Abstract:
:This article reviews and updates current information on the possible genetic basis for cutaneous lupus erythematosus. The aetiology of this condition remains unknown and is believed to be multifactorial, involving genetic, environmental and retroviral factors. A genetic predisposition is probably the greatest risk factor for this condition. Individual susceptibility to lupus erythematosus may be determined by a combination of specific polymorphisms of genes encoding multiple cytokines, adhesion molecules, and cellular proteins. This condition may lead to an abnormal expression of immunoregulatory molecules and finally results in the development or exacerbation of the disease. Recently also the role of endogenous retroviral sequences in the pathogenesis of autoimmunity has been discussed.
journal_name
J Appl Genetjournal_title
Journal of applied geneticsauthors
Osmola A,Namysł J,Jagodziński PP,Prokop Jsubject
Has Abstractpub_date
2004-01-01 00:00:00pages
77-86issue
1eissn
1234-1983issn
2190-3883pii
186journal_volume
45pub_type
杂志文章,评审abstract::Genetic diversity among 35 rice accessions, which included 19 landraces, 9 cultivars and 7 wild relatives, was investigated by using microsatellite (SSR) markers distributed across the rice genome. The mean number of alleles per locus was 4.86, showing 95.2% polymorphism and an average polymorphism information content...
journal_title:Journal of applied genetics
pub_type: 杂志文章
doi:10.1007/BF03195230
更新日期:2007-01-01 00:00:00
abstract::Myostatin (GDF-8) is a key protein responsible for skeletal muscle growth and development, thus mutations in the mstn gene can have major economic and breeding consequences. The aim of the present study was to investigate myostatin gene expression and transcriptional profile in skeletal muscle of Holstein-Friesian (Bl...
journal_title:Journal of applied genetics
pub_type: 杂志文章
doi:10.1007/BF03195620
更新日期:2008-01-01 00:00:00
abstract::Single-nucleotide polymorphisms in genes involved in DNA-damage-induced responses are reported frequently to be a risk factor in various cancer types. Here we analysed polymorphisms in 5 genes involved in DNA repair (XPD Asp312Asn and Lys751Gln, XRCC1 Arg399Gln, APE1 Asp148Glu, NBS1 Glu185Gln, and XPA G-4A) and in a g...
journal_title:Journal of applied genetics
pub_type: 杂志文章
doi:10.1007/BF03208865
更新日期:2010-01-01 00:00:00
abstract::Group-1 homoelog genes in wheat genomes encode storage proteins and are the major determinants of wheat product properties. Consequently, understanding the genetic diversity of group-1 homoelogs and genes encoding storage proteins, especially the low-molecular-weight glutenins (LMW-GSs), within wheat landrace genomes ...
journal_title:Journal of applied genetics
pub_type: 杂志文章
doi:10.1007/s13353-020-00564-6
更新日期:2020-09-01 00:00:00
abstract::A rye doubled haploid (DH) mapping population (Amilo × Voima) segregating for pre-harvest sprouting (PHS) was generated through anther culture of F(1) plants. A linkage map was constructed using DHs, to our knowledge, for the first time in rye. The map was composed of 289 loci: amplified fragment length polymorphism (...
journal_title:Journal of applied genetics
pub_type: 杂志文章
doi:10.1007/s13353-011-0029-1
更新日期:2011-08-01 00:00:00
abstract::Mutagenicity refers to the induction of permanent changes in the DNA sequence of an organism, which may result in a heritable change in the characteristics of living systems. Antimutagenic agents are able to counteract the effects of mutagens. This group of agents includes both natural and synthetic compounds. Based o...
journal_title:Journal of applied genetics
pub_type: 杂志文章,评审
doi:10.1007/s13353-014-0198-9
更新日期:2014-05-01 00:00:00
abstract::We report on a de novo interstitial deletion of (6)(q15q22.2) in a 5-year-old boy with developmental delay, microcephaly, facial dysmorphism, cryptorchidism, congenital heart defect, and split-hand malformation. Previous reports and this patient suggest that 6q21 may contain a gene or genes related either directly or ...
