keyword
MENU ▼
Read by QxMD icon Read
search

Human twin studies

keyword
https://www.readbyqxmd.com/read/28422179/heritability-maps-of-human-face-morphology-through-large-scale-automated-three-dimensional-phenotyping
#1
Dimosthenis Tsagkrasoulis, Pirro Hysi, Tim Spector, Giovanni Montana
The human face is a complex trait under strong genetic control, as evidenced by the striking visual similarity between twins. Nevertheless, heritability estimates of facial traits have often been surprisingly low or difficult to replicate. Furthermore, the construction of facial phenotypes that correspond to naturally perceived facial features remains largely a mystery. We present here a large-scale heritability study of face geometry that aims to address these issues. High-resolution, three-dimensional facial models have been acquired on a cohort of 952 twins recruited from the TwinsUK registry, and processed through a novel landmarking workflow, GESSA (Geodesic Ensemble Surface Sampling Algorithm)...
April 19, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28421666/genetic-interplay-between-human-longevity-and-metabolic-pathways-a-large-scale-eqtl-study
#2
Robert Häsler, Geetha Venkatesh, Qihua Tan, Friederike Flachsbart, Anupam Sinha, Philip Rosenstiel, Wolfgang Lieb, Stefan Schreiber, Kaare Christensen, Lene Christiansen, Almut Nebel
Human longevity is a complex phenotype influenced by genetic and environmental components. Unraveling the contribution of genetic vs. nongenetic factors to longevity is a challenging task. Here, we conducted a large-scale RNA-sequencing-based expression quantitative trait loci study (eQTL) with subsequent heritability analysis. The investigation was performed on blood samples from 244 individuals from Germany and Denmark, representing various age groups including long-lived subjects up to the age of 104 years...
April 19, 2017: Aging Cell
https://www.readbyqxmd.com/read/28410558/ultrasensitive-vertical-piezotronic-transistor-based-on-zno-twin-nanoplatelet
#3
Longfei Wang, Shuhai Liu, Xiaolong Feng, Qi Xu, Suo Bai, Laipan Zhu, Libo Chen, Yong Qin, Zhong Lin Wang
High sensitivity of pressure/strain sensor is the key to accurately evaluate external mechanical stimuli and could become more important in future generations of human-machine interfaces and artificial skin. Here we report the study of a two-terminal piezotronic transistor based on ZnO twin nanoplatelets (TNPT). Owing to the mirror symmetrical structure of ZnO twin nanplatelet, compressive pressure induced positive piezoelectric polarization charges created at both metal-semiconductor interfaces can simultaneously lower the both Schottky barrier heights and thus significantly modulate the carriers transport...
April 14, 2017: ACS Nano
https://www.readbyqxmd.com/read/28404494/association-between-preterm-birth-and-its-subtypes-and-maternal-sociodemographic-characteristics-during-the-post-transitional-phase-in-a-developing-country-with-a-very-high-human-development-index
#4
B M Araya, M Díaz, D Paredes, J Ortiz
OBJECTIVES: Chile is a post-transitional country evolving towards a stationary population pyramid, which may be associated with increasing preterm birth (PTB) rates. This study aimed to compare maternal sociodemographic characteristics between the start of the post-transition phase (1994) and an established stage (2013) and to evaluate associations between these characteristics and PTB. STUDY DESIGN: An observational analytic design was conducted using national birth records (n = 4,956,311)...
March 7, 2017: Public Health
https://www.readbyqxmd.com/read/28388429/aberrant-dna-methylation-in-human-ipscs-associates-with-myc-binding-motifs-in-a-clone-specific-manner-independent-of-genetics
#5
Athanasia D Panopoulos, Erin N Smith, Angelo D Arias, Peter J Shepard, Yuriko Hishida, Veronica Modesto, Kenneth E Diffenderfer, Clay Conner, William Biggs, Efren Sandoval, Agnieszka D'Antonio-Chronowska, W Travis Berggren, Juan Carlos Izpisua Belmonte, Kelly A Frazer
Induced pluripotent stem cells (iPSCs) show variable methylation patterns between lines, some of which reflect aberrant differences relative to embryonic stem cells (ESCs). To examine whether this aberrant methylation results from genetic variation or non-genetic mechanisms, we generated human iPSCs from monozygotic twins to investigate how genetic background, clone, and passage number contribute. We found that aberrantly methylated CpGs are enriched in regulatory regions associated with MYC protein motifs and affect gene expression...
