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https://www.readbyqxmd.com/read/29668046/black-cohosh-extracts-and-powders-induce-micronuclei-a-biomarker-of-genetic-damage-in-human-cells
#1
Stephanie L Smith-Roe, Carol D Swartz, Kim G Shepard, Steven M Bryce, Stephen D Dertinger, Suramya Waidyanatha, Grace E Kissling, Scott S Auerbach, Kristine L Witt
Black cohosh extract (BCE) is a widely used dietary supplement marketed to women to alleviate symptoms of gynecological ailments, yet its toxicity has not been well characterized. The National Toxicology Program (NTP) previously reported significant increases in micronucleated erythrocytes in peripheral blood of female Wistar Han rats and B6C3F1/N mice administered 15-1,000 mg BCE/kg/day by gavage for 90 days. These animals also developed a dose-dependent nonregenerative macrocytic anemia characterized by clinical changes consistent with megaloblastic anemia...
April 18, 2018: Environmental and Molecular Mutagenesis
https://www.readbyqxmd.com/read/29668008/the-secular-trend-and-network-effects-on-height-of-male-japanese-students-from-1955-to-2015
#2
Dominik Bents, Detlef Groth, Takashi Satake
Introduction : Body height is influenced by biological factors such as genetics, nutrition and health, but also by the social network, and environmental and economical factors. During centuries, the Japanese society has developed on islands. This setting provides ideal natural conditions for studying the influence of social networks on human height. Material and methods : We investigated body height of male Japanese students aged 17.5 years obtained in 47 prefectures, from the Japanese school health survey of the years 1955, 1975, 1995, and 2015...
April 18, 2018: Anthropologischer Anzeiger; Bericht über die Biologisch-anthropologische Literatur
https://www.readbyqxmd.com/read/29667863/leo-kanner-and-autism-a-75-year-perspective
#3
James Harris
In 1943, Leo Kanner published the first systematic description of early infantile autism. He concluded that this was a neurodevelopmental disorder and that 'these children have come into the world with an innate inability to form the usual, biologically provided contact with people'. Moreover, his astute descriptions of parental behavior in his first publications were prescient and underlie later recognition of the importance of genetics. Our understanding has grown over the ensuing years with revisions in diagnostic classification, recognition of the broader autism phenotype in families, appreciation of the importance of developmental models, advances in genetic methodology, better understanding of the relationship to intellectual deficits, recognition of syndromic autism in neurogenetic sydromes, advances in neuroimaging, and advances in animal models, both mutant mouse models and transgenic non human primate models...
April 18, 2018: International Review of Psychiatry
https://www.readbyqxmd.com/read/29667742/genetic-association-and-expression-analyses-of-the-phosphatidylinositol-4-phosphate-5-kinase-pip5k1c-gene-in-alcohol-use-disorder-relevance-for-pain-signaling-and-alcohol-use
#4
Ji Soo Lee, Jill L Sorcher, Allison D Rosen, Ruslan Damadzic, Hui Sun, Melanie Schwandt, Markus Heilig, John Kelly, Kelsey L Mauro, Audrey Luo, Daniel Rosoff, Christine Muench, Jeesun Jung, Zachary A Kaminsky, Falk W Lohoff
BACKGROUND: The gene encoding Phosphatidylinositol-4-Phosphate 5-Kinase (PIP5K1C) has been recently implicated in pain regulation. Interestingly, a recent cross-tissue and cross-phenotypic epigenetic analysis identified the same gene in alcohol use disorder (AUD). Given the high comorbidity between AUD and chronic pain, we hypothesized that genetic variation in PIP5K1C might contribute to susceptibility to AUD. METHODS: We conducted a case-control association study of genetic variants in PIP5K1C...
April 18, 2018: Alcoholism, Clinical and Experimental Research
https://www.readbyqxmd.com/read/29667481/effects-of-ionising-radiation-on-telomere-length-and-telomerase-activity-in-cultured-human-lens-epithelium-cells
#5
Savneet Kaur Bains, Kim Chapman, Scott Bright, Anish Senan, Munira Kadhim, Predrag Slijepcevic
PURPOSE: To investigate the effects of ionising radiation on telomere length and telomerase activity in Human Lens Epithelial cells. There are studies suggesting evidence of telomere length in association with opacity of the lens, however, these studies have been conducted on Canine Lens cells. Our study was designed to understand further the effects of different doses of ionising radiation on telomere length and telomerase activity in cultured Human Lens Epithelium cells from three Donors...
