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Journal of Applied Genetics

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https://www.readbyqxmd.com/read/29725989/survey-of-potential-factors-involved-in-the-low-frequency-of-cp5-and-cp8-expression-in-staphylococcus-aureus-isolates-from-mastitis-of-dairy-cattle-from-argentina-chile-and-uruguay
#1
Maria Belen Ambroggio, Melina Soledad Perrig, Cecilia Camussone, Nazarena Pujato, Alicia Bertón, Edgardo Gianneechini, Silvia Alvarez, Ivan Sergio Marcipar, Luis Fernando Calvinho, Maria Sol Barbagelata
Staphylococcus aureus produces capsular polysaccharides (CPs) both in vivo and under defined culture conditions being serotypes 5 and 8 the most prevalent. S. aureus isolates that fail to produce CP5 or CP8 are defined as non-typeable (NT). Loss of capsule expression, however, may lead to S. aureus persistence in a chronically infected host. The prevalence of NT strains of S. aureus isolated from bovine mastitis varies according to the geographic origin of the strain. The aims of this work were to detect phenotypically and genotypically the capsular profile of 144 S...
May 3, 2018: Journal of Applied Genetics
https://www.readbyqxmd.com/read/29705927/single-nucleotide-polymorphism-rs11614913-associated-with-cc-genotype-in-mir-196a2-is-overrepresented-in-laryngeal-squamous-cell-carcinoma-but-not-salivary-gland-tumors-in-polish-population
#2
Marcin Skalski, Adam Ustaszewski, Katarzyna Jaskiewicz, Katarzyna Kiwerska, Malgorzata Wierzbicka, Hanna Klimza, Reidar Grenman, Maciej Giefing
The miRNA-196a2 has shown significance in the development of various neoplasms, including head and neck squamous cell carcinoma (HNSCC). The oncogenic functionality of this miRNA is mediated via its potential to target annexin A1 mRNA, a tumor suppressor gene involved in inhibition of the NF-κB pathway. Interestingly, recent data indicate a susceptibility for aforementioned neoplasms in patients with the CC genotype vs the CT and TT genotypes of the rs11614913 SNP located within the DNA sequence of the miR-196a2 that results in elevated expression of the gene...
April 29, 2018: Journal of Applied Genetics
https://www.readbyqxmd.com/read/29721857/correction-to-identification-of-novel-mutations-in-ffpe-lung-adenocarcinomas-using-deparray-sorting-technology-and-next-generation-sequencing
#3
Ji Won Lee, Jong-Yeon Shin, Jeong-Sun Seo
In the original article, part of Table 1 headings and entries were missing. The correct Table is as shown below. The original article has been corrected.
April 24, 2018: Journal of Applied Genetics
https://www.readbyqxmd.com/read/29680930/splicing-mutations-in-human-genetic-disorders-examples-detection-and-confirmation
#4
REVIEW
Abramowicz Anna, Gos Monika
Precise pre-mRNA splicing, essential for appropriate protein translation, depends on the presence of consensus "cis" sequences that define exon-intron boundaries and regulatory sequences recognized by splicing machinery. Point mutations at these consensus sequences can cause improper exon and intron recognition and may result in the formation of an aberrant transcript of the mutated gene. The splicing mutation may occur in both introns and exons and disrupt existing splice sites or splicing regulatory sequences (intronic and exonic splicing silencers and enhancers), create new ones, or activate the cryptic ones...
April 21, 2018: Journal of Applied Genetics
https://www.readbyqxmd.com/read/29644542/challenges-in-inbreeding-estimation-of-large-populations-based-on-polish-holstein-friesian-cattle-pedigree
#5
Ewa Sell-Kubiak, Łukasz Czarniecki, Tomasz Strabel
The aim of this study was to evaluate observed and future inbreeding level in Polish Holstein-Friesian cattle population. In total, over 9.8 mln animals were used in the analysis coming from the pedigree of Polish Federation of Cattle Breeders and Dairy Farmers. Inbreeding level, as an average per birth year, was estimated with the method accounting for missing parent information with the assumption of year 1950 as the base year of the population. If an animal had no ancestral records, an average inbreeding level from its birth year was assigned...
