Search results for "Chains"
showing 10 items of 257 documents
Experience with the PCR-based HLA-DQ? DNA typing system in routine forensic casework
1993
The results of HLA-DQ alpha typing from 42 routine forensic cases using the polymerase chain reaction (PCR) were analyzed regarding the reliability, discrimination efficiency and informative value of this system in a given case. The cases included stain typing from a variety of different substates, i.e. blood and semen stains, mixed body fluids, single hairs, cigarette butts, material from fingernail scratches, as well as identification and paternity cases on postmortem and fixed tissue. A total of 125 individual stain and tissue samples were included. PCR amplification was achieved in 70% of these samples. In cases with mixed body fluids, e.g. sperm and vaginal cells from rape cases, DQ al…
Comprehensive geriatric assessment decreases prevalence of orthostatic hypotension in older persons
2013
Background: Orthostatic hypotension (OH) is associated with significant morbidity and mortality among older people. We have studied whether its prevalence can be reduced by a Comprehensive Geriatric Assessment (CGA). Study design and setting: 1000 randomly-selected persons aged ≥75 years were divided into intervention ( n = 500) and control groups ( n = 500). We focused on those subjects in whom an orthostatic blood pressure test had been performed at least once during the study period (2004–2007) ( n = 365 and 332 for intervention and control groups, respectively). A CGA, including evaluation of the adequacy of the medication, was performed annually in the intervention group but not in th…
Novel slow-skeletal myosin (MYH7) mutation in the original myosin storage myopathy kindred
2006
Abstract Myosin storage myopathy (OMIM 608358), a congenital myopathy characterised by subsarcolemmal, hyaline-like accumulations of myosin in Type I muscle fibres, was first described by Cancilla and Colleagues in 1971 [Neurology 1971;21:579–585] in two siblings as ‘familial myopathy with probable lysis of myofibrils in type I muscle fibres'. Two mutations in the slow skeletal myosin heavy chain gene ( MYH7 ) have recently been associated with the disease in other families. We have identified a novel heterozygous Leu1793Pro mutation in MYH7 in DNA from paraffin sections of one of the original siblings. This historical molecular analysis confirms the original cases had myosin storage myopat…
HLA-A, -B and -DRB1 allele frequencies in Cyrenaica population (Libya) and genetic relationships with other populations.
2011
Abstract The frequencies of HLA-A, HLA-B and HLA-DRB1 alleles in 118 unrelated Libyans from Benghazi (Cyrenaica) were analysed using high resolution typing and compared with other populations. Their relatedness has been tested by correspondence analyses and principal component analysis. The most frequent HLA-A alleles were A ∗ 02:01:01:01 (15.7%), A ∗ 01:01:01:01 (11.4%) and A ∗ 03:01:01:01 (9.3%). For the HLA-B locus, the commonest allele was HLA-B ∗ 50:01:01 (14.4%) followed by B ∗ 51:01:01 (9.8%) and B ∗ 08:01:01 (6.4%). For the HLA-DRB1 locus, the commonest was HLA-DRB1 ∗ 07:01:01:01 (16.9%) followed by DRB1 ∗ 03:01:01:01 (13.6%) and DRB1 ∗ 13:02:01 (9.3%). The most frequent two-locus h…
The invariant chains of mouse class II antigens: biochemical properties and molecular relationship
1984
The proteins p40 (Mr = 40 000), p32 (Mr = 32 000), p28 (Mr = 28 000), p20 (Mr = 20 000) and p10 (Mr = 10 000) are described which occur in noncovalent association with the polymorphic alpha, beta heterodimer of class II antigens. They were investigated with respect to their molecular characteristics and their mutual structural relationship. p32, the predominant species of this group corresponds to the invariant chain gamma (Ii). In contrast to the polymorphic subunits alpha and beta, proteins p40, p28, p20 and p10 migrated like gamma in electrophoretically constant positions, when class II molecules of different subregions and different alleles were assessed by two-dimensional gel electroph…
Modeling human osteosarcoma in mice through 3AB‐OS cancer stem cell xenografts
2012
Osteosarcoma is the second leading cause of cancer-related death for children and young adults. In this study, we have subcutaneously injected—with and without matrigel—athymic mice (Fox1nu/nu) with human osteosarcoma 3AB-OS pluripotent cancer stem cells (CSCs), which we previously isolated from human osteosarcoma MG63 cells. Engrafted 3AB-OS cells were highly tumorigenic and matrigel greatly accelerated both tumor engraftment and growth rate. 3AB-OS CSC xenografts lacked crucial regulators of beta-catenin levels (E-cadherin, APC, and GSK-3beta), and crucial factors to restrain proliferation, resulting therefore in a strong proliferation potential. During the first weeks of engraftment 3AB-…
Cryptic Insertions Of The Immunoglobulin Light Chain Enhancer Region Near CCND1 In T(11;14)-Negative Mantle Cell Lymphoma
2019
Cyclin D1+ mantle cell lymphoma (MCL) is molecularly characterized by the t(11;14)(q13;q32) or rearrangements of CCND1 gene with the immunoglobulin (IG) light chains.1,2 Most MCL can be diagnosed based on the characteristic pathologic features and cyclin D1 expression without the need for demonstrating the genetic translocation. However, in cases with atypical morphologic or phenotypic features other B-cell neoplasms that sometimes also have cyclin D1 positivity may be in the differential diagnosis.1 In these situations the detection of the CCND1 rearrangements may assist in the diagnosis since most other lymphomas do not carry translocations of the gene.3-7 A subset of plasma cell myelomas…
Tenectin is a novel alphaPS2betaPS integrin ligand required for wing morphogenesis and male genital looping in Drosophila.
2010
International audience; Morphogenesis of the adult structures of holometabolous insects is regulated by ecdysteroids and juvenile hormones and involves cell-cell interactions mediated in part by the cell surface integrin receptors and their extracellular matrix (ECM) ligands. These adhesion molecules and their regulation by hormones are not well characterized. We describe the gene structure of a newly described ECM molecule, tenectin, and demonstrate that it is a hormonally regulated ECM protein required for proper morphogenesis of the adult wing and male genitalia. Tenectin's function as a new ligand of the PS2 integrins is demonstrated by both genetic interactions in the fly and by cell s…
Common variants in the HLA-DQ region confer susceptibility to idiopathic achalasia
2014
Idiopathic achalasia is characterized by a failure of the lower esophageal sphincter to relax due to a loss of neurons in the myenteric plexus(1,2). This ultimately leads to massive dilatation and an irreversibly impaired megaesophagus. We performed a genetic association study in 1,068 achalasia cases and 4,242 controls and fine-mapped a strong MHC association signal by imputing classical HLA haplotypes and amino acid polymorphisms. An eight-residue insertion at position 227-234 in the cytoplasmic tail of HLA-DQ beta 1 (encoded by HLA-DQB1*05:03 and HLA-DQB1*06:01) confers the strongest risk for achalasia (P = 1.73 x 10(-19)). In addition, two amino acid substitutions in the. extracellular …
The unobserved pattern of material hardship and health among older Americans
2019
This paper investigates the relationship between self-reported health and material hardship among older Americans. Differently from income-based measures, material hardship provides a more specific description of the concrete adversities faced by the elderly. We have used the last six waves of the Health and Retirement Study to explore the relative contributions of state dependence, unobserved heterogeneity and time-specific shocks on reporting poor health, experiencing food insecurity and medication cutbacks. We have used a Latent Markov model to estimate a multivariate non-linear system of equations for panel data allowing time-varying unobserved heterogeneity. Our results reveal a high s…