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https://www.readbyqxmd.com/read/28106113/genetic-risk-variants-for-metabolic-traits-in-arab-populations
#1
Prashantha Hebbar, Naser Elkum, Fadi Alkayal, Sumi Elsa John, Thangavel Alphonse Thanaraj, Osama Alsmadi
Despite a high prevalence of metabolic trait related diseases in Arabian Peninsula, there is a lack of convincingly identified genetic determinants for metabolic traits in this population. Arab populations are underrepresented in global genome-wide association studies. We genotyped 1965 unrelated Arab individuals from Kuwait using Cardio-MetaboChip, and tested SNP associations with 13 metabolic traits. Models based on recessive mode of inheritance identified Chr15:40531386-rs12440118/ZNF106/W->R as a risk variant associated with glycated-hemoglobin at close to 'genome-wide significant' p-value and five other risk variants 'nominally' associated (p-value ≤ 5...
January 20, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28106071/development-of-an-efficient-screening-system-to-identify-novel-bone-metabolism-related-genes-using-the-exchangeable-gene-trap-mutagenesis-mouse-models
#2
Syuji Kurogi, Tomohisa Sekimoto, Taro Funamoto, Tomomi Ota, Shihoko Nakamura, Takuya Nagai, Mai Nakahara, Kumiko Yoshinobu, Kimi Araki, Masatake Araki, Etsuo Chosa
Despite numerous genetic studies on bone metabolism, understanding of the specific mechanisms is lacking. We developed an efficient screening system to identify novel genes involved in bone metabolism using mutant mouse strains registered with the Exchangeable Gene Trap Clones (EGTC) database. From 1278 trap clones in the EGTC database, 52 candidate lines were selected in the first screening, determined based on "EST profile", "X-gal", "Related article", and "Novel gene". For the second screening, bone morphometric analysis, biomechanical strength analysis, bone X-gal staining, etc...
January 20, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28105957/identification-of-nuclear-genes-controlling-chlorophyll-synthesis-in%C3%A2-barley-by-rna-seq
#3
Nickolay A Shmakov, Gennadiy V Vasiliev, Natalya V Shatskaya, Alexey V Doroshkov, Elena I Gordeeva, Dmitry A Afonnikov, Elena K Khlestkina
BACKGROUND: Albinism in plants is characterized by lack of chlorophyll and results in photosynthesis impairment, abnormal plant development and premature death. These abnormalities are frequently encountered in interspecific crosses and tissue culture experiments. Analysis of albino mutant phenotypes with full or partial chlorophyll deficiency can shed light on genetic determinants and molecular mechanisms of albinism. Here we report analysis of RNA-seq transcription profiling of barley (Hordeum vulgare L...
November 16, 2016: BMC Plant Biology
https://www.readbyqxmd.com/read/28105924/molecular-determinants-of-the-adrenal-gland-functioning-related-to-stress-sensitive-hypertension-in-isiah-rats
#4
Larisa A Fedoseeva, Leonid O Klimov, Nikita I Ershov, Yury V Alexandrovich, Vadim M Efimov, Arcady L Markel, Olga E Redina
BACKGROUND: The adrenals are known as an important link in pathogenesis of arterial hypertensive disease. The study was directed to the adrenal transcriptome analysis in ISIAH rats with stress-sensitive arterial hypertension and predominant involvement in pathogenesis of the hypothalamic-pituitary-adrenal and sympathoadrenal systems. RESULTS: The RNA-Seq approach was used to perform the comparative adrenal transcriptome profiling in hypertensive ISIAH and normotensive WAG rats...
December 28, 2016: BMC Genomics
https://www.readbyqxmd.com/read/28104276/optogenetic-toolkit-for-precise-control-of-calcium-signaling
#5
REVIEW
Guolin Ma, Shufan Wen, Lian He, Yun Huang, Youjun Wang, Yubin Zhou
Calcium acts as a second messenger to regulate a myriad of cell functions, ranging from short-term muscle contraction and cell motility to long-term changes in gene expression and metabolism. To study the impact of Ca(2+)-modulated 'ON' and 'OFF' reactions in mammalian cells, pharmacological tools and 'caged' compounds are commonly used under various experimental conditions. The use of these reagents for precise control of Ca(2+) signals, nonetheless, is impeded by lack of reversibility and specificity. The recently developed optogenetic tools, particularly those built upon engineered Ca(2+) release-activated Ca(2+) (CRAC) channels, provide exciting opportunities to remotely and non-invasively modulate Ca(2+) signaling due to their superior spatiotemporal resolution and rapid reversibility...
