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Journal of Applied Genetics

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https://www.readbyqxmd.com/read/27917442/polymorphisms-in-ten-candidate-genes-are-associated-with-conformational-and-locomotive-traits-in-spanish-purebred-horses
#1
Natalia Sevane, Susana Dunner, Ana Boado, Javier Cañon
The Spanish Purebred horses, also known as Andalusian horses, compete to the highest standards in international dressage events. Gait and conformation could be used as early selection criteria to detect young horses with promising dressage ability. Although the genetic background of equine size variation has been recently uncovered, the genetic basis of horse conformational and locomotive traits is not known, hampered by the complex genetic architecture underlying quantitative traits and the lack of phenotypic data...
December 5, 2016: Journal of Applied Genetics
https://www.readbyqxmd.com/read/27910062/plasma-and-saliva-mir-21-expression-in-colorectal-cancer-patients
#2
A A Sazanov, E V Kiselyova, A A Zakharenko, M N Romanov, M I Zaraysky
MicroRNA-21 (miR-21) expression was quantified by real-time qRT-PCR in peripheral blood and saliva samples obtained from patients diagnosed with colorectal cancer (CRC) of varying degrees of malignancy and healthy volunteers. All patients had adenocarcinoma located in the distal colon at different stages. Significant differences were detected between the control group and the total experimental group of CRC patients (plasma, P = 0.0001; saliva, P = 5e-12). MiR-21 expression was also significantly different in certain subgroups of patients with CRC disease stages II-IV as compared to the control group...
December 2, 2016: Journal of Applied Genetics
https://www.readbyqxmd.com/read/27888475/assessing-contamination-of-microalgal-astaxanthin-producer-haematococcus-cultures-with-high-resolution-melting-curve-analysis
#3
Adam Dawidziuk, Delfina Popiel, Magda Luboinska, Michal Grzebyk, Maciej Wisniewski, Grzegorz Koczyk
Due to its superior antioxidant capabilities and higher activity than other carotenoids, astaxanthin is used widely in the nutraceutical and medicine industries. The most prolific natural producer of astaxanthin is the unicellular green microalga Haematococcus pluvialis. The correct identification of any contaminants in H. pluvialis cultures is both essential and nontrivial for several reasons. Firstly, while it is possible to distinguish the main microalgal contaminant Coelastrella sp. (in H. pluvialis cultures), in practice, it is frequently a daunting and error-prone task for personnel without extensive experience in the microscopic identification of algal species...
November 26, 2016: Journal of Applied Genetics
https://www.readbyqxmd.com/read/27878453/evaluation-of-stability-and-validation-of-reference-genes-for-rt-qpcr-expression-studies-in-rice-plants-under-water-deficit
#4
Priscila Ariane Auler, Letícia Carvalho Benitez, Marcelo Nogueira do Amaral, Isabel Lopes Vighi, Gabriela Dos Santos Rodrigues, Luciano Carlos da Maia, Eugenia Jacira Bolacel Braga
Many studies use strategies that allow for the identification of a large number of genes expressed in response to different stress conditions to which the plant is subjected throughout its cycle. In order to obtain accurate and reliable results in gene expression studies, it is necessary to use reference genes, which must have uniform expression in the majority of cells in the organism studied. RNA isolation of leaves and expression analysis in real-time quantitative polymerase chain reaction (RT-qPCR) were carried out...
November 23, 2016: Journal of Applied Genetics
https://www.readbyqxmd.com/read/27878452/inheritance-and-effectiveness-of-two-transgenes-determining-pvy-resistance-in-progeny-from-crossing-independently-transformed-tobacco-lines
#5
Anna Czubacka, Ermanno Sacco, Hanna Olszak-Przybyś, Teresa Doroszewska
Genetic transformation of plants allows us to obtain improved genotypes enriched with the desired traits. However, if transgenic lines were to be used in breeding programs the stability of inserted transgenes is essential. In the present study, we followed the inheritance of transgenes in hybrids originated from crossing two transgenic tobacco lines resistant to Potato virus Y (PVY): MN 944 LMV with the transgene containing Lettuce mosaic virus coat protein gene (LMV CP) and AC Gayed ROKY2 with PVY replicase gene (ROKY2)...