April 18, 2018: International Journal of Radiation Biology
https://www.readbyqxmd.com/read/29667327/novel-west-syndrome-candidate-genes-in-a-chinese-cohort
#6
Jing Peng, Ying Wang, Fang He, Chen Chen, Li-Wen Wu, Li-Fen Yang, Yu-Ping Ma, Wen Zhang, Zi-Qing Shi, Chao Chen, Kun Xia, Hui Guo, Fei Yin, Nan Pang
AIMS: West syndrome (WS) is a classic form of early infantile epileptic encephalopathy (EIEE) characterized by tonic spasms with clustering, arrest of psychomotor development, and hypsarrhythmia on electroencephalography. Genetic defects play a critical role in the pathology of WS, and 54 EIEE genes have been identified till date. This study was designed to uncover new candidate genes for West syndrome. METHODS: In this study, we recruited 56 Chinese families with WS of unknown etiology...
April 17, 2018: CNS Neuroscience & Therapeutics
https://www.readbyqxmd.com/read/29667321/the-ethanol-extraction-of-prepared-psoralea-corylifolia-induces-apoptosis-and-autophagy-and-alteres-genes-expression-assayed-by-cdna-microarray-in-human-prostate-cancer-pc-3-cells
#7
Chia-Hsin Lin, Shinji Funayama, Shu-Fen Peng, Chao-Lin Kuo, Jing-Gung Chung
Prostate cancer is the most common male reproductive system cancer. The prevalence of prostate cancer in Europe and the United States is higher than that in the Asian region. However, the treatment of prostate cancer remains unsatisfactory. Psoralea corylifolia has been used to cure this disease as Chinese medicine in the Asian region. In this study, we analyzed the components of ethanol extraction of unprepared and prepared P. corylifolia by HPLC. Psoralen and isopsoralen content from the prepared P. corylifolia is twofold higher than that from unprepared, so we use the prepared extraction in this study...
April 18, 2018: Environmental Toxicology
https://www.readbyqxmd.com/read/29667298/distinct-chromatin-structures-at-the-monoamine-oxidase-a-maoa-promoter-correlate-with-allele-specific-expression-in-sh-sy5y-cells
#8
M Manca, V Pessoa, P Myers, A Pickles, J Hill, H Sharp, C Murgatroyd, V J Bubb, J P Quinn
Monoamine oxidase-A (MAOA) metabolises monoamines and is implicated in the pathophysiology of psychiatric disorders. A polymorphic repetitive DNA domain, termed the uVNTR (upstream variable number tandem repeat), located at the promoter of the MAOA gene is a risk factor for many of these disorders. MAOA is on the X chromosome suggesting gender could play a role in regulation. We analysed MAOA regulation in the human female cell line, SH-SY5Y, which is polymorphic for the uVNTR. This heterozygosity allowed us to correlate allele specific gene expression with allele specific transcription factor binding and epigenetic marks for MAOA...
April 18, 2018: Genes, Brain, and Behavior
https://www.readbyqxmd.com/read/29666641/brief-overview-of-a-decade-of-genome-wide-association-studies-on-primary-hypertension
#9
REVIEW
Afifah Binti Azam, Elena Aisha Binti Azizan
Primary hypertension is widely believed to be a complex polygenic disorder with the manifestation influenced by the interactions of genomic and environmental factors making identification of susceptibility genes a major challenge. With major advancement in high-throughput genotyping technology, genome-wide association study (GWAS) has become a powerful tool for researchers studying genetically complex diseases. GWASs work through revealing links between DNA sequence variation and a disease or trait with biomedical importance...
2018: International Journal of Endocrinology
https://www.readbyqxmd.com/read/29666615/significance-of-streptococcus-gallolyticus-subsp-gallolyticus-association-with-colorectal-cancer
#10
REVIEW
Ewa Pasquereau-Kotula, Mariana Martins, Laetitia Aymeric, Shaynoor Dramsi
Streptococcus gallolyticus subsp. gallolyticus Sgg (formerly known as S. bovis type I) is the main causative agent of septicemia and infective endocarditis (IE) in elderly and immunocompromised persons. It belongs to the few opportunistic bacteria, which have been strongly associated to colorectal cancer (CRC). A literature survey covering a period of 40 years (1970-2010) revealed that 65% of patients diagnosed with an invasive Sgg infection had a concomitant colorectal neoplasia. Sgg is associated mainly with early adenomas and may thus constitute an early marker for CRC screening...
