• The scientific presentations emphasized developmental processes, encompassing such areas as: 1) the role of homeobox genes and growth factors in inner ear development and plasticity, 2) effects of altered gravitational loading on the development of the inner ear gravity receptor, 3) effects of altered gravitational loading on developing and mature neuromuscular systems and 4) molecular mechanisms that determine muscle fiber diversity and hypertrophic responses. (nih.gov)
  • This work also identified two other loci associated with an increased risk of sCJD, in STX6 ( rs3747957) and GAL3ST1 (rs2267161) genes, indicating intracellular trafficking and sphingolipid metabolism as probable triggering mechanisms and corroborating the likely shared molecular dysregulation with other prion-like disorders [ 10 ]. (biomedcentral.com)
  • The difficulty classifying Charcot-Marie-Tooth subtypes is made more evident by the fact that mutations of each of these genes have been associated with multiple, overlapping phenotypes. (medscape.com)
  • To investigate whether mutations in this or other genes cause melanism in the wild, we investigated the genetic basis of melanism in the rodent genus Peromyscus, in which melanic mice have been reported in several populations. (gephebase.org)
  • These findings revealed that nonadditive genes and their related oxidative phosphorylation were the major genetic and molecular factors in the negative heterosis of growth in chickens, which would be beneficial to future breeding strategies. (biomedcentral.com)
  • Investigation of differentially expressed genes (DEGs) between crossbred and their parent lines might contribute to improving our understanding of the molecular basis for heterosis. (biomedcentral.com)
  • This research program will combine studies of candidate genes with large-scale gene expression analysis, several mapping approaches and comparative genomics to study the genetic basis of trait evolution in wild bird populations. (europa.eu)
  • Molecular pathologies and phenotypic correlations in frontotemporal dementia (FTD): The schematic shows major genes causing frontotemporal dementia, histopathological substrates, and clinical phenotypes. (capsulehealth.one)
  • Domestic animals provide an valuable resource for studying the of genetic and phenotypic variation that can be exploited to detect genes of importance to metabolism, growth, stress, the immune system, host-pathogen interaction, behavior, health, and hereditary diseases. (au.dk)
  • Some phenotypic traits are controlled by one or few genes and segregate into specific expression classes, such as tall versus short plants. (usda.gov)
  • For instance, if a trait is controlled by many genes, each with small effect, the phenotypic differences between the many possible genotypes would be minute, making it impossible to distinguish discrete classes. (usda.gov)
  • In the Course of Genetics, the student will learn the genetic mechanisms at the bases of Mendelian genetics, the main molecular aspects of the Central Dogma, how genes work, with emphasis on the relationship between the type of mutation and the resulting phenotype, and last the models for the study of evolutionary processes. (uninsubria.eu)
  • Genes and alleles, phenotype and genotype. (uninsubria.eu)
  • His laboratory participated in disentangling the natural history of the 16p11.2 rearrangements, i.e. their evolution, associated phenotypes and identification of major driver genes. (agbt.org)
  • We also report natural mutations in the O-antigen biosynthesis genes that potentially cause the rough LPS phenotype. (nau.edu)
  • Cytochrome P450s were the most overexpressed detoxification genes across all resistant phenotypes. (cdc.gov)
  • Rat models are frequently used for finding genes contributing to the arthritis phenotype. (medscape.com)
  • As a result, the linkage between the autoimmune experimental arthritis phenotype and the genomic region, that is, the quantitative trait locus, can cover several hundred genes. (medscape.com)
  • Each keyword was assigned a value, which was used for ranking genes based on their description of phenotypic gene effects. (medscape.com)
  • Although the basic process of reactive astrocytosis is evolutionarily conserved and accompanies all forms of neural injuries, the precise molecular mechanisms underlying the reactive astrocytosis processes are presently far from clear. (jneurosci.org)
  • However, little is known about the molecular mechanisms underlying the autoregulatory apoptosis of glia and the termination of neuroinflammation. (jneurosci.org)
  • Thus, both basic and clinical research for novel mechanisms and therapy of cardiomyopathy and vasculopathy are still needed, to elucidate molecular pathogenesis or therapeutic targets and to reduce mortality and improve the life quality. (mdpi.com)