November 23, 2016: Journal of Applied Genetics
https://www.readbyqxmd.com/read/27858254/array-comparative-genomic-hybridization-and-genomic-sequencing-in-the-diagnostics-of-the-causes-of-congenital-anomalies
#6
REVIEW
Krzysztof Szczałuba, Urszula Demkow
The aim of this review is to provide the current state of knowledge about the usefulness of modern genetic technologies in uncovering the causality of isolated and multiple congenital anomalies. Array comparative genomic hybridization and next-generation sequencing have revolutionized the clinical approach to patients with these phenotypes. Both technologies enable early diagnosis, especially in clinically challenging newborn populations, and help to uncover genetic defects associated with various phenotypes...
November 18, 2016: Journal of Applied Genetics
https://www.readbyqxmd.com/read/27838878/gene-environment-interactions-between-ercc2-ercc3-xrcc1-and-cadmium-exposure-in-nasal-polyposis-disease
#7
Rim Khlifi, Pablo Olmedo, Fernando Gil, Boutheina Hammami, Amel Hamza-Chaffai, Ahmed Rebai
Gene-environment interactions have long been known to play an important role in complex disease aetiology, such as nasal polyposis (NP). The present study supports the concept that DNA repair gene polymorphisms play critical roles in modifying individual susceptibility to environmental diseases. In fact, we investigated the role of polymorphisms in DNA repair genes and cadmium as risk factors for Tunisian patients with NP. To the best of our knowledge, this is the first report on the impact of combined effects of cadmium and ERCC3 7122 A>G (rs4150407), ERCC2 Lys751Gln (rs13181) and XRCC1 Arg399Gln (rs25487) genes in the susceptibility to NP disease...
November 12, 2016: Journal of Applied Genetics
https://www.readbyqxmd.com/read/27826892/the-effect-of-ugt1a9-cyp2b6-and-cyp2c9-genes-polymorphism-on-individual-differences-in-propofol-pharmacokinetics-among-polish-patients-undergoing-general-anaesthesia
#8
Adam Mikstacki, Oliwia Zakerska-Banaszak, Marzena Skrzypczak-Zielinska, Barbara Tamowicz, Michał Prendecki, Jolanta Dorszewska, Marta Molinska-Glura, Malgorzata Waszak, Ryszard Slomski
Propofol (2,6-diisopropylphenol) is one of the safest and most commonly used anaesthetic agents for intravenous general anaesthesia. However, in clinical practice, a large inter-individual variability in response to propofol is observed. To limit the risk of adverse effects, pharmacogenetic investigations are recommended. The aim of our study was to verify the impact of genetic changes c.516G>T in the CYP2B6, c.98T>C in the UGT1A9 and c.1075A>C in the CYP2C9 genes on the individual propofol pharmacokinetic profile in the Polish patients undergoing general anaesthesia...
November 8, 2016: Journal of Applied Genetics
https://www.readbyqxmd.com/read/27796943/modified-dna-polymerases-for-pcr-troubleshooting
#9
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...
October 28, 2016: Journal of Applied Genetics
https://www.readbyqxmd.com/read/27796942/comparison-of-mirna-profiling-during-airway-epithelial-repair-in-undifferentiated-and-differentiated-cells-in-vitro
#10
Wojciech Langwinski, Beata Narozna, Peter M Lackie, John W Holloway, Aleksandra Szczepankiewicz
Respiratory epithelium is a highly integrated structure that efficiently protects lungs from extrinsic irritants thanks to rapid repair of the wound. The repair is a complex process that requires coordinated expression of networks of genes. Plausible regulators of this process are microRNAs. We investigated whether global miRNA silencing influences the epithelial repair, and whether changes in miRNA expression profile during repair are similar between two bronchial epithelial cell cultures: differentiated and undifferentiated cells...
October 28, 2016: 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
#11
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.
