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BMC Genetics

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https://www.readbyqxmd.com/read/28103813/fat-mass-and-obesity-associated-fto-gene-influences-skeletal-muscle-phenotypes-in-non-resistance-trained-males-and-elite-rugby-playing-position
#1
S M Heffernan, G K Stebbings, L P Kilduff, R M Erskine, S H Day, C I Morse, J S McPhee, C J Cook, B Vance, W J Ribbans, S M Raleigh, C Roberts, M A Bennett, G Wang, M Collins, Y P Pitsiladis, A G Williams
BACKGROUND: FTO gene variants have been associated with obesity phenotypes in sedentary and obese populations, but rarely with skeletal muscle and elite athlete phenotypes. METHODS: In 1089 participants, comprising 530 elite rugby athletes and 559 non-athletes, DNA was collected and genotyped for the FTO rs9939609 variant using real-time PCR. In a subgroup of non-resistance trained individuals (NT; n = 120), we also assessed structural and functional skeletal muscle phenotypes using dual energy x-ray absorptiometry, ultrasound and isokinetic dynamometry...
January 19, 2017: BMC Genetics
https://www.readbyqxmd.com/read/28103792/diagnosis-implications-of-the-whole-genome-sequencing-in-a-large-lebanese-family-with-hyaline-fibromatosis-syndrome
#2
Zahraa Haidar, Ramzi Temanni, Eliane Chouery, Puthen Jitesh, Wei Liu, Rashid Al-Ali, Ena Wang, Francesco M Marincola, Nadine Jalkh, Soha Haddad, Wassim Haidar, Lotfi Chouchane, André Mégarbané
BACKGROUND: Hyaline fibromatosis syndrome (HFS) is a recently introduced alternative term for two disorders that were previously known as juvenile hyaline fibromatosis (JHF) and infantile systemic hyalinosis (ISH). These two variants are secondary to mutations in the anthrax toxin receptor 2 gene (ANTXR2) located on chromosome 4q21. The main clinical features of both entities include papular and/or nodular skin lesions, gingival hyperplasia, joint contractures and osteolytic bone lesions that appear in the first few years of life, and the syndrome typically progresses with the appearance of new lesions...
January 19, 2017: BMC Genetics
https://www.readbyqxmd.com/read/28103790/microrna-146a-rs2910164-is-associated-with-severe-preeclampsia-in-black-south-african-women-on-haart
#3
Niren Ray Maharaj, Prithiksha Ramkaran, Siddharthiya Pillay, Anil Amichund Chuturgoon
BACKGROUND: South African (SA) Black women have a high prevalence of preeclampsia and HIV, both conditions associated with increased inflammation. miR-146a is an inflammatory-associated miR and a common single nucleotide polymorphism (rs2910164) has been associated with several disease conditions. To date, this SNP has not been investigated in SA Black women. We therefore aimed to investigate the miR-146a G > C SNP in SA Blacks with preeclampsia, and further examine possible association among preeclamptic (PE) women with HIV infection on HAART...
January 19, 2017: BMC Genetics
https://www.readbyqxmd.com/read/28100165/genomic-predictions-for-economically-important-traits-in-brazilian-braford-and-hereford-beef-cattle-using-true-and-imputed-genotypes
#4
Mario L Piccoli, Luiz F Brito, José Braccini, Fernando F Cardoso, Mehdi Sargolzaei, Flávio S Schenkel
BACKGROUND: Genomic selection (GS) has played an important role in cattle breeding programs. However, genotyping prices are still a challenge for implementation of GS in beef cattle and there is still a lack of information about the use of low-density Single Nucleotide Polymorphisms (SNP) chip panels for genomic predictions in breeds such as Brazilian Braford and Hereford. Therefore, this study investigated the effect of using imputed genotypes in the accuracy of genomic predictions for twenty economically important traits in Brazilian Braford and Hereford beef cattle...
