• Genotype-phenotype correlations, dystonia and disease progression in spinocerebellar ataxia type 14. (ox.ac.uk)
  • New insights into genotype-phenotype correlations for the doublecortin-related lissencephaly spectrum. (medlineplus.gov)
  • Limited information on phenotypes attributable to RAD21 variants and genotype-phenotype relationships is currently published. (springer.com)
  • The virtual course meets Mondays, Wednesdays and Fridays beginning February 21 and ending March 9 and includes live and asynchronous instruction in addiction genetics and genomics, and live discussion sessions with biomedical researchers who work in the field. (jax.org)
  • Faculty-trainee teams will be hosted at JAX by program mentors, where they will make use of the advanced research resources at JAX to learn techniques needed to augment their research into addiction-related phenomena through the incorporation of mammalian genetics and genomics. (jax.org)
  • For example, the UK Biobank , a leading cohort study of half a million persons, has collected genomic, clinical and risk factor information and has contributed to numerous discoveries in human genetics. (cdc.gov)
  • Congenital coenzyme Q5-linked pathology: causal genetic association, core phenotype, and molecular mechanism. (bvsalud.org)
  • Subsequently, we comprehensively described patient 's clinical features as compared to phenotype and symptoms of other known congenital coenzyme Q5-linked cases. (bvsalud.org)
  • Mutations in the gene encoding neutrophil elastase (ELA2) are not sufficient to cause the phenotype of congenital neutropenia. (lu.se)
  • Is it possible to combine the SNPs/genotypes of the individuals with their respective phenotype data into a single file? (opensourcebiology.eu)
  • Two calves may be the same phenotype and yet be different genotypes . (angelo.edu)
  • Cattle that are BB are black but so are animals that are Bb: Two different genotypes that have the same phenotype . (angelo.edu)
  • Marijuana Phenotypes And Genotypes: What Are They? (thejointblog.com)
  • In the marijuana scene phenotypes and genotypes have become popular buzz-words. (thejointblog.com)
  • Are you confused about marijuana phenotypes and genotypes? (thejointblog.com)
  • Their genotypes and phenotypes varied according to the specific traits within the environment where they grew. (thejointblog.com)
  • Using TCR alpha and beta repertoire sequencing for T-cell subsets, as well as single-cell RNAseq and TCRseq, we track the concentrations and phenotypes of individual T-cell clones in response to primary and secondary yellow fever immunization - the model for acute infection in humans - showing their large diversity. (elifesciences.org)
  • As a result of the rapid advances in genetics technology and the Human Genome Project, most of the estimated 100,000 genes in humans will be identified by the year 2005 (1). (cdc.gov)
  • The phenotype of A is "No Horns" because the given answer "No Horns" corresponds to the genotype "HH" which indicates that the individual does not possess the allele for horns. (proprofs.com)
  • Black is the phenotype of a calf with at least one black (B) allele. (angelo.edu)
  • This diagram displays up to the top 30 positive interactions (green), negative interactions (orange), and phenotypes (blue) that are shared between the given allele (black) and other alleles (purple). (yeastgenome.org)
  • The ontology contains over 50,000 annotations between phenotypes and hereditary disease. (wikipedia.org)
  • Clinical annotations within the HPO are sought from the medical and genetics community to improve the ontology. (wikipedia.org)
  • Phenotype annotations for a gene are curated single mutant phenotypes that require an observable (e.g., "cell shape"), a qualifier (e.g., "abnormal"), a mutant type (e.g., null), strain background, and a reference. (yeastgenome.org)
  • In addition, annotations are classified as classical genetics or high-throughput (e.g., large scale survey, systematic mutation set). (yeastgenome.org)
  • The Human Phenotype Ontology (HPO) is a formal ontology of human phenotypes. (wikipedia.org)
  • The Human Phenotype Ontology (HPO) was created to serve as a standardized vocabulary of phenotypic abnormalities that have been seen in human disease. (wikipedia.org)
  • Applications for the data in the ontology include clinical diagnostics, mapping between phenotypes of model organisms, and as a standard vocabulary for clinical databases. (wikipedia.org)
  • We collected data on 16 morphological and functional phenotypic traits, host genetics (using 354 Single Nucleotide Polymorphisms) and surface-associated microbial communities (using 16S rRNA gene amplicon sequencing) from 160 individuals sampled from eight sites spanning Phyllospora's entire latitudinal distribution (1300 km). (datadryad.org)
