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Journal of Applied Genetics

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https://read.qxmd.com/read/30706430/a-novel-wdr62-missense-mutation-in-microcephaly-with-abnormal-cortical-architecture-and-review-of-the-literature
#1
Melinda Zombor, Tibor Kalmár, Nikoletta Nagy, Marianne Berényi, Borbála Telcs, Zoltán Maróti, Oliver Brandau, László Sztriha
Autosomal recessive primary microcephaly (MCPH) is a group of rare neurodevelopmental diseases with severe microcephaly at birth. One type of the disorder, MCPH2, is caused by biallelic mutations in the WDR62 gene, which encodes the WD repeat-containing protein 62. Patients with WDR62 mutation may have a wide range of malformations of cortical development in addition to congenital microcephaly. We describe two patients, a boy and a girl, with severe congenital microcephaly, global developmental delay, epilepsy, and failure to thrive...
February 1, 2019: Journal of Applied Genetics
https://read.qxmd.com/read/30685825/diversifying-selection-signatures-among-divergently-selected-subpopulations-of-polish-red-cattle
#2
Artur Gurgul, I Jasielczuk, E Semik-Gurgul, T Szmatoła, A Majewska, E Sosin-Bzducha, M Bugno-Poniewierska
Polish Red cattle is one of the few indigenous breeds of European red cattle which is characterized by several desired features, such as high disease resistance, good health, longevity, good fertility, and high nutritional value of milk. Currently, Polish Red cattle population is a subject of two independent breeding programs: (i) improvement program and (ii) genetic resources conservation program. The aim of the improvement program is the genetic progress in terms of milk production and body conformation traits, while the conservation program mainly focuses on protection of the genetic resources of Polish Red cattle and preservation of the existing, original gene pool...
January 26, 2019: Journal of Applied Genetics
https://read.qxmd.com/read/30684136/analysis-of-allele-specific-expression-of-seven-candidate-genes-involved-in-lipid-metabolism-in-pig-skeletal-muscle-and-fat-tissues-reveals-allelic-imbalance-of-acaca-lep-scd-and-tnf
#3
Monika Stachowiak, Krzysztof Flisikowski
Analysis of allele-specific expression may help to elucidate the genetic architecture of complex traits including fat deposition in pigs. Here, we used pyrosequencing to investigate the allele proportions of candidate genes (ACACA, ADIPOR1, FASN, LEP, ME1, SCD, and TNF) involved in regulation of lipid metabolism in two fat deposits (subcutaneous and visceral fat) and longissimus dorsi muscle of pigs representing Polish Large White, Polish Landrace, Duroc, and Pietrain breeds. We detected differential allelic expression of ACACA, LEP, SCD, and TNF in all tissues analyzed...
January 26, 2019: Journal of Applied Genetics
https://read.qxmd.com/read/30684135/a-crash-course-in-sequencing-for-a-microbiologist
#4
REVIEW
Aleksandra Kozińska, Paulina Seweryn, Izabela Sitkiewicz
For the last 40 years, "Sanger sequencing" allowed to unveil crucial secrets of life. However, this method of sequencing has been time-consuming, laborious and remains expensive even today. Human Genome Project was a huge impulse to improve sequencing technologies, and unprecedented financial and human effort prompted the development of cheaper high-throughput technologies and strategies called next-generation sequencing (NGS) or whole genome sequencing (WGS). This review will discuss applications of high-throughput methods to study bacteria in a much broader context than simply their genomes...
January 25, 2019: Journal of Applied Genetics
https://read.qxmd.com/read/30666567/exome-sequencing-in-genomic-regions-related-to-racing-performance-of-quarter-horses
#5
Guilherme L Pereira, Jessica M Malheiros, Alejandra M T Ospina, Luis Artur L Chardulo, Rogério A Curi
Among horses selected for speed, the racing line of Quarter Horses is characterized by high performance in sprint races, with these animals being considered the fastest horses in the world. However, few studies have investigated in more detail the polymorphisms and genes that act on this trait. The objective of this study was to analyze exomes and UTRs in regions previously associated with this trait by GWAS in Quarter Horse racehorses with contrasting maximum speed index (SImax), prospecting causal gene polymorphisms that are related to or are in strong linkage disequilibrium with racing performance...
