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 inhaled corticosteroids. Candidate gene and genome wide studies have localized genetic regions involved in the disease, such as the A1AR and CLCA1 genes (chromosome 1), IL-1RN and DPP10 (2q14), HLA-G and TNF-a (6p21), GPRA (7p14), FceRI and GSTP1 (11q13), NOS1, IFNG, STAT6, VDR, and other genes (12q13-26), PHF11 and flanking genes (13q14), AACT and PTGDR (14q), and ADAM33 (20p13). The role of these and other genetic determinants has to be confirmed in future, preferably longitudinal, studies.
journal_name
J Appl Genetjournal_title
Journal of applied geneticsauthors
Malerba G,Pignatti PFsubject
Has Abstractpub_date
2005-01-01 00:00:00pages
93-104issue
1eissn
1234-1983issn
2190-3883pii
253journal_volume
46pub_type
杂志文章,评审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::The insulin-like growth factor 2 gene (IGF2) has been described in several studies as a candidate gene for meat efficiency in pigs. IGF2 is a member of the growth factors family and has an effect on development of muscle tissue. The effect of IGF2 gene polymorphism on meat efficiency was analysed in a population of 12...
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 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
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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::Porcine pregnancy-associated glycoprotein genes (pPAG) are known as a multigene family, in which five members have been cloned and sequences of their cDNAs identified. Porcine PAG1 and pPAG3 genes, belonging to the pPAG1-like subfamily, both encode enzymatically inactive precursors. In contrast, cDNAs of pPAG2, pPAG4 ...
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 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::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::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::Atherosclerosis is the most common cause of death globally. It is a complex disease involving morphological and cellular changes in vascular walls. Studying molecular mechanism of the disease is hindered by disease complexity and lack of robust noninvasive diagnostics in human. Mouse models are the most popular animal...
journal_title:Journal of applied genetics
pub_type: 杂志文章,评审
doi:10.1007/s13353-013-0134-4
更新日期:2013-05-01 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::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::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::Winter wheat cultivars Aquileja (AQ) and Xian Nong 4(XN) were previously reported to possess durable, quantitative resistance to stripe rust disease. In the present study, AQ, XN and a susceptible wheat cultivar were reciprocally crossed in all 6 combinations. Parents, F1, F2, F3, BCP1 and BCP2 were used to determine ...
journal_title:Journal of applied genetics
pub_type: 杂志文章
doi:10.1007/BF03194656
更新日期:2007-01-01 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::The long QT syndrome (LQTS) is a disorder of ventricular repolarization that exposes affected individuals to cardiac arrhythmias and sudden death. The first gene for LQTS has been mapped to chromosome 11 p.15.5 by genome-wide linkage analysis. This gene, originally named KVLQT1 (and later KCNQ1), is a novel potassium ...
journal_title:Journal of applied genetics
pub_type: 杂志文章
doi:
更新日期:2002-01-01 00:00:00
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::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::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
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::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::Pre-harvest sprouting (PHS) and seed longevity (SL) are complex biological processes of major importance for agricultural production. In the present study, a recombinant inbred line (RIL) population derived from a cross between the German winter wheat (Triticum aestivum L.) cultivars History and Rubens was used to ide...
journal_title:Journal of applied genetics
pub_type: 杂志文章
doi:10.1007/s13353-017-0422-5
更新日期:2018-02-01 00:00:00
abstract::Quantitative genetic analysis was performed on 10,919 data records collected over three generations from the selection programme for increased body weight at harvest in red tilapia (Oreochromis spp.). They were offspring of 224 sires and 226 dams (50 sires and 60 dams per generation, on average). Linear mixed models w...
journal_title:Journal of applied genetics
pub_type: 杂志文章
doi:10.1007/s13353-017-0411-8
更新日期:2017-11-01 00:00:00
abstract::The contractile protein troponin I (TnI), a constituent protein of the troponin complex located on the thin filaments of striated muscle, is involved in inhibition of calcium-induced myosin ATPase activity (and thus contraction). TnI-slow (slow-twitch skeletal muscle isoform, named TNNI1) and TnI-fast (fast-twitch ske...
journal_title:Journal of applied genetics
pub_type: 杂志文章
doi:10.1007/BF03195710
更新日期:2010-01-01 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::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::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::In this study a wide range of genetic markers (12 microsatellites, 7 blood-group loci, 10 blood-protein loci) and mitochondrial DNA (mtDNA) were used to assess genetic diversity in Polish Heavy horses. Three random samples were sequenced for 421 bp of the mitochondrial D-loop region, but no clear phylogenetic patterns...
journal_title:Journal of applied genetics
pub_type: 杂志文章
doi:10.1007/BF03194645
更新日期:2006-01-01 00:00:00
abstract::The matrix metalloproteinase-2 gene (MMP2) was found to be associated with hip structure in pigs. Recently three quantitative trait loci (QTLs) for loin muscle area were found on chromosome 6, to which MMP2 was mapped. In the present study, association analyses were conducted in two pig populations for a single-nucleo...
journal_title:Journal of applied genetics
pub_type: 杂志文章
doi:10.1007/BF03195679
更新日期:2009-01-01 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::The introduction of non-native crayfish in aquatic ecosystems is very common due to human activities (e.g. aquaculture, recreational and commercial fisheries). The signal crayfish, Pacifastacus leniusculus (Dana, 1852), is one of the most widespread invasive species in Europe. Although several important ecological and...
journal_title:Journal of applied genetics
pub_type: 杂志文章
doi:10.1007/s13353-015-0272-y
更新日期:2015-08-01 00:00:00