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https://www.readbyqxmd.com/read/28942964/fine-mapping-and-functional-analysis-reveal-a-role-of-slc22a1-in-acylcarnitine-transport
#1
Hye In Kim, Johannes Raffler, Wenyun Lu, Jung-Jin Lee, Deepti Abbey, Danish Saleheen, Joshua D Rabinowitz, Michael J Bennett, Nicholas J Hand, Christopher Brown, Daniel J Rader
Genome-wide association studies have identified a signal at the SLC22A1 locus for serum acylcarnitines, intermediate metabolites of mitochondrial oxidation whose plasma levels associate with metabolic diseases. Here, we refined the association signal, performed conditional analyses, and examined the linkage structure to find coding variants of SLC22A1 that mediate independent association signals at the locus. We also employed allele-specific expression analysis to find potential regulatory variants of SLC22A1 and demonstrated the effect of one variant on the splicing of SLC22A1...
September 14, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28942522/hiv-1-genetic-diversity-geographical-linkages-and-antiretroviral-drug-resistance-among-individuals-from-pakistan
#2
Saeed Khan, Maria Zahid, Muhammad Asif Qureshi, Muhammad Nouman Mughal, Ikram Din Ujjan
Worldwide antiretroviral therapy (ART) has reduced the mortality and morbidity rates in individuals with HIV infection. However, the increasing occurrence of drug resistance is limiting treatment options. In recent years, Pakistan has witnessed a concentrated epidemic of HIV. It is very important to identify geographical linkages and mutations that generate selective pressure and drive resistance of HIV in our population. The aim of this work was to identify genetic diversity and drug resistance patterns of HIV in Pakistan, using available sequences and bioinformatics tools, which may help in selecting effective combination of available drugs...
September 23, 2017: Archives of Virology
https://www.readbyqxmd.com/read/28941699/synthesis-of-whey-peptide-iron-complexes-influence-of-using-different-iron-precursor-compounds
#3
Maria Elisa Caetano-Silva, Renata Carolina Alves, Guilherme Nunes Lucena, Regina Célia Galvão Frem, Maria Teresa Bertoldo-Pacheco, Juliana Azevedo Lima-Pallone, Flavia Maria Netto
Iron-binding peptides are an alternative for increasing the bioavailability of iron and to decreasing its pro-oxidant effect. This study aimed to synthesize and characterize peptide-iron complexes using FeCl2 or FeSO4 as the iron precursor compounds. Whey protein isolate (WPI), WPI hydrolyzed with pancreatin, and its fractions obtained via ultrafiltration (cut-off 5kDa) were used as ligands. The fluorescence intensity of the ligands significantly decreased as the iron concentration increased as a result of metal coordination with the iron-binding sites, which may have led to changes in the microenvironment of tryptophan...
November 2017: Food Research International
https://www.readbyqxmd.com/read/28941683/analysis-of-dehydration-kinetics-status-of-water-and-oil-distribution-of-microwave-assisted-vacuum-frying-potato-chips-combined-with-nmr-and-confocal-laser-scanning-microscopy
#4
Ya Su, Min Zhang, Zhongxiang Fang, Weiming Zhang
In this study, the dehydration kinetics, status of water and oil distribution of microwave-assisted vacuum frying (MVF) potato chips were analyzed combining with NMR and confocal laser scanning microscopy (CLSM). Results showed that the MVF markedly increased the moisture evaporation kinetics and effective moisture diffusivity compared to vacuum frying (VF). The higher microwave power level (1000W) used achieved higher moisture evaporation rate and higher effective moisture diffusivity, The Logarithmic model exhibited the best fit for the obtained data of MR versus frying time in the MVF...
November 2017: Food Research International
https://www.readbyqxmd.com/read/28941494/current-understanding-of-the-genetic-causes-of-keloid-formation
#5
REVIEW
Donald A Glass
Keloids are an exuberant response to cutaneous wound healing. Several lines of evidence suggest that keloid scarring is influenced by genetic factors. This review will discuss our current understanding of genetic influences on keloidal scarring via familial inheritance patterns; ethnic differences in prevalence; syndromes with keloid occurrence; linkage analysis, genome-wide association studies, and admixture mapping studies; transforming growth factor beta and p53 variant studies; and human leukocyte antigen polymorphisms...