April 11, 2018: Journal of Applied Genetics
https://www.readbyqxmd.com/read/29574509/linkage-disequilibrium-and-functional-analysis-of-pre1-insertion-together-with-snps-in-the-promoter-region-of-igfbp7-gene-in-different-pig-breeds
#6
Qingyan Wu, Hao Yu, Wenzhen Wei, Yunyun Cheng, Shan Huang, Hongyu Shi, Songcai Liu, Jichao Xia, Hongyao Jia, Linlin Hao
Polymorphisms in regions upstream of transcription initiation site may modify the transcriptional activity of target genes by changing promoter activity. This study aims to determine whether or not polymorphisms at porcine IGFBP7 promoter region affect gene expression. In this study, eight SNPs and one PRE1 insertion in this region were first confirmed. The PRE1 insertion was widespread in 20 Chinese indigenous breeds, but was not observed in three commercial breeds. A perfect linkage disequilibrium, consisting of six of those SNPs and a PRE1, was observed with two haplotypes (h1 and h2) in five pig breeds...
March 25, 2018: Journal of Applied Genetics
https://www.readbyqxmd.com/read/29564645/diagnostic-efficacy-and-new-variants-in-isolated-and-complex-autism-spectrum-disorder-using-molecular-karyotyping
#7
Luca Lovrečić, Polona Rajar, Marija Volk, Sara Bertok, Barbara Gnidovec Stražišar, Damjan Osredkar, Maja Jekovec Vrhovšek, Borut Peterlin
Autism spectrum disorder (ASD) is a group of the neurodevelopment disorders presenting as an isolated ASD or more complex forms, where a broader clinical phenotype comprised of developmental delay and intellectual disability is present. Both the isolated and complex forms have a significant causal genetic component and submicroscopic genomic copy number variations (CNV) are the most common identifiable genetic factor in these patients. The data on microarray testing in ASD cohorts are still accumulating and novel loci are often identified; therefore, we aimed to evaluate the diagnostic efficacy of the method and the relevance of implementing it into routine genetic testing in ASD patients...
March 21, 2018: Journal of Applied Genetics
https://www.readbyqxmd.com/read/29525983/identification-of-novel-mutations-in-ffpe-lung-adenocarcinomas-using-deparray-sorting-technology-and-next-generation-sequencing
#8
Ji Won Lee, Jong-Yeon Shin, Jeong-Sun Seo
Formalin-fixed paraffin-embedded (FFPE) tissues are utilized as the standard diagnostic method in pathology laboratories. However, admixture of unwanted tissues and shortage of normal samples, which can be used to detect somatic mutation, are considered critical factors to accurately diagnose cancer. To explore these challenges, we sorted the pure tumor cells from 22 FFPE lung adenocarcinoma tissues via Di-Electro-Phoretic Array (DEPArray) technology, a new cell sorting technology, and analyzed the variants with next-generation sequencing (NGS) for the most accurate analysis...
March 10, 2018: Journal of Applied Genetics
https://www.readbyqxmd.com/read/29549519/tip60-updates
#9
REVIEW
Ahmed H Ghobashi, Maher A Kamel
The maintenance of genome integrity is essential for organism survival. Therefore, eukaryotic cells possess many DNA repair mechanisms in response to DNA damage. Acetyltransferase, Tip60, plays a central role in ATM and p53 activation which are involved in DNA repair. Recent works uncovered the roles of Tip60 in ATM and p53 activation and how Tip60 is recruited to double-strand break sites. Moreover, recent works have demonstrated the role of Tip60 in cancer progression. Here, we review the current understanding of how Tip60 activates both ATM and p53 in response to DNA damage and his new roles in tumorigenesis...
May 2018: Journal of Applied Genetics
https://www.readbyqxmd.com/read/29549518/correction-to-craniosynostosis-as-a-clinical-and-diagnostic-problem-molecular-pathology-and-genetic-counseling
#10
Anna Kutkowska-Kaźmierczak, Monika Gos, Ewa Obersztyn
In the original article, figures 1 and 2 were inadvertently interchanged initially. The correct figures are as shown below. The original article has been corrected.
May 2018: Journal of Applied Genetics
https://www.readbyqxmd.com/read/29524049/differences-between-horse-selection-based-on-two-forms-of-osteochondrosis-in-fetlock
#11
D Lewczuk, A Bereznowski, M Hecold, M Frąszczak, A Ruść, A Korwin-Kossakowska, J Szyda, S Kamiński
Horses lose potential opportunities because of health problems. Available breeding strategies are not effective enough, probably also because of the different definition used and its genetic usefulness. The aim of the study was to compare the genetic background estimated by the genome-wide association study (GWAS) for osteochondrosis using two different scaling osteochondrosis (OC)/healthy and osteochondrosis dissecans (OCD)/healthy systems for evaluating the disease status of investigated fetlock joints. Two hundred one Warmblood horses trained for performance tests (87 stallions and 114 mares) were phenotyped and genotyped...
