journal
MENU ▼
Read by QxMD icon Read
search

Frontiers in Genetics

journal
https://www.readbyqxmd.com/read/29770143/a-census-of-tandemly-repeated-polymorphic-loci-in-genic-regions-through-the-comparative-integration-of-human-genome-assemblies
#1
Loredana M Genovese, Filippo Geraci, Lucia Corrado, Eleonora Mangano, Romina D'Aurizio, Roberta Bordoni, Marco Severgnini, Giovanni Manzini, Gianluca De Bellis, Sandra D'Alfonso, Marco Pellegrini
Polymorphic Tandem Repeat (PTR) is a common form of polymorphism in the human genome. A PTR consists in a variation found in an individual (or in a population) of the number of repeating units of a Tandem Repeat (TR) locus of the genome with respect to the reference genome. Several phenotypic traits and diseases have been discovered to be strongly associated with or caused by specific PTR loci. PTR are further distinguished in two main classes: Short Tandem Repeats (STR) when the repeating unit has size up to 6 base pairs, and Variable Number Tandem Repeats (VNTR) for repeating units of size above 6 base pairs...
2018: Frontiers in Genetics
https://www.readbyqxmd.com/read/29760718/multiplexed-nanopore-sequencing-of-hla-b-locus-in-m%C3%A4-ori-and-pacific-island-samples
#2
Kim N T Ton, Simone L Cree, Sabine J Gronert-Sum, Tony R Merriman, Lisa K Stamp, Martin A Kennedy
The human leukocyte antigen (HLA) system encodes the human major histocompatibility complex (MHC). HLA-B is the most polymorphic gene in the MHC class I region and many HLA-B alleles have been associated with adverse drug reactions (ADRs) and disease susceptibility. The frequency of such HLA-B alleles varies by ethnicity, and therefore it is important to understand the prevalence of such alleles in different population groups. Research into HLA involvement in ADRs would be facilitated by improved methods for genotyping key HLA-B alleles...
2018: Frontiers in Genetics
https://www.readbyqxmd.com/read/29760717/reduced-neuronal-transcription-of-escargot-the-drosophila-gene-encoding-a-snail-type-transcription-factor-promotes-longevity
#3
Alexander V Symonenko, Natalia V Roshina, Anna V Krementsova, Elena G Pasyukova
In recent years, several genes involved in complex neuron specification networks have been shown to control life span. However, information on these genes is scattered, and studies to discover new neuronal genes and gene cascades contributing to life span control are needed, especially because of the recognized role of the nervous system in governing homeostasis, aging, and longevity. Previously, we demonstrated that several genes that encode RNA polymerase II transcription factors and that are involved in the development of the nervous system affect life span in Drosophila melanogaster ...
2018: Frontiers in Genetics
https://www.readbyqxmd.com/read/29755507/computational-protein-phenotype-characterization-of-il10ra-mutations-causative-to-early-onset-inflammatory-bowel-disease-ibd
#4
Fahad A Al-Abbasi, Kaleemuddin Mohammed, Saida Sadath, Babajan Banaganapalli, Khalidah Nasser, Noor A Shaik
The deleterious amino acid substitution mutations in IL-10 receptor alpha gene are most frequently reported in several autoimmune diseases including early onset-inflammatory bowel disease (IBD). Despite the important role of IL-10 RA in maintaining immune homeostasis, the specific structural and functional implications of these mutations on protein phenotype, stability, ligand binding and post translational characteristics is not well explored. Therefore, this study performed the multidimensional computational analysis of IL10RA missense variations causative to pediatric or early onset inflammatory bowel disease (<5 years of age)...
2018: Frontiers in Genetics
https://www.readbyqxmd.com/read/29755506/genome-wide-association-study-for-susceptibility-to-and-recoverability-from-mastitis-in-danish-holstein-cows
#5
B G Welderufael, Peter Løvendahl, Dirk-Jan de Koning, Lucas L G Janss, W F Fikse
Because mastitis is very frequent and unavoidable, adding recovery information into the analysis for genetic evaluation of mastitis is of great interest from economical and animal welfare point of view. Here we have performed genome-wide association studies (GWAS) to identify associated single nucleotide polymorphisms (SNPs) and investigate the genetic background not only for susceptibility to - but also for recoverability from mastitis. Somatic cell count records from 993 Danish Holstein cows genotyped for a total of 39378 autosomal SNP markers were used for the association analysis...