October 2017: Journal of Investigative Dermatology. Symposium Proceedings
https://www.readbyqxmd.com/read/28940632/parental-age-and-risk-of-infant-leukaemia-a-pooled-analysis
#6
Erin L Marcotte, Todd E Druley, Kimberly J Johnson, Michaela Richardson, Julie von Behren, Beth A Mueller, Susan Carozza, Colleen McLaughlin, Eric J Chow, Peggy Reynolds, Logan G Spector
BACKGROUND: Infant leukaemia (IL) is extremely rare with fewer than 150 cases occurring each year in the United States. Little is known about its causes. However, recent evidence supports a role of de novo mutations in IL aetiology. Parental age has been associated with several adverse outcomes in offspring, including childhood cancers. Given the role of older parental age in de novo mutations in offspring, we carried out an analysis of parental age and IL. METHODS: We evaluated the relationship between parental age and IL in a case-control study using registry data from New York, Minnesota, California, Texas, and Washington...
September 22, 2017: Paediatric and Perinatal Epidemiology
https://www.readbyqxmd.com/read/28940460/smoking-plasma-cotinine-and-risk-of-atrial-fibrillation-the-hordaland-health-study
#7
H Zuo, O Nygård, S E Vollset, P M Ueland, A Ulvik, Ø Midttun, K Meyer, J Igland, G Sulo, G S Tell
BACKGROUND: Cigarette smoking has been identified as a major modifiable risk factor for coronary heart disease and mortality. However, findings on the relationship between smoking and atrial fibrillation (AF) have been inconsistent. Furthermore, findings from previous studies were based on self-reported smoking. OBJECTIVE: To examine the associations of smoking status and plasma cotinine levels, a marker of nicotine exposure, with risk of incident AF in the Hordaland Health Study...
September 20, 2017: Journal of Internal Medicine
https://www.readbyqxmd.com/read/28939446/next-generation-terminology-infrastructure-to-support-interprofessional-care-planning
#8
Sarah Collins, Stephanie Klinkenberg-Ramirez, Kira Tsivkin, Perry L Mar, Dina Iskhakova, Hari Nandigam, Lipika Samal, Roberto A Rocha
OBJECTIVE: Develop a prototype of an interprofessional terminology and information model infrastructure that can enable care planning applications to facilitate patient-centered care, learn care plan linkages and associations, provide decision support, and enable automated, prospective analytics. DESIGN: The study steps included a 3 step approach: 1) Process model and clinical scenario development, and 2) Requirements analysis, and 3) Development and validation of information and terminology models...
September 19, 2017: Journal of Biomedical Informatics
https://www.readbyqxmd.com/read/28939357/structural-analysis-of-dioclea-lasiocarpa-lectin-a-c6-cells-apoptosis-inducing-protein
#9
Kyria Santiago Nascimento, Mayara Queiroz Santiago, Vanir Reis Pinto-Junior, Vinicius Jose Silva Osterne, Francisco William Viana Martins, Ana Paula Machado Nascimento, Ingrid Alessandra Victoria Wolin, Isabella Aparecida Heinrich, Maria Gleiciane Queiroz Martins, Mayara Torquato Lima Silva, Claudia Figueiredo Lossio, Cíntia Renata Costa Rocha, Rodrigo Bainy Leal, Benildo Sousa Cavada
Lectins are multidomain proteins that specifically recognize various carbohydrates. The structural characterization of these molecules is crucial in understanding their function and activity in systems and organisms. Most cancer cells exhibit changes in glycosylation patterns, and lectins may be able to recognize these changes. In this work, Dioclea lasiocarpa seed lectin (DLL) was structurally characterized. The lectin presented a high degree of similarity with other lectins isolated from legumes, presenting a jelly roll motif and a metal-binding site stabilizing the carbohydrate-recognition domain...
