Search results for " pair"
showing 10 items of 779 documents
Joint second-order parameter estimation for spatio-temporal log-Gaussian Cox processes
2018
We propose a new fitting method to estimate the set of second-order parameters for the class of homogeneous spatio-temporal log-Gaussian Cox point processes. With simulations, we show that the proposed minimum contrast procedure, based on the spatio-temporal pair correlation function, provides reliable estimates and we compare the results with the current available methods. Moreover, the proposed method can be used in the case of both separable and non-separable parametric specifications of the correlation function of the underlying Gaussian Random Field. We describe earthquake sequences comparing several Cox model specifications.
B-DNA Structure and Stability as Function of Nucleic Acid Composition. Dispersion-Corrected DFT Study of Dinucleoside-Monophosphate Single and Double…
2013
actions of the sugar-phosphate skeleton with water; (6) hydrophobic interactions of the DNA cylindrical core, made up by the hydrogen-bonded and stacked nitrogen bases, with the water solvent. Recently, there has been increasing effort in developing and applying quantum chemical methods able to reproduce the structure of native B-DNA and to correctly describe the energy involved in the intrastrand and interstrand noncovalent interactions between the nucleotide monomers. This topic has been approached by both wave function methods and density functional theory. [2] Water solvent and sodium counterions also play an important role in the formation and relative stabilization of the double-helic…
Amine basicity: measurements of ion pair stability in ionic liquid media
2007
Abstract The stability constants relevant to the formation of amine/p-nitrophenol ion pairs have been determined in [bmim][BF4] solution, in the presence of butylamine, piperidine, and triethylamine, by using spectrophotometric measurements. In order to evaluate how the ion pair stability is affected by ionic liquid structure, piperidine has been chosen as model amine for studies in [bmim][PF6], [bmim][NTf2], [bm2im][NTf2] and in several [bmim][BF4]/1,4-dioxane binary mixtures. Data obtained in ionic liquid solutions have been compared with those previously reported in conventional organic solvents.
Fine mapping of the 2p11 dyslexia locus and exclusion of TACR1 as a candidate gene.
2003
Developmental dyslexia, or reading disability, is a multigenic complex disease for which at least five loci, i.e. DYX1-3 and DYX5-6, have been clearly identified from the human genome. To date, DYX1C1 is the only dyslexia candidate gene cloned. We have previously reported linkage to 2p11 and 7q32 in 11 Finnish pedigrees. Here, we report the fine mapping of the approximately 40-cM linked region from chromosome 2 as we increased marker density to one per 1.8 cM. Linkage was supported with the highest NPL score of 3.0 (P=0.001) for marker D2S2216. Association analysis using the six pedigrees showing linkage pointed to marker D2S286/rs3220265 (P value0.001) in the near vicinity of D2S2216. We w…
Microdeletion 22q11 in complex cardiovascular malformations.
1997
Besides DiGeorge, velocardiofacial and conotruncal anomaly face syndromes, some of the isolated congenital heart diseases have also been associated with a chromosomal deletion in 22q11. These disease entities, which had originally been considered to have a different genetic background, are now included in the CATCH-22 microdeletion complex. CATCH 22 is an acronym for cardiac defect, abnormal facies, thymic hypoplasia or aplasia and T-cell deficiency, cleft palate, hypoparathyroidism, and hypocalcemia. In the present study, we focused on the complex cardiovascular defects (CCVD) and screened 40 patients for a microdeletion of 22q11 by fluorescence in situ hybridization using the D22S75 DNA p…
Delineation of the 3p14.1p13 microdeletion associated with syndromic distal limb contractures
2014
International audience; Distal limb contractures (DLC) represent a heterogeneous clinical and genetic condition. Overall, 20–25% of the DLC are caused by mutations in genes encoding the muscle contractile apparatus. Large interstitial deletions of the 3p have already been diagnosed by standard chromosomal analysis, but not associated with a specific phenotype. We report on four patients with syndromic DLC presenting with a de novo 3p14.1p13 micro-deletion. The clinical features associated multiple contractures, feeding problems, developmental delay, and intellectual disability. Facial dysmorphism was constant with low-set posteriorly rotated ears and blepharophimosis. Review of previously r…
Synthesis of and structural studies on lead(II) cysteamin complexes.
2004
The novel compounds PbCl(2).(SCH(2)CH(2)NH(3)) (1), Pb(SCH(2)CH(2)NH(2))(2).2PbCl(SCH(2)CH(2)NH(2)) (2), and Pb(SCH(2)CH(2)NH(2))(2) (3) were synthesized by reaction of PbO or PbCl(2) with [HSCH(2)CH(2)NH(3)]Cl and NaOH, and were characterized by elemental analysis, IR-, and UV/vis-spectroscopy. Single-crystal X-ray diffraction revealed different coordination modes for the two Pb atoms in 2. The Pb atom in the Pb(SCH(2)CH(2)NH(2))(2) unit forms two covalent Pb-S and two intramolecular dative Pb...N bonds, leading to a pseudo trigonal bipyramidal configuration with a stereochemically active lone pair. The Pb atom in the PbCl(SCH(2)CH(2)NH(2)) unit, the first moiety structurally characterized…
Further delineation of eye manifestations in homozygous 15q13.3 microdeletions including TRPM1: a differential diagnosis of ceroid lipofuscinosis.
2014
The 15q13.3 heterozygous microdeletion is a fairly common microdeletion syndrome with marked clinical variability and incomplete penetrance. The average size of the deletion, which comprises six genes including CHRNA7, is 1.5 Mb. CHRNA7 has been identified as the gene responsible for the neurological phenotype in this microdeletion syndrome. Only seven patients with a homozygous microdeletion that includes at least CHRNA7, and is inherited from both parents have been described in the literature. The aim of this study was to further describe the distinctive eye manifestations from the analysis in the three French patients diagnosed with the classical 1.5 Mb homozygous microdeletion. Patients…
New Insights into the complexation of lead(II) by 1,4,7,10-tetrakis(carbamoylmethyl)-1,4,7,10-tetraazacyclododecane (DOTAM): structural, thermodynami…
2007
The lead(II) coordination properties of the tetrapodal ligand DOTAM [1,4,7,10-tetrakis(carbamoylmethyl)-1,4,7,10-tetraaza-cyclododecane] have been investigated both in the solid state and in solution in order to ascertain the stereoactivity of the lone pair and to rationalize the structural effects of a cyclen-based scaffold on the metal uptake kinetics. The crystal structure of the free base shows that the pendant acetamide groups are not equivalent: two are folded over the macrocycle and maintained by an intramolecular hydrogen bond involving an amide hydrogen atom and a neighboring tertiary amine of the cyclen ring, while the other two are extended and point away from the macrocyclic cav…
Menopause and adipose tissue: miR-19a-3p is sensitive to hormonal replacement
2018
Tissue-specific effects of 17 beta-estradiol are delivered via both estrogen receptors and microRNAs (miRs). Menopause is known to affect the whole-body fat distribution in women. This investigation aimed at identifying menopause-and hormone replacement therapy (HRT)-associated miR profiles and miR targets in subcutaneous abdominal adipose tissue and serum from the same women. A discovery phase using array technology was performed in 13 women, including monozygotic twin pairs discordant for HRT and premenopausal young controls. Seven miRs, expressed in both adipose tissue and serum, were selected for validation phase in 34 women from a different cohort. An age/menopause-related increase of …