May 2018: Journal of Applied Genetics
https://www.readbyqxmd.com/read/29520708/association-study-between-copy-number-variation-and-beef-fatty-acid-profile-of-nellore-cattle
#12
Marcos Vinicius Antunes de Lemos, Elisa Peripolli, Mariana Piatto Berton, Fabiele Loise Braga Feitosa, Bianca Ferreira Olivieri, Nedenia Bonvino Stafuzza, Rafael Lara Tonussi, Sabrina Kluska, Hermenegildo Lucas Justino Chiaia, Lenise Mueller, Adrielli Mathias Ferrinho, Angelica Simone Cravo Prereira, Henrique Nunes de Oliveira, Lucia Galvão de Albuquerque, Fernando Baldi
The aim of this study was to analyze the association between the copy number variation regions (CNVRs) and fatty acid profile phenotypes for saturated (SFA), monosaturated (MUFA), polyunsaturated (PUFA), ω6 and ω3 fatty acids, PUFA/SFA and ω6/ω3 ratios, as well as for their sums, in Nellore cattle (Bos primigenius indicus). A total of 963 males were finished in feedlot and slaughtered with approximately 2 years of age. Animals were genotyped with the BovineHD BeadChip (Illumina Inc., San Diego, CA, USA)...
May 2018: Journal of Applied Genetics
https://www.readbyqxmd.com/read/29500604/asymmetries-heterosis-and-phenotypic-profiles-of-red-junglefowl-white-plymouth-rocks-and-f-1-and-f-2-reciprocal-crosses
#13
D A T Sutherland, C F Honaker, B Dorshorst, L Andersson, P B Siegel
During the domestication of farm animals, humans have manipulated genetic variation for growth and reproduction through artificial selection. Here, data are presented for growth, reproductive, and behavior traits for the red junglefowl, a line of White Plymouth Rock chickens, and their F1 and F2 reciprocal crosses. Intra- and intergenerational comparisons for growth related traits reflected considerable additive genetic variation. In contrast, those traits associated with reproduction exhibited heterosis. The role of sexual selection was seen in the evolution of prominent secondary sexual ornaments that lend to female choice and male-male competition...
May 2018: Journal of Applied Genetics
https://www.readbyqxmd.com/read/29492845/qtl-for-tuber-morphology-traits-in-diploid-potato
#14
Agnieszka Hara-Skrzypiec, J Śliwka, H Jakuczun, E Zimnoch-Guzowska
A diploid, potato mapping population consisting of 149 individuals was assessed in three consecutive years for important agronomic and quality traits: tuber shape, regularity of tuber shape, eye depth, mean tuber weight, and tuber flesh color. Analysis of variance showed that the genotype had the largest influence on the phenotypic scores but effect of the genotype × year interactions was also strong. Using this data and an existing genetic map, a quantitative trait loci (QTL) analysis was conducted. From four to seven QTL were detected for each trait except tuber flesh color, which was determined by a major QTL on chromosome III explaining 76...
May 2018: Journal of Applied Genetics
https://www.readbyqxmd.com/read/29464546/gene-diet-related-factors-of-hyperglycaemia-in-postmenopausal-women
#15
Bogna Grygiel-Górniak, Elżbieta Kaczmarek, Maria Mosor, Juliusz Przysławski, Jerzy Nowak
As ageing and increased body fat are the signs of insulin resistance, we have studied whether the presence of Pro12Ala and C1431T of peroxisome proliferator-activated receptor gamma 2 gene and Trp64Arg of beta 3-adrenergic receptor gene may predispose to the hyperglycaemia development in postmenopausal women, who have never undergone hypoglycaemic treatment. The distributions of selected allele and genotype frequencies were determined by the PCR-RFLP method in normo- and hyperglycaemic, who have never been diagnosed and treated for diabetes mellitus were measured...