October 25, 2016: Journal of Applied Genetics
https://www.readbyqxmd.com/read/27743251/similarities-and-differences-in-the-nuclear-genome-organization-within-pooideae-species-revealed-by-comparative-genomic-in-situ-hybridization-gish
#12
Joanna Majka, Maciej Majka, Michał Kwiatek, Halina Wiśniewska
In this paper, we highlight the affinity between the genomes of key representatives of the Pooideae subfamily, revealed at the chromosomal level by genomic in situ hybridization (GISH). The analyses were conducted using labeled probes from each species to hybridize with chromosomes of every species used in this study based on a "round robin" rule. As a result, the whole chromosomes or chromosome regions were distinguished or variable types of signals were visualized to prove the different levels of the relationships between genomes used in this study...
October 14, 2016: Journal of Applied Genetics
https://www.readbyqxmd.com/read/27726070/a-novel-tpm2-gene-splice-site-mutation-causes-severe-congenital-myopathy-with-arthrogryposis-and-dysmorphic-features
#13
Magdalena Mroczek, Dagmara Kabzińska, Krystyna H Chrzanowska, Maciej Pronicki, Andrzej Kochański
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 congenital myopathy. We report on a patient with such an unspecified congenital myopathy associated with distinctive facial dysmorphic features and distal arthrogryposis. Using the whole exome sequencing (WES) approach we were able to identify a novel heterozygous splice-site mutation within the TPM2 gene, showing the utility of WES in molecular diagnostics of congenital myopathies without recognizable morphological hallmarks...
October 10, 2016: Journal of Applied Genetics
https://www.readbyqxmd.com/read/27629806/genomic-findings-in-patients-with-clinical-suspicion-of-22q11-2-deletion-syndrome
#14
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...
September 14, 2016: 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
#15
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...
September 1, 2016: Journal of Applied Genetics
https://www.readbyqxmd.com/read/27562405/beta-amylase-gene-variability-in-introgressive-wheat-lines
#16
Maksym Antonyuk, Anastasiia Navalikhina, Tamara Ternovska
Variability of the beta-amylase gene in bread wheat, artificial amphidiploids, and derived introgression wheat lines was analyzed. Variation in homeologous beta-amylase sequences caused by the presence of MITE (Miniature Inverted-Repeat Transposable Element) and its footprint has been identified in bread wheat. The previously unknown location of MITE in Triticum urartu and T. aestivum L. beta-amylase gene has been found. These species have a MITE sequence in the third intron of beta-amylase, as opposed to Aegilops comosa and a number of other Triticeae species, which have it in the fourth intron...
August 25, 2016: 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
#17
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...
August 9, 2016: 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
#18
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)...
August 8, 2016: Journal of Applied Genetics
https://www.readbyqxmd.com/read/27020790/interstitial-11q24-deletion-a-new-case-and-review-of-the-literature
#19
Elisa Tassano, Sara Janis, Alberto Canepa, Elisabetta Zanotto, Corrado Torello, Giorgio Gimelli, Cristina Cuoco
We describe a 19-month-old male presenting with right stenotic megaureter, anemia and thrombocytopenia, cardiac and ophthalmologic abnormalities. Analysis with array-based comparative genomic hybridization (aCGH) revealed an interstitial deletion of about 2.4 Mb of chromosome 11q24.2q24.3. We compared the phenotype of our patient with that of recently reported patients studied by aCGH, who showed an overlapping deletion. We also analysed the gene content of the deleted region in order to investigate the possible involvement of specific genes in the clinical phenotype...
August 2016: Journal of Applied Genetics
https://www.readbyqxmd.com/read/26906906/friedreich-ataxia-is-not-only-a-gaa-repeats-expansion-disorder-implications-for-molecular-testing-and-counselling
#20
Dorota Hoffman-Zacharska, Tomasz Mazurczak, Tomasz Zajkowski, Renata Tataj, Paulina Górka-Skoczylas, Katarzyna Połatyńska, Łukasz Kępczyński, Mariusz Stasiołek, Jerzy Bal
Friedreich ataxia (FRDA) is the most common hereditary ataxia. It is an autosomal recessive disorder caused by mutations of the FXN gene, mainly the biallelic expansion of the (GAA)n repeats in its first intron. Heterozygous expansion/point mutations or deletions are rare; no patients with two point mutations or a point mutation/deletion have been described, suggesting that loss of the FXN gene product, frataxin, is lethal. This is why routine FRDA molecular diagnostics is focused on (GAA)n expansion analysis...
August 2016: Journal of Applied Genetics
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