Abstract:
:Psoriasis is a common skin disease with a genetic background and significant human leukocyte antigen (HLA) associations. HLA-Cw6 is the most frequently described association, particularly with psoriasis of the early onset type. Few studies of its correlation with various psoriasis clinical phenotypes and severity of the disease have been published so far; none in the Polish population. In this study 78 patients with psoriasis vulgaris were evaluated clinically and subdivided according to the age of onset and the type of psoriasis. A system of disease severity evaluation was applied to each patient. All patients and the control group (70 unrelated persons) were typed for HLA-Cw*06. The results show that Cw*06 allele frequency was higher in psoriatics than in the control group. Our investigation confirms that the Cw*06 allele is positively associated with psoriasis vulgaris of the early onset type, with a positive family history and its more severe form.
journal_name
J Appl Genetjournal_title
Journal of applied geneticsauthors
Szczerkowska-Dobosz A,Rebała K,Szczerkowska Z,Witkowska-Toboła Asubject
Has Abstractpub_date
2004-01-01 00:00:00pages
473-6issue
4eissn
1234-1983issn
2190-3883pii
238journal_volume
45pub_type
杂志文章abstract::The type-B authentic response regulators (ARR-Bs) function as positive regulators of cytokinin signal transduction and play important roles in abiotic stress resistance and plant development. However, little of ARR-B family is known in tomato. In this study, we performed a comprehensive analysis of ARR-B family factor...
journal_title:Journal of applied genetics
pub_type: 杂志文章
doi:10.1007/s13353-020-00565-5
更新日期:2020-09-01 00:00:00
abstract::The antibiotic doxycycline is used as an inducer of recombinase (cre)-based conditional gene knockout in mice, which is a common tool to show the effect of disrupted gene functions only in one period of a research animal's life. However, other types of such antibiotics have been shown to have a strong impact on the im...
journal_title:Journal of applied genetics
pub_type: 杂志文章
doi:10.1007/s13353-017-0401-x
更新日期:2017-11-01 00:00:00
abstract::In this work, a seed-set-based screening was performed on 70 lines of Arabidopsis thaliana after activation tagging mutagenesis to identify mutations in reproductive mechanisms. Five mutants showed significantly lower seed set than the wild type and confirmed the phenotype in the progeny. This phenotype was linked wit...
journal_title:Journal of applied genetics
pub_type: 杂志文章
doi:10.1007/BF03194608
更新日期:2006-01-01 00:00:00
abstract::Recent evidence indicates an important role of inflammation pathways, airways remodeling and epithelium activation in asthma genetics. In particular, transcriptome studies have detected differentially expressed genes involved in eosinophil apoptosis, the arginase pathway, response to allergens or interleukins, and to ...
journal_title:Journal of applied genetics
pub_type: 杂志文章,评审
doi:
更新日期:2005-01-01 00:00:00
abstract::The mechanisms of root hair formation have been studied extensively in Arabidopsis but knowledge about these processes in monocot species is still limited, especially in relation to the proteome level. The aim of this study was to identify the proteins that are involved in the initiation and the early stage of root ha...
journal_title:Journal of applied genetics
pub_type: 杂志文章
doi:10.1007/s13353-012-0105-1
更新日期:2012-11-01 00:00:00
abstract::The mode of replication and organisation of bacterial genomes impose asymmetry on their nucleotide composition. The asymmetry is seen in coding and non-coding sequences and is reflected in the amino acid composition of proteins. The mechanisms generating asymmetry include: unequal mutation rates connected with replica...
journal_title:Journal of applied genetics
pub_type: 杂志文章
doi:
更新日期:2001-01-01 00:00:00
abstract::The Rpi-phu1 gene originates from an interspecific hybrid between Solanum stenotomum and S. phureja, and confers a high level of resistance to Phytophthora infestans (late blight) in potato. The Rpi-phu1 was introduced by crossing at the diploid level into the S. tuberosum gene pool and then transferred to the tetrapl...
journal_title:Journal of applied genetics
pub_type: 杂志文章
doi:10.1007/BF03195721
更新日期:2010-01-01 00:00:00
abstract::Deoxyguanosine kinase deficiency (dGK) is a frequent cause of the hepatocerebral form of mitochondrial depletion syndrome (MDS). A group of 28 infants with severe progressive liver failure of unknown cause was recruited for post mortem search for deoxyguanosine kinase (DGUOK) gene mutations. Four affected patients (14...
journal_title:Journal of applied genetics
pub_type: 杂志文章
doi:10.1007/s13353-010-0008-y
更新日期:2011-02-01 00:00:00
abstract::A moderate genotoxic activity of halothane and isoflurane applied as volatile anaesthetics has already been shown. The aim of this work was to estimate a potential genotoxicity of sevoflurane, introduced to clinical practice later than halothane and isoflurane. A genotoxic activity of all three compounds was estimated...
