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

authors： Słoczyńska K,Powroźnik B,Pękala E,Waszkielewicz AM

更新日期：2014-05-01 00:00:00

abstract：:The aim of the present work was to study chromosomal polymorphism within cultivated barley (Hordeum vulgare ssp. vulgare) using three-color fluorescence in situ hybridization (FISH). The physical distribution of the most frequently used, highly repetitive DNA sequences (GAA)7 specific for pericentromeric heterochromat...

journal_title：Journal of applied genetics

authors： Szakács É,Kruppa K,Molnár-Láng M

更新日期：2013-11-01 00:00:00

abstract：:The glyceraldehyde-3-phosphate dehydrogenase promoter of the food yeast Candida utilis strain NRRL Y-660 was cloned to create a novel integrative vector for Agrobacterium tumefaciens-mediated transformation. The new binary vector harbors β-glucuronidase activity as reporter and kanamicin/geneticin resistance as select...

journal_title：Journal of applied genetics

authors： González T,Eng F,Fraga R,Fonseca J,Amores I

更新日期：2013-11-01 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

authors： Mukhopadhyay R

更新日期：2013-05-01 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

authors： Kuzniacka A,Wierzba J,Ratajska M,Lipska BS,Koczkowska M,Malinowska M,Limon J

更新日期：2013-02-01 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

authors： Janiak A,Piórko S,Matros A,Mock HP,Kwaśniewski M,Chwiałkowska K,Chmielewska B,Szarejko I

更新日期：2012-11-01 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

authors： Lv SJ,Su L,Li H,Han RL,Sun GR,Kang XT

更新日期：2012-11-01 00:00:00

abstract：:Polymorphisms in the coding region of the prion protein gene (PRNP) have been associated with the susceptibility and incubation period of prion diseases in humans and sheep. However, polymorphisms in this part of the bovine PRNP gene do not affect the classical bovine spongiform encephalopathy (BSE) susceptibility in ...

journal_title：Journal of applied genetics

authors： Gurgul A,Polak MP,Larska M,Słota E

更新日期：2012-08-01 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

authors： Marszałek-Kruk BA,Wójcicki P,Smigiel R,Trzeciak WH

更新日期：2012-08-01 00:00:00

abstract：:Powdery mildew is a prevalent fungal disease affecting oat (Avena sativa L.) production in Europe. Common oat cultivar Rollo was previously shown to carry the powdery mildew resistance gene Eg-3 in common with cultivar Mostyn. The resistance gene was mapped with restriction fragment length polymorphism (RFLP) markers ...

journal_title：Journal of applied genetics

authors： Mohler V,Zeller FJ,Hsam SL

更新日期：2012-05-01 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

authors： Gabriková D,Bernasovská J,Mačeková S,Bôžiková A,Bernasovský I,Bališinová A,Sovičová A,Behulová R,Petrejčíková E,Soták M,Boroňová I

更新日期：2012-05-01 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

authors： Sak J,Pawlikowski J,Goniewicz M,Witt M

更新日期：2012-05-01 00:00:00

abstract：:The white coat colour of sheep is an important economic trait. For unknown reasons, some animals are born with, and others develop with time, black skin spots that can also produce pigmented fibres. The presence of pigmented fibres in the white wool significantly decreases the fibre quality. The aim of this work was t...

journal_title：Journal of applied genetics

authors： Peñagaricano F,Zorrilla P,Naya H,Robello C,Urioste JI

更新日期：2012-02-01 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

authors： Ziętkiewicz E,Witt M,Daca P,Zebracka-Gala J,Goniewicz M,Jarząb B,Witt M

更新日期：2012-02-01 00:00:00

abstract：:The bovine growth hormone receptor (GHR) gene has been identified as a strong positional and functional candidate gene influencing milk production. A non-synonymous single nucleotide polymorphism (SNP) in exon 8 leads to a phenylalanine to tyrosine amino acid substitution (F279Y) in the receptor. The aim of the study ...

journal_title：Journal of applied genetics

authors： Rahmatalla SA,Müller U,Strucken EM,Reissmann M,Brockmann GA

更新日期：2011-11-01 00:00:00

abstract：:Soluble glycerol-3-phosphate dehydrogenase 1 (GPD1, EC 1.1.1.8) plays important roles in the synthesis of triacylglycerol and in the glycerol-3-phosphate shutter. Though GPD1 is expressed in most adult tissues, little is known about the regulation of its expression. In this study, we analyzed the characters, organizat...

journal_title：Journal of applied genetics

authors： Gao Y,Pan Y

更新日期：2011-11-01 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

authors： Gruszka D,Szarejko I,Maluszynski M

更新日期：2011-08-01 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

authors： Tenhola-Roininen T,Kalendar R,Schulman AH,Tanhuanpää P

更新日期：2011-08-01 00:00:00

abstract：:Mycotoxins are secondary metabolites with potential dangers for animal and human health. In particular, maize (Zea mays L.) infection caused by Fusarium and the consequent fumonisin contamination is widespread in several countries such as Italy. We developed six maize populations differing in their constitution of reg...

