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ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients.

Congenital disorders of glycosylation (CDG) arise from pathogenic mutations in over one hundred genes leading to impaired protein or lipid glycosylation. ALG1 encodes a β1,4 mannosyltransferase that catalyzes the addition of the first of nine mannose moieties to form a dolichol-lipid linked oligosaccharide intermediate (DLO) required for proper N-linked glycosylation. ALG1 mutations cause a rare a

Flexibility and packing in proteins

Structural flexibility is an essential attribute, without which few proteins could carry out their biological functions. Much information about protein flexibility has come from x-ray crystallography, in the form of atomic mean-square displacements (AMSDs) or B factors. Profiles showing the AMSD variation along the polypeptide chain are usually interpreted in dynamical terms but are ultimately gov

Finemapping of the arthritis QTL Pia7 reveals co-localization with Oia2 and the APLEC locus.

In this study, we sought to determine the effect of the quantitative trait locus Pia7 on arthritis severity. The regulatory locus derived from the arthritis-resistant E3 rat strain was introgressed into the arthritis-susceptibility DA strain through continuous backcrossing. Congenic rats were studied for their susceptibility to experimental arthritis using pristane and adjuvant oil. In addition, c

Mitochondrial DNA polymorphisms are associated with susceptibility and phenotype of systemic lupus erythematosus.

The objective of this study was to investigate the possible association between mitochondrial DNA polymorphisms and systemic lupus erythematosus (SLE). A cohort from the Department of Rheumatology, Lund University Hospital, Sweden, consisting of 166 unrelated SLE patients was investigated as well as 190 unrelated healthy blood donors. Mean age at SLE diagnosis was 39 years (range 10-83) and mean f

Expression of somatostatin receptor subtypes 2 and 4 in human benign prostatic hyperplasia and prostatic cancer.

BACKGROUND: The presence of receptor subtypes for the inhibitory peptide somatostatin in prostatic tissue has been a controversial issue with conflicting reports. To elucidate whether prostatic epithelial cells express mRNA for somatostatin receptor (SSTR) subtype 2 and 4, we have investigated the localization of SSTR2 and SSTR4 transcripts in prostatic tissues by in situ hybridization. METHODS: N

Effectiveness of ciprofloxacin or linezolid in combination with rifampicin against Enterococcus faecalis in biofilms.

ObjectivesTo assess the in vitro antibiotic susceptibility of Enterococcus faecalis in biofilms.MethodsE. faecalis isolates were from infections of prosthetic hip and knee joints. Minimal biofilm eradication concentrations (MBECs) for ampicillin, vancomycin, linezolid, ciprofloxacin and rifampicin, alone and in combinations, were determined. E. faecalis biofilms in microtitre plate wells or on bea

Insulin secretion is highly sensitive to desorption of plasma membrane cholesterol.

Cholesterol-rich clusters of SNARE (soluble NSF attachment protein receptor) proteins have been implicated as being important for exocytosis. Here we demonstrate the significance of cholesterol for normal biphasic insulin secretion in mouse beta cells by removal of cholesterol from the plasma membrane using methyl-beta-cyclodextrin (MBCD). Maximal inhibition of insulin secretion in static incubati

The Highest Force Hypothesis : Subordination in Swedish

This study discusses subordination in Swedish from the perspective of three construction types that involve clauses that have traditionally been difficult to classify as unambiguous main or subordinate clauses: “embedded V2”-constructions, direct speech constructions, and exclamatives. A general hypothesis regarding subordination and "superordination” is proposed: The Highest Force Hypothesis. The

CD44/CD70 blockade and anti-CD154/LFA-1 treatment synergistically suppress accelerated rejection and prolong cardiac allograft survival in mice.

Current treatments that are efficient in controlling effector T cells responses to allografts have limited efficacy on the accelerated rejection mediated by memory T cells. Effective targeting of alloreactive memory T cells may therefore be explored to improve therapeutic approaches towards solving this problem. In this study, we investigated the synergistic effect of CD44/CD70 blockade and anti-C

Aspects of Morphological and Stylistic Variation of the Verb in Erotokritos

Popular Abstract in Swedish Ämnet för avhandlingen är verbets morfologiska och stilistiska variation i den grekiska versromanen Erotokritos, ett av de främsta exemplen på den kretensiska renässansdiktningen. Undersökningen utgår från de i dikten förekommande verbformernas morfologiska variation, både vad avser stammar, ändelser och augment. Undersökningen koncentreras på de imperfektiva verbformerThe aim of the present study is to examine the polytypia (morphological variation) and semantic differentiations of the verb in Vitsentzos Kornaros' Erotokritos, to understand how these shape poetic style. We examine the stems and the endings in the imperfective active forms. Moreover, we investigate the augmented forms because at an early stage we found that Kornaros employs a degree of poetic li

When do adolescents become smokers?

Objective. To follow the development of a class of pupils' tobacco habits for seven years, and to study differences in tobacco use between girls and boys. Setting. Kronoberg County in southern Sweden. Subjects. All the approximately 2000 pupils were followed from approximately age 12 to approximately age 18. Design. Yearly cross-sectional surveys from 1994 to 2000. Each year, the pupils filled in

Gene-environment interaction and male reproductive function.

As genetic factors can hardly explain the changes taking place during short time spans, environmental and lifestyle-related factors have been suggested as the causes of time-related deterioration of male reproductive function. However, considering the strong heterogeneity of male fecundity between and within populations, genetic variants might be important determinants of the individual susceptibi

Cell-specific and divergent roles of the CD40L-CD40 axis in atherosclerotic vascular disease

Atherosclerosis is a major underlying cause of cardiovascular disease. Previous studies showed that inhibition of the co-stimulatory CD40 ligand (CD40L)-CD40 signaling axis profoundly attenuates atherosclerosis. As CD40L exerts multiple functions depending on the cell-cell interactions involved, we sought to investigate the function of the most relevant CD40L-expressing cell types in atheroscleros

Broadly Active Antiviral Compounds Disturb Zika Virus Progeny Release Rescuing Virus-Induced Toxicity in Brain Organoids

RNA viruses have gained plenty of attention during recent outbreaks of Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), Zika virus (ZIKV), and Ebola virus. ZIKV is a vector borne Flavivirus that is spread by mosquitoes and it mainly infects neuronal progenitor cells. One hallmark of congenital ZIKV disease is a reduced brain size in fetuses, leading to severe neurological defects. The

Perspectives on interstitial photodynamic therapy for malignant tumors

Significance: Despite remarkable advances in the core modalities used in combating cancer, malignant diseases remain the second largest cause of death globally. Interstitial photodynamic therapy (IPDT) has emerged as an alternative approach for the treatment of solid tumors. Aim: The aim of our study is to outline the advancements in IPDT in recent years and provide our vision for the inclusion of

A thermodynamic model of protein structure evolution explains empirical amino acid substitution matrices

Proteins evolve under a myriad of biophysical selection pressures that collectively control the patterns of amino acid substitutions. These evolutionary pressures are sufficiently consistent over time and across protein families to produce substitution patterns, summarized in global amino acid substitution matrices such as BLOSUM, JTT, WAG, and LG, which can be used to successfully detect homologs