Search Results - "Journal of applied genetics"

Splicing mutations in human genetic disorders: examples, detection, and confirmation by Anna, Abramowicz, Monika, Gos

“…Precise pre-mRNA splicing, essential for appropriate protein translation, depends on the presence of consensus “cis” sequences that define exon-intron…”
Get full text

Reference genes in real-time PCR by Kozera, Bartłomiej, Rapacz, Marcin

“…This paper aims to discuss various aspects of the use of reference genes in qPCR technique used in the thousands of present studies. Most frequently, these are…”
Get full text

Genetics and epigenetics of autism spectrum disorder—current evidence in the field by Wiśniowiecka-Kowalnik, Barbara, Nowakowska, Beata Anna

“…Autism spectrum disorders (ASD) is a heterogenous group of neurodevelopmental disorders characterized by problems in social interaction and communication as…”
Get full text

Polycyclic aromatic hydrocarbons and PAH-related DNA adducts by Ewa, Błaszczyk, Danuta, Mielżyńska-Švach

“…Investigations on the impact of chemicals on the environment and human health have led to the development of an exposome concept. The exposome refers to the…”
Get full text

Sequencing technologies and genome sequencing by Pareek, Chandra Shekhar, Smoczynski, Rafal, Tretyn, Andrzej

“…The high-throughput - next generation sequencing (HT-NGS) technologies are currently the hottest topic in the field of human and animals genomics researches,…”
Get full text

DNA repair in cancer initiation, progression, and therapy—a double-edged sword by Kiwerska, Katarzyna, Szyfter, Krzysztof

“…Genomic and mitochondrial DNA molecules are exposed continuously for a damaging activity of chemical, physical, and internal genotoxicants. When DNA repair…”
Get full text

Advances in monitoring soil microbial community dynamic and function by Nkongolo, K. K., Narendrula-Kotha, R.

“…Microorganisms are vital to the overall ecosystem functioning, stability, and sustainability. Soil fertility and health depend on chemical composition and also…”
Get full text

Clinical interpretation of copy number variants in the human genome by Nowakowska, Beata

“…Molecular methods, by which copy number variants (CNVs) detection is available, have been gradually introduced into routine diagnostics over the last 15 years…”
Get full text

Clinical cases, drug resistance, and virulence genes profiling in Uropathogenic Escherichia coli by Hozzari, Ali, Behzadi, Payam, Kerishchi Khiabani, Parisa, Sholeh, Mohammad, Sabokroo, Niloofar

“…Uropathogenic Escherichia coli (UPEC) as the most important bacterial agent of urinary tract infections (UTIs) encompasses a wide treasure of virulence genes…”
Get full text

Genotype by environment interaction using AMMI model and estimation of additive and epistasis gene effects for 1000-kernel weight in spring barley (Hordeum vulgare L.) by Bocianowski, Jan, Warzecha, Tomasz, Nowosad, Kamila, Bathelt, Roman

“…The objective of this study was to assess genotype by environment interaction for 1000-kernel weight in spring barley lines grown in South Poland by the…”
Get full text

Antimutagenic compounds and their possible mechanisms of action by Słoczyńska, Karolina, Powroźnik, Beata, Pękala, Elżbieta, Waszkielewicz, Anna M

“…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…”
Get full text

Genetic control of bacterial biofilms by Wolska, Krystyna I., Grudniak, Anna M., Rudnicka, Zofia, Markowska, Katarzyna

“…Nearly all bacterial species, including pathogens, have the ability to form biofilms. Biofilms are defined as structured ecosystems in which microbes are…”
Get full text

Nuclear genes involved in mitochondrial diseases caused by instability of mitochondrial DNA by Rusecka, Joanna, Kaliszewska, Magdalena, Bartnik, Ewa, Tońska, Katarzyna

“…Mitochondrial diseases are defined by a respiratory chain dysfunction and in most of the cases manifest as multisystem disorders with predominant expression in…”
Get full text

A GBS-based GWAS analysis of adaptability and yield traits in bread wheat (Triticum aestivum L.) by Akram, Saba, Arif, Mian Abdur Rehman, Hameed, Amjad

“…Wheat is a foremost food grain of Pakistan and occupies a vital position in agricultural policies of the country. Wheat demand will be increased by 60% by 2050…”
Get full text

Poor evidence for host-dependent regular RNA editing in the transcriptome of SARS-CoV-2 by Zong, Jinbao, Zhang, Yanping, Guo, Fenfen, Wang, Changyuan, Li, Hong, Lin, Gaoyang, Jiang, Wenqing, Song, Xiaoping, Zhang, Xiufang, Huang, Feng, Qi, Min, Zheng, Xin

Get full text

Development of multinutrient-rich biofortified sweet corn hybrids through genomics-assisted selection of shrunken2, opaque2, lcyE and crtRB1 genes by Baveja, Aanchal, Muthusamy, Vignesh, Panda, Kusuma Kumari, Zunjare, Rajkumar Uttamrao, Das, Abhijit Kumar, Chhabra, Rashmi, Mishra, Subhra Jyotshna, Mehta, Brijesh Kumar, Saha, Supradip, Hossain, Firoz

“…Sweet corn has gained worldwide popularity. Traditional sweet corn possesses low concentration of essential nutrients such as lysine (0.15–0.25%), tryptophan…”
Get full text

Biallelic mutations in CYP24A1 or SLC34A1 as a cause of infantile idiopathic hypercalcemia (IIH) with vitamin D hypersensitivity: molecular study of 11 historical IIH cases by Pronicka, Ewa, Ciara, Elżbieta, Halat, Paulina, Janiec, Agnieszka, Wójcik, Marek, Rowińska, Elżbieta, Rokicki, Dariusz, Płudowski, Paweł, Wojciechowska, Ewa, Wierzbicka, Aldona, Książyk, Janusz B., Jacoszek, Agnieszka, Konrad, Martin, Schlingmann, Karl P., Litwin, Mieczysław

“…Idiopathic infantile hypercalcemia (IIH) is a mineral metabolism disorder characterized by severe hypercalcemia, failure to thrive, vomiting, dehydration, and…”
Get full text

Enhancement of nutritional quality in maize kernel through marker-assisted breeding for vte4, crtRB1, and opaque2 genes by Hossain, Firoz, Jaiswal, Sunil K., Muthusamy, Vignesh, Zunjare, Rajkumar U., Mishra, Subhra J., Chand, Gulab, Bhatt, Vinay, Bhat, Jayant S., Das, Abhijit K., Chauhan, Hema S., Gupta, Hari S.

“…Traditional maize is poor in vitamin-E [α-tocopherol (α-T): 6–8 ppm], vitamin-A [provitamin-A (proA): 1–2ppm], lysine (0.150–0.2–50%), and tryptophan…”
Get full text

Misdiagnosis in mucopolysaccharidoses by Wiśniewska, Karolina, Wolski, Jakub, Gaffke, Lidia, Cyske, Zuzanna, Pierzynowska, Karolina, Węgrzyn, Grzegorz

“…Mucopolysaccharidosis (MPS) is a group of 13 hereditary metabolic diseases identified in humans (or 14 diseases if considering one MPS type described to date…”
Get full text

20 years since the introduction of DNA barcoding: from theory to application by Fišer Pečnikar, Živa, Buzan, Elena V

“…Traditionally, taxonomic identification has relied upon morphological characters. In the last two decades, molecular tools based on DNA sequences of short…”
Get full text