Search results for "Molecules"

Cohen syndrome is associated with major glycosylation defects

2014

International audience; Cohen syndrome (CS) is a rare autosomal recessive disorder with multisytemic clinical features due to mutations in the VPS13B gene, which has recently been described encoding a mandatory membrane protein involved in Golgi integrity. As the Golgi complex is the place where glycosylation of newly synthesized proteins occurs, we hypothesized that VPS13B deficiency, responsible of Golgi apparatus disturbance, could lead to glycosylation defects and/or mysfunction of this organelle, and thus be a cause of the main clinical manifestations of CS. The glycosylation status of CS serum proteins showed a very unusual pattern of glycosylation characterized by a significant accum…

Primary Plasma Cell Leukemia Associated with Adult Fanconi Syndrome

2006

Abstract Primary plasma cell leukemia (PCL) is a rare variant of multiple myeloma that occurs de novo in patients without a history of plasma cell disorder. We describe a case of λ PCL that showed a prolonged survival of 2 years and 6 months associated with a generalized dysfunction of the proximal renal tubule. On presentation, the patient had anemia (hemoglobin level, 11 g/dL), thrombocytopenia (platelet count, 102,000/μL), and renal insufficiency (creatinine level, 2.75 mg/dL; creatinine clearance, 19 mL per minute; urea, 71 mg/dL). In addition to the common clinical picture, our case showed proteinuria (30 mg/dL), glycosuria (150 mg/dL) with normal glycemia, low uric acid concentration …

Synthesis of undulin by rat liver fat-storing cells: Comparison with fibronectin and tenascin

1992

Abstract Fat-storing cells (FSCs) are known to synthesize various components of the hepatic extracellular matrix and thereby play an important role during liver fibrogenesis. The aim of our study was to investigate the synthesis of undulin, a recently described connective tissue protein belonging to the fibronectin—tenascin superfamily of glycoproteins, by fat-storing cells in primary culture. SDS-PAGE analysis of immunoprecipitates from cell layer lysates or media pulse-labeled with radioactive methionine revealed undulin-specific bands A (270 kDa), B1 (190 kDa), and B2 (180 kDa) after reduction. A single undulin-specific transcript was detected at about 7 kb. Undulin synthesized by cell-f…

Mural granulosa cells of the human follicles indirectly show death molecular signals not depending on different ovarian stimulation protocols

2021

Ab initio determination of the electron affinities of DNA and RNA nucleobases

2008

High-level quantum-chemical ab initio coupled-cluster and multiconfigurational perturbation methods have been used to compute the vertical and adiabatic electron affinities of the five canonical DNA and RNA nucleobases: uracil, thymine, cytosine, adenine, and guanine. The present results aim for the accurate determination of the intrinsic electron acceptor properties of the isolated nucleic acid bases as described by their electron affinities, establishing an overall set of theoretical reference values at a level not reported before and helping to rule out less reliable theoretical and experimental data and to calibrate theoretical strategies. Daniel.Roca@uv.es Manuela.Merchan@uv.es Luis.Se…

Modification of the supramolecular structure of [(thione)IY] (Y = Cl, Br) systems by cooperation of strong halogen bonds and hydrogen bonds

2015

Four interhalogen complexes of heterocyclic thione ligands N-methylbenzothiazole-2-thione (mbtt) and 2(3)H-benzothiazole-thione (btt) with strong and tunable S⋯I halogen bonds were synthesized and characterized by X-ray single crystal diffraction. The study of the strength and nature of the interactions was supported by computational analysis using the Quantum Theory of Atoms in Molecules (QTAIM). Halogen bond and hydrogen bond directed self-assemblies of thione compounds were efficiently modified by the changes in the halogen bond donor and acceptor structures. In structures [(mbtt)ICl] (1) and [(mbtt)IBr] (2) the interplay of halogen bonds and hydrogen bonds between the thione hydrogens a…

Electronic structure of tetraphenyldithiapyranylidene : A valence effective Hamiltonian theoretical investigation

1992

We present a theoretical investigation of the electronic structure of tetraphenyldithiapyranylidene (DIPSΦ4) using the nonempirical valence effective Hamiltonian (VEH) method. Molecular geometries are optimized at the semiempirical PM3 level which predicts an alternating nonaromatic structure for the dithiapyranylidene (DIPS) framework. The VEH one‐electron energy level distribution calculated for DIPSΦ4 is presented as a theoretical XPS simulation and is analyzed by comparison to the electronic structure of its molecular components DIPS and benzene. The theoretical VEH spectrum is found to be fully consistent with the experimental solid‐state x‐ray photoelectron spectroscopy (XPS) spectrum…

Heavy quark spin symmetry and SU(3)-flavour partners of the X (3872)

2013

In this work, an Effective Field Theory (EFT) incorporating light SU(3)-flavour and heavy quark spin symmetries is used to describe charmed meson-antimeson bound states. At Lowest Order (LO), this means that only contact range interactions among the heavy meson and antimeson fields are involved. Besides, the isospin violating decays of the X(3872) will be used to constrain the interaction between the D and a (D) over bar* mesons in the isovector channel. Finally, assuming that the X(3915) and Y(4140) resonances are D* (D) over bar* and D-s* (D) over bar (s)* molecular states, we can determine the four Low Energy Constants (LECs) of the EFT that appear at LO and, therefore, the full spectrum…

Interaction of iron(II)-heme and artemisinin with a peptide mimic of Plasmodium falciparum HRP-II

2007

Abstract The interaction of heme or heme-artemisinin adducts (heme-art) with different peptides mimicking repeat sequences of the Histidine-Rich-Protein-II of Plasmodium falciparum (PfHRP-II) was investigated. The pseudo-first order rate constants of the coordination of heme or heme-art onto a histidine rich peptide, used as a mimic of PfHRP-II putative heme binding sequence, are of the same order of magnitude, namely 42 and 14 s −1 , respectively. Despite the intrinsic reactivity of the carbonyl at C10 of heme-art toward a hydroxyl function, a peptide containing a serine or threonine residue does not readily react with heme-art adducts. Therefore, a much higher affinity of heme-art compare…

Immunohistochemical Study as a Tool in Differential Diagnosis of Pediatric Malignant Rhabdoid Tumor

2010

Malignant rhabdoid tumors (MRTs) are aggressive childhood neoplasms, occurring mainly in the kidney and brain. We describe 2 unusual cases of extrarenal and noncranial location (liver and soft tissue with dissemination) mimicking hepatoblastoma, neuroblastoma or Ewing sarcoma. Both cases revealed a polyphenotypic profile, combined with cytokeratin, vimentin, and CD99 expression. INI1/BAF-47 showed negative protein nuclear expression in both cases, suggesting a diagnosis of MRT. An extensive immunohistochemical panel was performed to exclude pediatric tumors reminiscent of MRT. The genetic studies failed to detected MYCN amplification, 11q23 deletion, and EWS break-apart positivity. No alter…