April 6, 2017: Cell Stem Cell
https://www.readbyqxmd.com/read/28384718/micrometric-control-of-the-optics-of-the-human-eye-environment-or-genes
#6
Juan Tabernero, Lucía Hervella, Antonio Benito, Lucía Colodro-Conde, Juan R Ordoñana, Marcos Ruiz-Sanchez, José María Marín, Pablo Artal
Purpose: The human eye has typically more optical aberrations than conventional artificial optical systems. While the lower order modes (defocus and astigmatism) are well studied, our purpose is to explore the influence of genes versus the environment on the higher order aberrations of the optical components of the eye. Methods: We have performed a classical twin study in a sample from the Region of Murcia (Spain). Optical aberrations using a Hartmann-Shack sensor (AOnEye Voptica SL, Murcia, Spain) and corneal aberrations (using corneal topography data) were measured in 138 eyes corresponding to 69 twins; 36 monozygotic (MZ) and 33 dizygotic (DZ) pairs (age 55 years, SD 7 years)...
April 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28351037/impact-of-laser-power-and-firing-angle-on-coagulation-efficiency-in-laser-treatment-for-twin-twin-transfusion-syndrome-an-ex-vivo-placenta-study
#7
Joost Akkermans, Loes van der Donk, Suzanne H P Peeters, Sjoerd van Tuijl, Johanna M Middeldorp, Enrico Lopriore, Dick Oepkes
OBJECTIVE: To assess the impact of laser power and firing angle on coagulation efficiency for closing placental anastomoses in the treatment of twin-twin transfusion syndrome. METHODS: We used an ex vivo blood-perfused human placenta model to compare time to complete coagulation using 30 vs. 50 W of neodymium-doped yttrium aluminum garnet laser power and using a firing angle of 90° vs. 45°. Placentas were perfused with pig blood at 5 mL/min. Differences were analyzed using independent-samples t test, Mann-Whitney U test, or χ2 test as appropriate...
March 29, 2017: Fetal Diagnosis and Therapy
https://www.readbyqxmd.com/read/28348015/sympathetic-nerve-activity-in-monozygotic-twins-identical-at-rest-but-not-during-arousal
#8
Linda C Lundblad, John J Eskelin, Tomas Karlsson, B Gunnar Wallin, Mikael Elam
Microneurographic recordings of human muscle sympathetic nerve activity responses to sudden sensory stimuli (ie, arousal) have revealed 2 intraindividually reproducible response profiles in healthy young males that predict different neural and blood pressure responses to more sustained stress. Approximately 50% of subjects inhibit muscle sympathetic nerve activity during arousal, whereas the remaining 50% do not, and the latter group displays a markedly greater blood pressure increase in response to arousal, as well as during and after 3 minutes of mental arithmetic...
March 27, 2017: Hypertension
https://www.readbyqxmd.com/read/28340599/dna-methylation-changes-at-infertility-genes-in-newborn-twins-conceived-by-in-vitro-fertilisation
#9
Juan E Castillo-Fernandez, Yuk Jing Loke, Sebastian Bass-Stringer, Fei Gao, Yudong Xia, Honglong Wu, Hanlin Lu, Yuan Liu, Jun Wang, Tim D Spector, Richard Saffery, Jeffrey M Craig, Jordana T Bell
BACKGROUND: The association of in vitro fertilisation (IVF) and DNA methylation has been studied predominantly at regulatory regions of imprinted genes and at just thousands of the ~28 million CpG sites in the human genome. METHODS: We investigated the links between IVF and DNA methylation patterns in whole cord blood cells (n = 98) and cord blood mononuclear cells (n = 82) from newborn twins using genome-wide methylated DNA immunoprecipitation coupled with deep sequencing...
March 24, 2017: Genome Medicine
https://www.readbyqxmd.com/read/28333325/triple-paternal-contribution-to-a-normal-complete-molar-chimeric-singleton-placenta
#10
I Ariel, D Goldman-Wohl, S Yagel, E Gazit, R Loewenthal
A comprehensive study of unusual cases of placental pathology may provide insight into mechanisms of normal human fertilization and early embryonic development by examining the exception to the rule. A gravida three para two 39-year-old woman was monitored by ultrasound from 16 weeks of gestation for cystic placenta. A female newborn was born at 36 weeks gestation. Pathologic examination of the partially cystic placenta revealed a singleton placenta comprised of 2/3 normal placenta and 1/3 complete hydatidiform mole, largely degenerated...