2018: Frontiers in Genetics
https://www.readbyqxmd.com/read/29755505/integrative-analysis-identifies-genetic-variants-associated-with-autoimmune-diseases-affecting-putative-microrna-binding-sites
#6
Rodrigo C de Almeida, Vinícius S Chagas, Mauro A A Castro, Maria L Petzl-Erler
Genome-wide and fine mapping studies have shown that more than 90% of genetic variants associated with autoimmune diseases (AID) are located in non-coding regions of the human genome and especially in regulatory sequences, including microRNAs (miRNA) target sites. MiRNAs are small endogenous noncoding RNAs that modulate gene expression at the post-transcriptional level. Single nucleotide polymorphisms (SNPs) located within the 3' untranslated region of their target mRNAs (miRSNP) can alter miRNA binding sites...
2018: Frontiers in Genetics
https://www.readbyqxmd.com/read/29755504/molecular-identification-of-shark-meat-from-local-markets-in-southern-brazil-based-on-dna-barcoding-evidence-for-mislabeling-and-trade-of-endangered-species
#7
Fernanda Almerón-Souza, Christian Sperb, Carolina L Castilho, Pedro I C C Figueiredo, Leonardo T Gonçalves, Rodrigo Machado, Larissa R Oliveira, Victor H Valiati, Nelson J R Fagundes
Elasmobranchs, the group of cartilaginous fishes that include sharks and rays, are especially vulnerable to overfishing due to low fecundity and late sexual maturation. A significant number of elasmobranch species are currently overexploited or threatened by fisheries activities. Additionally, several recent reports have indicated that there has been a reduction in regional elasmobranch population sizes. Brazil is an important player in elasmobranch fisheries and one of the largest importers of shark meat. However, carcasses entering the shark meat market have usually had their fins and head removed, which poses a challenge to reliable species identification based on the morphology of captured individuals...
2018: Frontiers in Genetics
https://www.readbyqxmd.com/read/29755503/genome-wide-association-analysis-of-age-dependent-egg-weights-in-chickens
#8
Zhuang Liu, Congjiao Sun, Yiyuan Yan, Guangqi Li, Guiqin Wu, Aiqiao Liu, Ning Yang
Egg weight (EW) is an economically-important trait and displays a consecutive increase with the hen's age. Because extremely large eggs cause a range of problems in the poultry industry, we performed a genome-wide association study (GWAS) in order to identify genomic variations that are associated with EW. We utilized the Affymetrix 600 K high density SNP array in a population of 1,078 hens at seven time points from day at first egg to 80 weeks age (EW80). Results reveal that a 90 Kb genomic region (169.42 Mb ~ 169...
2018: Frontiers in Genetics
https://www.readbyqxmd.com/read/29741164/corrigendum-defining-the-damaged-dna-mobility-paradox-as-revealed-by-the-study-of-telomeres-dsbs-microtubules-and-motors
#9
Karim Mekhail
[This corrects the article on p. 95 in vol. 9, PMID: 29616083.].
2018: Frontiers in Genetics
https://www.readbyqxmd.com/read/29740480/estimating-the-intra-taxa-diversity-population-genetic-structure-and-evolutionary-pathways-of-cryptococcus-neoformans-and-cryptococcus-gattii
#10
Marina Muñoz, Milena Camargo, Juan D Ramírez
Members of the Cryptococcus complex, includes Cryptococcus neoformans (most common fungal infection of the brain) and Cryptococcus gattii (high-impact emerging pathogen worldwide). Currently, the fungal multilocus sequence typing database (Fungal MLST Database) constitutes a valuable data repository of the genes used for molecular typing of these pathogens. We analyzed the data available in the Fungal MLST Database for seven housekeeping genes, with the aim to evaluate its contribution in the description of intra-taxa diversity, population genetic structure, and evolutionary patterns...
2018: Frontiers in Genetics
https://www.readbyqxmd.com/read/29740479/a-new-single-nucleotide-polymorphism-database-for-rainbow-trout-generated-through-whole-genome-resequencing
#11
Guangtu Gao, Torfinn Nome, Devon E Pearse, Thomas Moen, Kerry A Naish, Gary H Thorgaard, Sigbjørn Lien, Yniv Palti
Single-nucleotide polymorphisms (SNPs) are highly abundant markers, which are broadly distributed in animal genomes. For rainbow trout ( Oncorhynchus mykiss ), SNP discovery has been previously done through sequencing of restriction-site associated DNA (RAD) libraries, reduced representation libraries (RRL) and RNA sequencing. Recently we have performed high coverage whole genome resequencing with 61 unrelated samples, representing a wide range of rainbow trout and steelhead populations, with 49 new samples added to 12 aquaculture samples from AquaGen (Norway) that we previously used for SNP discovery...
