Search results for " Genetics"
showing 10 items of 4169 documents
Environmental features of deep-sea habitats linked to the genetic population structure of a crustacean species in the Mediterranean Sea
2009
The deep-sea habitat, from 200 to 2000 m depth, has long been thought as an ecosystem where biotic and abiotic factors vary very little and consequently species are not disturbed by processes and phenomena which could promote fast evolutionary mechanisms. Unfortunately, biological information relating to deep water is limited, especially regarding the population genetics of species inhabiting the Mediterranean Sea, and general patterns cannot be inferred. In this study we report data on the population genetic structure of Aristeus antennatus, a deep-sea decapod crustacean species which has been widely studied due to its important economic value. We surveyed and examined the variation in a 3…
A genomic reappraisal of symbiotic function in the aphid/Buchnera symbiosis: reduced transporter sets and variable membrane organisations.
2011
International audience; Buchnera aphidicola is an obligate symbiotic bacterium that sustains the physiology of aphids by complementing their exclusive phloem sap diet. In this study, we reappraised the transport function of different Buchnera strains, from the aphids Acyrthosiphon pisum, Schizaphis graminum, Baizongia pistaciae and Cinara cedri, using the re-annotation of their transmembrane proteins coupled with an exploration of their metabolic networks. Although metabolic analyses revealed high interdependencies between the host and the bacteria, we demonstrate here that transport in Buchnera is assured by low transporter diversity, when compared to free-living bacteria, being mostly bas…
Preclinical models for prediction of immunotherapy outcomes and immune evasion mechanisms in genetically heterogeneous multiple myeloma
2023
AbstractThe historical lack of preclinical models reflecting the genetic heterogeneity of multiple myeloma (MM) hampers the advance of therapeutic discoveries. To circumvent this limitation, we screened mice engineered to carry eight MM lesions (NF-κB, KRAS, MYC, TP53, BCL2, cyclin D1, MMSET/NSD2 and c-MAF) combinatorially activated in B lymphocytes following T cell-driven immunization. Fifteen genetically diverse models developed bone marrow (BM) tumors fulfilling MM pathogenesis. Integrative analyses of ∼500 mice and ∼1,000 patients revealed a common MAPK–MYC genetic pathway that accelerated time to progression from precursor states across genetically heterogeneous MM. MYC-dependent time …
Calculated Whole Blood Viscosity and Albumin/Fibrinogen Ratio in Patients with a New Diagnosis of Multiple Myeloma: Relationships with Some Prognosti…
2023
Background: In this single center study, we retrospectively evaluated the calculated hemorheological profile in patients with a new diagnosis of multiple myeloma, with the aim to evaluate possible relationships with some prognostic predictors, such as ISS, albumin levels, beta2-microglobulin, red cell distribution width, and bone marrow plasma cell infiltration. Methods: In a cohort of 190 patients, we examined the calculated blood viscosity using the de Simone formula, and the albumin/fibrinogen ratio as a surrogate of erythrocyte aggregation, and then we related these parameters to prognostic factors, using the Kruskal–Wallis and the Mann–Whitney tests, respectively. Results: From our ana…
The assessment of skeletal status in young patients with Turner syndrome by 2 densitometric techniques: Phalangeal quantitative ultrasound and dual e…
2018
Background. Studies using dual energy X-ray absorptiometry (DXA) demonstrate a reduction in bone mineral density (BMD) in children and adolescents with Turner syndrome (TS). However, these studies do not take into account changes in bone size, which influence BMD in the case of short-statured patients. Phalangeal quantitative ultrasound (phQUS) measurements have shown an ability to reveal changes due to skeletal growth, aging, and bone and mineral disorders. There is limited data on bone mineral status in girls with TS assessed by 2 different techniques, i.e., DXA and phQUS. Objectives. The aim of this study was to investigate the potential negative impact of TS on bone status and to assess…
Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenital
2022
BackgroundArthrogryposis multiplex congenita (AMC) is characterised by congenital joint contractures in two or more body areas. AMC exhibits wide phenotypic and genetic heterogeneity. Our goals were to improve the genetic diagnosis rates of AMC, to evaluate the added value of whole exome sequencing (WES) compared with targeted exome sequencing (TES) and to identify new genes in 315 unrelated undiagnosed AMC families.MethodsSeveral genomic approaches were used including genetic mapping of disease loci in multiplex or consanguineous families, TES then WES. Sanger sequencing was performed to identify or validate variants.ResultsWe achieved disease gene identification in 52.7% of AMC index pati…
Tumour necrosis factor in rheumatoid arthritis and osteoarthritis patients in blood serum and synovial fluid
2010
Rheumatoid arthritis (RA) is a chronic autoimmune disease of unknown cause which affects the ability of elderly people to work. There is strong evidence to suggest that inflammatory mediators such as tumour necrosis factor α (TNFα) and interleukin 1 (IL1) have a critical role in the pathogenesis of RA. Biological treatment blocks pathological pathways in the actions of these proinflammatory cytokines. The aim of this study was …
Sense and Antisense DMPK RNA Foci Accumulate in DM1 Tissues during Development.
2015
International audience; Myotonic dystrophy type 1 (DM1) is caused by an unstable expanded CTG repeat located within the DMPK gene 3'UTR. The nature, severity and age at onset of DM1 symptoms are very variable in patients. Different forms of the disease are described, among which the congenital form (CDM) is the most severe. Molecular mechanisms of DM1 are well characterized for the adult form and involve accumulation of mutant DMPK RNA forming foci in the nucleus. These RNA foci sequester proteins from the MBNL family and deregulate CELF proteins. These proteins are involved in many cellular mechanisms such as alternative splicing, transcriptional, translational and post-translational regul…
Osteoprotegerin: multiple partners for multiple functions.
2013
Osteoprotegerin (OPG) is an essential secreted protein in bone turnover due to its role as a decoy receptor for the Receptor Activator of Nuclear Factor-kB ligand (RANKL) in the osteoclasts, thus inhibiting their differentiation. However, there are additional ligands of OPG that confer various biological functions. OPG can promote cell survival, cell proliferation and facilitates migration by binding TNF-related apoptosis inducing ligand (TRAIL), glycosaminoglycans or proteoglycans. A large number of in vitro, pre-clinical and clinical studies provide evidences of OPG involvement in vascular, bone, immune and tumor biology. This review describes an overview of the different OPG ligands regu…
FRI0194 Is There an Association Between Spondyloarthritis and Antibodies Towards Borrelia, Ehrlichia and Chlamydia Species?
2015
Background Several studies suggested that certain microorganisms might contribute to initiation and perpetuation of spondyloarthritis (SpA). Objectives To investigate IgG and IgM antibodies towards Borrelia burgdorferi (Bb), Borrelia garinii (Bg), Borrelia afzelii (Ba), Ehrlichia spp. (Ehr), Chlamydia trachomatis (Ct), and Chlamydia pneumoniae (Cp) in SpA patients, low back pain patients, and healthy subjects and to elucidate whether previous infections could play a role in the onset of SpA. Methods Data collection was based on persons aged 18-40 years referred with low back pain for ≥3 months. They were examined with MRI of the spine and sacroiliac joints, CRP, HLA-B27, and clinical SpA fe…