keyword
MENU ▼
Read by QxMD icon Read
search

Genetics

keyword
https://www.readbyqxmd.com/read/27933721/shared-molecular-networks-in-orofacial-and-neural-tube-development
#1
Youssef A Kousa, Tamer A Mansour, Haitham Seada, Samaneh Matoo, Brian C Schutte
BACKGROUND: Single genetic variants can affect multiple tissues during development. Thus it is possible that disruption of shared gene regulatory networks might underlie syndromic presentations. In this study, we explore this idea through examination of two critical developmental programs that control orofacial and neural tube development and identify shared regulatory factors and networks. Identification of these networks has the potential to yield additional candidate genes for poorly understood developmental disorders and assist in modeling and perhaps managing risk factors to prevent morbidly and mortality...
December 9, 2016: Birth Defects Research. Part A, Clinical and Molecular Teratology
https://www.readbyqxmd.com/read/27933683/genetics-and-the-conservation-of-natural-populations-allozymes-to-genomes
#2
Fred W Allendorf
I consider how the study of genetic variation has influenced efforts to conserve natural populations over the last 50 years. Studies with allozymes in the 1970s provided the first estimates of the amount of genetic variation within and between natural populations at multiple loci. These early studies played an important role in developing plans to conserve species. The description of genetic variation in mitochondrial DNA in the early 1980s laid the foundation for the field of phylogeography, which provided a deeper look in time of the relationships and connectivity among populations...
December 9, 2016: Molecular Ecology
https://www.readbyqxmd.com/read/27933663/3p26-3-terminal-deletions-a-challenge-for-prenatal-genetic-counseling
#3
Veronica Bertini, Alessia Azzarà, Benedetta Toschi, Simone Gana, Angelo Valetto
No abstract text is available yet for this article.
December 9, 2016: Prenatal Diagnosis
https://www.readbyqxmd.com/read/27933661/mutations-in-the-neb-gene-cause-fetal-akinesia-arthrogryposis-multiplex-congenita
#4
Michal Feingold-Zadok, David Chitayat, Karen Chong, Marie Injeyan, Patrick Shannon, Daphne Chapmann, Ron Maymon, Nir Pillar, Orit Reish
OBJECTIVE: We studied a series of patients with fetal akinesia deformation sequence (FADS)/arthrogryposis multiplex congenita (AMC), with nemaline bodies on muscle specimens, that revealed mutations in the NEB gene. METHOD: We pathologically assessed seven cases from three families, who presented with AMC/FADS. Targeted genetic analysis for Ashkenazi Jewish (AJ) mutation (in relevant patients) was followed by next generation sequencing and Multiplex Ligation-dependent Probe Amplification...
December 9, 2016: Prenatal Diagnosis
https://www.readbyqxmd.com/read/27933602/fish-tales-the-use-of-zebrafish-xenograft-human-cancer-cell-models
#5
REVIEW
Yvette Drabsch, B Ewa Snaar-Jagalska, Peter Ten Dijke
Advances in scientific techniques have provided researchers with exceptional new opportunities to identify and monitor changes between different cancer types, during different stages of progression, between individual tumor cells and in the surrounding stroma. The wealth of information that can be obtained from new scientific techniques places additional requirements on the conventional cancer models. New models that could be used to rapidly access the (potential) functional importance of newly identified (epi)genetic and proteomic changes and test the efficacy on emerging (combinatorial) therapies are desperately required...
December 9, 2016: Histology and Histopathology
https://www.readbyqxmd.com/read/27933583/looking-beyond-the-5-httlpr-polymorphism-genetic-and-epigenetic-layers-of-regulation-affecting-the-serotonin-transporter-gene-expression
#6
REVIEW
Sandra Iurescia, Davide Seripa, Monica Rinaldi
Serotonin (5-HT) is a neurotransmitter that regulates fundamental aspects of brain development, physiology and behaviour. The serotonin transporter (5-HTT) is deputized to the reuptake of 5-HT from the intersynaptic space in the presynaptic neurons. 5-HTT governs duration and magnitude of 5-HT biological actions, acting as a master regulator of the fine-tuning of 5-HT signalling. Genetic variation at SLC6A4 gene locus, encoding 5-HTT, contributes to alteration in 5-HT reuptake. The 5-HTTLPR/rs25531/rs25532 polymorphisms located in the promoter region of SLC6A4 gene have been associated with stress-related psychopathology and functional brain phenotypes...
