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Journal of Applied Genetics

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https://www.readbyqxmd.com/read/28324282/recurrent-bowel-blood-translocations-of-escherichia-coli-with-the-unique-virulence-characteristics-over-three-year-period-in-the-patient-with-acute-myeloid-leukaemia-case-report
#1
Beata Krawczyk, Anna Śledzińska, Agnieszka Piekarska, Andrzej Hellmann, Józef Kur
In patients with haematological malignancies, the bowel remains the main source of Escherichia coli bloodstream infections. We present the clinical example of recurrent bowel-blood translocations of E. coli with the unique virulence characteristics in a 55-year-old male with the diagnosis of acute myeloid leukaemia. The virulent factors profile of examined strains confirmed that the co-existence of genes papC, sfa, usp and cnf1, encoding virulence factors, predisposes E. coli to translocation from the gastrointestinal tract to the vascular bed...
March 21, 2017: Journal of Applied Genetics
https://www.readbyqxmd.com/read/28247318/a-rare-subclinical-or-mild-type-of-becker-muscular-dystrophy-caused-by-a-single-exon-48-deletion-of-the-dystrophin-gene
#2
Janusz G Zimowski, Jacek Pilch, Magdalena Pawelec, Joanna K Purzycka, Jolanta Kubalska, Karolina Ziora-Jakutowicz, Magdalena Dudzińska, Jacek Zaremba
In the material of 227 families with Becker muscular dystrophy (BMD), we found nine non-consanguineous families with 17 male individuals carrying a rare mutation-a single exon 48 deletion of the dystrophin gene-who were affected with a very mild or subclinical form of BMD. They were usually detected thanks to accidental findings of elevated serum creatine phosphokinase (sCPK). A thorough clinical analysis of the carriers, both children (12) and adults (5), revealed in some of them muscle hypotonia (10/17) and/or very mild muscle weakness (9/17), as well as decreased tendon reflexes (6/17)...
February 28, 2017: Journal of Applied Genetics
https://www.readbyqxmd.com/read/28191600/molecular-characterisation-of-tumour-necrosis-factor-alpha-and-its-potential-connection-with-lipoprotein-lipase-and-peroxisome-proliferator-activated-receptors-in-blunt-snout-bream-megalobrama-amblycephala
#3
Man Zhou, Hai-Feng Mi, Wen-Bin Liu, Ye-Yang Wu, Kai-Zhou Wang, Guang-Zhen Jiang
Tumour necrosis factor alpha (TNF-α) is one kind of cytokines which is related to inflammation and lipid metabolism. TNF-α cDNA was cloned from the liver of blunt snout bream (Megalobrama amblycephala) through real-time polymerase chain reaction (PCR) and rapid amplification of cDNA ends (RACE) methods. The full-length cDNA of TNF-α covered 1467 bp, with an open reading frame (ORF) of 723 bp, which encodes 240 amino acids. It possessed the TNF family signature IIIPDDGIYFVYSQ. After the lipopolysaccharide (LPS) challenge test, a graded tissue-specific expression pattern of TNF-α was observed and there was high expression abundance in the kidney, brain and liver...
February 13, 2017: Journal of Applied Genetics
https://www.readbyqxmd.com/read/28168627/disturbances-in-the-ploidy-level-in-the-gynogenetic-sterlet-acipenser-ruthenus
#4
D Fopp-Bayat, K Ocalewicz, M Kucinski, M Jankun, B Laczynska
Artificial mitotic gynogenesis, a chromosome set manipulation, is applied to provide the homozygous progeny with only maternal inheritance. Here, gynogenetic development was induced in the sterlet Acipenser ruthenus L. (Acipenseridae) by activation of the eggs originating from albino females with the UV-irradiated spermatozoa from wild-coloured males, followed by the heat shock applied to suppress the first mitotic division in the haploid zygotes. All experimentally obtained gynogenetic offspring possessed recessive albino coloration...