  • Therefore, studies investigating novel molecular mechanisms of cardiovascular diseases, preclinical translational research, and clinical management that can shed some light to this important field are welcome in this Special Issue. (mdpi.com)
  • These data demonstrate that MAP3K4-dependent signalling events are required for normal expression of Sry during testis development, and create a novel entry point into the molecular and cellular mechanisms underlying sex determination in mice and disorders of sexual development in humans. (plos.org)
  • Here, we used chickens, the most common agricultural animals worldwide, to determine the genetic and molecular mechanisms of negative heterosis. (biomedcentral.com)
  • Molecular mechanisms are investigated from the gene level to their cellular function using primary cells (e.g. human and mouse stem cells), cell lines, and mouse models. (au.dk)
  • Within the field of genetics, Charité's main areas of research focus include the identification and analysis of disease mechanisms, biocomputational analysis, the analysis and linking of clinical symptoms (phenotype) with genetic variants, as well as the development of genetic testing sys-tems and their implementation in clinical practice. (charite.de)
  • The learning outcomes, in terms of "Knowledge and know" are: achievement of informed judgment, adequate expertise and communication skills in relation to the genetic mechanisms at the bases of Mendelian genetics, molecular aspects of DNA replication, of transcription and translation, gene function, evolutionary processes and the theoretical and practical bases of recombinant DNA technology. (uninsubria.eu)
  • An operational definition of asthma developed by experts logical mechanisms of different asthma phenotypes, including in the field (1) describes major attributes of the disorder. (cdc.gov)
  • It is stipulated that the phenotypic variation is a result of unlinked genetic modifiers. (wikipedia.org)
  • Familial influence on variation in age of onset and behavioural phenotype in Alzheimer's disease. (ox.ac.uk)
  • Establishing the molecular basis for this phenotypic variation may prove relevant to other neuropsychiatric disorders. (ox.ac.uk)
  • 38. Schielzeth H, Rios A & BURRI RETO (2018) Success and failure in replication of genotype-phenotype associations: How does replication help in understanding the genetic basis of phenotypic variation in outbred populations? (vogelwarte.ch)
  • By combining the high variation of mutagenised populations with novel screening methods, traits that are almost impossible to identify by conventional breeding are now being developed and characterised at the molecular level. (hindawi.com)
  • In 1927, Muller showed that X-ray treatment could increase the mutation rate in a Drosophila population by 15,000% [ 10 ], and a year later, Stadler observed a strong phenotypic variation in barley seedlings and sterility in maize tassels after exposure to X-rays and radium [ 11 , 12 ]. (hindawi.com)
  • At the molecular level, variation in gene expression is thought to constitute a significant source of phenotypic diversity [ 10 ]. (biomedcentral.com)
  • Overall, the program will be able to reveal the molecular genetic architecture behind phenotypic variation. (europa.eu)
  • A) The three genotypes differ in their phenotypes within each environment, indicating genetic variation (V G = yes). (comprehensivephysiology.com)
  • They provided initial evidence that CNVs shape tissue transcriptomes on a global scale and thus represent a substantial source for within-species phenotypic variation. (agbt.org)
  • In this review, we summarize the current knowledge concerning this phenotypic continuum, the molecular aspects of SOX10 mutations, the fundamental bases of its function in close link with the patients' features and the main ideas to keep in mind when considering this gene in human diagnosis. (bmj.com)
  • To locate such mutations, the dek phenotypes were introgressed into two inbred lines to take advantage of maize haplotype variations and their sequenced genomes. (usda.gov)
  • For instance, myelin protein zero mutations are associated CMT1B, Déjerine-Sottas syndrome, and the axonal CMT2 phenotype. (medscape.com)
  • Among other activities, the investigators are developing the tuberculosis relational sequencing platform (ReSeqTB), a system that will offer access to data and tools for identifying molecular mutations in TB samples and exploring correlations between these variations and drug susceptibility testing results. (genomeweb.com)
  • Relocating information that is currently collecting in siloed repositories into a shared pool accessible to researchers would help expand current knowledge on the genetic basis for resistance mutations, they wrote in CID . (genomeweb.com)