May 2018: Journal of Applied Genetics
https://www.readbyqxmd.com/read/29460221/the-genetics-of-aniridia-simple-things-become-complicated
#16
REVIEW
Anna Wawrocka, Maciej R Krawczynski
Aniridia is a rare, panocular disorder characterized by a variable degree of hypoplasia or the absence of iris tissue associated with additional ocular abnormalities. It is inherited in an autosomal dominant manner, with high penetrance and variable expression even within the same family. In most cases the disease is caused by haploinsufficiency truncating mutations in the PAX6 gene; however, in up to 30% of aniridia patients, disease results from chromosomal rearrangements at the 11p13 region. The aim of this review is to present the clinical and genetic aspects of the disease...
May 2018: Journal of Applied Genetics
https://www.readbyqxmd.com/read/29411332/a-pilot-study-of-direct-delivery-of-hydroxypropyl-beta-cyclodextrin-to-the-lung-by-the-nasal-route-in-a-mouse-model-of-niemann-pick-c1-disease-motor-performance-is-unaltered-and-lung-disease-is-worsened
#17
Robert P Erickson, Gail Deutsch, Ruturaj Patil
We have tested the efficacy of hydroxypropyl-beta-cyclodextrin (HPBCD) delivered by the nasal route in the mouse model of juvenile Niemann-Pick C1 disease (NPC1), as pulmonary disease has not responded to systemic therapy with this drug. Since mice have no gag reflex, coating of the nasal cavity, with possible access to the brain, would be followed by delivery of HPBCD to the lung. While foamy macrophages, containing stored cholesterol, were found in the Npc1 nmf164 homozygous mice, a marked inflammatory response was found with inhaled HPBCD, both in mutant and wild-type animals...
May 2018: Journal of Applied Genetics
https://www.readbyqxmd.com/read/29392564/craniosynostosis-as-a-clinical-and-diagnostic-problem-molecular-pathology-and-genetic-counseling
#18
REVIEW
Anna Kutkowska-Kaźmierczak, Monika Gos, Ewa Obersztyn
Craniosynostosis (occurrence: 1/2500 live births) is a result of premature fusion of cranial sutures, leading to alterations of the pattern of cranial growth, resulting in abnormal shape of the head and dysmorphic facial features. In approximately 85% of cases, the disease is isolated and nonsyndromic and mainly involves only one suture. Syndromic craniosynostoses such as Crouzon, Apert, Pfeiffer, Muenke, and Saethre-Chotzen syndromes not only affect multiple sutures, but are also associated with the presence of additional clinical symptoms, including hand and feet malformations, skeletal and cardiac defects, developmental delay, and others...
May 2018: Journal of Applied Genetics
https://www.readbyqxmd.com/read/29372515/generation-of-transgenic-chickens-by-the-non-viral-cell-based-method-effectiveness-of-some-elements-of-this-strategy
#19
REVIEW
Marek Bednarczyk, Izabela Kozłowska, Paweł Łakota, Agata Szczerba, Katarzyna Stadnicka, Takashi Kuwana
Transgenic chickens have, in general, been produced by two different procedures. The first procedure is based on viral transfection systems. The second procedure, the non-viral method, is based on genetically modified embryonic cells transferred directly into the recipient embryo. In this review, we analyzed the effectiveness of important elements of the non-viral, cell-based strategy of transgenic chicken production. The main elements of this strategy are: isolation and cultivation of donor embryonic cells; transgene construction; cell transfection in vitro; and chimera production: injection of cells into recipient embryos, raising and identification of germline chimeras, mating germline chimeras, transgene inheritance, and transgene expression...
February 2018: Journal of Applied Genetics
https://www.readbyqxmd.com/read/29372514/gene-cloning-system-for-sulfonamide-mineralizing-microbacterium-sp-strain-br1
#20
I Ostash, B Kolvenbach, P F-X Corvini, V Fedorenko, B Ostash, Danuta Cichocka
The wide application of sulfonamide (SA) antibiotics in human and veterinary medicine contributes to the accumulation of these antibiotics in the environment and the corresponding onset of antibiotic resistance among bacteria. Microbacterium sp. BR1 is capable of mineralizing sulfamethoxazole and other SAs via a novel mechanism. The genetic basis of SA elimination by BR1 remains unknown. Development of an efficient plasmid transfer protocol for Microbacterium sp. BR1 is highly desirable, as it would open the door to genetic analysis and manipulation of its genome...
February 2018: Journal of Applied Genetics
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