journal_title：Journal of applied genetics

authors： Pilu R,Cassani E,Sirizzotti A,Petroni K,Tonelli C

更新日期：2011-05-01 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

authors： Pronicka E,Węglewska-Jurkiewicz A,Taybert J,Pronicki M,Szymańska-Dębińska T,Karkucińska-Więckowska A,Jakóbkiewicz-Banecka J,Kowalski P,Piekutowska-Abramczuk D,Pajdowska M,Socha P,Sykut-Cegielska J,Węgrzyn G

更新日期：2011-02-01 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

authors： Ito M,Yamanouchi K,Naito K,Calos MP,Tojo H

更新日期：2011-02-01 00:00:00

abstract：:The genetic basis of the regeneration process in cultured immature embryos of rye (Secale cereale L.) was analyzed. The experiments were designed to reveal differences between the in vitro culture responses of two inbred lines: L318 (a high regeneration ability) and L9 (a low potential for regeneration). The rye ortol...

journal_title：Journal of applied genetics

authors： Gruszczyńska A,Rakoczy-Trojanowska M

更新日期：2011-02-01 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

authors： Ramya P,Chaubal A,Kulkarni K,Gupta L,Kadoo N,Dhaliwal HS,Chhuneja P,Lagu M,Gupta V

更新日期：2010-01-01 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

authors： Sliwka J,Jakuczun H,Kamiński P,Zimnoch-Guzowska E

更新日期：2010-01-01 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

authors： Kotta CM,Anastasakis A,Gatzoulis K,Papagiannis J,Geleris P,Stefanadis C

更新日期：2010-01-01 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

authors： Bogdanowicz J,Pawłowska B,Ilnicka A,Gawlik-Zawiślak S,Jóźwiak A,Sobiczewska B,Zdzienicka E,Korniszewski L,Zaremba J

更新日期：2010-01-01 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

authors： Yang H,Xu ZY,Lei MG,Li FE,Deng CY,Xiong YZ,Zuo B

更新日期：2010-01-01 00:00:00

abstract：:The psbA-trnH intergenic region is among the most variable regions in the gymnosperm chloroplast genome. It is proposed as suitable for DNA barcoding studies and is useful in phylogenetics at the species level. This region consists of two parts differing in their evolutionary characteristics: 1) the psbA 3’UTR (...

journal_title：Journal of applied genetics

authors： Hao DC,Chen SL,Xiao PG

更新日期：2010-01-01 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

authors： Jelonek K,Gdowicz-Klosok A,Pietrowska M,Borkowska M,Korfanty J,Rzeszowska-Wolny J,Widlak P

更新日期：2010-01-01 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

authors： Bomcke E,Gengler N

更新日期：2009-01-01 00:00:00

abstract：:Niemann-Pick type C1 (NPC) disease is an autosomal recessive neurodegenerative disorder. One feature of the mouse model of NPC1 is it's infertility. We have made transgenic mice which express the Npc1 protein exclusively in fibrillary astrocytes, using the glial fibrillary acidic protein (GFAP) promoter. This selectiv...

journal_title：Journal of applied genetics

authors： Donohue C,Marion S,Erickson RP

更新日期：2009-01-01 00:00:00

abstract：:The milk fatty acid (FA) profile is far from the optimal fat composition in regards to human health. The natural sources of variation, such as feeding or genetics, could be used to increase the concentrations of unsaturated fatty acids. The impact of feeding is well described. However, genetic effects on the milk FA c...

journal_title：Journal of applied genetics

authors： Arnould VM,Soyeurt H

更新日期：2009-01-01 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

authors： Onteru SK,Fan B,Rothschild MF

更新日期：2009-01-01 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

authors： Sadkowski T,Jank M,Zwierzchowski L,Siadkowska E,Oprzadek J,Motyl T

更新日期：2008-01-01 00:00:00

abstract：:Based on segregation distortion of simple sequence repeat (SSR) molecular markers, we detected a significant quantitative trait loci (QTL) for pre-harvest sprouting (PHS) tolerance on the short arm of chromosome 2D (2DS) in the extremely susceptible population of F2 progeny generated from the cross of PHS tolerant syn...

journal_title：Journal of applied genetics

authors： Ren XB,Lan XJ,Liu DC,Wang JL,Zheng YL

更新日期：2008-01-01 00:00:00

abstract：:Gaucher disease (GD) is an autosomal recessive inborn error of metabolism, resulting from a deficiency of the enzyme glucocerebrosidase, causing an accumulation of the glycolipid glucocerebroside within lysosomes of macrophages in the reticuloendothelial system. Three major clinical forms have been assigned and more t...

journal_title：Journal of applied genetics

authors： Yassin NA,Muwakkit SA,Ibrahim AO,Kayim IM,Habbal MZ,Chamseddine NM,Musallam KM,Shamseddine AI

更新日期：2008-01-01 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

authors： Smykal P,Horacek J,Dostalova R,Hybl M

更新日期：2008-01-01 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

authors： Wróbel B

更新日期：2008-01-01 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

authors： Kowalczyk M,Srebniak M,Tomaszewska A

更新日期：2007-01-01 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

authors： Ram SG,Thiruvengadam V,Vinod KK

更新日期：2007-01-01 00:00:00