2018: Frontiers in Microbiology
https://www.readbyqxmd.com/read/29666451/exploring-the-extent-and-scope-of-epigenetic-inheritance
#11
REVIEW
Elizabeth J Radford
Environmental factors, particularly during early life, are important for the later metabolic health of the individual. In our obesogenic environment, it is of major socio-economic importance to investigate the mechanisms that contribute to the risk of metabolic ill health. Increasing evidence from a variety of model organisms suggests that non-genetically determined phenotypes, including metabolic effects such as glucose intolerance and obesity, can be passed between generations, which encourages us to revisit heredity...
April 17, 2018: Nature Reviews. Endocrinology
https://www.readbyqxmd.com/read/29666371/integration-of-human-adipocyte-chromosomal-interactions-with-adipose-gene-expression-prioritizes-obesity-related-genes-from-gwas
#12
David Z Pan, Kristina M Garske, Marcus Alvarez, Yash V Bhagat, James Boocock, Elina Nikkola, Zong Miao, Chelsea K Raulerson, Rita M Cantor, Mete Civelek, Craig A Glastonbury, Kerrin S Small, Michael Boehnke, Aldons J Lusis, Janet S Sinsheimer, Karen L Mohlke, Markku Laakso, Päivi Pajukanta, Arthur Ko
Increased adiposity is a hallmark of obesity and overweight, which affect 2.2 billion people world-wide. Understanding the genetic and molecular mechanisms that underlie obesity-related phenotypes can help to improve treatment options and drug development. Here we perform promoter Capture Hi-C in human adipocytes to investigate interactions between gene promoters and distal elements as a transcription-regulating mechanism contributing to these phenotypes. We find that promoter-interacting elements in human adipocytes are enriched for adipose-related transcription factor motifs, such as PPARG and CEBPB, and contribute to heritability of cis-regulated gene expression...
April 17, 2018: Nature Communications
https://www.readbyqxmd.com/read/29666355/therapeutic-avenues-for-hereditary-forms-of-retinal-blindness
#13
Chitra Kannabiran, Indumathi Mariappan
Hereditary retinal diseases, known as retinal degenerations or dystrophies, are a large group of inherited eye disorders resulting in irreversible visual loss and blindness. They develop due to mutations in one or more genes that lead to the death of the retinal photoreceptor cells. Till date, mutations in over 200 genes are known to be associated with all different forms of retinal disorders. The enormous genetic heterogeneity of this group of diseases has posedmany challenges in understanding the mechanisms of disease and in developing suitable therapies...
March 2018: Journal of Genetics
https://www.readbyqxmd.com/read/29666349/genetic-disease-in-india-and-the-west-compared-provisional-analysis-of-population-dynamics
#14
Nicholas Mitchison, Timothy Mitchison
The Indian Genetic Disease Database (IGDD) and Online Mendelian Inheritance in Man (OMIM) survey human populations that have different climate histories. Comparison of the two shows an outstanding difference in the relative frequency of recessive disease genes. Several of the diseases mediated at least in part by recessive gene mutations in India are not so mediated in the Western populations covered by OMIM, or are so mediated to a lesser extent. This we attribute to climate history, where population fall leading to inbreeding in the last ice age appears to have reduced the frequency of recessive disease genes in the Western world...
March 2018: Journal of Genetics
https://www.readbyqxmd.com/read/29666346/genetic-heterogeneity-in-van-der-woude-syndrome-identification-of-nol4-and-irf6-haplotype-from-the-noncoding-region-as-candidates-in-two-families
#15
Priyanka Kumari Kumari, Akhtar Ali, Subodh Kumar Singh, Amit Chaurasia, Rajiva Raman
Van der Woude syndrome (VWS) shows an autosomal dominant pattern of inheritance with two known candidate genes, IRF6 and GRHL3. In this study, by employing genome-wide linkage analyses on two VWS affected families, we report the cosegregation of an intronic rare variant in NOL4 in one family, and a haplotype consisting of three variants in the noncoding region of IRF6 (introns 1, 8 and 3'UTR) in the other family. Using mouse, as well as human embryos as a model, we demonstrate the expression of NOL4 in the lip and palate primordia during their development...