February 6, 2017: Journal of Applied Genetics
https://www.readbyqxmd.com/read/28101856/relationship-of-long-term-prognosis-to-mmp-and-timp-polymorphisms-in-patients-after-st-elevation-myocardial-infarction
#5
Monika Pavkova Goldbergova, Jiri Jarkovsky, Jolana Lipkova, Simona Littnerova, Martin Poloczek, Jindrich Spinar, Lenka Kubkova, Krystyna Kluz, Petr Kala, Jan Manousek, Anna Vasku, Jiri Parenica
The influence of polymorphisms in the large group of MMP and TIMP genes on clinical outcomes in patients after ST elevation myocardial infarction (STEMI) treated with primary PCI was analysed. In total, 550 consecutive Caucasian patients with STEMI were included in the present study, with a median of 32 months. We analysed 19 polymorphisms in the genes coding MMP and TIMP genes. The MMP-1 -519A/G and -422A/T polymorphisms are associated with combined endpoint after myocardial infarction. The hazard ratio for AT variant of MMP-1 -422A/T was 1...
January 18, 2017: Journal of Applied Genetics
https://www.readbyqxmd.com/read/28063128/improved-production-of-doubled-haploids-of-winter-and-spring-triticale-hybrids-via-combination-of-colchicine-treatments-on-anthers-and-regenerated-plants
#6
Aurelia Ślusarkiewicz-Jarzina, Hanna Pudelska, Jolanta Woźna, Tomasz Pniewski
Double haploids (DH), obtained during androgenesis in vitro or by genome diploidisation in regenerated haploids, are one type of basic materials used in triticale breeding programmes. The aim of this study was to improve DH production by a combination of colchicine treatment methods on a sample of five winter and five spring triticale hybrids. Colchicine was applied in vitro either in the C17 medium to induce embryo-like structures (ELS) or in the 190-2 medium for green plant (GP) development. Regenerants which remained haploid were immersed in a colchicine solution either when placed on the medium prior to transferring to soil or when growing in pots, followed by the application or absence of cooling...
January 6, 2017: Journal of Applied Genetics
https://www.readbyqxmd.com/read/28050760/identification-of-novel-candidate-genes-for-the-inverted-teat-defect-in-sows-using-a-genome-wide-marker-panel
#7
Helena Chalkias, Elisabeth Jonas, Lisa S Andersson, Magdalena Jacobson, Dirk Jan de Koning, Nils Lundeheim, Gabriella Lindgren
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 maternal lines, samples from 230 Yorkshire pigs were selected for genotyping using the PorcineSNP60K BeadChip (Illumina Inc.), each pig with at least one inverted teat was matched with one non-affected pig (fullsib or pairs with matching herd and gender)...
January 4, 2017: Journal of Applied Genetics
https://www.readbyqxmd.com/read/27796943/modified-dna-polymerases-for-pcr-troubleshooting
#8
REVIEW
Marta Śpibida, Beata Krawczyk, Marcin Olszewski, Józef Kur
PCR has become an essential tool in biological science. However, researchers often encounter problems with difficult targets, inhibitors accompanying the samples, or PCR trouble related to DNA polymerase. Therefore, PCR optimization is necessary to obtain better results. One solution is using modified DNA polymerases with desirable properties for the experiments. In this article, PCR troubleshooting, depending on the DNA polymerase used, is shown. In addition, the reasons that might justify the need for modification of DNA polymerases, type of modifications, and links between modified DNA polymerases and PCR efficiency are described...
February 2017: Journal of Applied Genetics
https://www.readbyqxmd.com/read/27783333/relative-efficacy-of-nicotinamide-treatment-of-a-mouse-model-of-infantile-niemann-pick-c1-disease
#9
Craig A Marshall, Ivan A Borbon, Robert P Erickson
Nicotinamide delivered in drinking water at about 2 g/kg/day significantly prolonged survival and showed a suggestive improvement on memory in the Npc1 (nih) / Npc1 (nih) mouse model of infantile NPC1 disease. It is likely that this role is due to its function as a histone deacetylase (HDAC) inhibitor although another HDAC inhibitor, valproic acid, was without effect. Nicotinamide could also work by preventing/reversing oxidative stress.