2018: Frontiers in Genetics
https://www.readbyqxmd.com/read/29740478/a-novel-whole-gene-deletion-of-bckdhb-by-alu-mediated-non-allelic-recombination-in-a-chinese-patient-with-maple-syrup-urine-disease
#12
Gang Liu, Dingyuan Ma, Ping Hu, Wen Wang, Chunyu Luo, Yan Wang, Yun Sun, Jingjing Zhang, Tao Jiang, Zhengfeng Xu
Maple syrup urine disease (MSUD) is an autosomal recessive inherited metabolic disorder caused by mutations in the BCKDHA, BCKDHB, DBT , and DLD genes. Among the wide range of disease-causing mutations in BCKDHB , only one large deletion has been associated with MSUD. Compound heterozygous mutations in BCKDHB were identified in a Chinese patient with typical MSUD using next-generation sequencing, quantitative PCR, and array comparative genomic hybridization. One allele presented a missense mutation (c.391G > A), while the other allele had a large deletion; both were inherited from the patient's unaffected parents...
2018: Frontiers in Genetics
https://www.readbyqxmd.com/read/29740477/determination-of-oocyte-manipulation-zygote-manipulation-and-genome-reprogramming-effects-on-the-transcriptomes-of-bovine-blastocysts
#13
Byungkuk Min, Jung S Park, Yong-Kook Kang
Somatic cell nuclear transfer (scNT) embryos suffer from damage caused by micro-operation (manipulation) and inefficient genome reprograming that hinder their normal development at different levels and in distinct ways. These two effects are inseparable in the nature of the scNT embryo, although methods to separately measure them are needed to improve scNT technology and evaluate incoming reprogramming tools. As an attempt to meet these demands, we made bovine sham nuclear-transfer (shNT) blastocysts, special embryos made with a standard nuclear-transfer procedure at the zygote stage, while retaining an intact genome...
2018: Frontiers in Genetics
https://www.readbyqxmd.com/read/29740476/milk-composition-for-admixed-dairy-cattle-in-tanzania
#14
Evans K Cheruiyot, Rawlynce C Bett, Joshua O Amimo, Fidalis D N Mujibi
It is well established that milk composition is affected by the breed and genotype of a cow. The present study investigated the relationship between the proportion of exotic genes and milk composition in Tanzanian crossbred dairy cows. Milk samples were collected from 209 animals kept under smallholder production systems in Rungwe and Lushoto districts of Tanzania. The milk samples were analyzed for the content of components including fat, protein, casein, lactose, solids-not-fat (SNF), and the total solids (TS) through infrared spectroscopy using Milko-Scan FT1 analyzer (Foss Electric, Denmark)...
2018: Frontiers in Genetics
https://www.readbyqxmd.com/read/29740475/dose-response-and-prediction-characteristics-of-a-methylation-sensitive-digital-pcr-assay-for-cigarette-consumption-in-adults
#15
Robert Philibert, Meesha Dogan, Amanda Noel, Shelly Miller, Brianna Krukow, Emma Papworth, Joseph Cowley, Jeffrey D Long, Steven R H Beach, Donald W Black
The tobacco use disorders are the largest preventable cause of morbidity and mortality in the world. A substantial barrier to the development of better intervention and screening measures is the lack of clinically employable biomarkers to detect the existence and extent of tobacco consumption. In prior work, we and others have shown that array based assessment of DNA methylation status at cg05575921 is a sensitive and quantitative method for assessing cigarette consumption. Unfortunately, in general, arrays are not practical clinical tools...
2018: Frontiers in Genetics
https://www.readbyqxmd.com/read/29740474/integrated-quantitative-transcriptome-maps-of-human-trisomy-21-tissues-and-cells
#16
Maria Chiara Pelleri, Chiara Cattani, Lorenza Vitale, Francesca Antonaros, Pierluigi Strippoli, Chiara Locatelli, Guido Cocchi, Allison Piovesan, Maria Caracausi
Down syndrome (DS) is due to the presence of an extra full or partial chromosome 21 (Hsa21). The identification of genes contributing to DS pathogenesis could be the key to any rational therapy of the associated intellectual disability. We aim at generating quantitative transcriptome maps in DS integrating all gene expression profile datasets available for any cell type or tissue, to obtain a complete model of the transcriptome in terms of both expression values for each gene and segmental trend of gene expression along each chromosome...
