Search results for "HAP"
showing 10 items of 2767 documents
N-Heterocyclic Carbene Catalyzed [3+2] Cycloaddition of Enals with Masked Cinnamates for the Asymmetric One-Pot Synthesis of Adipic Acid Derivatives.
2017
A novel short entry to 3,4-disubstituted adipic acids has been developed by employing an asymmetric NHC-catalyzed [3+2] cycloaddition of enals with masked cinnammates in moderate to good yields and high stereoselectivities. The synthetic utility of the protocol was demonstrated by the basic conversion of the masked cyclopentanone intermediates to 3S,4S-disubstituted adipic acid precursors of pharmaceutically important gababutins.
Covert digital manipulation of vocal emotion alter speakers' emotional states in a congruent direction
2016
International audience; Research has shown that people often exert control over their emotions. By modulating expressions, reappraising feelings, and redirecting attention, they can regulate their emotional experience. These findings have contributed to a blurring of the traditional boundaries between cognitive and emotional processes, and it has been suggested that emotional signals are produced in a goal-directed way and monitored for errors like other intentional actions. However, this interesting possibility has never been experimentally tested. To this end, we created a digital audio platform to covertly modify the emotional tone of participants' voices while they talked in the directi…
CAF-like state in primary skin fibroblasts with constitutional BRCA1 epimutation sheds new light on tumor suppressor deficiency-related changes in he…
2016
Constitutive epimutations of tumor suppressor genes are increasingly considered as cancer predisposing factors equally to sequence mutations. In light of the emerging role of the microenvironment for cancer predisposition, initiation, and progression, we aimed to characterize the consequences of a BRCA1 epimutation in cells of mesenchymal origin. We performed a comprehensive molecular and cellular comparison of primary dermal fibroblasts taken from a monozygous twin pair discordant for recurrent cancers and BRCA1 epimutation, whose exceptional clinical case we previously reported in this journal. Comparative transcriptome analysis identified differential expression of extracellular matrix-r…
A Roma founder BIN1 mutation causes a novel phenotype of centronuclear myopathy with rigid spine
2018
ObjectiveTo describe a large series of BIN1 patients, in which a novel founder mutation in the Roma population of southern Spain has been identified.MethodsPatients diagnosed with centronuclear myopathy (CNM) at 5 major reference centers for neuromuscular disease in Spain (n = 53) were screened for BIN1 mutations. Clinical, histologic, radiologic, and genetic features were analyzed.ResultsEighteen patients from 13 families carried the p.Arg234Cys variant; 16 of them were homozygous for it and 2 had compound heterozygous p.Arg234Cys/p.Arg145Cys mutations. Both BIN1 variants have only been identified in Roma, causing 100% of CNM in this ethnic group in our cohort. The haplotype analysis confi…
Body shape trajectories and risk of breast cancer: results from the SUN ('Seguimiento Universidad De Navarra') Project.
2021
AbstractObjective:The aim of this study was to assess body shape trajectories in childhood and midlife in relation to subsequent risk of breast cancer (BC) in a Mediterranean cohort.Design:The ‘Seguimiento Universidad de Navarra’ (SUN) Project is a dynamic prospective cohort study of university graduates initiated in 1999. With a group-based modelling approach, we assessed body shape trajectories from age 5 to 40 years. Multivariable Cox regression models were used to estimate the hazard ratio (HR) for BC after the age of 40 years according to the body shape trajectory.Setting:City of Pamplona, in the North of Spain.Participants:6498 women with a mean age of 40 years (sd9).Results:We identi…
T-cell activation in HLA-B8,DR3-positive individuals early antigen expression defect in vitro
1995
The HLA-B8, DR3 haplotype is overrepresented in several autoimmune diseases, implying that genes predisposing to these disorders are linked to this haplotype. In the patients affected by these diseases, as well as in healthy HLA-B8, DR3 individuals, various dysfunctions reflecting an impairment of T-cell activation have been found. To better characterize T-cell impairment of HLA-B8, DR3-positive healthy individuals, we analyzed the surface expression of early (CD69) and late (CD71) activation phenotypes. MNC cultures were stimulated with PHA and used for T-cell phenotyping by flow cytometry analysis. The results showed that the percentage of CD69+ T cells was significantly decreased in MNC …
Role of APOBEC3H in the Viral Control of HIV Elite Controller Patients
2017
Background APOBEC3H (A3H) gene presents variation at 2 positions (rs139297 and rs79323350) leading to a non-functional protein. So far, there is no information on the role played by A3H in spontaneous control of HIV. The aim of this study was to evaluate the A3H polymorphisms distribution in a well-characterized group of Elite Controller (EC) subjects. Methods We analyzed the genotype distribution of two different SNPs (rs139297 and rs79323350) of A3H in 30 EC patients and compared with 11 non-controller (NC) HIV patients. Genotyping was performed by PCR, cloning and Sanger sequencing. Both polymorphisms were analyzed jointly in order to adequately attribute the active or inactive status of…
Impact of combinations of single-nucleotide polymorphisms of anthracycline transporter genes upon the efficacy and toxicity of induction chemotherapy…
2020
Anthracycline uptake could be affected by influx and efflux transporters in acute myeloid leukemia (AML). Combinations of single-nucleotide polymorphisms (SNPs) of wild-type genotype of influx transporters (SLC22A16, SLCO1B1) and homozygous variant genotypes of ABC polymorphisms (ABCB1, ABCC1, ABCC2, ABCG2) were evaluated in 225 adult de novo AML patients. No differences in complete remission were reported, but higher induction death was observed with combinations of SLCO1B1 rs4149056 and ABCB1 (triple variant haplotype, rs1128503), previously associated with ABCB1 and SLCO1B1 SNPs. Several combinations of SLCO1B1 and SLC22A16 with ABCB1 SNPs were associated with higher toxicities, includin…
Cellular and humoral immunity to the 60-kD heat shock protein in inflammatory bowel disease.
1997
Background: Mycobacteria have been considered a possible etiological agent in Crohn’s disease. Since cross-reactivity between epitopes of mycobacterial and self-heat shock protein might represent a potential disease mechanism, we determined the cellular and humoral immune responses to the mycobacterial and the human 60-kD heat shock protein, as well as various control antigens. Methods: We studied samples from 19 patients with Crohn’s disease, 12 patients with ulcerative colitis, and from 19 healthy individuals. T cell responses were studied using a standard proliferation assays to purified recombinant mycobacterial and human 60-kD heat shock protein. Antibody levels were measured by establ…
Giant pseudocyst of the abdominal wall following incisional ventral hernia repair: an extremely rare clinical entity. Report of a case
2021
Il “gold standard” per il trattamento dei laparoceli è l’intervento chirurgico con impiego di protesi, nonostante questo approccio sia gravato da numerose complicanze post-operatorie; tra queste possiamo annoverare le pseudocisti giganti della parete addominale, tale evenienza risulta ancora molto rara e la sua eziopatogenesi riamane non chiara. In questo lavoro descriviamo il caso clinico di una paziente di 36 anni, diabetica ed obesa, precedentemente sottoposta a taglio cesareo e riparazione di laparocele con posizionamento di protesi in sede soprafasciale. La paziente si è presentata presso i nostri ambulatori per la comparsa di un gonfiore asintomatico a livello della fossa iliaca sinis…