January 18, 2017: BMC Genetics
https://www.readbyqxmd.com/read/28056775/genetic-effects-and-genotype%C3%A2-%C3%A3-%C3%A2-environment-interactions-govern-seed-oil-content-in-brassica-napus-l
#5
Yanli Guo, Ping Si, Nan Wang, Jing Wen, Bin Yi, Chaozhi Ma, Jinxing Tu, Jitao Zou, Tingdong Fu, Jinxiong Shen
BACKGROUND: As seed oil content (OC) is a key measure of rapeseed quality, better understanding the genetic basis of OC would greatly facilitate the breeding of high-oil cultivars. Here, we investigated the components of genetic effects and genotype × environment interactions (GE) that govern OC using a full diallel set of nine parents, which represented a wide range of the Chinese rapeseed cultivars and pure lines with various OCs. RESULTS: Our results from an embryo-cytoplasm-maternal (GoCGm) model for diploid seeds showed that OC was primarily determined by genetic effects (VG) and GE (VGE), which together accounted for 86...
January 5, 2017: BMC Genetics
https://www.readbyqxmd.com/read/28105937/effect-of-lentivirus-mediated-shrna-inactivation-of-hk1-hk2-and-hk3-genes-in-colorectal-cancer-and-melanoma-cells
#6
Anna V Kudryavtseva, Maria S Fedorova, Alex Zhavoronkov, Alexey A Moskalev, Alexander S Zasedatelev, Alexey A Dmitriev, Asiya F Sadritdinova, Irina Y Karpova, Kirill M Nyushko, Dmitry V Kalinin, Nadezhda N Volchenko, Nataliya V Melnikova, Kseniya M Klimina, Dmitry V Sidorov, Anatoly Y Popov, Tatiana V Nasedkina, Andrey D Kaprin, Boris Y Alekseev, George S Krasnov, Anastasiya V Snezhkina
BACKGROUND: The switch from oxidative phosphorylation to glycolysis in proliferating cancer cells, even under aerobic conditions, has been shown first in 1926 by Otto Warburg. Today this phenomenon is known as the "Warburg effect" and recognized as a hallmark of cancer. The metabolic shift to glycolysis is associated with the alterations in signaling pathways involved in energy metabolism, including glucose uptake and fermentation, and regulation of mitochondrial functions. Hexokinases (HKs), which catalyze the first step of glycolysis, have been identified to play a role in tumorigenesis of human colorectal cancer (CRC) and melanoma...
December 22, 2016: BMC Genetics
https://www.readbyqxmd.com/read/28105935/computational-models-in-genetics-at-bgrs-sb-2016-introductory-note
#7
EDITORIAL
Yuriy L Orlov, Ancha V Baranova, Arcady L Markel
No abstract text is available yet for this article.
December 22, 2016: BMC Genetics
https://www.readbyqxmd.com/read/28105933/haploid-yeast-cells-undergo-a-reversible-phenotypic-switch-associated-with-chromosome-ii-copy-number
#8
Polina Drozdova, Ludmila Mironova, Galina Zhouravleva
BACKGROUND: SUP35 and SUP45 are essential genes encoding polypeptide chain release factors. However, mutants for these genes may be viable but display pleiotropic phenotypes which include, but are not limited to, nonsense suppressor phenotype due to translation termination defect. [PSI (+)] prion formation is another Sup35p-associated mechanism leading to nonsense suppression through decreased availability of functional Sup35p. [PSI (+)] differs from genuine sup35 mutations by the possibility of its elimination and subsequent re-induction...
December 22, 2016: BMC Genetics
https://www.readbyqxmd.com/read/28105932/genes-of-susceptibility-to-early-neurodegenerative-changes-in-the-rat-retina-and-brain-analysis-by-means-of-congenic-strains
#9
Elena E Korbolina, Anna A Zhdankina, Anzhela Zh Fursova, Oyuna S Kozhevnikova, Natalia G Kolosova
BACKGROUND: There has been considerable interest in discovery of the genetic architecture of complex traits, particularly age-related neurodegenerative disorders. To predict disease risk and to understand its genetic basis in humans, it is necessary to study animal models. Our previous research on the accelerated-senescence OXYS strain has revealed two quantitative trait loci (QTLs) on rat chromosome 1 that are associated with early cataract and/or retinopathy as well as with behavioral abnormalities...
December 22, 2016: BMC Genetics
https://www.readbyqxmd.com/read/28105931/regulatory-single-nucleotide-polymorphisms-rsnps-at-the-promoters-1a-and-1b-of-the-human-apc-gene
#10
Marina Yu Matveeva, Elena V Kashina, Vasily V Reshetnikov, Leonid O Bryzgalov, Elena V Antontseva, Natalia P Bondar, Tatiana I Merkulova
BACKGROUND: Germline mutations in the coding sequence of the tumour suppressor APC gene give rise to familial adenomatous polyposis (which leads to colorectal cancer) and are associated with many other oncopathologies. The loss of APC function because of deletion of putative promoter 1A or 1B also results in the development of colorectal cancer. Since the regions of promoters 1A and 1B contain many single nucleotide polymorphisms (SNPs), the aim of this study was to perform functional analysis of some of these SNPs by means of an electrophoretic mobility shift assay (EMSA) and a luciferase reporter assay...
