We replicated previous associations for cardioembolic stroke near PITX2 and ZFHX3 and for large vessel stroke at a 9p21 locus. (nature.com)
If you were born with genetic variation at the 9p21 locus, your risk of heart disease is elevated, though we haven't understood why. (stanford.edu)
The shared haplotype containing the SPAG8 variant selleck products in this small pedigree was 22.7 Mb and overlapped with the core 9p21 linkage locus for ALS and frontotemporal dementia. (cdk-receptor.com)
Recently, a locus on chromosome 6q22.33 (rs2180341) was reported to be associated with increased breast cancer risk in the Ashkenazi Jewish (AJ) population, and this association was also observed in populations of non-AJ European ancestry. (escholarship.org)
Whole genome1
We performed whole-genome sequencing in five family members from a pedigree with autosomal-dominant classical ALS. (cdk-receptor.com)
9p21.33
Sequence variants on chromosome 9p21.3 confer risk for atherosclerotic stroke. (nature.com)
A recent genome-wide association study of intracranial aneurysms in Finnish, Dutch and Japanese cohorts totaling 5,891 cases and 14,181 controls identified three new loci strongly associated with intracranial aneurysms on chromosomes 18q11.2 and 10q24.32, and replicated two previously found loci on chromosomes 8q11.23-q12.1 and 9p21.3. (biomedcentral.com)
Recent genome-wide association studies of breast cancer have identified eight additional breast cancer susceptibility loci: rs1011970 (9p21, CDKN2A/B), rs10995190 (ZNF365), rs704010 (ZMIZ1), rs2380205 (10p15), rs614367 (11q13), rs1292011 (12q24), rs10771399 (12p11 near PTHLH) and rs865686 (9q31.2). (escholarship.org)
Genome9
In Iceland he has pioneered the use of population-scale genetics to understand variation in the sequence of the human genome. (wikipedia.org)
However, in the mid-1990s the tools for reading the sequence of the genome were primitive. (wikipedia.org)
Advances in our knowledge about the workings of genes and their variants coupled with technological advances in analysing the genome along with improved bioinformatics has enabled greater understanding of the underlying molecular aetiology of ischaemic stroke. (bmj.com)
This, among other benefits of a geographically isolated population, has enabled the identification by means of linkage, and more recently by genome-wide association (GWA) studies, of an impressive number of variants contributing to the development of common/complex disease [ 5 ]. (biomedcentral.com)
OBJECTIVES- Genome-wide association studies have dramatically increased the number of common genetic variants that are robustly associated with type 2 diabetes. (diabetesjournals.org)
Recent progress over the last two decades in the field of molecular genetics, especially with new tools such as genome-wide association studies, has helped to identify new genes and their variants, which can be used for calculations of risk, prediction of treatment efficacy, or detection of subjects prone to drug side effects. (mdpi.com)
Summary: Comparative genomics remains a pivotal strategy to study the evolution of gene organization, and this primacy is reinforced by the growing number of full genome sequences available in public repositories. (omictools.com)
To improve our understanding of this important human pathogen, the C. jejuni NCTC11168 genome was sequenced and published in 2000. (omictools.com)
We now describe the complete re-annotation and re-analysis of the C. jejuni NCTC11168 genome using current database information, novel tools and annotation techniques not used during the original annotation.ResultsRe-annotation was carried out using sequence database searches such as FASTA, along with programs such as TMHMM for additional support. (omictools.com)
Gene6
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). (nih.gov)
The candidate gene approach focuses on the search for an association between T2DM and sequence variants in or near biologically defined candidate genes which have been chosen based on their known physiological function. (scialert.net)
The continuing work by deCODE genetics on 50 common diseases is sure to result in a slew of additional gene findings and help to characterize the allelic spectrum of disease-predisposing variants. (biomedcentral.com)
