Human Genetic Epidemiology Using R.

Abstract:

:This chapter illustrates the biostatistical human genetics with an introduction to the T-Test, and the Manhattan Plots in statistics using Human Genetic Data concepts leading to procedures for Statistical Tests and Utilities for Genetic Association. Several R packages are chosen: iGasso, GenABEL, and HardyWeinberg. Other topics discussed include: Regression Decision Trees and Classifications Multi-dimensional Analysis in Genetic Epidemiology Regression Decision Trees and Classifications.

journal_name

Adv Exp Med Biol

authors

Chan BKC

doi

10.1007/978-3-319-93791-5_5

subject

Has Abstract

pub_date

2018-01-01 00:00:00

pages

217-341

eissn

0065-2598

issn

2214-8019

journal_volume

1082

pub_type

杂志文章
  • Establishing behavioral and physiological functions of central oxytocin: insights from studies of oxytocin and ingestive behaviors.

    abstract::Plasma oxytocin (OT) levels are strongly correlated with inhibition of ingestion in many models of stimulated food and NaCl intake in rats, but peripheral administration of OT or OT antagonists has little or no effect on these behaviors. These findings led us to propose that central OT secretion from parvocellular neu...

    journal_title:Advances in experimental medicine and biology

    pub_type: 杂志文章,评审

    doi:

    authors: Verbalis JG,Blackburn RE,Hoffman GE,Stricker EM

    更新日期:1995-01-01 00:00:00

  • Necrotizing Soft Tissue Infections: Case Reports from the Patients Prospective.

    abstract::All who have contributed in writing this chapter have been patients and parents that have experienced an horrific life event. The horrific disease named necrotising fasciitis has affected our lives for ever. All four stories have explained how easily an everyday infection can develop incredibly quickly into a life-thr...

    journal_title:Advances in experimental medicine and biology

    pub_type: 杂志文章

    doi:10.1007/978-3-030-57616-5_2

    authors: Cartledge D,Dove L,Richardson E,Wilkie R

    更新日期:2020-01-01 00:00:00

  • An integrated view of the determinants of maximum oxygen uptake.

    abstract::This paper develops an analysis of the interaction between circulatory convective and tissue diffusive O2 transport that explains how VO2 max is set by the integrated response to each and every step in the O2 transport chain from atmosphere to mitochondria. We suggest that it is not useful to search for "the" rate lim...

    journal_title:Advances in experimental medicine and biology

    pub_type: 杂志文章

    doi:10.1007/978-1-4684-5481-9_22

    authors: Wagner PD

    更新日期:1988-01-01 00:00:00

  • Polyamines and uremia.

    abstract::PAs are intracellular regulators of growth and anabolic processes. Toxic properties of PAs are conferred according to the increasing number of cationic charges. In uremia, PA accumulation occurs both in and outside the cell. Decreased PA synthesis and blunted PA pathway responses suggest PAs may participate in cellula...

    journal_title:Advances in experimental medicine and biology

    pub_type: 杂志文章

    doi:10.1007/978-1-4684-5445-1_6

    authors: Campbell RA

    更新日期:1987-01-01 00:00:00

  • Glossary of Relevant Genetic and Molecular/Cell Biology.

    abstract::The basic physical and functional unit of heredity; made up of DNA, they act as instructions to make proteins. There are about 20,000-25,000 genes in humans, with size varying from a few hundred DNA bases to more than 2 million bases. Most genes are the same in all people; less than 1% differ. Each person has two copi...

    journal_title:Advances in experimental medicine and biology

    pub_type: 杂志文章,评审

    doi:10.1007/978-3-319-95046-4_7

    authors: Tsang SH,Sharma T

    更新日期:2018-01-01 00:00:00

  • Effects of GLP-1 and Its Analogs on Gastric Physiology in Diabetes Mellitus and Obesity.

    abstract::The processing of proglucagon in intestinal L cells results in the formation of glucagon, GLP-1, and GLP-2. The GLP-1 molecule becomes active through the effect of proconvertase 1, and it is inactivated by dipeptidyl peptidase IV (DPP-IV), so that the half-life of endogenous GLP-1 is 2-3 min. GLP-1 stimulates insulin ...