January 16, 2017: Cell Calcium
https://www.readbyqxmd.com/read/28103814/the-respiratory-microbiome-in-bronchial-mucosa-and-secretions-from-severe-ige-mediated-asthma-patients
#6
Laura Millares, Guadalupe Bermudo, Vicente Pérez-Brocal, Christian Domingo, Marian Garcia-Nuñez, Xavier Pomares, Andrés Moya, Eduard Monsó
BACKGROUND: The bronchial microbiome in chronic lung diseases presents an abnormal pattern, but its microbial composition and regional differences in severe asthma have not been sufficiently addressed. The aim of the study was to describe the bacterial community in bronchial mucosa and secretions of patients with severe chronic asthma chronically treated with corticosteroids in addition to usual care according to Global Initiative for Asthma. Bacterial community composition was obtained by 16S rRNA gene amplification and sequencing, and functional capabilities through PICRUSt...
January 19, 2017: BMC Microbiology
https://www.readbyqxmd.com/read/28102888/genetic-polymorphisms-in-estrogen-metabolic-pathway-associated-with-risks-of-alzheimer-s-disease-evidence-from-a-southern-chinese-population
#7
Lu Hua Chen, Yan Hui Fan, Patrick Yu Ping Kao, Deborah Tip Yin Ho, Joyce Cheuk Tung Ha, Leung Wing Chu, You-Qiang Song
OBJECTIVES: To investigate whether genetic variations on the estrogen metabolic pathway would be associated with risk of Alzheimer's disease (AD). DESIGN: Cross-sectional study. SETTING: Individuals were recruited at the Memory Clinic, Queen Mary Hospital, Hong Kong. PARTICIPANTS: Chinese individuals with (n = 426) and without (n = 350) AD. MEASUREMENTS: All subjects underwent a standardized cognitive assessment and genotyping of four candidate genes on the estrogen metabolic pathway (estrogen receptor α gene (ESR1), estrogen receptor β gene (ESR2), cytochrome P450 19A1 gene (CYP19A1), cytochrome P450 11A1 gene (CYP11A1))...
January 19, 2017: Journal of the American Geriatrics Society
https://www.readbyqxmd.com/read/28102463/marked-differences-of-haplotype-tagging-snp-distribution-linkage-and-haplotype-profile-of-apoa5-gene-in-roma-population-samples
#8
Katalin Sumegi, Balazs Duga, Bela I Melegh, Zsolt Banfai, Erzsebet Kovesdi, Anita Maasz, Bela Melegh
Roma people are underprivileged, neglected population worldwide, with severe healthcare problems. They have significantly increased prevalence of cardiovascular morbidity, presumably related to their poor social status, alcohol consumption and smoking habits. Assuming that genetic background also plays a role in their susceptibility for cardiovascular diseases, we hypothesized that APOA5 gene polymorphisms, an important role-player in lipid metabolism and in the development of metabolic syndrome and cardio/cerebrovascular events, may also be involved...
January 19, 2017: Pathology Oncology Research: POR
https://www.readbyqxmd.com/read/28101936/quantitative-itraq-based-proteomic-analysis-of-rice-grains-to-assess-high-night-temperature-stress
#9
Hong-Yu Zhang, Gang Lei, Hui-Wen Zhou, Chao He, Jiang-Lin Liao, Ying-Jin Huang
Rice yield and quality are adversely affected by increasing global surface temperature, and are strongly attributed to high night temperature (HNT) than high daytime temperature. However, the molecular mechanism underlying the heat-tolerant characteristics of rice remains unclear. In the present study, we compared the proteomes of heat-tolerant and -sensitive lines of rice at early milky stage using an iTRAQ method. We have identified 38 differentially expressed proteins between the two lines, of which 32 proteins have been functionally annotated in NCBI and/or the UniProt database...
January 19, 2017: Proteomics
https://www.readbyqxmd.com/read/28100847/genetic-background-of-aberrant-thermogenin-expression-ucp1-in-obesity-leading-to-metabolic-syndrome
#10
Małgorzata Stosio, Agata Witkowicz, Anna Kowalska, Lidia Karabon
Cardiovascular and metabolic disturbances individually and interdependently lead to chronic pathological conditions observed in cardio-metabolic diseases (CMDs). In Europe, the morbidity and mortality caused by cardiovascular disease are the highest among all diseases. Therefore, it seems important to search for new and alternative therapies for obesity, which is the main cause of type 2 diabetes (T2D) and cardiovascular disease (CD). Great attention has been paid to the role of brown adipose tissue in fat burning and the possibility of transformation of the white adipose tissue to cells with brown adipose tissue function as a potential form of treatment of obesity...