May 1, 2017: Human Reproduction
https://www.readbyqxmd.com/read/28323984/trimester-specific-urinary-bisphenol-a-concentrations-and-blood-glucose-levels-among-pregnant-women-from-a-fertility-clinic
#11
Yu-Han Chiu, Lidia Mínguez-Alarcón, Jennifer B Ford, Myra Keller, Ellen W Seely, Carmen Messerlian, John Petrozza, Paige L Williams, Xiaoyun Ye, Antonia M Calafat, Russ Hauser, Tamarra James-Todd
Context: Women with a history of infertility are at increased risk of impaired glucose tolerance during pregnancy. Studies suggest higher urinary bisphenol A (BPA) concentrations are associated with diabetes in nonpregnant populations, but the association between BPA and glucose levels among pregnant women is unclear. Objective: To assess trimester-specific urinary BPA concentrations in relation to blood glucose levels among subfertile women. Design: Environment and Reproductive Health Study, an ongoing prospective cohort study...
April 1, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28301762/sex-differences-in-binge-eating-gonadal-hormone-effects-across-development
#12
Kelly L Klump, Kristen M Culbert, Cheryl L Sisk
Eating disorders are highly sexually differentiated disorders that exhibit a female predominance in risk. Most theories focus on psychosocial explanations to the exclusion of biological/genetic influences. The purpose of this descriptive review is to evaluate evidence from animal and human studies in support of gonadal hormone effects on sex differences in binge eating. Although research is in its nascent stages, findings suggest that increased prenatal testosterone exposure in males appears to protect against binge eating...
March 16, 2017: Annual Review of Clinical Psychology
https://www.readbyqxmd.com/read/28296290/game-xp-action-games-as-experimental-paradigms-for-cognitive-science
#13
Wayne D Gray
Why games? How could anyone consider action games an experimental paradigm for Cognitive Science? In 1973, as one of three strategies he proposed for advancing Cognitive Science, Allen Newell exhorted us to "accept a single complex task and do all of it." More specifically, he told us that rather than taking an "experimental psychology as usual approach," we should "focus on a series of experimental and theoretical studies around a single complex task" so as to demonstrate that our theories of human cognition were powerful enough to explain "a genuine slab of human behavior" with the studies fitting into a detailed theoretical picture...
March 13, 2017: Topics in Cognitive Science
https://www.readbyqxmd.com/read/28282074/-epigenetics-2-0-the-multiple-faces-of-the-genome
#14
Marcelo Rubinstein
Epigenetics is the branch of genetics that studies the dynamic relationship between stable genotypes and varying phenotypes. To this end, epigenetics aims to discover the molecular mechanisms that explain how different nutrients and hormones, environmental changes, and emotional, social and cognitive experiences modify gene expression and behaviors, even permanently so. Psychiatry has learned that diseases with strong genetic predisposition, such as schizophrenia, show a concordance of around 50% between monozygotic twins, thus evidencing the importance of the genetic background and the presence of environmental variables that stimulate or block phenotypic development...
September 2016: Vertex: Revista Argentina de Psiquiatriá
https://www.readbyqxmd.com/read/28254163/human-biomonitoring-pilot-study-democophes-in-germany-contribution-to-a-harmonized-european-approach
#15
Gerda Schwedler, Margarete Seiwert, Ulrike Fiddicke, Sissy Ißleb, Jürgen Hölzer, Julia Nendza, Michael Wilhelm, Jürgen Wittsiepe, Holger M Koch, Birgit K Schindler, Thomas Göen, Jörg Hildebrand, Reinhard Joas, Anke Joas, Ludwine Casteleyn, Jürgen Angerer, Argelia Castano, Marta Esteban, Greet Schoeters, Elly Den Hond, Ovnair Sepai, Karen Exley, Louis Bloemen, Lisbeth E Knudsen, Marike Kolossa-Gehring
Human biomonitoring (HBM) is an effective tool to assess human exposure to environmental pollutants, but comparable HBM data in Europe are lacking. In order to expedite harmonization of HBM studies on a European scale, the twin projects COPHES (Consortium to Perform Human Biomonitoring on a European Scale) and DEMOCOPHES (Demonstration of a study to Coordinate and Perform Human Biomonitoring on a European Scale) were formed, comprising 35 partners from 27 European countries. In COPHES a research scheme and guidelines were developed to exemplarily measure in a pilot study mercury in hair, cadmium, cotinine and several phthalate metabolites in urine of 6-11year old children and their mothers in an urban and a rural region...