    journal_title:Advances in experimental medicine and biology

    pub_type: 杂志文章,评审

    doi:10.1007/5584_2020_496

    authors: Maselli DB,Camilleri M

    更新日期:2021-01-01 00:00:00

  • The "Optimum Volume" of Acrylic Cement Filling for Treating Vertebral Compression Fractures: A Morphometric Study of Thoracolumbar Vertebrae.

    abstract::Percutaneous vertebroplasty is a treatment option in vertebral compression fractures (VCF). The aim of the study was to propose the mathematical calculation of the "optimum volume" of acrylic cement filling of the vertebral body, depending on the severity of a fracture. Two hundred computed tomography (CT) scans of ve...

    journal_title:Advances in experimental medicine and biology

    pub_type: 杂志文章

    doi:10.1007/5584_2019_417

    authors: Dzierżanowski J,Winklewski PJ,Skotarczak M,Baczkowska-Waliszewska Z,Szmuda T,Zdanowski S,Radkowski M,Łuczkiewicz P,Czapiewski P,Słoniewski P,Szurowska E,Demkow U,Szarmach A

    更新日期:2019-01-01 00:00:00

  • Simultaneous pathogen detection and antibiotic resistance characterization using SNP-based multiplexed oligonucleotide ligation-PCR (MOL-PCR).

    abstract::Extensive use of antibiotics in both public health and animal husbandry has resulted in rapid emergence of antibiotic resistance in almost all human pathogens, including biothreat pathogens. Antibiotic resistance has thus become a major concern for both public health and national security. We developed multiplexed ass...

    journal_title:Advances in experimental medicine and biology

    pub_type: 杂志文章

    doi:10.1007/978-1-4419-5913-3_51

    authors: Song J,Li PE,Gans J,Vuyisich M,Deshpande A,Wolinsky M,White PS

    更新日期:2010-01-01 00:00:00

  • Carcinogen-DNA adducts as tools in risk assessment.

    abstract::Genotoxic chemicals are known to react with DNA either directly or after metabolic activation to form adducts, a step thought to be relevant with respect to chemical carcinogenesis. Evaluation of cancer risk due to exposure to chemicals requires information about the internal dose which depends on individual variation...

    journal_title:Advances in experimental medicine and biology

    pub_type: 杂志文章,评审

    doi:10.1007/978-1-4757-3230-6_20

    authors: Airoldi L,Pastorelli R,Magagnotti C,Fanelli R

    更新日期:1999-01-01 00:00:00

  • Biogenesis of the Insulin Secretory Granule in Health and Disease.

    abstract::The secretory granules of pancreatic beta cells are specialized organelles responsible for the packaging, storage and secretion of the vital hormone insulin. The insulin secretory granules also contain more than 100 other proteins including the proteases involved in proinsulin-to insulin conversion, other precursor pr...

    journal_title:Advances in experimental medicine and biology

    pub_type: 杂志文章,评审

    doi:10.1007/978-3-030-12668-1_2

    authors: Guest PC

    更新日期:2019-01-01 00:00:00

  • Effects of Motor Imagery on Cognitive Function and Prefrontal Cortex Activity in Normal Adults Evaluated by NIRS.

    abstract::Recent near-infrared spectroscopy (NIRS) studies demonstrated that physical exercise enhances working memory (WM) performance and prefrontal cortex (PFC) activity during WM tasks in normal adults. Interestingly, the effects of rehabilitation (i.e. physiotherapy) on post-stroke patients could be enhanced by motor image...

    journal_title:Advances in experimental medicine and biology

    pub_type: 杂志文章

    doi:10.1007/978-3-319-55231-6_31

    authors: Moriya M,Sakatani K

    更新日期:2017-01-01 00:00:00

  • Computational Inferring of Risk Subpathways Mediated by Dysfunctional Non-coding RNAs.