  • As we are in the era of evidence-based molecular diagnosis, predictive testing, genetic counseling, gene-informed cancer risk assessment, and preventative and personalized medicine, therefore, studying the Mendelian genetics of the familial forms of cancer is one approach that can set up the basis for gene-informed risk assessment and management for the patient and family. (intechopen.com)
  • The difference between the heterozygous and homozygous phenotypes is likely related to gene product dosage effect. (bmj.com)
  • These sequence variants, along with variants controlling dysregulated gene expression that we characterised previously, most likely include the major determinants of SHR cardiovascular and metabolic disease phenotypes. (europa.eu)
  • This diagram displays phenotype observables (purple squares) that are shared between the given gene (yellow circle) and other genes (gray circles) based on the number of phenotype observables shared (adjustable using the slider at the bottom). (yeastgenome.org)
  • Finally, it seems appropriate to consider the "sodium channel syndrome" (mutations in the gene of the α subunit of the sodium channel, SCN5A gene) as a single clinical entity that may manifest in a wide range of phenotypes, to thus have a better insight on these cardiac syndromes and potential outcomes for their clinical treatment. (bvsalud.org)
  • Interestingly, the toll-like receptor 4 gene (Tlr4) has been shown to be a strong candidate susceptibility gene for ozone -induced increases in the BAL protein phenotype in inbred mice. (cdc.gov)
  • In some individuals, this phenotype ameliorates with age, resulting in a clinical catch-up and normal IQ in adulthood. (nature.com)
  • In the 20 individuals with limited clinical information, additional phenotypes include Mungan syndrome (in patients with biallelic variants) and holoprosencephaly, with or without CdLS characteristics. (springer.com)
  • Clinical Genetics. (wikipedia.org)
  • Marfan syndrome and the evolving spectrum of heritable thoracic aortic disease: do we need genetics for clinical decisions? (mpg.de)
  • Clinical charts of patients with suspected X-linked ALD who were followed up at the Neuro-Genetics Center between 1992 and 1998 were reviewed for age, availability of MR images of the brain, severity of neurologic impairment, and duration and number of follow-up evaluations. (ajnr.org)
  • This set of two PowerPoint slides featuring questions for problem-based discussion (i.e., open-ended questions that engage students with each other and with course material) can be easily incorporated into lectures on populations genetics. (berkeley.edu)
  • One of its key features is the creation of variation populations and the application of phenotype selection to improve plant varieties. (genbreedpublisher.com)
  • By creating variation populations and employing phenotype selection, breeders are able to more accurately select and improve plant varieties, enhancing crop yield, quality, and resistance. (genbreedpublisher.com)
  • Discover how your observable traits, or phenotypes, are the result of interactions between your genes and environment. (23andme.com)
  • In this study, we used comparative transcriptomics to identify differentially expressed genes underlying cln5 -deficiency phenotypes during growth and the early stages of multicellular development. (frontiersin.org)
  • These results formally establish causal association of biallelic COQ5 mutation with pathology , outline a core COQ5-linked phenotype , and identify mRNA mis-splicing as the molecular mechanism underlying all COQ5 variant-linked pathology to date. (bvsalud.org)
  • In genetics, uppercase letters represent dominant traits, while lowercase letters represent recessive traits. (proprofs.com)
  • Background Dominant mutations in peripherin ( PRPH2 ) are associated with a spectrum of retinal dystrophy phenotypes, many of which are adult onset and involve the macula. (bmj.com)
  • Variations in genetics, biology, and phenotype of cutaneous disorders in skin of color. (nih.gov)
  • Variations in the degree of mosaicism between tissues explained the phenotype. (lu.se)
  • Variations in Genetics, Biology, and Phenotype of Cutaneous Disorders " by Jessica B. Brown-Korsah, Shanice McKenzie et al. (gwu.edu)
  • BACKGROUND AND PURPOSE: NINDS (National Institute of Neurological Disorders and Stroke)-SiGN (Stroke Genetics Network) is an international consortium of ischemic stroke studies that aims to generate high-quality phenotype data to identify the genetic basis of pathogenic stroke subtypes. (edu.au)
  • International LRRK2 Consortium, Phenotype, genotype, and worldwide genetic penetrance of LRRK2-associated Parkinson's disease: a case-control study. (jamanetwork.com)
  • While the overall phenotypic 'richness' diminished during the season, the number of RAPD-PCR phenotypes decreased on cv. (cambridge.org)
  • Cux1 heterozygous ( Cux1 +/ − ) animals are fertile and display no obvious phenotypes, but an in-depth analysis of the consequence of heterozygosis has never been pursued [ 13 ]. (nature.com)