March 2018: Journal of Genetics
https://www.readbyqxmd.com/read/29666343/interleukin-gene-polymorphisms-and-susceptibility-to-hiv-1-infection-a-meta-analysis
#16
Chrissa G Tsiara, Georgios K Nikolopoulos, Niki L Dimou, Katerina G Pantavou, Pantelis G Bagos, Benedicta Mensah, Michael Talias, Georgia G Braliou, Dimitra Paraskeva, Stefanos Bonovas, Angelos Hatzakis
Some subjects are repeatedly exposed to human immunodeficiency virus (HIV), yet they remain uninfected. This suggests the existence of host-resistance mechanisms. The current study synthesizes the evidence regarding the association between interleukin (IL) gene polymorphisms and HIV susceptibility. Medline, Scopus and the Web of Science databases were systematically searched, and a meta-analysis of case-control studies was conducted. Univariate and bivariate methods were used. The literature search identified 42 eligible studies involving 15,727 subjects...
March 2018: Journal of Genetics
https://www.readbyqxmd.com/read/29666290/viral-diversity-of-house-mice-in-new-york-city
#17
Simon H Williams, Xiaoyu Che, Joel A Garcia, John D Klena, Bohyun Lee, Dorothy Muller, Werner Ulrich, Robert M Corrigan, Stuart Nichol, Komal Jain, W Ian Lipkin
The microbiome of wild Mus musculus (house mouse), a globally distributed invasive pest that resides in close contact with humans in urban centers, is largely unexplored. Here, we report analysis of the fecal virome of house mice in residential buildings in New York City, NY. Mice were collected at seven sites in Manhattan, Queens, Brooklyn, and the Bronx over a period of 1 year. Unbiased high-throughput sequencing of feces revealed 36 viruses from 18 families and 21 genera, including at least 6 novel viruses and 3 novel genera...
April 17, 2018: MBio
https://www.readbyqxmd.com/read/29666289/new-york-city-house-mice-mus-musculus-as-potential-reservoirs-for-pathogenic-bacteria-and-antimicrobial-resistance-determinants
#18
Simon H Williams, Xiaoyu Che, Ashley Paulick, Cheng Guo, Bohyun Lee, Dorothy Muller, Anne-Catrin Uhlemann, Franklin D Lowy, Robert M Corrigan, W Ian Lipkin
House mice ( Mus musculus ) thrive in large urban centers worldwide. Nonetheless, little is known about the role that they may play in contributing to environmental contamination with potentially pathogenic bacteria. Here, we describe the fecal microbiome of house mice with emphasis on detection of pathogenic bacteria and antimicrobial resistance genes by molecular methods. Four hundred sixteen mice were collected from predominantly residential buildings in seven sites across New York City over a period of 13 months...
April 17, 2018: MBio
https://www.readbyqxmd.com/read/29666269/worldwide-distribution-of-the-dcdc2-read1-regulatory-element-and-its-relationship-with-phoneme-variation-across-languages
#19
Mellissa M C DeMille, Kevin Tang, Chintan M Mehta, Christopher Geissler, Jeffrey G Malins, Natalie R Powers, Beatrice M Bowen, Andrew K Adams, Dongnhu T Truong, Jan C Frijters, Jeffrey R Gruen
DCDC2 is a gene strongly associated with components of the phonological processing system in animal models and in multiple independent studies of populations and languages. We propose that it may also influence population-level variation in language component usage. To test this hypothesis, we investigated the evolution and worldwide distribution of the READ1 regulatory element within DCDC2 , and compared its distribution with variation in different language properties. The mutational history of READ1 was estimated by examining primate and archaic hominin sequences...
April 16, 2018: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29666259/shared-epitope-aryl-hydrocarbon-receptor-crosstalk-underlies-the-mechanism-of-gene-environment-interaction-in-autoimmune-arthritis
#20
Jiaqi Fu, Sarah V Nogueira, Vincent van Drongelen, Patrick Coit, Song Ling, Edward F Rosloniec, Amr H Sawalha, Joseph Holoshitz
The susceptibility to autoimmune diseases is affected by genetic and environmental factors. In rheumatoid arthritis (RA), the shared epitope (SE), a five-amino acid sequence motif encoded by RA-associated HLA-DRB1 alleles, is the single most significant genetic risk factor. The risk conferred by the SE is increased in a multiplicative way by exposure to various environmental pollutants, such as cigarette smoke. The mechanism of this synergistic interaction is unknown. It is worth noting that the SE has recently been found to act as a signal transduction ligand that facilitates differentiation of Th17 cells and osteoclasts in vitro and in vivo...
April 16, 2018: Proceedings of the National Academy of Sciences of the United States of America
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