September 19, 2017: International Journal of Biochemistry & Cell Biology
https://www.readbyqxmd.com/read/28938233/no-apparent-association-between-bipolar-disorder-and-cancer-in-a-large-epidemiological-study-of-outpatients-in-a-managed-care-population
#10
Natan R Kahan, Barbara Silverman, Irena Liphshitz, Dan-Andrei Waitman, Itzhak Ben-Zion, Alexander M Ponizovsky, Abraham Weizman, Alexander Grinshpoon
An association between bipolar disorder (BD) and cancer risk has been reported. The purpose of this study was to investigate this association through linkage analysis of a national HMO database and a national cancer registry. All members of the Leumit Health Services (LHS) HMO of Israel from 2000 to 2012 were included. Members with a recorded diagnosis of BD and a record of at least one written or dispensed prescription for pharmacotherapy for treatment of BD were classified as patients with BD. We linked the LHS population with the Israel National Cancer Registry database to capture all cases of cancer reported...
September 21, 2017: International Clinical Psychopharmacology
https://www.readbyqxmd.com/read/28936983/teaching-practice-and-experiences-of-verifying-the-three-laws-of-genetics-based-on-the-sslp-marker-analysis
#11
Xue-Ying Huang, Kai Fan, Yan-Fang Ye, Bin Wang, Wei-Ren Wu, Tao Lan
We explored the practical effect of the genetic analysis of simple sequence length polymorphism (SSLP) molecular markers in rice in the genetics lab course. Two parents and their F2 population were analyzed and detected with three SSLP molecular markers that located on two chromosomes of the rice genome. The markers' genotype data were used to verify the three laws of genetics, including segregation, independent assortment and linkage and crossing-over. Our practice has proved not only beneficial to deepen students' understandings about the three laws of genetics, but also conducive to cultivate students' interests in research and innovation and improve their skills and comprehensive analysis abilities...
September 20, 2017: Yi Chuan, Hereditas
https://www.readbyqxmd.com/read/28936718/identification-of-candidate-genes-for-generalized-tonic-clonic-seizures-in-noda-epileptic-rat
#12
Takashi Kuramoto, Birger Voigt, Satoshi Nakanishi, Kazuhiro Kitada, Tadashi Nakamura, Kaori Wakamatsu, Minako Yoshihara, Mikita Suyama, Risa Uemura, Miyuu Tanaka, Mitsuru Kuwamura, Saki Shimizu, Yukihiro Ohno, Masashi Sasa, Tadao Serikawa
The Noda epileptic rat (NER) exhibits generalized tonic-clonic seizures (GTCS). A genetic linkage analysis identified two GTCS-associated loci, Ner1 on Chr 1 and Ner3 on Chr 5. The wild-type Ner1 and Ner3 alleles suppressed GTCS when combined in double-locus congenic lines, but not when present in single-locus congenic lines. Global expression analysis revealed that cholecystokinin B receptor (Cckbr) and suppressor of tumorigenicity 5 (St5), which map within Ner1, and PHD finger protein 24 (Phf24), which maps within Ner3, were significantly downregulated in NER...
September 21, 2017: Behavior Genetics
https://www.readbyqxmd.com/read/28936219/a-high-density-genetic-map-derived-from-rad-sequencing-and-its-application-in-qtl-analysis-of-yield-related-traits-in-vigna-unguiculata
#13
Lei Pan, Nian Wang, Zhihua Wu, Rui Guo, Xiaolu Yu, Yu Zheng, Qiuju Xia, Songtao Gui, Chanyou Chen
Cowpea [Vigna unguiculata (L.) Walp.] is an annual legume of economic importance and widely grown in the semi-arid tropics. However, high-density genetic maps of cowpea are still lacking. Here, we identified 34,868 SNPs (single nucleotide polymorphisms) that were distributed in the cowpea genome based on the RAD sequencing (restriction-site associated DNA sequencing) technique using a population of 170 individuals (two cowpea parents and 168 F2:3 progenies). Of these, 17,996 reliable SNPs were allotted to 11 consensus linkage groups (LGs)...