  • Heterozygous parents can be asymptomatic but have clinically obvious macular phenotypes with or without peripheral retinal findings, which can be helpful in making the genetic diagnosis in affected children. (bmj.com)
  • Variants were frequently familial, and genotype-phenotype analyses demonstrated striking interfamilial and intrafamilial variability. (springer.com)
  • Herein we selected a Mendelian genetics form of familial cancer such as hereditary tumor syndromic endocrine neoplasias caused by highly penetrant germline mutations leading to pheochromocytoma-paraganglioma syndromes. (intechopen.com)
  • Taking tolcapone in mid-gestation barely caused embryo lethality, however, the mice developed preeclampsia-like phenotypes, including maternal hypertension, proteinuria and fetal growth restriction. (biorxiv.org)
  • In summary, disease-causing CUX1 variants result in a non-syndromic phenotype of developmental delay and intellectual disability. (nature.com)
  • Their phenotype is an attenuated CdLS phenotype compared to that caused by variants in NIPBL or SMC1A for facial morphology, limb anomalies, and especially for cognition and behavior. (springer.com)
  • Increasingly, logistic regression methods for genetic association studies of binary phenotypes must be able to accommodate data sparsity, which arises from unbalanced case-control ratios and/or rare genetic variants. (karger.com)
  • As a result of thousands of genome-wide association studies (GWAS), we know now that common sequence variants contribute to complex human health phenotypes (e.g., blood pressure and lipid levels), and common diseases (e.g. cancer and heart disease). (cdc.gov)
  • Intermediate phenotypes in schizophrenia genetics redux: Is it a no brainer? (johnshopkins.edu)
  • Potential confounding by intermediate phenotypes in studies of the genetics of ischaemic stroke. (ox.ac.uk)
  • However, there are several intermediate phenotypes that are often involved in the aetiology of ischaemic stroke and that have a substantial genetic component themselves. (ox.ac.uk)
  • RESULTS: We identified 54 studies that investigated the odds of stroke conferred by a positive FHx, 24 of which reported data on FHx of one or more intermediate phenotypes in addition to FHx of stroke. (ox.ac.uk)
  • In conclusion, tolcapone causes embryo lethality and growth restriction in early gestation, while in mid-gestation tolcapone causes preeclampsia-like phenotypes in mice with defective trophoblast invasion. (biorxiv.org)
  • A genome-wide screen using 298 F2 mice (CByD2FlxCByD2FI) that were phenotyped for the development of pulmonary tolerance following 5X ZnO exposure identified a significant quantitative trait locus (QTL) for the BAL protein phenotype on chromosome 1. (cdc.gov)
  • 1. The Short Course on the Genetics of Addiction: A 3-week online course to learn about the multidisciplinary, foundational concepts that underlie the genetics of addiction . (jax.org)
  • It provides an opportunity for students to analyze amino acid data and draw conclusions about the evolution of coat-color phenotypes in the rock pocket mouse. (berkeley.edu)
  • We describe several additional cases with phenotypes including sclerocornea, in which involvement of the RAD21 variant is uncertain. (springer.com)
  • Genetics, phenotype, and natural history of autosomal dominant cyclic hematopoiesis. (lu.se)
  • The shared interactions or phenotypes can be visualized separately using the radio button at the bottom of the graph. (yeastgenome.org)
  • The research experiences are designed for teams of faculty, postdoctoral fellows, and undergraduate and graduate students underrepresented in science for training and mentored research projects utilizing advanced methods and resources for addiction genetics. (jax.org)
  • Numerous asthma phenotypes have been described, including occupational asthma, and therapeutic strategies for asthma control are similar regardless of phenotype. (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)
  • Although stem-cell-like tumor cells are well-studied, the roles of tumor cells undergoing differentiation in inducing the phenotypes associated with advanced cancers remains to be elucidated. (biorxiv.org)
  • Here, we employ Drosophila genetics to demonstrate that the native differentiation program of intestinal stem cells plays a key role in determining an intestinal tumor's capacity to invade and induce various non-tumor-autonomous phenotypes. (biorxiv.org)
  • Elimination of tumor cells in the enterocyte lineage allows stem cell-like tumor cells to grow but suppresses invasiveness and reshapes various phenotypes associated with cachexia-like wasting by altering the expression of tumor-derived factors. (biorxiv.org)
  • Rodent models offer significant advantages for analysis of disease phenotypes. (europa.eu)
  • These proposals provide a systematic route to elucidating the molecular and functional basis of disease phenotypes in SHR and WKY rats, and for translating these findings to advance understanding of common human diseases. (europa.eu)