    abstract::Non-coding RNAs mediated core elements of pathways contributes to the disorder of biological function in diseases. Identification of non-coding RNAs mediated subpathways not only can help for deciphering the pathogenic mechanism of complex diseases, but also can gain insight into the functional roles of non-coding RNA...

    journal_title:Advances in experimental medicine and biology

    pub_type: 杂志文章,评审

    doi:10.1007/978-981-13-0719-5_9

    authors: Xu Y,Zhang Y,Li X

    更新日期:2018-01-01 00:00:00

  • Purification of horse renal kallikrein and chemical relations with horse urinary kallikrein.

    abstract::Kallikrein was purified from horse kidney by several steps of chromatographic procedure and by affinity chromatography on Sepharose-Concanavaline. Horse urinary kallikrein was previously purified by DE-32 hydroxylapatite and by Sephadex G-100 gel filtration. On the purified final sample of renal and urinary kallikrein...

    journal_title:Advances in experimental medicine and biology

    pub_type: 杂志文章

    doi:10.1007/978-1-4757-0926-1_31

    authors: Porcelli G,Marini-Bettolo GB,Croxatto HR,Di Jorio M

    更新日期:1979-01-01 00:00:00

  • Engaging with Children Using Augmented Reality on Clothing to Prevent Them from Smoking.

    abstract::Smoking is a harmful habit, causing a range of severe consequences which could lead to premature death. This habit is still prevalent amongst young people. In order to protect children, effective early interventions supported by public instances need to be set in place. Raising awareness and educating the youth is cru...

    journal_title:Advances in experimental medicine and biology

    pub_type: 杂志文章

    doi:10.1007/978-3-030-43961-3_4

    authors: Borovanska Z,Poyade M,Rea PM,Buksh ID

    更新日期:2020-01-01 00:00:00

  • Molecular Aspects of Heparanase Interaction with Heparan Sulfate, Heparin and Glycol Split Heparin.

    abstract::Heparanase is the principal enzyme that degrades heparan sulfate (HS) in both physiological (HS turnover) and pathological (tumor metastasis, inflammation) cell conditions, catalysing the hydrolysis of the β-1-4 glycosidic bond in -GlcUA-β(1-4)-GlcNX-. Despite efforts to define the minimum trisaccharide sequence that ...

    journal_title:Advances in experimental medicine and biology

    pub_type: 杂志文章,评审

    doi:10.1007/978-3-030-34521-1_6

    authors: Elli S,Guerrini M

    更新日期:2020-01-01 00:00:00

  • Pleiotropic Effects of Risk Factors in Age-Related Macular Degeneration and Seemingly Unrelated Complex Diseases.

    abstract::Age-related macular degeneration (AMD) is a complex disease with both environmental and genetic factors influencing disease risk. Genome-wide case-control association studies, candidate gene analyses, and epidemiological studies reinforced the notion that AMD is predominantly a disease of an impaired complement system...

    journal_title:Advances in experimental medicine and biology

    pub_type: 杂志文章

    doi:10.1007/978-3-319-75402-4_30

    authors: Kiel C,Weber BHF,Grassmann F

    更新日期:2018-01-01 00:00:00

  • Cognitive Enhancement for Elderly Facing Dementia with the Use of Cognitive Rehabilitation Therapy Techniques and Psychological Treatment. A Case Study.

    abstract::Psychological therapies in order to provide cognitive enhancement have gained some momentum the last decades. The goal of this case study was to evaluate the effects of a cognitive enhancement training program on daily living activities, cognition, and depression in a demented elderly participant. A 6-month training p...

    journal_title:Advances in experimental medicine and biology

    pub_type: 杂志文章

    doi:10.1007/978-3-319-57379-3_9

    authors: Stratakou GD,Plerou A

    更新日期:2017-01-01 00:00:00

  • TRPC Channels and Cell Proliferation.

    abstract::TRPCs have been demonstrated to be widely expressed in different cancers. In recent years, a number of studies closely investigated the roles of TRPCs in cancer cells. Most of the results show that both mRNA and protein levels of TRPCs significantly increase in cancer tissues compared with healthy controls. TRPCs regu...