  • Chromosomal mutations: deletions, duplications, inversions and translocations and their effects on the phenotype. (uninsubria.eu)
  • Gene mutations: their rate and their molecular basis. (uninsubria.eu)
  • Different mutations give different phenotypic effects. (uninsubria.eu)
  • Before the changes in genotypes, the phenotype might change via transgenerational effects, the parental exposure to high thermal events leading to anticipated responses of the offspring when these events reoccur. (frontiersin.org)
  • Fortunately, technological developments within genome research, notably the recent ability to retrieve massive amounts of DNA sequence data based on next generation sequencing , will make possible completely novel investigations of the link between genotypes and phenotypes in non-model organisms. (europa.eu)
  • In each panel, dots connected by lines represent the phenotypes expressed by each of three genotypes (or families), numbered 1, 2, and 3, in each of two alternative environments (A, B). These lines are the reaction norms. (comprehensivephysiology.com)
  • Zellweger spectrum disorder (ZSD) is a phenotypic continuum ranging from severe to mild. (nih.gov)
  • FBN1-related Marfan syndrome (Marfan syndrome), a systemic disorder of connective tissue with a high degree of clinical variability, comprises a broad phenotypic continuum ranging from mild (features of Marfan syndrome in one or a few systems) to severe and rapidly progressive neonatal multiorgan disease. (nih.gov)
  • The disease is best characterized as a continuum of phenotypes. (medscape.com)
  • The disease is characterized by a continuum of phenotypes. (medscape.com)
  • The pipelines were validated with a known strawberry mutation before cloning the dek mutants, thereby enabling phenotypic analysis of large genomes by next-generation sequencing. (usda.gov)
  • Earlier this year, researchers associated with Médecins Sans Frontières/Doctors Without Borders reported the results of a study in which they discovered that approximately 30 percent of MDR TB strains collected during a 2009 outbreak in Swaziland contained a mutation that could not be detected by most molecular tests of drug resistance, including Cepheid's widely adopted GeneXpert MTB/RIF test. (genomeweb.com)
  • SCN1A-deficient excitatory neuronal networks display mutation-specific phenotypes. (medscape.com)
  • Creutzfeldt-Jakob disease (CJD) is characterized by a broad phenotypic spectrum regarding symptoms, progression, and molecular features. (biomedcentral.com)
  • Fourth, cross-modal analysis provides compelling evidence for the transcriptomic, epigenomic and gene regulatory basis of neuronal phenotypes such as their physiological and anatomical properties, demonstrating the biological validity and genomic underpinning of neuron types. (stanford.edu)
  • The realization, that dynamic alteration of genetic programs may also play a fundamental role in pathological processes, led to my focus on how various layers of genomic architecture are influencing a phenotype in health and disease. (yale.edu)
  • A survey produced by HTStec Ltd in June 2012 2 , derived from responses from 202 respondents worldwide, from research to Pharma to clinical laboratories, indicated that most respondents highly rated the specificity that could be provided by singlecell analysis versus the population analysis that is the basis of genomic and proteomic studies. (europeanpharmaceuticalreview.com)
  • The CGC tool was developed by combining genomic regions in the rat, associated with the autoimmune experimental arthritis phenotype, with rat/human gene homology data, and with descriptions of phenotypic gene effects and selected keywords. (medscape.com)
  • The CGC application ranks gene candidates for 37 rat genomic regions associated with autoimmune experimental arthritis phenotypes. (medscape.com)
  • and (i i) to develop (epi)genomic powerful molecular and/or cell biology and close col aboration to create synergies methodologies, profiling strategies, and functional genomics tools, recent progress and better exploit and further expand bioinformatics tools and resources that in understanding of the cancer (epi) unique research tools and expertise. (who.int)
  • It serves as a tool for the analysis and evaluation of phenotypic features using bioinformatics and other forms of computational analysis. (charite.de)
  • Paul Flicek is a Senior Scientist of the European Molecular Biology Laboratory and leads the Vertebrate Genomics Team at the European Bioinformatics Institute near Cambridge, England. (agbt.org)
  • To define better cellular events that are specifically vulnerable to WRN deficiency, I used RNA interference (RNAi) to silence the expression of Wrn gene and other RecQ helicases, linked to different clinical phenotypes, in primary human fibroblasts. (yale.edu)