January 21, 2019: Journal of Applied Genetics
https://read.qxmd.com/read/30661225/meta-analysis-of-association-between-arg326gln-rs1503185-and-gln276pro-rs1566734-polymorphisms-of-ptprj-gene-and-cancer-risk
#6
Izabela Laczmanska, Maria M Sasiadek
Protein tyrosine phosphatase receptor type J (PTPRJ, DEP1) is a tumour suppressor gene that negatively regulates such processes as angiogenesis, cell proliferation and migration and is one of the genes important for tumour development. Similar to other phosphatase genes, PTPRJ is also described as an oncogene. Among various genetic changes characteristic for this gene, single nucleotide polymorphisms (SNPs) constituting benign genetic variants that can modulate its function have been described. We focused on Gln276Pro and Arg326Gln missense polymorphisms and performed a meta-analysis using data from 2930 and 852 patients for Gln276Pro and Arg326Gln respectively in different cancers...
January 19, 2019: Journal of Applied Genetics
https://read.qxmd.com/read/30627967/genetics-and-epigenetics-of-autism-spectrum-disorder-current-evidence-in-the-field
#7
REVIEW
Barbara Wiśniowiecka-Kowalnik, Beata Anna Nowakowska
Autism spectrum disorders (ASD) is a heterogenous group of neurodevelopmental disorders characterized by problems in social interaction and communication as well as the presence of repetitive and stereotyped behavior. It is estimated that the prevalence of ASD is 1-2% in the general population with the average male to female ratio 4-5:1. Although the causes of ASD remain largely unknown, the studies have shown that both genetic and environmental factors play an important role in the etiology of these disorders...
January 10, 2019: Journal of Applied Genetics
https://read.qxmd.com/read/30430379/diversity-and-mycotoxin-production-by-fusarium-temperatum-and-fusarium-subglutinans-as-causal-agents-of-pre-harvest-fusarium-maize-ear-rot-in-poland
#8
Ł Stępień, K Gromadzka, J Chełkowski, A Basińska-Barczak, J Lalak-Kańczugowska
Maize ear rot is a common disease found worldwide, caused by several toxigenic Fusarium species. Maize ears and kernels infected by Fusarium subglutinans contained significant amounts of beauvericin, fusaproliferin, moniliformin, and enniatins. In 2011, F. subglutinans sensu lato has been divided into two species: Fusarium temperatum sp. nov. and F. subglutinans sensu stricto, showing different phylogeny and beauvericin production within the populations of maize pathogens in Belgium. Isolates of the new species-F...
November 15, 2018: Journal of Applied Genetics
https://read.qxmd.com/read/30417315/the-ftsa-gene-as-a-molecular-marker-for-phylogenetic-studies-in-bradyrhizobium-and-identification-of-bradyrhizobium-japonicum
#9
Michał Kalita, Wanda Małek
The use of ftsA gene sequences for taxonomic studies of the genus Bradyrhizobium bacteria was assessed. The ftsA gene codes for an actin-like protein involved in prokaryotic cell division. Up to now, this gene has not been used as a phylogenetic marker for analysis of bacteria establishing root nodule symbiosis with Fabaceae plants. In this study, the ftsA gene sequences obtained for bradyrhizobia forming N2 fixing symbiosis with four Genisteae tribe plants growing in Poland and most of the type strains of the genus Bradyrhizobium species were analyzed and evaluated as molecular markers for phylogenetic studies of these bacteria for the first time...
November 11, 2018: Journal of Applied Genetics
https://read.qxmd.com/read/30414053/mapping-of-qtl-associated-with-seed-longevity-in-durum-wheat-triticum-durum-desf
#10
Mian Abdur Rehman Arif, Andreas Börner
Regeneration cycle of seeds kept at genebanks is determined by seed longevity. Information about longevity of species is important for storage periods, germination test intervals, and reproduction cycles. Seed longevity is different between species and depends on the storage conditions. It also differs between genotypes of a species providing the basis of genetic analyses of seed longevity. Studies in hexaploid wheat and barley have identified numerous quantitative trait locus (QTL) linked to the trait. Seed longevity in durum wheat, however, has not been attempted so far...
November 9, 2018: Journal of Applied Genetics
https://read.qxmd.com/read/30269313/the-molecular-and-phenotypic-characterization-of-fructophilic-lactic-acid-bacteria-isolated-from-the-guts-of-apis-mellifera-l-derived-from-a-polish-apiary
#11
Artur Pachla, Magdalena Wicha, Aneta A Ptaszyńska, Grzegorz Borsuk, Łucja Łaniewska -Trokenheim, Wanda Małek
This paper describes taxonomic position, phylogeny, and phenotypic properties of 14 lactic acid bacteria (LAB) originating from an Apis mellifera guts. Based on the 16S rDNA and recA gene sequence analyses, 12 lactic acid bacteria were assigned to Lactobacillus kunkeei and two others were classified as Fructobacillus fructosus. Biochemically, all isolated lactic acid bacteria showed typical fructophilic features and under anaerobic conditions grew well on fructose, but poorly on glucose. Fast growth of bacteria on glucose was noted in the presence of oxygen or fructose as external electron acceptors...