December 31, 2016: Postȩpy Higieny i Medycyny Doświadczalnej
https://www.readbyqxmd.com/read/28100843/pathophysiology-and-molecular-basis-of-selected-metabolic-abnormalities-in-huntington-s-disease
#11
Jolanta Krzysztoń-Russjan
Huntington's disease (HD) is an incurable, devastating neurodegenerative disease with a known genetic background and autosomally dominant inheritance pattern. HTT gene mutation (mHTT) is associated with polymorphic fragment elongation above 35 repeats of the CAG triplet. The mHTT product is an altered protein with a poly-Q elongated fragment, with the highest expression determined in the central nervous system (CNS) and with differentiated expression outside the CNS. A drastic loss of striatal and deeper layers of the cerebral cortex neurons was determined in the CNS, but muscle and body weight mass loss with dysfunction of many organs was also observed...
December 30, 2016: Postȩpy Higieny i Medycyny Doświadczalnej
https://www.readbyqxmd.com/read/28100790/genome-wide-analysis-in-brazilians-reveals-highly-differentiated-native-american-genome-regions
#12
Josyf C Mychaleckyj, Alexandre Havt, Uma Nayak, Relana Pinkerton, Emily Farber, Patrick Concannon, Aldo A Lima, Richard L Guerrant
Despite its population, geographic size, and emerging economic importance, disproportionately little genome-scale research exists into genetic factors that predispose Brazilians to disease, or the population genetics of risk. After identification of suitable proxy populations and careful analysis of tri-continental admixture in 1,538 North-Eastern Brazilians to estimate individual ancestry and ancestral allele frequencies, we computed 400,000 genome-wide locus-specific branch length (LSBL) Fst statistics of Brazilian Amerindian ancestry compared to European and African; and a similar set of differentiation statistics for their Amerindian component compared to the closest Asian 1000 Genomes population (surprisingly, Bengalis in Bangladesh)...
January 18, 2017: Molecular Biology and Evolution
https://www.readbyqxmd.com/read/28100326/-feeding-difficulty-and-developmental-delay-for-8-months-and-nystagmus-for-4-months-in-an-infant
#13
Jie Zhu, Fei Yu
Aromatic L-amino acid decarboxylase (AADC) deficiency is a rare autosomal recessive hereditary disease and is a congenital metabolic disorder of neurotransmitter biosynthesis. It is mainly manifested as hypotonia, oculogyric crisis, autonomic dysfunction, and developmental delay. This article reports a boy manifested as delayed motor development, hypotonia, and oculogyric crisis. Gene screening for metabolic disorders revealed new compound heterozygous mutations, c.1063dupA (p.I355fs) and c.250A>C (p.S84R), in the exon of DDC gene...
January 2017: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/28100213/transcriptomic-response-of-wolf-spider-pardosa-pseudoannulata-to-transgenic-rice-expressing-bacillus-thuringiensis-cry1ab-protein
#14
Juan Wang, Yuande Peng, Kaifu Xiao, Baoyang Wei, Jilin Hu, Zhi Wang, Qisheng Song, Xuguo Zhou
BACKGROUND: Bacillum thuringiensis (Bt) toxin produced in Cry1-expressing genetically modified rice (Bt rice) is highly effective to control lepidopteran pests, which reduces the needs for synthetic insecticides. Non-target organisms can be exposed to Bt toxins through direct feeding or trophic interactions in the field. The wolf spider Pardosa pseudoannulata, one of the dominant predators in South China, plays a crucial role in the rice agroecosystem. In this study, we investigated transcriptome responses of the 5th instar spiders fed on preys maintained on Bt- and non-Bt rice...
January 18, 2017: BMC Biotechnology
https://www.readbyqxmd.com/read/28100173/whole-genome-wide-transcript-profiling-to-identify-differentially-expressed-genes-associated-with-seed-field-emergence-in-two-soybean-low-phytate-mutants
#15
Fengjie Yuan, Xiaomin Yu, Dekun Dong, Qinghua Yang, Xujun Fu, Shenlong Zhu, Danhua Zhu
BACKGROUND: Seed germination is important to soybean (Glycine max) growth and development, ultimately affecting soybean yield. A lower seed field emergence has been the main hindrance for breeding soybeans low in phytate. Although this reduction could be overcome by additional breeding and selection, the mechanisms of seed germination in different low phytate mutants remain unknown. In this study, we performed a comparative transcript analysis of two low phytate soybean mutants (TW-1 and TW-1-M), which have the same mutation, a 2 bp deletion in GmMIPS1, but show a significant difference in seed field emergence, TW-1-M was higher than that of TW-1 ...