December 8, 2016: Molecular Neurobiology
https://www.readbyqxmd.com/read/27933557/atypical-presentation-and-treatment-response-in-a-child-with-familial-hypercholesterolemia-having-a-novel-ldlr-mutation
#7
S Varma, A D McIntyre, R A Hegele
Familial hypercholesterolemia (FH) is an autosomal codominantly inherited disease. The severity of clinical presentation depends on the zygosity of the mutations in the LDLR, APOB, or PCSK9 genes. The homozygous form (HoFH) is associated with high mortality rate by third decade of life, while individuals with HeFH begin to suffer from premature cardiovascular disease in fourth or fifth decade of life. Statin drugs have helped to improve the biochemical profile and life expectancy in HeFH, while they are only minimally effective in HoFH...
December 9, 2016: JIMD Reports
https://www.readbyqxmd.com/read/27933546/using-systems-genetics-to-understanding-the-etiology-of-complex-disease
#8
Ramesh Ram, Grant Morahan
Here, we discuss Systems Genetics applications for systematic evaluation of candidate causal genes together with follow-up bioinformatics pathway analysis. The aim of this chapter is to illustrate analytic procedures and we provide examples in the context of Type 1 diabetes (T1day), the risk of which is conferred by over 60 loci. We also describe the Type 1 Diabetes Systems Genetics website and provide a guide for its use and application to other diseases.
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/27933545/the-collaborative-cross-resource-for-systems-genetics-research-of-infectious-diseases
#9
Paul L Maurizio, Martin T Ferris
An increasing body of evidence highlights the role of host genetic variation in driving susceptibility to severe disease following pathogen infection. In order to fully appreciate the importance of host genetics on infection susceptibility and resulting disease, genetically variable experimental model systems should be employed. These systems allow for the identification, characterization, and mechanistic dissection of genetic variants that cause differential disease responses. Herein we discuss application of the Collaborative Cross (CC) panel of recombinant inbred strains to study viral pathogenesis, focusing on practical considerations for experimental design, assessment and analysis of disease responses within the CC, as well as some of the resources developed for the CC...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/27933544/dissection-of-host-susceptibility-to-bacterial-infections-and-its-toxins
#10
Aysar Nashef, Mahmoud Agbaria, Ariel Shusterman, Nicola Ivan Lorè, Alessandra Bragonzi, Ervin Wiess, Yael Houri-Haddad, Fuad A Iraqi
Infection is one of the leading causes of human mortality and morbidity. Exposure to microbial agents is obviously required. However, also non-microbial environmental and host factors play a key role in the onset, development and outcome of infectious disease, resulting in large of clinical variability between individuals in a population infected with the same microbe. Controlled and standardized investigations of the genetics of susceptibility to infectious disease are almost impossible to perform in humans whereas mouse models allow application of powerful genomic techniques to identify and validate causative genes underlying human diseases with complex etiologies...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/27933543/integrative-analysis-of-genetic-genomic-and-phenotypic-data-for-ethanol-behaviors-a-network-based-pipeline-for-identifying-mechanisms-and-potential-drug-targets
#11
James W Bogenpohl, Kristin M Mignogna, Maren L Smith, Michael F Miles
Complex behavioral traits, such as alcohol abuse, are caused by an interplay of genetic and environmental factors, producing deleterious functional adaptations in the central nervous system. The long-term behavioral consequences of such changes are of substantial cost to both the individual and society. Substantial progress has been made in the last two decades in understanding elements of brain mechanisms underlying responses to ethanol in animal models and risk factors for alcohol use disorder (AUD) in humans...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/27933542/complex-genetics-of-behavior-bxds-in-the-automated-home-cage
#12
Maarten Loos, Matthijs Verhage, Sabine Spijker, August B Smit
This chapter describes a use case for the genetic dissection and automated analysis of complex behavioral traits using the genetically diverse panel of BXD mouse recombinant inbred strains. Strains of the BXD resource differ widely in terms of gene and protein expression in the brain, as well as in their behavioral repertoire. A large mouse resource opens the possibility for gene finding studies underlying distinct behavioral phenotypes, however, such a resource poses a challenge in behavioral phenotyping. To address the specifics of large-scale screening we describe how to investigate: (1) how to assess mouse behavior systematically in addressing a large genetic cohort, (2) how to dissect automation-derived longitudinal mouse behavior into quantitative parameters, and (3) how to map these quantitative traits to the genome, deriving loci underlying aspects of behavior...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/27933541/social-interactions-and-indirect-genetic-effects-on-complex-juvenile-and-adult-traits
#13
David G Ashbrook, Reinmar Hager
Most animal species are social in one form or another, yet many studies in rodent model systems use either individually housed animals or ignore potential confounds caused by group housing. While such social interaction effects on developmental and behavioral traits are well established, the genetic basis of social interactions has not been researched in as much detail. Specifically, the effects of genetic variation in social partners on the phenotype of a focal individual have mostly been studied at the phenotypic level...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/27933540/systems-genetics-of-obesity