November 2018: Journal of Applied Genetics
https://read.qxmd.com/read/30259345/efficient-construction-of-streptococcus-anginosus-mutants-in-strains-of-clinical-origin
#12
Katarzyna Obszańska, Izabella Kern-Zdanowicz, Izabela Sitkiewicz
Streptococcus anginosus group (SAG) is Gram-positive bacteria responsible for a number of purulent human infections such as brain and liver abscesses, which have been on the rise for last few decades. Although some virulence factors of SAG are described, they are mostly undefined and there are almost no methods for genetic manipulations of clinical SAG. Therefore, we presented various approaches to produce engineered strains of this poorly known group of streptococci. We developed a procedure of transformation characterized by transformation efficiency at the level of 104 per 1 μg DNA for certain strains...
November 2018: Journal of Applied Genetics
https://read.qxmd.com/read/30255485/breaking-bad-news-in-genetic-counseling-problems-and-communication-tools
#13
REVIEW
Magdalena M Witt, Katarzyna A Jankowska
Breaking bad news is a common problem for clinical geneticists in their daily work. Just like doctors of other specialties, e.g., oncologists, they can use proven communication tools instead of relying only on professional sense. The latter is, of course, always the most important for experienced doctors, but the use of protocols such as SPIKES and EMPATHY facilitates both the delineation of difficult information and the process of its transmission. The article gives an overview of the best tools of this type available to medical professionals dealing with genetic counseling...
November 2018: Journal of Applied Genetics
https://read.qxmd.com/read/30251238/genomic-prediction-ability-for-beef-fatty-acid-profile-in-nelore-cattle-using-different-pseudo-phenotypes
#14
Hermenegildo Lucas Justino Chiaia, Elisa Peripolli, Rafael Medeiros de Oliveira Silva, Fabiele Loise Braga Feitosa, Marcos Vinícius Antunes de Lemos, Mariana Piatto Berton, Bianca Ferreira Olivieri, Rafael Espigolan, Rafael Lara Tonussi, Daniel Gustavo Mansan Gordo, Lucia Galvão de Albuquerque, Henrique Nunes de Oliveira, Adrielle Mathias Ferrinho, Lenise Freitas Mueller, Sabrina Kluska, Humberto Tonhati, Angélica Simone Cravo Pereira, Ignacio Aguilar, Fernando Baldi
The aim of the present study was to compare the predictive ability of SNP-BLUP model using different pseudo-phenotypes such as phenotype adjusted for fixed effects, estimated breeding value, and genomic estimated breeding value, using simulated and real data for beef FA profile of Nelore cattle finished in feedlot. A pedigree with phenotypes and genotypes of 10,000 animals were simulated, considering 50% of multiple sires in the pedigree. Regarding to phenotypes, two traits were simulated, one with high heritability (0...
November 2018: Journal of Applied Genetics
https://read.qxmd.com/read/30244407/identification-novel-lqt-syndrome-associated-variants-in-polish-population-and-genotype-phenotype-correlations-in-eight-families
#15
Małgorzata Szperl, Urszula Kozicka, Agnieszka Kosiec, Piotr Kukla, Marta Roszczynko, Elżbieta Katarzyna Biernacka
Congenital long QT syndrome (LQTS) is a primary cardiac channelopathy. Genetic testing has not only diagnostic but also prognostic and therapeutic implications. At present, 15 genes have been associated with the disease, with most mutations located in 3 major LQTS-susceptibility genes. During a routine genetic screening for KCNQ1, KCNH2 and SCN5A genes in index cases with LQTS, seven novel variants in KCNH2 and SCN5A genes were found. Genotype-phenotype correlations were analysed in these patients and their families...