January 18, 2017: BMC Plant Biology
https://www.readbyqxmd.com/read/28100023/frontotemporal-lobar-degeneration-pathogenesis-pathology-and-pathways-to-phenotype
#16
REVIEW
David Ma Mann, Julie S Snowden
Frontotemporal Lobar Degeneration (FTLD) is a clinically, pathologically and genetically heterogeneous group of disorders that affect principally the frontal and temporal lobes of the brain. There are three major associated clinical syndromes, behavioural variant frontotemporal dementia (bvFTD), semantic dementia (SD) and progressive non-fluent aphasia (PNFA); three principal histologies, involving tau, TDP-43 and FUS proteins; and mutations in three major genes, MAPT, GRN and C9orf72, along with several other less common gene mutations...
January 18, 2017: Brain Pathology
https://www.readbyqxmd.com/read/28099784/investigating-the-extent-of-parallelism-in-morphological-and-genomic-divergence-among-lake-trout-ecotypes-in-lake-superior
#17
Alysse Perreault-Payette, Andrew M Muir, Frederick Goetz, Charles Perrier, Eric Normandeau, Pascal Sirois, Louis Bernatchez
Understanding the emergence of species through the process of ecological speciation is a central question in evolutionary biology which also has implications for conservation and management. Lake Trout (Salvelinus namaycush) is renowned for the occurrence of different ecotypes linked to resource and habitat use throughout North America. We aimed to unravel the fine genetic structure of the four Lake Trout ecotypes in Lake Superior. A total of 486 individuals from four sites were genotyped at 6822 filtered SNPs using RADseq technology...
January 18, 2017: Molecular Ecology
https://www.readbyqxmd.com/read/28099780/the-genetic-architecture-of-defense-as-resistance-to-and-tolerance-of-bacterial-infection-in-drosophila-melanogaster
#18
Virginia M Howick, Brian P Lazzaro
Defense against pathogenic infection can take two forms: resistance and tolerance. Resistance is the ability of the host to limit a pathogen burden, whereas tolerance is the ability to limit the negative consequences of infection at a given level of infection intensity. Evolutionarily, a tolerance strategy that is independent of resistance could allow the host to avoid mounting a costly immune response and, theoretically, to avoid a coevolutionary arms race between pathogen virulence and host resistance. Biomedically, understanding the mechanisms of tolerance and how they relate to resistance could potentially yield treatment strategies that focus on health improvement instead of pathogen elimination...
January 18, 2017: Molecular Ecology
https://www.readbyqxmd.com/read/28099407/effects-of-functional-cyp2c8-cyp2c9-cyp3a5-and-abcb1-genetic-variants-on-the-pharmacokinetics-of-insulin-sensitizer-pioglitazone-in-chinese-han-individuals
#19
Sheng-Ju Yin, Hui-Min Qi, Xin Wang, Pu Zhang, Yuan Lu, Min-Ji Wei, Pu Li, Guang-Zhao Qi, Ya-Qing Lou, Chuang Lu, Guo-Liang Zhang
BACKGROUND AND OBJECTIVES: Pioglitazone is a thiazolidinedione antihyperglycemic drug with insulin-sensitizing properties. We investigated whether the variant genotypes of cytochrome P450 2C8 (CYP2C8), CYP2C9, CYP3A5 and transporter ABCB1 influence the pharmacokinetic phenotype of the substrate pioglitazone in Chinese individuals. PARTICIPANTS AND METHODS: Single-nucleotide polymorphisms were determined by the PCR-restriction fragment length polymorphism method in 244 (CYP2C8 and CYP2C9) healthy Chinese Han individuals...
January 17, 2017: Pharmacogenetics and Genomics
https://www.readbyqxmd.com/read/28099079/lymphangioleiomyomatosis-a-monogenic-model-of-malignancy
#20
Vera P Krymskaya, Francis X McCormack
Lymphangioleiomyomatosis (LAM) is a rare, low-grade, metastasizing neoplasm that arises from an unknown source, spreads via the lymphatics, and targets the lungs. All pulmonary structures become infiltrated with benign-appearing spindle and epithelioid cells (LAM cells) that express smooth-muscle and melanocyte-lineage markers, harbor mTOR-activating mutations in tuberous sclerosis complex (TSC) genes, and recruit abundant stromal cells. Elaboration of lymphangiogenic growth factors and matrix remodeling enzymes by LAM cells enables their access to lymphatic channels and likely drives the cystic lung remodeling that often culminates in respiratory failure...
January 14, 2017: Annual Review of Medicine
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