  • These scientists represented disciplines that included molecular biology, molecular genetics, developmental neurobiology, auditory and vestibular morphophysiology, gravitational biology and motor control. (nih.gov)
  • In collaborative projects with Dr Robert Saunders (Open University) and Prof Alison Woollard (Biochemistry, Oxford), she has developed whole organism models of Werner syndrome in fruit flies and the nematode worm C. elegans, allowing integration of data from molecular biology and biochemical studies with whole animal biology. (dka.global)
  • The integration of systems biology concepts into biomedical studies has resulted in trans - formative advancements in both the amount and type of information that can be gained to help understand the basis of biocomplexity in health and disease. (europeanpharmaceuticalreview.com)
  • This has led to the birth of cytomic profiling whereby systems biology processes have been coupled with high dimensional flow cytometry to become the basis of a powerful discovery, prognostic, diagnostic and even therapeutic addition to 21st century biomedicine 3,4 . (europeanpharmaceuticalreview.com)
  • Last, the student will be able to critically discuss the relationship between genotype and phenotype and will be receptive to the next courses in molecular genetics and molecular biology. (uninsubria.eu)
  • After completion of his postdoctoral training with Dr Roger Brent in the Department of Molecular Biology, Massachusetts General Hospital and in the Department of Genetics, Harvard Medical School in Boston, he moved to the Telethon Institute of Genetics and Medicine (TIGEM) in Milan in 1998 to lead a research group. (agbt.org)
  • Understanding evolution requires the integration of knowledge across genomics, molecular and cell biology, development and ecology. (lu.se)
  • This study presents the first evidence implicating ARHGAP35 in human developmental ocular phenotypes. (nature.com)
  • Identifying the molecular basis of phenotypes that have evolved independently can provide insight into the ways genetic and developmental constraints influence the maintenance of phenotypic diversity. (gephebase.org)
  • We further present an extensive genetic toolset for targeting glutamatergic neuron types towards linking their molecular and developmental identity to their circuit function. (stanford.edu)
  • This module will focus on the genetic and developmental basis of adaptive change and evolutionary novelty. (lu.se)
  • While genomics, proteomics and metabolomics are familiar to most investigators, and even clinicians, cytomics, facilitated by high dimensional, single cell analysis is becoming a technology of choice for the elucidation of relevant phenotypic patterns that can be directly utilised in the clinical arena (Figure 1). (europeanpharmaceuticalreview.com)
  • Biomarkers are required to identify individuals in the preclinical phase, explain phenotypic diversity, measure progression and estimate prognosis. (lu.se)
  • DNA target sequencing identified multiple potential genetic contributors to the disease onset and phenotype, both in terms of coding, damaging-predicted variants, and enriched groups of SNPs in the whole cohort and the two subtypes. (biomedcentral.com)
  • Bulked segregant analysis is used to identify natural or induced variants that are linked to phenotypes. (usda.gov)
  • Two phenotypic variants are recognized, B6-responsive homocystinuria and B6-non-responsive homocystinuria. (nih.gov)
  • Based on survival periods, brain lesions profiles, disease-associated prion protein brain distribution, and biochemical properties of protease-resistant prion protein, typical BSE had a distint phenotype in ovine transgenic mice compared to L-type BSE and bovine TME. (cdc.gov)
  • Plant mutagenesis is rapidly coming of age in the aftermath of recent developments in high-resolution molecular and biochemical techniques. (hindawi.com)
  • Overall, the student will be able to assess the effect of variations in the genetic material on biochemical, physiological and molecular processes, with a special regard for quantitative traits. (uninsubria.eu)
  • In this cross-sectional study, mycobacteria specimens from 189 tuberculosis (TB) patients living in an urban area in Brazil were characterised from 2008-2010 using phenotypic and molecular speciation methods ( pncA gene and oxyR pseudogene analysis). (scielo.br)
  • The thermal plasticity of aquatic ectotherms to acute exposure or acclimation has already been investigated extensively to understand whether or not the extent of phenotypic plasticity is sufficient to respond to the changing climate. (frontiersin.org)
  • However, recent studies show that there is also a window of opportunity during the development of the organism where the phenotype might be mostly plastic, and the beneficial effects of phenotypic plasticity might be more long-lasting. (frontiersin.org)