journal_title:Journal of applied genetics
pub_type: 杂志文章
doi:10.1007/BF03195240
更新日期:2007-01-01 00:00:00
abstract::In this study we have developed protocols for induced triploidy and gynogenesis of Senegalese sole (Solea senegalensis), a promising flatfish species for marine aquaculture, in order to: 1) identify the sex-determination mechanism; and 2) to improve its production by generating a) sterile fish, avoiding problems relat...
journal_title:Journal of applied genetics
pub_type: 杂志文章
doi:10.1007/s13353-014-0233-x
更新日期:2015-02-01 00:00:00
abstract::Establishing translocated populations is a common process to preserve and maintain genetic diversity of threatened species. In 2001, three translocated populations of noble crayfish (Astacus astacus) were established in the Czech Republic, founded by either adult or juvenile individuals from three particular source po...
journal_title:Journal of applied genetics
pub_type: 杂志文章
doi:10.1007/s13353-015-0296-3
更新日期:2016-02-01 00:00:00
abstract::Hemp (Cannabis sativa L.) is a species considered as having one of the most complicated mechanisms of sex determination. Peroxidase and esterase isoenzymes in leaves of the two sexual phenotypes of hemp were studied. Significant differences in isoperoxidase and isoesterase patterns were found between male and female p...
journal_title:Journal of applied genetics
pub_type: 杂志文章
doi:
更新日期:2002-01-01 00:00:00
abstract::Selective DNA pooling is an advanced methodology for linkage mapping of quantitative trait loci (QTL) in farm animals. The principle is based on densitometric estimates of marker allele frequency in pooled DNA samples of phenotypically extreme individuals from half-sib, backcross and F(2) experimental designs in farm ...
journal_title:Journal of applied genetics
pub_type: 杂志文章,评审
doi:
更新日期:2002-01-01 00:00:00
abstract::Recently, leaf rust and yellow rust caused by the fungi Puccinia triticina Erikss. and P. striiformis Westend f. sp. tritici Eriks and Henn are diseases of increasing threat in triticale (× Triticosecale Wittmack, AABBRR, 2n = 6x = 42) growing areas. The use of genetic resistance is considered the most economical, eff...
journal_title:Journal of applied genetics
pub_type: 杂志文章
doi:10.1007/s13353-020-00562-8
更新日期:2020-09-01 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::Myogenic factor 5 (myf-5) is the product of the MYF5 gene, belonging to the MyoD family. This transcription factor participates in the control of myogenesis. We identified 3 new mutations in the promoter region of the gene: A65C, C580T and C613T. The aim of this study was to evaluate the influence of the A65C transver...
journal_title:Journal of applied genetics
pub_type: 杂志文章
doi:10.1007/BF03194600
更新日期:2006-01-01 00:00:00
abstract::The aim of these studies was to characterize nucleotide substitutions leading to the phenotype of brassinosteroid-insensitive, semi-dwarf barley mutant 093AR. Two substitutions in the sequence of barley HvBRI1 gene, encoding leucine-rich repeats receptor kinase (LRR-RK), which participates in brassinosteroid (BR) sign...
journal_title:Journal of applied genetics
pub_type: 杂志文章
doi:10.1007/s13353-011-0031-7
更新日期:2011-08-01 00:00:00
abstract::SDS-PAGE analysis of seed globulins covered 200 accessions of the following Lens taxa: L. culinaris subsp. culinaris, L. culinaris subsp. orientalis, L. odemensis, L. ervoides, L. nigricans, L. lamottei and L. tomentosus. The number of polypeptide bands detected in particular taxa varied from 22 in L. lamottei to 35 i...
journal_title:Journal of applied genetics
pub_type: 杂志文章
doi:
更新日期:2001-01-01 00:00:00
abstract::Pollen proteases were discovered over 100 years ago, whereas the enzymes from female tissues have been used since the Roman era in simple biotechnological processes. In the last decade a great progress has been made in studies on plant proteases, including those from the generative organs. This paper reviews reports p...
