OBJECTIVE To study circadian BP patterns in patients with congenital central hypoventilation syndrome (CCHS). DESIGN Case-control study. SETTING Teaching hospital in Paris, France. PATIENTS Eleven patients with CCHS (median age, 13 years; range, 6 to 18 years) and 11 sex- and height-matched control subjects. INTERVENTION None. METHODS Each subject underwent 24-h ambulatory BP monitori...

Genomic clones containing sequences homologous to an esterase 6 (Est-6) cDNA clone were isolated from a library of Drosophila melanogaster DNA. Comparison of the genomic and cDNA sequences revealed that the Est-6 gene comprises two exons, one of 1,387 bp and one of 248 bp, separated by a short intron of 51 bp. Further sequencing revealed the presence of a tandem duplication of the Est-6 gene (d...

The continued growth of data and high-continuity of application have raised a critical and mounting demand on storage-efficient and high-performance data protection. New technologies, especially the D2D (Disk-to-Disk) deduplication storage are therefore getting wide attention both in academic and industry in the recent years. Existing deduplication systems mainly rely on duplicate locality insi...

The gene for autosomal recessive spinal muscular atrophy (SMA) has been mapped to 5q12 in a region that contains repeated markers and genes. Three cDNAs that detect deletions in SMA patients have been reported. One of these, the survival motor neuron (SMN) cDNA, is encoded by two genes (SMNT and SMNC) which are distinguished by base changes in exons 7 and 8. Exon 7 of the SMNT gene is not detec...

Tandem duplications of gene-encoding regions occur in the mitochondrial DNA (mt DNA) of some individuals belonging to several species of whiptail lizards (genus Cnemidophorus). All or part of the duplicated regions of the mtDNAs from five different species were sequenced. In all, the duplication endpoints were within or immediately adjacent to sequences in tRNA, rRNA or protein genes that are c...

Identification of the RANKL/OPG/RANK/NF-kB (receptor activator of nuclear factor -B ligand / osteoprotegerin) signaling pathway as the major regulatory system for osteoclastogenesis began with discovery of these ligands and receptors in the tumor necrosis factor (TNF) superfamily. Subsequently, genetically altered mice revealed physiologic roles for these proteins in bone biology. However, full...

Paired box 7 (Pax7) gene, a member of the paired box gene family, plays a critical role in animal growth and muscle development, especially in cell proliferation and self-renewal. The aim of this study was to detect the 10 base pair (bp) duplication insertion/deletion (indel) in the promoter region within the bovine Pax7 gene as well as its association with growth traits. Herein, a total of 718...