  • Hence, there is no environmental effect on the phenotype (V E , or plasticity, is absent). (comprehensivephysiology.com)
  • The panels above (A‐D) are representations of the general requirements needed for recognizing phenotypic plasticity as an adaptation. (comprehensivephysiology.com)
  • It will also demonstrate and discuss modern applications of quantitative genetics such as methods for identifying the genetic basis of quantitative traits (QTL analysis), applications in plant breeding, conservation genetics, etc. (bath.ac.uk)
  • Demonstration and discussion of modern applications of quantitative genetic such as methods for identifying the genetic basis of quantitative traits (QTL analysis and genome-wide association studies), and applications of quantitative genetics in evolution, behaviour, breeding and conservation. (bath.ac.uk)
  • These quantitative traits have a complex genetic basis, being influenced by multiple genetic and environmental factors. (bath.ac.uk)
  • Consequently, traditional Mendelian genetics is not sufficient to understand the genetic basis and evolution of these traits. (bath.ac.uk)
  • Critically evaluate the appropriate literature on the genetic basis and evolvability of traits that vary quantitatively. (bath.ac.uk)
  • Resemblance for phenotypic characteristics was estimated using intraclass correlations for continuous traits and by pairwise concordance for dichotomous traits. (ox.ac.uk)
  • In this research topic, we welcome researchers to explore what kind of phenotypic changes are long-lasting, what are the molecular or genetic bases of the long-lasting traits and how can scientific discoveries inform conservation decisions in response to the changing climate. (frontiersin.org)
  • It is relatively easy to improve crops for such phenotypic traits using traditional breeding methods based on visual selection. (usda.gov)
  • The genetic basis of quantitative traits is not fully understood, but several theories abound. (usda.gov)
  • Using molecular gene mapping techniques, we investigated the genetic control of several quantitative traits and concluded that epistasis does indeed play a significant role in the expression of quantitative traits. (usda.gov)
  • Following identification of 19 QTLs affecting these traits, we investigated the role of epistasis in genetic control of these phenotypes. (usda.gov)
  • These results indicate that epistasis is an important genetic basis for complex traits such as yield components, especially GWP and GN. (usda.gov)
  • This work investigates the molecular basis of the phenotypic heterogeneity of prion diseases through a multi-omics analysis of the two most common sCJD subtypes: MM1 and VV2. (biomedcentral.com)
  • It is characterized by a wide phenotypic spectrum regarding first symptoms, disease progression, and histo-molecular features. (biomedcentral.com)
  • This Human Phenotype Ontology database contains the symptoms of all known genetic diseases, and stores them in digital format. (charite.de)
  • There is an immediate need to increase our understanding of the genetic basis for fitness differences in natural populations (Ellegren and Sheldon Nature 452:169-175, 2008). (europa.eu)
  • Together, our results establish a unifying and mechanistic framework of neuronal cell-type organization that integrates multi-layered molecular genetic and spatial information with multi-faceted phenotypic properties. (stanford.edu)
  • The core conserved molecular identities of neuronal and non-neuronal cell types allow us to generate a cross-species consensus classification of cell types, and to infer conserved properties of cell types across species. (stanford.edu)
  • State-of-the art technologies are used to investigate global molecular changes that arise during neuronal fate specification and differentiation from pluripotent embryonic stem (ES) cells. (yale.edu)
  • Current sporadic CJD (sCJD) classification recognizes six main clinical-pathological phenotypes. (biomedcentral.com)
  • Current sCJD classification recognizes six main clinical and pathological phenotypes that largely correlate at the molecular level with the genotype at PRNP codon 129 (methionine, M, or valine, V) and the protein type (1 or 2) [ 2 ] accumulated in the brain. (biomedcentral.com)
  • In terms of gene expression, microarray and RNA sequencing have been applied to determine the most affected biological processes and molecular pathways at various disease stages. (biomedcentral.com)
  • In particular, the gene expression patterns involved in some metabolic pathways are obviously correlated with heterotic phenotypes. (biomedcentral.com)