December 22, 2016: BMC Genetics
https://www.readbyqxmd.com/read/28105930/genetic-diversity-among-eight-dendrolimus-species-in-eurasia-lepidoptera-lasiocampidae-inferred-from-mitochondrial-coi-and-coii-and-nuclear-its2-markers
#11
Alexander Kononov, Kirill Ustyantsev, Baode Wang, Victor C Mastro, Victor Fet, Alexander Blinov, Yuri Baranchikov
BACKGROUND: Moths of genus Dendrolimus (Lepidoptera: Lasiocampidae) are among the major pests of coniferous forests worldwide. Taxonomy and nomenclature of this genus are not entirely established, and there are many species with a controversial taxonomic position. We present a comparative evolutionary analysis of the most economically important Dendrolimus species in Eurasia. RESULTS: Our analysis was based on the nucleotide sequences of COI and COII mitochondrial genes and ITS2 spacer of nuclear ribosomal genes...
December 22, 2016: BMC Genetics
https://www.readbyqxmd.com/read/28105929/a-compendium-of-human-genes-regulating-feeding-behavior-and-body-weight-its-functional-characterization-and-identification-of-gwas-genes-involved-in-brain-specific-ppi-network
#12
Elena V Ignatieva, Dmitry A Afonnikov, Olga V Saik, Evgeny I Rogaev, Nikolay A Kolchanov
BACKGROUND: Obesity is heritable. It predisposes to many diseases. The objectives of this study were to create a compendium of genes relevant to feeding behavior (FB) and/or body weight (BW) regulation; to construct and to analyze networks formed by associations between genes/proteins; and to identify the most significant genes, biological processes/pathways, and tissues/organs involved in BW regulation. RESULTS: The compendium of genes controlling FB or BW includes 578 human genes...
December 22, 2016: BMC Genetics
https://www.readbyqxmd.com/read/28105926/the-gene-expression-profile-of-renal-medulla-in-isiah-rats-with-inherited-stress-induced-arterial-hypertension
#13
Marina A Ryazanova, Larisa A Fedoseeva, Nikita I Ershov, Vadim M Efimov, Arcady L Markel, Olga E Redina
BACKGROUND: The changes in the renal function leading to a reduction of medullary blood flow can have a great impact on sodium and water homeostasis and on the long-term control of arterial blood pressure. The RNA-Seq approach was used for transcriptome profiling of the renal medulla from hypertensive ISIAH and normotensive WAG rats to uncover the genetic basis of the changes underlying the renal medulla function in the ISIAH rats being a model of the stress-sensitive arterial hypertension and to reveal the genes which possibly may contribute to the alterations in medullary blood flow...
December 22, 2016: BMC Genetics
https://www.readbyqxmd.com/read/27919229/unique-nucleolar-dominance-patterns-in-distant-hybrid-lineage-derived-from-megalobrama-amblycephala%C3%A2-%C3%A3-%C3%A2-culter-alburnus
#14
Jun Xiao, Fangzhou Hu, Kaikun Luo, Wuhui Li, Shaojun Liu
BACKGROUND: Nucleolar dominance is an epigenetic phenomenon that occurs in interspecific hybrids and involves the expression of 45S rRNA genes inherited from one progenitor due to the silencing of the other progenitor's rRNA genes. In this paper, changes in the genetics and expression of 45S rRNA genes in F1 and F2 hybrid progeny of blunt snout bream (BSB, Megalobrama amblycephala) × topmouth culter (TC, Culter alburnus) are investigated. RESULTS: The 45S rDNA loci were analyzed by cloning, RT-PCR and sequencing methods...