#14
Gudrun A Brockmann, Danny Arends, Sebastian Heise, Ayca Dogan
Obesity is a complex trait, determined by many genes and influenced by environmental factors. Mapping genomic loci contributing to obesity helps to identify gene variants responsible for differences in the phenotype. However, measuring fat content alone is often not sufficient to identify the underlying gene or genes. Besides in-depth phenotyping, well-designed genetic populations and the combined analysis of data of different origins are necessary to detect one of several genetic determinants. Structured mouse populations and linking information from different experiments help to simplify the complexity in the search for direct genetic effects or factors that are hidden in the genome...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/27933539/systems-genetics-analysis-of-iron-and-its-regulation-in-brain-and-periphery
#15
Byron C Jones, Leslie C Jellen
In this contribution, we demonstrate the utility of the systems genetics-systems biology approach to the study of iron regulation while employing a comprehensive database. We describe our work in iron regulation in the brain and periphery under normal iron and iron-restricted dietary conditions in the BXD family of recombinant inbred mouse strains. Using multiple measures, we showed wide variation among the strains in the effect of being fed an iron-restricted diet for 100 days in every measure from brain and from the periphery...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/27933538/systems-genetics-of-liver-fibrosis
#16
Rabea A Hall, Frank Lammert
This systems genetics analysis comprises quantitative measurements of hepatic fibrogenesis in mouse models and mapping of quantitative traits in mouse genetic reference populations. It is part of a large mapping project of fibrogenic genes including the analyses of experimental crosses from different inbred mouse strains. Extensive quantitative trait loci (QTL) mapping of fibrosis phenotypes and liver expression profiling in combination with in silico mapping facilitated the identification of QTL regions and underlying candidate genes that confer fibrosis susceptibility also in humans...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/27933537/complex-genetics-of-cardiovascular-traits-in-mice-f2-mapping-of-qtls-and-their-underlying-genes
#17
Svitlana Podliesna, Connie R Bezzina, Elisabeth M Lodder
In this chapter, we will use the example of the identification of Tnni3k as a modulator of cardiac conduction to introduce you to the use of a murine F2-generation intercross as a powerful method for the identification of novel genes relevant for cardiovascular traits. Murine F2-progeny is a genetically diverse panel of mice with differences in phenotype manifestations, e.g. cardiovascular traits such as cardiomyopathy and ECG parameters. This chapter discusses the best strategies for using F2-mice for genetic mapping...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/27933536/genetic-dissection-of-variation-in-hippocampal-intra-and-infrapyramidal-mossy-fibers-in-the-mouse
#18
Anna Delprato, Wim E Crusio
This chapter describes the genetic analysis of a morphometric neuroanatomic trait. We used the extended BXD family of recombinant inbred mouse strains with the intent to analyze the genetic bases of heritable differences in hippocampal neurocircuitry and to identify Quantitative Trait Loci that underlie these variations. A detailed description of a GeneNetwork analysis is provided using data for the intra- and infrapyramidal mossy fiber (IIPMF) terminal fields which are strongly correlated with spatial navigation/radial maze learning...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/27933535/systems-genetics-analysis-to-identify-the-genetic-modulation-of-a-glaucoma-associated-gene
#19
Sumana R Chintalapudi, Monica M Jablonski
Loss of retinal ganglion cells (RGCs) is one of the hallmarks of retinal neurodegenerative diseases, glaucoma being one of the most common. Recently, γ-synuclein (SNCG) was shown to be highly expressed in the somas and axons of RGCs. In various mouse models of glaucoma, downregulation of Sncg gene expression correlates with RGC loss. To investigate the regulation of Sncg in RGCs, we used a systems genetics approach to identify a gene that modulates the expression of Sncg, followed by confirmatory studies in both healthy and diseased retinas...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/27933534/genomic-control-of-retinal-cell-number-challenges-protocol-and-results
#20
Patrick W Keeley, Irene E Whitney, Benjamin E Reese
This chapter considers some of the challenges in obtaining accurate and consistent estimates of neuronal population size in the mouse retina, in order to identify the genetic control of cell number through QTL mapping and candidate gene analysis. We first discuss a variety of best practices for analyzing large numbers of recombinant inbred strains of mice over the course of a year in order to amass a satisfactory dataset for QTL mapping. We then consider the relative merits of using average cell density versus estimated total cell number as the target trait to be assessed, and why estimates of heritability may differ for these two traits when studying the retina in whole-mount preparations...
2017: Methods in Molecular Biology
keyword
keyword
1380
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"