February 6, 2017: International Journal of Hygiene and Environmental Health
https://www.readbyqxmd.com/read/28251419/transcriptome-profile-of-the-human-placenta
#16
Marta Majewska, Aleksandra Lipka, Lukasz Paukszto, Jan Pawel Jastrzebski, Kamil Myszczynski, Marek Gowkielewicz, Marcin Jozwik, Mariusz Krzysztof Majewski
The human placenta is a particular organ that inseparably binds the mother and the fetus. The proper development and survival of the conceptus relies on the essential interplay between maternal and fetal factors involved in cooperation within the placenta. In our study, high-throughput sequencing (RNA-seq) was applied to analyze the global transcriptome of the human placenta during uncomplicated pregnancies. The RNA-seq was utilized to identify the global pattern of the gene expression in placentas (N = 4) from women in single and twin pregnancies...
March 1, 2017: Functional & Integrative Genomics
https://www.readbyqxmd.com/read/28249216/three-dimensional-analysis-of-the-uniqueness-of-the-anterior-dentition-in-orthodontically-treated-patients-and-twins
#17
A Franco, G Willems, P H C Souza, O M Tanaka, W Coucke, P Thevissen
Dental uniqueness can be proven if no perfect match in pair-wise morphological comparisons of human dentitions is detected. Establishing these comparisons in a worldwide random population is practically unfeasible due to the need for a large and representative sample size. Sample stratification is an option to reduce sample size. The present study investigated the uniqueness of the human dentition in randomly selected subjects (Group 1), orthodontically treated patients (Group 2), twins (Group 3), and orthodontically treated twins (Group 4) in comparison with a threshold control sample of identical dentitions (Group 5)...
February 26, 2017: Forensic Science International
https://www.readbyqxmd.com/read/28220550/metabolomic-profiling-in-umbilical-venous-plasma-reveals-effects-of-dietary-rumen-protected-arginine-or-n-carbamylglutamate-supplementation-in-nutrient-restricted-hu-sheep-during-pregnancy
#18
L Sun, H Zhang, Y Fan, Y Guo, G Zhang, H Nie, F Wang
Maternal nutrient restriction during pregnancy is a major problem worldwide for human and animal production. Arginine (Arg) is critical to health, growth and reproduction. N-carbamylglutamate (NCG), a key enzyme in arginine synthesis, is not extensively degraded in rumen. The aim of this study was to investigate ameliorating effects of rumen-protected arginine (RP-Arg) and NCG supplementation on dietary in undernourished Hu sheep during gestation. From day 35 to 110 of gestation, 32 Hu ewes carrying twin foetuses were randomly divided into four groups: a control (CG) group (n = 8; fed 100% National Research Council (NRC) requirements for pregnant sheep), a nutrient-restricted (RG) group (n = 8; fed 50% NRC requirements, which included 50% mineral-vitamin mixture) and two treatment (Arg and NCG) groups (n = 8; fed 50% NRC requirements supplemented with 20 g/day RP-Arg or 5 g/day NCG, which included 50% mineral-vitamin mixture)...
February 20, 2017: Reproduction in Domestic Animals, Zuchthygiene
https://www.readbyqxmd.com/read/28214981/neural-mechanism-underling-comprehension-of-narrative-speech-and-its-heritability-study-in-a-large-population
#19
Abbas Babajani-Feremi
Comprehension of narratives constitutes a fundamental part of our everyday life experience. Although the neural mechanism of auditory narrative comprehension has been investigated in some studies, the neural correlates underlying this mechanism and its heritability remain poorly understood. We investigated comprehension of naturalistic speech in a large, healthy adult population (n = 429; 176/253 M/F; 22-36 years of age) consisting of 192 twin pairs (49 monozygotic and 47 dizygotic pairs) and 237 of their siblings...
February 18, 2017: Brain Topography
https://www.readbyqxmd.com/read/28185911/transcriptome-analysis-of-monozygotic-twin-brothers-with-childhood-primary-myelofibrosis
#20
Nan Ding, Zhaojun Zhang, Wenyu Yang, Lan Ren, Yingchi Zhang, Jingliao Zhang, Zhanqi Li, Peihong Zhang, Xiaofan Zhu, Xiaojuan Chen, Xiangdong Fang
Primary myelofibrosis (PMF) is a chronic myeloproliferative disorder in human bone marrow. Over 50% of patients with myelofibrosis have mutations in JAK2, MPL, or CALR. However, these mutations are rarely detected in children, suggesting a difference in the pathogenesis of childhood PMF. In this study, we investigated the response to drug treatment of a monozygotic twin pair with typical childhood PMF. The twin exhibited different clinical outcomes despite following the same treatment regimen. The transcriptomic profiles of patient samples after drug treatment (E2 and Y2) were significantly different between the twin pair, which is consistent with the observation that the drug treatment was effective only in the younger brother, despite the twin being genetically identical...
February 2017: Genomics, Proteomics & Bioinformatics
keyword
keyword
62775
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"