December 5, 2016: BMC Genetics
https://www.readbyqxmd.com/read/27905875/a-nonsense-mutation-in-the-col7a1-gene-causes-epidermolysis-bullosa-in-vorderwald-cattle
#15
Hubert Pausch, Simon Ammermüller, Christine Wurmser, Henning Hamann, Jens Tetens, Cord Drögemüller, Ruedi Fries
BACKGROUND: The widespread use of individual sires for artificial insemination promotes the propagation of recessive conditions. Inadvertent matings between unnoticed carriers of deleterious alleles may result in the manifestation of fatal phenotypes in their progeny. Breeding consultants and farmers reported on Vorderwald calves with a congenital skin disease. The clinical findings in affected calves were compatible with epidermolysis bullosa. RESULTS: Pedigree analysis indicated autosomal recessive inheritance of epidermolysis bullosa in Vorderwald cattle...
December 1, 2016: BMC Genetics
https://www.readbyqxmd.com/read/27903236/erratum-to-adrenal-cortex-expression-quantitative-trait-loci-in-a-german-holstein%C3%A2-%C3%A3-%C3%A2-charolais-cross
#16
Bodo Brand, Markus O Scheinhardt, Juliane Friedrich, Daisy Zimmer, Norbert Reinsch, Siriluck Ponsuksili, Manfred Schwerin, Andreas Ziegler
No abstract text is available yet for this article.
November 30, 2016: BMC Genetics
https://www.readbyqxmd.com/read/27884112/erratum-to-genetic-analysis-of-intestinal-polyp-development-in-collaborative-cross-mice-carrying-the-apc-min-mutation
#17
Alexandra Dorman, Daria Baer, Ian Tomlinson, Richard Mott, Fuad A Iraqi
No abstract text is available yet for this article.
November 24, 2016: BMC Genetics
https://www.readbyqxmd.com/read/27881077/sex-difference-in-egfr-pathways-in-mouse-kidney-potential-impact-on-the-immune-system
#18
Fengxia Liu, Yan Jiao, Yun Jiao, Franklin Garcia-Godoy, Weikuan Gu, Qingyi Liu
BACKGROUND: Epidermal growth factor receptor (Egfr) has been the target of several drugs for cancers. The potential gender differences in genes in the Egfr axis have been suggested in humans and in animal models. Female and male mice from the same recombinant inbred (RI) strain have the same genomic components except the sex difference. A population of different RI mouse strains allows to conduct precise analysis of molecular pathways and regulation of Egfr between female and male mice...
November 24, 2016: BMC Genetics
https://www.readbyqxmd.com/read/27855657/genetic-dissection-of-the-fatty-liver-qtl-fl1sa-by-using-congenic-mice-and-identification-of-candidate-genes-in-the-liver-and-epididymal-fat
#19
Miyako Suzuki, Misato Kobayashi, Tamio Ohno, Shinsaku Kanamori, Soushi Tateishi, Atsushi Murai, Fumihiko Horio
BACKGROUND: Nonalcoholic fatty liver disease (NAFLD) is a multifactorial disease caused by interactions between environmental and genetic factors. The SMXA-5 mouse is a high-fat diet-induced fatty liver model established from SM/J and A/J strains. We have previously identified Fl1sa, a quantitative trait locus (QTL) for fatty liver on chromosome 12 (centromere-53.06 Mb) of SMXA-5 mice. However, the chromosomal region containing Fl1sa was too broad. The aim of this study was to narrow the Fl1sa region by genetic dissection using novel congenic mice and to identify candidate genes within the narrowed Fl1sa region...
November 17, 2016: BMC Genetics
https://www.readbyqxmd.com/read/27846816/assessing-genotype-phenotype-associations-in-three-dorsal-colour-morphs-in-the-meadow-spittlebug-philaenus-spumarius-l-hemiptera-aphrophoridae-using-genomic-and-transcriptomic-resources
#20
Ana S B Rodrigues, Sara E Silva, Francisco Pina-Martins, João Loureiro, Mariana Castro, Karim Gharbi, Kevin P Johnson, Christopher H Dietrich, Paulo A V Borges, José A Quartau, Chris D Jiggins, Octávio S Paulo, Sofia G Seabra
BACKGROUND: Colour polymorphisms are common among animal species. When combined with genetic and ecological data, these polymorphisms can be excellent systems in which to understand adaptation and the molecular changes underlying phenotypic evolution. The meadow spittlebug, Philaenus spumarius (L.) (Hemiptera, Aphrophoridae), a widespread insect species in the Holarctic region, exhibits a striking dorsal colour/pattern balanced polymorphism. Although experimental crosses have revealed the Mendelian inheritance of this trait, its genetic basis remains unknown...
November 15, 2016: BMC Genetics
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