February 2017: Journal of Applied Genetics
https://www.readbyqxmd.com/read/27629806/genomic-findings-in-patients-with-clinical-suspicion-of-22q11-2-deletion-syndrome
#10
Magdalena Koczkowska, Jolanta Wierzba, Robert Śmigiel, Maria Sąsiadek, Magdalena Cabała, Ryszard Ślężak, Mariola Iliszko, Iwona Kardaś, Janusz Limon, Beata S Lipska-Ziętkiewicz
Chromosome 22q11.2 deletion syndrome, one of the most common human genomic syndromes, has highly heterogeneous clinical presentation. Patients usually harbor a 1.5 to 3 Mb hemizygous deletion at chromosome 22q11.2, resulting in pathognomic TBX1, CRKL and/or MAPK1 haploinsufficiency. However, there are some individuals with clinical features resembling the syndrome who are eventually diagnosed with genomic disorders affecting other chromosomal regions. The objective of this study was to evaluate the additive value of high-resolution array-CGH testing in the cohort of 41 patients with clinical features of 22q11...
February 2017: Journal of Applied Genetics
https://www.readbyqxmd.com/read/27585670/limb-girdle-muscular-dystrophy-with-severe-heart-failure-overlapping-with-lipodystrophy-in-a-patient-with-lmna-mutation-p-ser334del
#11
Agnieszka Madej-Pilarczyk, Adam Niezgoda, Magdalena Janus, Romuald Wojnicz, Michał Marchel, Anna Fidziańska, Stefan Grajek, Irena Hausmanowa-Petrusewicz
Laminopathies, a group of heterogeneous disorders associated with lamin A/C gene (LMNA) mutations, encompass a wide spectrum of clinical phenotypes, which may present as separate disease or as overlapping syndromes. We describe a 35-year-old female in whom a novel sporadic heterozygous mutation c.1001_1003delGCC (p.Ser334del) of the LMNA gene was found. The patient presented with overlapping syndrome of heart failure secondary to dilated cardiomyopathy, limb-girdle dystrophy and partial lipodystrophy. Endomyocardial biopsy revealed strong up-regulation of HLA classes I and II antigens on microvessels and induction of the class I antigens on cardiomyocytes...
February 2017: Journal of Applied Genetics
https://www.readbyqxmd.com/read/27503092/qtls-for-earliness-and-yield-forming-traits-in-the-lubuski%C3%A2-%C3%A3-%C3%A2-camb-barley-ril-population-under-various-water-regimes
#12
Piotr Ogrodowicz, Tadeusz Adamski, Krzysztof Mikołajczak, Anetta Kuczyńska, Maria Surma, Paweł Krajewski, Aneta Sawikowska, Andrzej G Górny, Kornelia Gudyś, Iwona Szarejko, Justyna Guzy-Wróbelska, Karolina Krystkowiak
Drought has become more frequent in Central Europe causing large losses in cereal yields, especially of spring crops. The development of new varieties with increased tolerance to drought is a key tool for improvement of agricultural productivity. Material for the study consisted of 100 barley recombinant inbred lines (RILs) (LCam) derived from the cross between Syrian and European parents. The RILs and parental genotypes were examined in greenhouse experiments under well-watered and water-deficit conditions...
February 2017: Journal of Applied Genetics
https://www.readbyqxmd.com/read/27502940/interactions-between-glu-1-and-glu-3-loci-and-associations-of-selected-molecular-markers-with-quality-traits-in-winter-wheat-triticum-aestivum-l-dh-lines
#13
Karolina Krystkowiak, Monika Langner, Tadeusz Adamski, Bolesław P Salmanowicz, Zygmunt Kaczmarek, Paweł Krajewski, Maria Surma
The quality of wheat depends on a large complex of genes and environmental factors. The objective of this study was to identify quantitative trait loci controlling technological quality traits and their stability across environments, and to assess the impact of interaction between alleles at loci Glu-1 and Glu-3 on grain quality. DH lines were evaluated in field experiments over a period of 4 years, and genotyped using simple sequence repeat markers. Lines were analysed for grain yield (GY), thousand grain weight (TGW), protein content (PC), starch content (SC), wet gluten content (WG), Zeleny sedimentation value (ZS), alveograph parameter W (APW), hectolitre weight (HW), and grain hardness (GH)...