November 2018: Journal of Applied Genetics
https://read.qxmd.com/read/30232619/reference-gene-validation-for-normalization-of-rt-qpcr-assay-associated-with-germination-and-survival-of-rice-under-hypoxic-condition
#16
Dhananjay Kumar, Prasanta Kumar Das, Bidyut Kumar Sarmah
Study on expression of genes for the traits associated with hypoxia tolerance during the germination demands robust choice of reference genes for transcript data normalization and gene validation through real-time quantitative polymerase chain reaction (RT-qPCR). However, reliability and stability of reference genes across different rice germplasms under hypoxic condition have not been accessed yet. Stability performance of reference genes such as eukaryotic elongation factor 1 α (eEF1α), ubiquitin 10 (UBQ10), glyceraldehyde 3-phosphate dehydrogenase (GAPDH), 18S ribosomal RNA (18SrRNA), 25S ribosomal RNA (25SrRNA), β-tublin (β-TUB), actin11 (ACT11), ubiquitin C (UBC), eukaryotic elongation factor 4 α (eIF4α), and ubiquitin5 (UBQ5) was accessed through statistical algorithms like geNorm, NormFinder, Comparative ΔCt method, BestKeeper, and RefFinder in three rice germplasms (KHO, RKB, and IR-64) with varied level of tolerance to hypoxic condition during germination...
November 2018: Journal of Applied Genetics
https://read.qxmd.com/read/30203143/myofibrillar-myopathy-in-the-genomic-context
#17
REVIEW
Jakub Piotr Fichna, Aleksandra Maruszak, Cezary Żekanowski
Myofibrillar myopathy (MFM) is a group of inherited muscular disorders characterized by myofibril dissolution and abnormal accumulation of degradation products. The diagnosis of muscular disorders based on clinical presentation is difficult due to phenotypic heterogeneity and overlapping symptoms. In addition, precise diagnosis does not always explain the disease etiopathology or the highly variable clinical course even among patients diagnosed with the same type of myopathy. The advent of high-throughput next-generation sequencing (NGS) has provided a successful and cost-effective strategy for identification of novel causative genes in myopathies, including MFM...
November 2018: Journal of Applied Genetics
https://read.qxmd.com/read/30159773/the-influence-of-al-3-on-dna-methylation-and-sequence-changes-in-the-triticale-%C3%A3-triticosecale-wittmack-genome
#18
Niedziela Agnieszka
Abiotic stressors such as drought, salinity, and exposure to heavy metals can induce epigenetic changes in plants. In this study, liquid chromatography (RP-HPLC), methylation amplified fragment length polymorphisms (metAFLP), and methylation-sensitive amplification polymorphisms (MSAP) analysis was used to investigate the effects of aluminum (Al) stress on DNA methylation levels in the crop species triticale. RP-HPLC, but not metAFLP or MSAP, revealed significant differences in methylation between Al-tolerant (T) and non-tolerant (NT) triticale lines...
November 2018: Journal of Applied Genetics
https://read.qxmd.com/read/30145695/elevated-expression-of-p53-in-early-colon-polyps-in-a-pig-model-of-human-familial-adenomatous-polyposis
#19
Agata Sikorska, Tatiana Flisikowska, Monika Stachowiak, Alexander Kind, Angelika Schnieke, Krzysztof Flisikowski, Marek Switonski
Familial adenomatous polyposis (FAP) is a hereditary predisposition to formation of colon polyps that can progress to colorectal cancer (CRC). The severity of polyposis varies substantially within families bearing the same germline mutation in the adenomatous polyposis coli (APC) tumour suppressor gene. The progressive step-wise accumulation of genetic events in tumour suppressor genes and oncogenes leads to oncogenic transformation, with driver alterations in the tumour protein p53 (TP53) gene playing a key role in advanced stage CRC...
November 2018: Journal of Applied Genetics
https://read.qxmd.com/read/30088231/htert-promoter-methylation-status-in-peripheral-blood-leukocytes-as-a-molecular-marker-of-head-and-neck-cancer-progression
#20
Agnieszka Sobecka, Wiktoria Blaszczak, Wojciech Barczak, Pawel Golusinski, Blazej Rubis, Michal M Masternak, Wiktoria M Suchorska, Wojciech Golusinski
Cancer cells, including head and neck cancer cell carcinoma (HNSCC), are characterized by an increased telomerase activity. This enzymatic complex is active in approximately 80-90% of all malignancies, and is regulated by various factors, including methylation status of hTERT gene promoter. hTERT methylation pattern has been thoroughly studied so far. It was proved that hTERT is aberrantly methylated in tumor tissue versus healthy counterparts. However, such effect has not yet been investigated in PBLs (peripheral blood leukocytes) of cancer patients...
November 2018: Journal of Applied Genetics
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