    journal_title:Advances in experimental medicine and biology

    pub_type: 杂志文章,评审

    doi:10.1007/978-94-024-1088-4_13

    authors: Zhan C,Shi Y

    更新日期:2017-01-01 00:00:00

  • Relationship Between Cerebral Blood Oxygenation and Electrical Activity During Mental Stress Tasks: Simultaneous Measurements of NIRS and EEG.

    abstract::The incidence of stress-induced psychological and somatic diseases has been increasing rapidly, and it is important to clarify the neurophysiological mechanisms of stress response in order to establish effective stress management methods. We previously reported that the prefrontal cortex (PFC) plays an important role ...

    journal_title:Advances in experimental medicine and biology

    pub_type: 杂志文章

    doi:10.1007/978-3-030-34461-0_14

    authors: Nagasawa Y,Ishida M,Komuro Y,Ushioda S,Hu L,Sakatani K

    更新日期:2020-01-01 00:00:00

  • Intestinal Transporter-Associated Drug Absorption and Toxicity.

    abstract::Oral drug administration is the most favorable route of drug administration in the clinic. Intestinal transporters have been shown to play a significant role in the rate and extent of drug absorption of some, but not all, drug molecules. Due to the heterogeneous expression of multiple transporters along the intestine,...

    journal_title:Advances in experimental medicine and biology

    pub_type: 杂志文章,评审

    doi:10.1007/978-981-13-7647-4_8

    authors: Xue Y,Ma C,Hanna I,Pan G

    更新日期:2019-01-01 00:00:00

  • Tumor oxygen dynamics: comparison of 19F MR EPI and frequency domain NIR spectroscopy.

    abstract::Oxygen plays a key role in tumor therapy and may be related to tumor development: e.g., angiogenesis and metastasis. Using noninvasive techniques to accurately measure tumor oxygenation could assist in developing novel therapies. Here, we have used the FREDOM (Fluorocarbon Relaxometry using Echo planar imaging for Dyn...

    journal_title:Advances in experimental medicine and biology

    pub_type: 杂志文章

    doi:10.1007/978-1-4615-0075-9_22

    authors: Song Y,Worden KL,Jiang X,Zhao D,Constantinescu A,Liu H,Mason RP

    更新日期:2003-01-01 00:00:00

  • The role of glyoxalase system in renal hypoxia.

    abstract::Methylglyoxal (MG), a highly reactive alpha-oxoaldehyde generated by oxidation of carbohydrate and glycolysis, binds to proteins and forms advanced glycation end products (AGE). MG and MG adducts have been implicated in oxidative stress-related diseases, therefore, MG detoxifying system such as the glyoxalase system (...

    journal_title:Advances in experimental medicine and biology

    pub_type: 杂志文章

    doi:10.1007/978-1-4419-1241-1_6

    authors: Inagi R,Kumagai T,Fujita T,Nangaku M

    更新日期:2010-01-01 00:00:00

  • DNA microarray reveals increased expression of thioredoxin peroxidase in thioredoxin-1 transfected cells and its functional consequences.

    abstract::The mammalian thioredoxins are a family of small redox proteins that undergo NADPH dependent reduction by thioredoxin reductase. Reduced thioredoxins reduce oxidized cysteine groups on proteins including transcription factors to increase their binding to DNA, and is a source of reducing equivalents for enzymes such as...

    journal_title:Advances in experimental medicine and biology

    pub_type: 杂志文章

    doi:10.1007/978-1-4615-0667-6_21

    authors: Husbeck B,Berggren MI,Powis G

    更新日期:2001-01-01 00:00:00

  • Regulation of Mitochondrial Dynamics and Autophagy by the Mitochondria-Associated Membrane.

    abstract::Mitochondria are powerhouses and central to metabolism in cells. They are highly dynamic organelles that continuously fuse, divide, and move along the cytoskeleton to form the mitochondrial network. The fusion and fission are catalyzed by four dynamin-related GTPases in mammals that are controlled by a variety of prot...