February 2017: Journal of Applied Genetics
https://www.readbyqxmd.com/read/27475083/genetic-correlation-estimates-between-beef-fatty-acid-profile-with-meat-and-carcass-traits-in-nellore-cattle-finished-in-feedlot
#14
Fabieli Loise Braga Feitosa, Bianca Ferreira Olivieri, Carolyn Aboujaoude, Angélica Simone Cravo Pereira, Marcos Vinicius Antunes de Lemos, Hermenegildo Lucas Justino Chiaia, Mariana Piatto Berton, Elisa Peripolli, Adrielle Matias Ferrinho, Lenise Freitas Mueller, Mônica Roberta Mazalli, Lucia Galvão de Albuquerque, Henrique Nunes de Oliveira, Humberto Tonhati, Rafael Espigolan, Rafael Lara Tonussi, Rafael Medeiros de Oliveira Silva, Daniel Gustavo Mansan Gordo, Ana Fabrícia Braga Magalhães, Ignacio Aguilar, Fernando Baldi
The objective of this study was to estimate the genetic-quantitative relationships between the beef fatty acid profile with the carcass and meat traits of Nellore cattle. A total of 1826 bulls finished in feedlot conditions and slaughtered at 24 months of age on average were used. The following carcass and meat traits were analysed: subcutaneous fat thickness (BF), shear force (SF) and total intramuscular fat (IMF). The fatty acid (FA) profile of the Longissimus thoracis samples was determined. Twenty-five FAs (18 individuals and seven groups of FAs) were selected due to their importance for human health...
February 2017: Journal of Applied Genetics
https://www.readbyqxmd.com/read/27468932/cytomolecular-discrimination-of-the-a-m-chromosomes-of-triticum-monococcum-and-the-a-chromosomes-of-triticum-aestivum-using-microsatellite-dna-repeats
#15
Mária Megyeri, Péter Mikó, András Farkas, Márta Molnár-Láng, István Molnár
The cytomolecular discrimination of the A(m)- and A-genome chromosomes facilitates the selection of wheat-Triticum monococcum introgression lines. Fluorescence in situ hybridisation (FISH) with the commonly used DNA probes Afa family, 18S rDNA and pSc119.2 showed that the more complex hybridisation pattern obtained in T. monococcum relative to bread wheat made it possible to differentiate the A(m) and A chromosomes within homoeologous groups 1, 4 and 5. In order to provide additional chromosomal landmarks to discriminate the A(m) and A chromosomes, the microsatellite repeats (GAA)n, (CAG)n, (CAC)n, (AAC)n, (AGG)n and (ACT)n were tested as FISH probes...
February 2017: Journal of Applied Genetics
https://www.readbyqxmd.com/read/27465692/scbx-gene-based-association-analysis-of-hydroxamate-content-in-rye-secale-cereale-l
#16
Monika Rakoczy-Trojanowska, Wacław Orczyk, Paweł Krajewski, Jan Bocianowski, Anna Stochmal, Mariusz Kowalczyk
Hydroxamates (HX) are major secondary metabolites synthesized by rye and are responsible for some of the unique properties of this cereal, including good tolerance of biotic and abiotic stresses and allelopathy. Recently, five genes encoding enzymes taking part in HX biosynthesis have been sequenced and characterized, which was the starting point to undertake the present study. Association analysis of the content of six HX-HBOA (2-hydroxy-1,4-benzoxazin-3-one), GDIBOA (2,4-dihydroxy-1,4-benzoxazin-3(4H)-one glucoside), DIBOA (2,4-dihydroxy-1,4-benzoxazin-3(4H)-one), GDIMBOA (2,4-dihydroxy-7-methoxy-1,4-benzoxazin-3(4H)-one glucoside), DIMBOA (2,4-dihydroxy-7-methoxy-1,4-benzoxazin-3(4H)-one) and MBOA (6-methoxy-benzoxazolin-2(3H)-one) in the above-ground parts of plants and roots was performed on a population consisting of 102 and 121 diverse inbred lines, in 2013 and 2014, respectively...