2017: Frontiers in Plant Science
https://www.readbyqxmd.com/read/28935603/discovery-and-biochemical-characterization-of-a-mannose-phosphorylase-catalyzing-the-synthesis-of-novel-%C3%AE-1-3-mannosides
#14
Faisal Nureldin Awad, Pedro Laborda, Meng Wang, Ai Min Lu, Qian Li, Zhi Peng Cai, Li Liu, Josef Voglmeir
BACKGROUND: Mannoside phosphorylases are frequently found in bacteria and play an important role in carbohydrate processing. These enzymes catalyze the reversible conversion of β-1,2- or β-1,4-mannosides to mannose and mannose-1-phosphate in the presence of inorganic phosphate. METHODS: The biochemical parameters of this recombinantly expressed novel mannose phosphorylase were obtained. Furthermore purified reaction products were subjected to ESI- and MALDI-TOF mass spectrometry and detailed NMR analysis to verify this novel type of β-1,3-mannose linkage...
September 18, 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/28934671/the-hnf1a-mutant-ala180val-clinical-challenges-in-determining-causality-of-a-rare-hnf1a-variant-in-familial-diabetes
#15
J V Sagen, L Bjørkhaug, B I Haukanes, L Grevle, J Molnes, B G Nedrebø, O Søvik, P R Njølstad, S Johansson, A Molven
AIMS: Heterozygous mutations in hepatocyte nuclear factor-1A (HNF1A) cause maturity-onset diabetes of the young type 3 (MODY3). Our aim was to compare two families with suspected dominantly inherited diabetes and a new HNF1A variant of unknown clinical significance. METHODS: The HNF1A gene was sequenced in two independently recruited families from the Norwegian MODY Registry. Both familes were phenotyped clinically and biochemically. Microsatellite markers around and within the HNF1A locus were used for haplotyping...
September 1, 2017: Diabetes Research and Clinical Practice
https://www.readbyqxmd.com/read/28933650/investigating-multiple-sclerosis-genetic-susceptibility-on-the-founder-population-of-east-central-sardinia-via-association-and-linkage-analysis-of-immune-related-loci
#16
Teresa Fazia, Roberta Pastorino, Luisa Foco, Lide Han, Mark Abney, Ashley Beecham, Athena Hadjixenofontos, Hui Guo, Davide Gentilini, Charalampos Papachristou, Pier Paolo Bitti, Anna Ticca, Carlo Berzuini, Jacob L McCauley, Luisa Bernardinelli
BACKGROUND: A wealth of single-nucleotide polymorphisms (SNPs) responsible for multiple sclerosis (MS) susceptibility have been identified; however, they explain only a fraction of MS heritability. OBJECTIVES: We contributed to discovery of new MS susceptibility SNPs by studying a founder population with high MS prevalence. METHODS: We analyzed ImmunoChip data from 15 multiplex families and 94 unrelated controls from the Nuoro Province, Sardinia, Italy...
September 1, 2017: Multiple Sclerosis: Clinical and Laboratory Research
https://www.readbyqxmd.com/read/28933529/simultaneous-production-of-anabaenopetins-and-namalides-by-the-cyanobacterium-nostoc-sp-cena543
#17
Tania K Shishido, Jouni Jokela, David P Fewer, Matti Wahlsten, Marli F Fiore, Kaarina Sivonen
Anabaenopeptins are a diverse group of cyclic peptides, which contain an unusual ureido linkage. Namalides are shorter structural homologs of anabaenopeptins, which also contain an ureido linkage. The biosynthetic origins of namalides are unknown despite a strong resemblance to anabaenopeptins. Here we show the cyanobacterium Nostoc sp. CENA543 strain producing new (nostamide B-E (2, 4, 5 and 6)) and known variants of anabaenopeptins (schizopeptin 791 (1) and anabaenopeptin 807 (3)). Surprisingly, Nostoc sp...