    journal_title:Advances in experimental medicine and biology

    pub_type: 杂志文章,评审

    doi:10.1007/978-981-10-4567-7_3

    authors: Tagaya M,Arasaki K

    更新日期:2017-01-01 00:00:00

  • Effect of chronic ischemia on bladder structure and function.

    abstract::Our studies with the animal model show that arterial stenosis and insufficiency--a common problem in the elderly--lead to marked changes in bladder structure and function. Moderate chronic ischemia leads to functional and structural changes quite different from those caused by severe chronic ischemia. The extent of hi...

    journal_title:Advances in experimental medicine and biology

    pub_type: 杂志文章,评审

    doi:10.1007/978-1-4419-8889-8_19

    authors: Azadzoi KM

    更新日期:2003-01-01 00:00:00

  • Investigation of frontal cortex, motor cortex and systemic haemodynamic changes during anagram solving.

    abstract::We have previously reported changes in the concentrations of oxy-(delta[HbO2]) deoxy- (delta[HHb]) and total haemoglobin (delta[HbT] = delta[HbO2] + delta[HHb]) measured using near infrared spectroscopy (NIRS) over the frontal cortex (FC) during an anagram solving task. These changes were associated with a significant...

    journal_title:Advances in experimental medicine and biology

    pub_type: 杂志文章

    doi:10.1007/978-0-387-74911-2_3

    authors: Tachtsidis I,Leung TS,Tisdall MM,Devendra P,Smith M,Delpy DT,Elwell CE

    更新日期:2008-01-01 00:00:00

  • HPLC Determination of Bioactive Sulfur Compounds, Amino Acids and Biogenic Amines in Biological Specimens.

    abstract::There is an increasing interest for analytical methods aimed to detect biological sulfur-containing amines, because of their involvement in human diseases and metabolic disorders. This work describes an improved HPLC method for the determination of sulfur containing amino acids and amines from different biological mat...

    journal_title:Advances in experimental medicine and biology

    pub_type: 杂志文章

    doi:10.1007/978-94-024-1079-2_42

    authors: Francioso A,Fanelli S,Vigli D,Ricceri L,Cavallaro RA,Baseggio Conrado A,Fontana M,D'Erme M,Mosca L

    更新日期:2017-01-01 00:00:00

  • Cardiovascular flow velocity measurements by 2D Doppler imaging for assessment of vascular function.

    abstract::Clinical two-dimensional (2D) Doppler ultrasound flow velocity measurement is important for determination of arterial wall shear stress, blood-tissue exchange, myocardial and valvular function. Such 2D Doppler flow velocity images are usually displayed in color, superimposed on the gray-scale, cross-section structural...

    journal_title:Advances in experimental medicine and biology

    pub_type: 杂志文章

    doi:10.1007/978-1-4615-2946-0_38

    authors: Adam DR,Kempner KM,Vivino MA,Tucker EE,Jones M

    更新日期:1993-01-01 00:00:00

  • Analysis of foodstuffs for dietary fiber by the urea enzymatic dialysis method.

    abstract::Total dietary fiber (TDF) values for cereal grains, fruits, vegetables, processed foods, and purified or semi-purified dietary fiber products were determined by a new method using 8M urea and enzymes (urea enzymatic dialysis, UED, method). The results are compared with the official AOAC procedure. Soluble and insolubl...

    journal_title:Advances in experimental medicine and biology

    pub_type: 杂志文章

    doi:10.1007/978-1-4684-5784-1_28

    authors: Jeraci JL,Lewis BA,Robertson JB,Van Soest PJ

    更新日期:1990-01-01 00:00:00

  • Vascular Telocytes.

    abstract::Telocyte, different to fibroblast and dendritic cell, is a novel type of interstitial cell, whose key features are their smaller cell body with very long prolongations of uneven caliber, termed telopodes. The telocytes have been continuously discovered to be present in many tissues and organs. Whether telocytes exist ...

    journal_title:Advances in experimental medicine and biology

    pub_type: 杂志文章,评审

    doi:10.1007/978-981-10-1061-3_24

    authors: Zhang H

    更新日期:2016-01-01 00:00:00