February 2017: Journal of Applied Genetics
https://www.readbyqxmd.com/read/27447461/quantitative-trait-loci-for-plant-height-in-maresi%C3%A2-%C3%A3-%C3%A2-camb-barley-population-and-their-associations-with-yield-related-traits-under-different-water-regimes
#17
Krzysztof Mikołajczak, Anetta Kuczyńska, Paweł Krajewski, Aneta Sawikowska, Maria Surma, Piotr Ogrodowicz, Tadeusz Adamski, Karolina Krystkowiak, Andrzej G Górny, Michał Kempa, Iwona Szarejko, Justyna Guzy-Wróbelska, Kornelia Gudyś
High-yielding capacity of the modern barley varieties is mostly dependent on the sources of semi-dwarfness associated with the sdw1/denso locus. The objective of the study was to identify quantitative trait loci (QTLs) associated with the plant height and yield potential of barley recombinant inbred lines (RILs) grown under various soil moisture regimes. The plant material was developed from a hybrid between the Maresi (European cv.) and CamB (Syrian cv.). A total of 103 QTLs affecting analysed traits were detected and 36 of them showed stable effects over environments...
February 2017: Journal of Applied Genetics
https://www.readbyqxmd.com/read/27447460/new-pah-gene-promoter-klf1-and-3-region-c-ebpalpha-motifs-influence-transcription-in-vitro
#18
Kristel Klaassen, Biljana Stankovic, Nikola Kotur, Maja Djordjevic, Branka Zukic, Gordana Nikcevic, Milena Ugrin, Vesna Spasovski, Sanja Srzentic, Sonja Pavlovic, Maja Stojiljkovic
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 regions to assess their possible influence on the PKU phenotype. We transiently transfected HepG2 cells with various chloramphenicol acetyl transferase (CAT) reporter constructs which included PAH gene non-coding regions...
February 2017: Journal of Applied Genetics
https://www.readbyqxmd.com/read/27447459/genome-wide-identification-characterisation-and-expression-profiles-of-calcium-dependent-protein-kinase-genes-in-barley-hordeum-vulgare-l
#19
Olga Fedorowicz-Strońska, Grzegorz Koczyk, Małgorzata Kaczmarek, Paweł Krajewski, Jan Sadowski
In plant cells, calcium-dependent protein kinases (CDPKs) are important sensors of Ca(2+) flux resulting from various environmental stresses like cold, drought or salt stress. Previous genome sequence analysis and comparative studies in Arabidopsis (Arabidopsis thaliana L.) and rice (Oryza sativa L.) defined a multi-gene family of CDPKs. Here, we identified and characterised the CDPK gene complement of the model plant, barley (Hordeum vulgare L.). Comparative analysis encompassed phylogeny reconstruction based on newly available barley genome sequence, as well as established model genomes (e...
February 2017: Journal of Applied Genetics
https://www.readbyqxmd.com/read/27311313/plagl1-an-important-player-in-diverse-pathological-processes
#20
REVIEW
Ana F Vega-Benedetti, Cinthia Saucedo, Patrizia Zavattari, Roberta Vanni, José L Zugaza, Luis Antonio Parada
The PLAGL1 gene encodes a homonymous zinc finger protein that promotes cell cycle arrest and apoptosis through multiple pathways. The protein has been implicated in metabolic, genetic, and neoplastic illnesses, but the molecular mechanisms by which the protein PLAGL1 participates in such diverse processes remains to be elucidated. In this review, we focus mainly on the molecular biology of PLAGL1 and the relevance of its abnormalities to several pathological processes.
February 2017: Journal of Applied Genetics
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