2018: Frontiers in Genetics
https://www.readbyqxmd.com/read/29740473/empirical-bayes-estimation-of-semi-parametric-hierarchical-mixture-models-for-unbiased-characterization-of-polygenic-disease-architectures
#17
Jo Nishino, Yuta Kochi, Daichi Shigemizu, Mamoru Kato, Katsunori Ikari, Hidenori Ochi, Hisashi Noma, Kota Matsui, Takashi Morizono, Keith A Boroevich, Tatsuhiko Tsunoda, Shigeyuki Matsui
Genome-wide association studies (GWAS) suggest that the genetic architecture of complex diseases consists of unexpectedly numerous variants with small effect sizes. However, the polygenic architectures of many diseases have not been well characterized due to lack of simple and fast methods for unbiased estimation of the underlying proportion of disease-associated variants and their effect-size distribution. Applying empirical Bayes estimation of semi-parametric hierarchical mixture models to GWAS summary statistics, we confirmed that schizophrenia was extremely polygenic [~40% of independent genome-wide SNPs are risk variants, most within odds ratio (OR = 1...
2018: Frontiers in Genetics
https://www.readbyqxmd.com/read/29731768/timp3-overexpression-improves-the-sensitivity-of-osteosarcoma-to-cisplatin-by-reducing-il-6-production
#18
Xiu-Guo Han, Hui-Min Mo, Xu-Qiang Liu, Yan Li, Lin Du, Han Qiao, Qi-Ming Fan, Jie Zhao, Shu-Hong Zhang, Ting-Ting Tang
Osteosarcoma is the most common bone cancer in children and adolescents. Tissue inhibitors of metalloproteinases (TIMPs)-3 inhibit matrix metalloproteinases to limit extracellular matrix degradation. Cisplatin is a widely used chemotherapeutic drug used to cure osteosarcoma. Interleukin (IL)-6 and TIMP3 play important roles in the drug resistance of osteosarcoma; however, their relationship in this process remains unclear. This study aimed to explore the role of TIMP3 in the cisplatin sensitivity of osteosarcoma and its underlying molecular mechanisms in vitro and in vivo ...
2018: Frontiers in Genetics
https://www.readbyqxmd.com/read/29731767/whole-exome-sequencing-identified-a-novel-heterozygous-mutation-in-hmbs-gene-in-a-chinese-patient-with-acute-intermittent-porphyria-with-rare-type-of-mild-anemia
#19
Yongjiang Zheng, Jiehua Xu, Shengran Liang, Dongjun Lin, Santasree Banerjee
Acute intermittent porphyria (AIP) is a rare hereditary metabolic disease with an autosomal dominant mode of inheritance. Germline mutations of HMBS gene causes AIP. Mutation of HMBS gene results into the partial deficiency of the heme biosynthetic enzyme hydroxymethylbilane synthase. AIP is clinically manifested with abdominal pain, vomiting, and neurological complaints. Additionally, an extreme phenotypic heterogeneity has been reported in AIP patients with mutations in HMBS gene. Here, we investigated a Chinese patient with AIP...
2018: Frontiers in Genetics
https://www.readbyqxmd.com/read/29731766/expanded-newborn-screening-for-inborn-errors-of-metabolism-and-genetic-characteristics-in-a-chinese-population
#20
Kejian Guo, Xuan Zhou, Xigui Chen, Yili Wu, Chuanxin Liu, Qingsheng Kong
The incidence of inborn errors of metabolisms (IEMs) varies dramatically in different countries and regions. Expanded newborn screening for IEMs by tandem mass spectrometry (MS/MS) is an efficient approach for early diagnosis and presymptomatic treatment to prevent severe permanent sequelae and death. To determine the characteristics of IEMs and IEMs-associated mutations in newborns in Jining area, China, 48,297 healthy neonates were recruited for expanded newborn screening by MS/MS. The incidence of IEMs was 1/1178 in Jining, while methylmalonic acidemia, phenylketonuria, and primary carnitine deficiency ranked the top 3 of all detected IEMs...
2018: Frontiers in Genetics
journal
journal
43579
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"