A common missense variant of the CDKN2A gene (A148T) predisposes to malignant melanoma in Poland. (bmj.com)
Trichorhinophalangeal syndrome (TRPS) comprises TRPS I (caused by a heterozygous pathogenic variant in TRPS1) and TRPS II (caused by contiguous gene deletion of TRPS1, RAD21, and EXT1). (beds.ac.uk)
Analysis of NF1 gene variants among thirteen patients with neurofibromatosis type 1]. (cdc.gov)
Genomic3
His work has focused on how genomic diversity is generated and on the discovery of sequence variants impacting susceptibility to common diseases. (wikipedia.org)
Experts at Memorial Sloan Kettering recently applied genomic sequencing approaches to help change that. (medpagetoday.com)
Advanced genomic sequencing technologies allow detection of blood circulating tumor DNA and urinary tumor DNA. (medpagetoday.com)
Exome2
Lazova et al performed exome sequencing of 77 melanocytic specimens composed of Spitz nevi (n=29), spitzoid melanomas (n=27), and benign melanocytic nevi (n=21), and they compared the results with published melanoma sequencing data. (medscape.com)
Her research has encompassed GWAS, sequencing, large exome chip association studies, as well as addressing more complex phenotypic analyses (e.g. (cardiff.ac.uk)
Atrial fibrillation3
Risk variants for atrial fibrillation on chromosome 4q25 associate with ischemic stroke. (nature.com)
The association of the 4q25 susceptibility variant for atrial fibrillation with stroke is limited to stroke of cardioembolic etiology. (nature.com)
A sequence variant in ZFHX3 on 16q22 associates with atrial fibrillation and ischemic stroke. (nature.com)
CDKN2A1
In Poland, a single missense variant of CDKN2A (an alanine to threonine substitution at codon 148: A148T) is present in approximately 3% of the general population. (bmj.com)
Type 2 diabet1
Here, we assess the ability of 18 confirmed type 2 diabetes variants to differentiate between type 2 diabetic case and control subjects. (diabetesjournals.org)
Deletions2
With the exception of activating HRAS variants, they found few additional mutations in Spitz nevi, and few copy number changes other than 11p amplification and chromosome 9 deletions. (medscape.com)
New approaches, including identification of causal variants, rare variants and copy number variants, such as insertions and deletions, may improve genetic risk prediction for SAH and intracranial aneurysms. (biomedcentral.com)
Pathogenic2
It is possible that missense variants of genes for which truncating mutations are clearly pathogenic may also be deleterious, but with reduced penetrance. (bmj.com)
Detecting the pathogenic mutations or risk variants for each ALS individual is challenging. (biomedcentral.com)
Stroke1
Leeper, a physician and assistant professor of vascular surgery, and colleagues Yoko Kojima, MD, Tom Quertermous , MD, and others set out to discover why genetic variation at the chromosome 9p21 location has been repeatedly identified as the most important commonly inherited DNA sequence for a wide range of cardiovascular diseases including stroke, heart attacks and aneurysms. (stanford.edu)
Tumor2
Spitz nevus may still be regarded as a clinically and histologically distinct variant of melanocytic nevus composed of spindled and/or epithelioid melanocytes (in the configuration of a benign tumor). (medscape.com)
Tumor and Constitutional Sequencing for Neurofibromatosis Type 1. (cdc.gov)
Linkage1
Mutations in SPAG8 were not encountered in 34 other unexplained ALS pedigrees, including 1 with linkage to chromosome 9p13.223.3. (cdk-receptor.com)
Mutations2
A minority of Spitz nevi (approximately 15%) exhibit HRAS mutations, reflected by an isolated gain of chromosome 11p as a characteristic DNA copy number alteration. (medscape.com)
However, ALS patients carrying some specific mutations or variant may exhibit subtly distinct clinical features. (biomedcentral.com)
Allelic1
Abundance of LRP12 C-rs9694676 allelic promoter variant in epilepsy-associated gangliogliomas. (nih.gov)
Risk3
You can be a non-smoker, be thin, have low blood pressure, and still be at risk for a heart attack if you were born with this variant. (stanford.edu)