  • Since route of allergen exposure can influence mechanistic pathways, mice were sensitized by identical routes with a high molecular weight occupational allergen ovalbumin and a low molecular weight occupational allergen trimellitic anhydride (TMA). (cdc.gov)
  • exposures and lifestyle alter critical advances as well as the uniqueness and These developments have also led to molecular pathways and promote cancer strengths of IARC. (who.int)
  • However, these three models were mainly theoretical and could not provide a full explanation for the molecular basis and physiological causes of heterosis [ 8 , 9 ]. (biomedcentral.com)
  • In the section for Molecular Nutrition the research is focused on the identification, isolation and characterization of such bioactive food components in physiological systems. (au.dk)
  • Here, we studied the genetic and molecular basis of these phenotypic differences. (nau.edu)
  • The emphasis is on how studies of genomes and development help to understand how complex phenotypes arise and evolve. (lu.se)
  • it differs from penetrance, which refers to the proportion of individuals with a particular genotype that actually express the phenotype. (wikipedia.org)
  • Most have phenotypes with multiple defects and variable penetrance and expression. (nih.gov)
  • Notable exceptions are the tilted and tilted head mouse mutants, having only one identified phenotypic defect, the absence of otoconia, and 100% penetrance. (nih.gov)
  • Since then, the phenotypic spectrum has been broadened several times and now goes from mild to life-threatening phenotype. (bmj.com)
  • Thus, the extent of the phenotypic spectrum associated with a heterozygous EZH2 pathogenic variant is not yet known. (nih.gov)
  • Three common syndromes that involved phenotypic variability due to expressivity include: Marfan syndrome, Van der Woude Syndrome, and neurofibromatosis. (wikipedia.org)
  • LCN2 protein induced upregulation of glial fibrillary acidic protein (GFAP), cell migration, and morphological changes similar to characteristic phenotypic changes termed reactive astrocytosis. (jneurosci.org)
  • Individuals with a milder phenotype have mild-to-moderate intellectual disability, impaired hearing, characteristic coarse features, clinical or radiographic skeletal abnormalities, immunodeficiency, and primary central nervous system disease - mainly cerebellar involvement causing ataxia. (nih.gov)
  • Further development of the cmr models will permit elucidation of the complex molecular mechanism of these retinopathies and the development of potential therapies. (upenn.edu)
  • To compare the phenotypes of each TSE, bovine-passaged TME isolate and 3 distinct natural bovine spongiform encephalopathy (BSE) agents (typical BSE, H-type BSE, and L-type BSE) were inoculated into an ovine transgenic mouse line (TgOvPrP4). (cdc.gov)
  • The expanded use of mutant and transgenic animals offers many promising tools for investigating molecular bases of balance function and sensorimotor performance. (nih.gov)
  • Examples of high molecular environmental factors are known to influence the development weight occupational allergens include proteases used in the and expression of asthma, and a vast array of triggers of asthma detergent industry, laboratory animal allergens, and ovalbumin have been identified. (cdc.gov)
  • Although the existence of additional anomalies of the nervous system or other organ systems is difficult to exclude, the existing animal models are a valuable resource for understanding molecular bases for normal inner ear development. (nih.gov)
  • In recent years, we have seen dramatic advances in our understanding of these disorders and we now know the genetic basis of many of them. (qxmd.com)
  • The results add to the understanding of the molecular features associated with sporadic CJD and its most common subtypes, revealing strain-specific genetic signatures and functional similarities between VV2 and Parkinson's disease and providing preliminary evidence of RNA editing modifications in human sCJD. (biomedcentral.com)
  • Recent research aimed mainly at a better understanding of the genetic risk factors and modifiers associated with the onset and phenotypic expression of the sporadic disease: Genome-Wide Association Studies (GWAS) of large sCJD cohorts confirmed the significant association with PRNP codon 129, the strongest genetic risk factor [ 10 ]. (biomedcentral.com)
  • Understanding the molecular systems from the MV attenuation caused by a historic empirical procedure should concentrate on molecular focuses on for the logical design of fresh vaccines against measles. (nihvp.org)
  • Understanding the molecular basis of insecticide resistance in this species is crucial to design effective resistance management strategies. (cdc.gov)
  • Numerous phenotypes of asthma have inflammation, airway hyperresponsiveness and mucus produc- been described, and a better understanding of the pathophysio- tion. (cdc.gov)