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::Functional lox-like sequences have been identified within the yeast and mammalian genome. These hetero-specific lox sites also allow Cre recombinase to specifically target efficient integration of exogenous DNA into the endogenous pseudo-lox (ψlox) sequences that occur naturally in the host genome using a Cre/loxP int...
journal_title:Journal of applied genetics
pub_type: 杂志文章
doi:10.1007/s13353-010-0011-3
更新日期:2011-02-01 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
abstract::Fluorescent in situ hybridization (FISH) was performed in 76 patients referred to our department because of intellectual disability and dysmorphic features that can be related to subtelomeric microaberrations. In all the patients, conventional cytogenetic methods revealed normal karyotype. Four (5.3%) subtelomeric rea...
journal_title:Journal of applied genetics
pub_type: 杂志文章
doi:10.1007/BF03195731
更新日期:2010-01-01 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::Phenylketonuria (PKU) is a metabolic disease caused by mutations in the phenylalanine hydroxylase (PAH) gene. Although the PAH genotype remains the main determinant of PKU phenotype severity, genotype-phenotype inconsistencies have been reported. In this study, we focused on unanalysed sequences in non-coding PAH gene...
journal_title:Journal of applied genetics
pub_type: 杂志文章
doi:10.1007/s13353-016-0359-0
更新日期:2017-02-01 00:00:00
abstract::Interspecific amphihaploid and amphidiploid hybrids between Nicotiana glauca Grah. (2n = 24) and N. tabacum L. (2n = 48) cultivars BY 103 and K 326 were analysed. F1 amphihaploids (2n = 36) were viable and completely self- and cross-sterile, and mostly univalents were present during meiosis (with pairing range from 0 ...
journal_title:Journal of applied genetics
pub_type: 杂志文章
doi:
更新日期:2003-01-01 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::In recent years, the emphasis of theoretical work on phylogenetic inference has shifted from the development of new tree inference methods to the development of methods to measure the statistical support for the topologies. This paper reviews 3 approaches to assign support values to branches in trees obtained in the a...
journal_title:Journal of applied genetics
pub_type: 杂志文章,评审
doi:10.1007/BF03195249
更新日期:2008-01-01 00:00:00
abstract::Interleukin-15 (IL-15) is a cytokine that has been proposed to modulate skeletal muscle and adipose tissue mass. In the present study, an F(2) resource population of Gushi chickens crossed with Anka broilers was used to investigate the genetic effects of the chicken IL-15 gene. Two single nucleotide polymorphisms (SNP...
journal_title:Journal of applied genetics
pub_type: 杂志文章
doi:10.1007/s13353-012-0111-3
更新日期:2012-11-01 00:00:00
abstract::Relationship coefficients are particularly useful to improve genetic management of endangered populations. These coefficients are traditionally based on pedigree data, but in case of incomplete or inexistent pedigrees they are replaced by coefficients calculated from molecular data. The main objective of this study wa...
journal_title:Journal of applied genetics
pub_type: 杂志文章
doi:10.1007/BF03195664
更新日期:2009-01-01 00:00:00
abstract::The number of functional teats is an important selection criterion in pig breeding. Inherited defects of the udder, such as the inverted teat, do have a considerable negative impact on the nursing ability of the sow. To investigate the genetic background of this defect and the number of functional teats in Swedish mat...
journal_title:Journal of applied genetics
pub_type: 杂志文章
doi:10.1007/s13353-016-0382-1
更新日期:2017-05-01 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::Oil palm (Elaeis guineensis Jacq.) is an outbreeding perennial tree crop with long breeding cycles, typically 12 years. Molecular marker technologies can greatly improve the breeding efficiency of oil palm. This study reports the first use of the DArTseq platform to genotype two closely related self-pollinated oil pal...
journal_title:Journal of applied genetics
pub_type: 杂志文章
doi:10.1007/s13353-017-0420-7
更新日期:2018-02-01 00:00:00