T2DM is a complex trait where common genetic variants having modest individual effects act together and interact with environmental factors to modulate the risk of the disease. (scialert.net)
The AUC for age, BMI, and sex was 0.78, and adding the genetic risk variants only marginally increased this to 0.80. (diabetesjournals.org)
Common1
The spectrum of Spitz nevi includes junctional, compound (most common), and intradermal variants. (medscape.com)
Clinical1
[ 4 ] Many other clinical and histologic variants have been described. (medscape.com)
Protein1
Creating sequence-expression-activity maps accelerates the optimization of many protein systems and allows previous measurements to quantitatively inform future designs. (omictools.com)
Computational1
We developed a computational approach to build predictive models and identify optimal sequences and expression levels, while circumventing combinatorial explosion. (omictools.com)
Additional4
This list of variants was effectively shortened by genotyping these variants in 2 additional unaffected family members and 1500 unrelated population-specific controls. (cdk-receptor.com)
Using model predictions, we designed and characterized 47 additional pathway variants to navigate its activity space, find optimal expression regions with desired activity response curves, and relieve rate-limiting steps in metabolism. (omictools.com)
The re-annotation also utilises sequence data from additional Campylobacter strains and species not available during the original annotation. (omictools.com)
The C. jejuni NCTC11168 re-annotation reduced the total number of coding sequences from 1654 to 1643, of which 90.0% have additional information regarding the identification of new motifs and/or relevant literature. (omictools.com)
Data1
These investigators analyzed clinicopathological and outcomes data to better categorize the effects of 9 different types of variant histologies on disease-specific survival in patients with urothelial carcinoma of the bladder. (medpagetoday.com)
Association1
Genotypes of three single nucleotide polymorphisms (SNPs) of LOXL1 (rs1048661, rs3825942, and rs2165241) were analyzed with direct sequencing, and a case-control association study was performed. (molvis.org)
Molecular1
First, molecular events in T2DM pathogenesis have been examined directly by testing the role of sequence variants of specific candidate genes. (scialert.net)
Distinct1
Pigmented spindle cell nevus (Reed nevus) is regarded by most authorities as a clinically and histologically distinct variant of Spitz nevus. (medscape.com)
Cancer2
To determine whether this variant also predisposes to breast cancer. (bmj.com)
In other words, a commonly inherited genetic variant, which is found in 20 percent of the population, contributes to the development of coronary artery disease (also known as coronary atherosclerosis) by stimulating the accumulation of necrotic debris within the evolving plaque. (stanford.edu)
Identify1
identify novel coding variants segregating with the disease. (cdk-receptor.com)
Rare3
A novel rare coding variant in SPAG8 on chromosome 9p13.3 segregated with the disease and was not observed in controls. (cdk-receptor.com)
the effect size for the rare rs3798220 variant was similar (dominant OR 1.47, 95% CI 0.81 to 2.67, p = 0.20), but power was limited to demonstrate significance. (cret-signal.com)
In lymphomas I have conducted studies in rare aggressive primary cutaneous tumors such as gamma/delta T cell lymphoma (expanding the description of the epidermotropic variant) as well as more indolent entities such as lymphomatoid papulosis (type D) and CD4-positive small to medium size T cell lymphoproliferative disorders. (mdanderson.org)
Search1
We then combined the search algorithm with system-level kinetic modeling, requiring the construction and characterization of 73 variants to build a sequence-expression-activity map (SEAMAP) for a biosynthesis pathway. (omictools.com)
Results1
Alternate splicing results in multiple transcript variants. (nih.gov)
Patients1
Early prediction of functional prognosis in neurofibromatosis type 2 patients based on genotype-phenotype correlation with targeted deep sequencing. (cdc.gov)