomic investigation of the acetaminophen toxicity in liver microfluidic biochip
Published in PloS one (08-08-2011)“…Microfluidic bioartificial organs allow the reproduction of in vivo-like properties such as cell culture in a 3D dynamical micro environment. In this work, we…”
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Positive and negative regulatory DNA elements including a CCArGG box are involved in the cell type-specific expression of the human muscle dystrophin gene
Published in The Journal of biological chemistry (25-05-1992)“…The muscle-specific promoter of the dystrophin gene is active in skeletal, cardiac, and smooth muscles and is specifically stimulated during differentiation of…”
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10
Doublecortin is a developmentally regulated, microtubule-associated protein expressed in migrating and differentiating neurons
Published in Neuron (Cambridge, Mass.) (01-06-1999)“…Recently, we and others reported that the doublecortin gene is responsible for X-linked lissencephaly and subcortical laminar heterotopia. Here, we show that…”
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Doublecortin Functions at the Extremities of Growing Neuronal Processes
Published in Cerebral cortex (New York, N.Y. 1991) (01-06-2003)“…Type I lissencephaly is a cortical malformation disorder characterized by disorganized cortical layers and gyral abnormalities and associated with severe…”
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Proteomes of umbilical vein and microvascular endothelial cells reflect distinct biological properties and influence immune recognition
Published in Proteomics (Weinheim) (01-08-2012)“…Human umbilical vein endothelial cells (HUVEC) are widely used as a source of endothelial cells (EC). However, HUVEC characteristics cannot be extrapolated to…”
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13
Identification of the leukocyte cell‐derived chemotaxin 2 as a direct target gene of β‐catenin in the liver
Published in Hepatology (Baltimore, Md.) (01-07-2004)“…To clarify molecular mechanisms underlying liver carcinogenesis induced by aberrant activation of Wnt pathway, we isolated the target genes of β‐catenin from…”
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14
Expression of the dystrophin gene in cultured fibroblasts
Published in Biochemical and biophysical research communications (15-04-1993)“…The dystrophin whose defect is responsible for Duchenne and Becker muscular dystrophies is present in muscle, brain and cerebellum. We describe here the…”
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Adenovirus-mediated transfer of a human dystrophin gene to skeletal muscle of mdx mouse
Published in Gene therapy (1994)“…Due to their quiescent nature and spatial complexity, many target tissues for gene therapy will require novel strategies. An alternative to ex vivo gene…”
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16
IL1 receptor accessory protein like, a protein involved in X-linked mental retardation, interacts with Neuronal Calcium Sensor-1 and regulates exocytosis
Published in Human molecular genetics (15-06-2003)“…Previously, human genetics-based approaches allowed us to show that mutations in the IL-1 receptor accessory protein-like gene (IL1RAPL) are responsible for a…”
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Proteomic analysis of oligodendrogliomas expressing a mutant isocitrate dehydrogenase-1
Published in Proteomics (Weinheim) (01-11-2011)“…Gliomas are primary tumors of the human central nervous system with unknown mechanisms of progression. Isocitrate dehydrogenase‐1 (IDH1) mutation is frequent…”
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Expression of the transcripts initiated in the 62nd intron of the dystrophin gene
Published in Neuromuscular disorders : NMD (01-01-1993)“…The pattern of expression of two distal transcripts initiated in the 62nd intron of the dystrophin gene was investigated under different circumstances; (i)…”
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The RhoGAP activity of OPHN1, a new F-actin-binding protein, is negatively controlled by its amino-terminal domain
Published in Molecular and cellular neuroscience (01-08-2003)“…Recent human genetic approaches showed that mutations in three genes encoding OPHN1, PAK3, and αPIX cause nonspecific X-linked mental retardation. These three…”
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A new gene involved in X-linked mental retardation identified by analysis of an X;2 balanced translocation
Published in Nature genetics (01-02-2000)“…X-linked forms of mental retardation (MR) affect approximately 1 in 600 males and are likely to be highly heterogeneous. They can be categorized into syndromic…”
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