September 21, 2017: ACS Chemical Biology
https://www.readbyqxmd.com/read/28932452/crystal-structure-of-a-1-1-2-2-tetra-chloro-ethane-solvated-hydrazinecarbo-thio-amide-compound
#18
Sayed Riyadh, David L Hughes, Musa A Said
The title compound, [(1-{4-[2-(2,4-di-hydroxy-phen-yl)diazen-1-yl]phen-yl}ethyl-idene)amino]-thio-urea, 1,1,2,2-tetra-chloro-ethane monosolvate, C15H15N5O2S·C2H2Cl4, was prepared from 4-(4-acetyl-phenyl-diazendi-yl)resorcinol and thio-semicarbazide and recrystallized from mixed solvents of tetra-chloro-ethane and n-hexane. (1)H NMR and X-ray diffraction data are in support of the thione tautomeric form. The X-ray analysis shows the mol-ecule crystallizes as a zwitterion, with proton transfer from the nominal phenol to the azide group; the N-N bond length is 1...
September 1, 2017: Acta Crystallographica. Section E, Crystallographic Communications
https://www.readbyqxmd.com/read/28932230/high-density-linkage-map-construction-and-qtl-detection-for-three-silique-related-traits-in-orychophragmus-violaceus-derived-brassica-napus-population
#19
Yi Yang, Yusen Shen, Shunda Li, Xianhong Ge, Zaiyun Li
Seeds per silique (SS), seed weight (SW), and silique length (SL) are important determinant traits of seed yield potential in rapeseed (Brassica napus L.), and are controlled by naturally occurring quantitative trait loci (QTLs). Mapping QTLs to narrow chromosomal regions provides an effective means of characterizing the genetic basis of these complex traits. Orychophragmus violaceus is a crucifer with long siliques, many SS, and heavy seeds. A novel B. napus introgression line with many SS was previously selected from multiple crosses (B...
2017: Frontiers in Plant Science
https://www.readbyqxmd.com/read/28931804/cross-ethnic-meta-analysis-identifies-association-of-the-gpx3-tnip1-locus-with-amyotrophic-lateral-sclerosis
#20
Beben Benyamin, Ji He, Qiongyi Zhao, Jacob Gratten, Fleur Garton, Paul J Leo, Zhijun Liu, Marie Mangelsdorf, Ammar Al-Chalabi, Lisa Anderson, Timothy J Butler, Lu Chen, Xiang-Ding Chen, Katie Cremin, Hong-Weng Deng, Matthew Devine, Janette Edson, Jennifer A Fifita, Sarah Furlong, Ying-Ying Han, Jessica Harris, Anjali K Henders, Rosalind L Jeffree, Zi-Bing Jin, Zhongshan Li, Ting Li, Mengmeng Li, Yong Lin, Xiaolu Liu, Mhairi Marshall, Emily P McCann, Bryan J Mowry, Shyuan T Ngo, Roger Pamphlett, Shu Ran, David C Reutens, Dominic B Rowe, Perminder Sachdev, Sonia Shah, Sharon Song, Li-Jun Tan, Lu Tang, Leonard H van den Berg, Wouter van Rheenen, Jan H Veldink, Robyn H Wallace, Lawrie Wheeler, Kelly L Williams, Jinyu Wu, Xin Wu, Jian Yang, Weihua Yue, Zong-Hong Zhang, Dai Zhang, Peter G Noakes, Ian P Blair, Robert D Henderson, Pamela A McCombe, Peter M Visscher, Huji Xu, Perry F Bartlett, Matthew A Brown, Naomi R Wray, Dongsheng Fan
Cross-ethnic genetic studies can leverage power from differences in disease epidemiology and population-specific genetic architecture. In particular, the differences in linkage disequilibrium and allele frequency patterns across ethnic groups may increase gene-mapping resolution. Here we use cross-ethnic genetic data in sporadic amyotrophic lateral sclerosis (ALS), an adult-onset, rapidly progressing neurodegenerative disease. We report analyses of novel genome-wide association study data of 1,234 ALS cases and 2,850 controls...
September 20, 2017: Nature Communications
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