  • Of 289 maize lines phenotyped for FAW damage in artificially infested, replicated field trials over three years, 31 were identified with good levels of resistance that could donate FAW resistance into elite but susceptible hybrid parents. (authorea.com)
  • The genetic bases for these mutants have not yet been established. (nih.gov)
  • Since moving to Oxford in 1996 to set up her own research lab, she has studied the molecular basis of ageing using longitudinal proteomics and functional approaches, as well as phenotypic screening to identify agents that can suppress the SASP and other deleterious phenotypes in senescent cells. (dka.global)
  • Genetic and phenotypic approaches are introduced that conceptualize, document and quantify selection and its outcome. (lu.se)
  • Second, we will track the genetic basis of behaviour using a unique breeding population of zebra finches and benefitting from the recently obtained genome sequence of this species. (europa.eu)
  • Affected individuals are best described as having either a phenotype consistent with either severe (Hurler syndrome) or attenuated MPS I, a distinction that influences therapeutic options. (nih.gov)
  • CONCLUSIONS: Substantial familial influence on age of onset, depression and agitation suggests that genotype does influence phenotype in Alzheimer's disease. (ox.ac.uk)
  • Melanic (darkly pigmented) phenotypes in mammals provide a potent system in which to study the genetic basis of naturally occurring mutant phenotypes because melanism occurs in many mammals, and the mammalian pigmentation pathway is well understood. (gephebase.org)
  • The Section comprises two identify specific molecular changes low- and middle-income countries. (who.int)
  • A deep commitment to academic medicine has fundamentally influenced my research interests, from years of basic molecular neuroscience research to becoming a double-boarded physician in Adult Neurology and Clinical Genetics with a continuing involvement in basic and translational research. (yale.edu)
  • The micro-ophthalmia related phenotypes observed in three families are consistent with those reported in the mouse model. (nature.com)
  • These two hits were selected to investigate the stability of the protein-ligand complex by molecular dynamics simulation. (bvsalud.org)
  • Journal of Molecular and Cellular Cardiology. (wikipedia.org)
  • Exploring the genetic, molecular and biological features of neural differentiation process from embryonic and patient-specific stem cells may offer an unprecedented chance to understand normal and abnormal human brain development and diseases, with implications for drug development and potential cellular replacement therapy. (yale.edu)
  • if immediate recombination does not occur, these can manifest as some type of molecular, cellular, or organic system alteration. (cdc.gov)
  • Human Molecular Genetics. (wikipedia.org)
  • Help List of clinical features of the condition/phenotype displayed from sources such as the Human Phenotype Ontology (HPO) and OMIM. (beds.ac.uk)
  • Her lab studies the molecular basis of ageing in human cells and in model organisms, with a particular focus on cell senescence, as well as premature ageing Werner syndrome. (dka.global)
  • Charité's Institute of Medical Genetics and Human Genetics is work-ing closely with the Max Planck Institute (MPI) for Molecular Genetics. (charite.de)
  • The 'Human Phenotype Ontology (HPO)' (used by the PhenIX computer program for the diagnosis of rare genetic diseases) was first developed in collaboration with the MPI and is now used by researchers all over the world. (charite.de)
  • The Ontology describes the phenotypic features recorded in relation to human diseases (in particular genetic diseases). (charite.de)
  • Unlike non- ionizing radiation (such as microwaves and ultraviolet radiation), which has insufficient energy to eject molecular electrons, ionizing radiation deposits sufficient energy to remove electrons from atomic orbits and create molecular ion pairs along particle tracks. (cdc.gov)
  • Fortunately, their skin manifestations can provide important diagnostic clues when evaluated in the entire phenotypic context. (qxmd.com)
  • This paper provides a comprehensive overview of the various techniques and workflows available to researchers today in the field of molecular breeding, and how these tools complement the ones already used in traditional breeding. (hindawi.com)
  • In three other studies, eliglustat was superior to placebo over nine months of treatment, outcomes were similar for patients treated with eliglustat or imiglucerase for 4 years, and outcomes of eliglustat treatment were similar when dosing regimens were determined based on CYP2D6-genotype-predicted phenotype or plasma eliglustat concentrations. (medscape.com)