journal_title:Journal of applied genetics
pub_type: 杂志文章
doi:
更新日期:2004-01-01 00:00:00
abstract::RNA/DNA hybrid duplexes regularly occur in nature, for example in transcriptional R loops. Their susceptibility to modification by DNA-specific or RNA-specific enzymes is, thus, a biologically relevant question, which, in addition, has possible biotechnological implications. In this study, we investigated the activity...
journal_title:Journal of applied genetics
pub_type: 杂志文章
doi:10.1007/s13353-015-0279-4
更新日期:2015-11-01 00:00:00
abstract::Some changes in chromosome morphology, detected during cytogenetic analysis, are not associated with clinical defects. Therefore a proper discrimination of harmless variants from true abnormalities, especially during prenatal diagnosis, is crucial to allow precise counseling. In this review we described chromosome var...
journal_title:Journal of applied genetics
pub_type: 杂志文章,评审
doi:10.1007/BF03194674
更新日期:2007-01-01 00:00:00
abstract::Wild relatives, landraces and cultivars from different geographical regions have been demonstrated as the sources of genetic variation for resistance to rust diseases. This study involved assessment of diversity for resistance to three rust diseases among a set of Nordic spring wheat cultivars. These cultivars were te...
journal_title:Journal of applied genetics
pub_type: 杂志文章
doi:10.1007/s13353-016-0345-6
更新日期:2016-11-01 00:00:00
abstract::The study aimed at development of a multiplex PCR system for amplification of three Y-chromosome STR loci: DYS390, DYS392 and DYS393, and its application in haplotype polymorphism analysis in the population of northern Poland. Due to interactions between originally published primers, a new DYS392 primer pair was propo...
journal_title:Journal of applied genetics
pub_type: 杂志文章
doi:
更新日期:2003-01-01 00:00:00
abstract::The long QT syndrome (LQTS) is an inherited cardiac arrhythmia that may lead to sudden death in the absence of structural heart disease. Mutations in the cardiac potassium and sodium channel genes can be found in approximately 70 percent of patients with a highly probable clinical diagnosis. In this study, we aimed to...
journal_title:Journal of applied genetics
pub_type: 杂志文章
doi:10.1007/BF03208882
更新日期:2010-01-01 00:00:00
abstract::Starting from two datasets of codon usage in coding sequences from mesophilic and thermophilic bacteria, we used internal correspondence analysis to study the variability of codon usage within and between species, and within and between amino acids. The first dataset included 18,958,458 codons from 58,482 coding seque...
journal_title:Journal of applied genetics
pub_type: 杂志文章
doi:
更新日期:2003-01-01 00:00:00
abstract::Cornelia de Lange syndrome (CdLS) is a rare multi-system genetic disorder characterised by growth and developmental delay, distinctive facial dysmorphism, limb malformations and multiple organ defects. The disease is caused by mutations in genes responsible for the formation and regulation of cohesin complex. About ha...
journal_title:Journal of applied genetics
pub_type: 杂志文章
doi:10.1007/s13353-012-0126-9
更新日期:2013-02-01 00:00:00
abstract::Streptomycin-resistant mutants were isolated from mutagenised cotyledon explants of Capsicum praetermissum Heiser & Smith. The explants were mutagenised with N-ethyl-N-nitrosourea, which resulted in a high frequency of streptomycin-resistant mutants (18.0%) and a low frequency of chlorophyll-deficient (albino) mutants...
journal_title:Journal of applied genetics
pub_type: 杂志文章
doi:
更新日期:2005-01-01 00:00:00
abstract::The aim of this study was to assess the frequencies of three hemochromatosis gene (HFE) mutations in ethnic Roma/Gypsies in Slovakia. A cohort of 367 individuals representing general population and not preselected for health status was genotyped by TaqMan real-time PCR assay for C282Y, H63D and S65C mutations in HFE g...
journal_title:Journal of applied genetics
pub_type: 杂志文章
doi:10.1007/s13353-012-0088-y
更新日期:2012-05-01 00:00:00
abstract::Chromosome pairing in tetraploid Secalotriticum was analysed. In the studied plants wheat chromosomes in PMCs during metaphase I showed a higher degree of pairing, in comparison to the rye genome. This is reflected in a very low frequency of univalents and a higher frequency of ring bivalents. The occurrence of wheat ...
journal_title:Journal of applied genetics
pub_type: 杂志文章
doi:
更新日期:2003-01-01 00:00:00
abstract::Differentiated thyroid cancer (DTC) has one of the lowest cancer mutational burdens, while anaplastic thyroid cancer (ATC) has a much higher mutation frequency. A fraction of ATC has an associated differentiated component, which suggests the coevolution of both cancers. Here, we aimed to compare mutation frequency in ...
journal_title:Journal of applied genetics
pub_type: 杂志文章
doi:10.1007/s13353-020-00594-0
更新日期:2021-02-01 00:00:00
abstract::Population biobanks offer new opportunities for public health, are rudimentary for the development of its new branch called Public Health Genomics, and are important for translational research. This article presents organizational models of population biobanks in selected European countries. Review of bibliography and...
journal_title:Journal of applied genetics
pub_type: 杂志文章
doi:10.1007/s13353-012-0082-4
更新日期:2012-05-01 00:00:00
abstract::Genetic relationships among 20 elite wheat genotypes were studied using microsatellite markers and pedigree analysis. A total of 93 polymorphic bands were obtained with 25 microsatellite primer pairs. Coefficient of parentage (COP) values were calculated using parentage information at the expansion level of 5. The ped...
journal_title:Journal of applied genetics
pub_type: 杂志文章
doi:
更新日期:2005-01-01 00:00:00
abstract::Kernel size and morphology influence the market value and milling yield of bread wheat (Triticum aestivum L.). The objective of this study was to identify quantitative trait loci (QTLs) controlling kernel traits in hexaploid wheat. We recorded 1000-kernel weight, kernel length, and kernel width for 185 recombinant inb...
journal_title:Journal of applied genetics
pub_type: 杂志文章
doi:10.1007/BF03208872
更新日期:2010-01-01 00:00:00
abstract::Treacher Collins syndrome (TCS) is associated with an abnormal differentiation of the first and second pharyngeal arches during fetal development. This causes mostly craniofacial deformities, which require numerous corrective surgeries. TCS is an autosomal dominant disorder and it occurs in the general population at a...
journal_title:Journal of applied genetics
pub_type: 杂志文章
doi:10.1007/s13353-012-0091-3
更新日期:2012-08-01 00:00:00
abstract::This study aimed to determine the frequency of associated urological abnormalities in children with unilateral renal agenesis (RA) or multicystic dysplastic kidney (MCDK). In total, 38 children (10 girls, 28 boys) were studied: 21 with RA and 17 with MCDK. In 14 children (37%) anomalies of the urinary tract were suspe...
journal_title:Journal of applied genetics
pub_type: 杂志文章
doi:10.1007/BF03194618
更新日期:2006-01-01 00:00:00
abstract::Hybrids derived from wheat (Triticum aestivum L.) × rye (Secale cereale L.) have been widely studied because of their important roles in wheat cultivar improvement. Repetitive sequences pAs1, pSc119.2, pTa-535, pTa71, CCS1, and pAWRC.1 are usually used as probes in fluorescence in situ hybridization (FISH) analysis of...
journal_title:Journal of applied genetics
pub_type: 杂志文章
doi:10.1007/s13353-014-0215-z
更新日期:2014-08-01 00:00:00
abstract::To date, only two splice-site mutations within the TPM2 gene have been shown to be causative for congenital myopathies. While the majority of TPM2 gene mutations are causative for nemaline myopathy, cap disease or distal arthrogryposis, some mutations in this gene have been found to be associated with non-specific con...
journal_title:Journal of applied genetics
pub_type: 杂志文章
doi:10.1007/s13353-016-0368-z
更新日期:2017-05-01 00:00:00
abstract::The distinctness, uniformity and stability (DUS) requirements involve expensive, space- and time-consuming measurements of morphological traits. Moreover, for a majority of traits, interactions between genotype and environment complicate the evaluation. Molecular markers have a potential to facilitate this procedure, ...
journal_title:Journal of applied genetics
pub_type: 杂志文章
doi:10.1007/BF03195609
更新日期:2008-01-01 00:00:00
abstract::This review presents the basic problems and currently available molecular techniques used for genetic profiling in disaster victim identification (DVI). The environmental conditions of a mass disaster often result in severe fragmentation, decomposition and intermixing of the remains of victims. In such cases, traditio...
journal_title:Journal of applied genetics
pub_type: 杂志文章,评审
doi:10.1007/s13353-011-0068-7
更新日期:2012-02-01 00:00:00
abstract::The aim of this study was to evaluate phenotypic variation of R0 androgenic plants obtained from four seed sources and donor plants by anther culture. Several morphological traits (leaf size, petiole length, leaf division, cortex colour) and the range of diversity were evaluated. There was large variation in all trait...
journal_title:Journal of applied genetics
pub_type: 杂志文章
doi:
更新日期:2002-01-01 00:00:00