Loci chromosomes human pair 12. Medical search. Frequent questions

This workflow searches for genes which reside in a QTL (Quantitative Trait Loci) region in the Pig, Sus scrofa. (myexperiment.org)
Methods A next-generation sequencing (NGS) panel was created for the human TRPV1 gene and in addition, for the leukotriene receptors BLT1 and BLT2 recently described to modulate TRPV1 mediated sensitisation processes rendering the coding genes LTB4R and LTB4R2 important co-players in pharmacogenetic approaches involving TRPV1. (researchgate.net)
The NGS workflow was based on a custom AmpliSeq™ panel and designed for sequencing of human genes on an Ion PGM™ Sequencer. (researchgate.net)
A cohort of 80 healthy subjects of Western European descent was screened to evaluate and validate the detection of exomic sequences of the coding genes with 25 base pair exon padding. (researchgate.net)
This identified approximately 140 chromosome loci where nucleotides deviated from the reference sequence GRCh37 hg19 comprising the three genes TRPV1, LTB4R and LTB4R2. (researchgate.net)
Whole-genome linkage screens in MS have both confirmed the importance of the HLA region and uncovered non-HLA loci that may harbor susceptibility genes. (nih.gov)
Together with data from other published genomewide scans, these findings lend support to the hypothesis that regions on chromosome 9p13-q21 and 12q24 may harbor susceptibility genes for type 2 diabetes. (ox.ac.uk)
That process identified "61 protein-coding and 33 noncoding loci that map better to this finished chromosome 8 sequence than to GRCh38, including the discovery of novel genes mapping to copy number polymorphic regions," they report. (pacb.com)
Twelve of these new genes were uncovered in that tricky β-defensin locus alone. (pacb.com)
The numbered bands specify the location of the thousands of genes that are present on each chromosome. (orthopedicshealth.com)
Genetic diseases are determined by the combination of genes for a particular trait that are on the chromosomes received from the father and the mother. (orthopedicshealth.com)
Genes Chromosomes Cancer. (umassmed.edu)
10, 12 The acrocentric short arms only bear ribosomal genes, and their duplication or deletion is not generally thought to be phenotypically significant. (bmj.com)
Quantitative trait locus (QTL) mapping efforts in alcohol (ethanol) research are beginning to generate promising data that may ultimately lead to the identification of genes influencing alcohol addiction. (elsevierpure.com)
We resolve chromosomal sequences and infer sex chromosome-specific parasite genes and new potential drug targets. (nature.com)
We identified six regions on chromosomes 2, 3, 4, 7, 11 and 14 as candidates to contain genes involved in breast cancer susceptibility, and additional fine mapping genotyping using microsatellite markers around linkage peaks confirmed five of them, excluding the region on chromosome 3. (biomedcentral.com)
Intragenic recombination among ospC genes is known, but the extent to which recombination extended beyond the ospC locus itself is undefined. (cdc.gov)
PCR analysis of the gene expression locus in the reisolates showed vsp1 was replaced by Vlp-encoded genes. (cdc.gov)

However, identification of genetic susceptibility loci for prostate cancer has been extremely difficult. (elsevierpure.com)
To our knowledge, this is the first genetic locus associated with both cancer risk and WHR. (ox.ac.uk)
Identifying genetic variants influencing human brain structures may reveal new biological mechanisms underlying cognition and neuropsychiatric illness. (ox.ac.uk)
Genetic polymorphism in the intergenic region (HBS1L-MYB) between GTP-binding elongation factor HBS1L and myeloblastosis oncogene MYB on chromosome 6q is associated with high fetal hemoglobin levels. (scirp.org)
Sickle cell disease is an inherited genetic disorder, resulting from homozygous and compound heterozygote mutation in the β globin gene as a single base-pair point mutation (GAG to GTG) results in the substitution of glutamic acid (hydrophilic) to Valine (hydrophobic) in the 6th position of the β-chain of hemoglobin resulting in hemoglobin S formation [7]. (scirp.org)
Genetic correlations between loci on different chromosomes can be high and can generate false positive linkage. (nervenet.org)
Chromosomes, which are present in the nucleus of human cells, carry the genetic information for each individual. (orthopedicshealth.com)
The terminal regions of human chromosomes are known to contain specialised DNA sequences and may be vulnerable to rearrangements causing human genetic diseases and particularly idiopathic mental impairment. (bmj.com)
Recent advances in nucleic acid sequencing now permit rapid and genome-scale analysis of genetic variation and transcription, enabling population-scale studies of human biology, disease, and diverse organisms. (biorxiv.org)
However, recent studies in many organisms and in humans have revealed significant protein sequence variation due to the presence of somatically acquired genetic variants, alternative transcription, and mRNA splicing, which are not necessarily annotated in reference databases. (biorxiv.org)
Although CRISPR defense systems are only found in microbes, they are analogous to the way in which the human immune system deploys short interfering RNAs (siRNAs) to fight off infections or correct genetic problems. (lbl.gov)
Genomewide linkage scans have become a widely used tool in the effort to unravel the genetic bases of human hereditary diseases. (biomedcentral.com)

In this study, we performed genome analyses of more than 1,000 bifidobacterial strains publicly available revealing that Bifidobacterium adolescentis taxon might represent a model GABA producer in human gastrointestinal tract. (nature.com)
As the Cow genome is currently unfinished, the workflow subsequently maps the cow ensembl gene ids to human orthologues. (myexperiment.org)
A genome-wide association study identifies a novel susceptibility locus for renal cell carcinoma on 12p11.23. (ox.ac.uk)
To identify additional RCC common susceptibility loci, we conducted an independent genome-wide association study (GWAS). (ox.ac.uk)
both clades were associated with human infection, 1 with poultry companies A and B and the other with company C. Accessory genome evolution was associated with a plasmid, phage insertions, and natural transformation. (cdc.gov)
We hypothesize that the tetO gene and a phage were inserted into the chromosome after conjugation, leaving a remnant plasmid that was lost from isolates from company C. The emergence and rapid spread of a resistant clone of C. jejuni in New Zealand, coupled with evolutionary change in the accessory genome, demonstrate the need for ongoing Campylobacter surveillance among poultry and humans. (cdc.gov)
See how the University of Washington used HiFi sequencing to uncover a key finding about ALS and the human genome. (pacb.com)
It is part of the broader T2T initiative to sequence and assemble the first truly complete human genome and follows the earlier release of the fully sequenced X chromosome. (pacb.com)
Since the announcement of the sequencing of the human genome 20 years ago, human chromosomes have remained unfinished due to large regions of highly identical repeats located within centromeres, segmental duplication, and the acrocentric short arms of chromosomes," the authors note. (pacb.com)
But the chromosome is also home to "one of the most structurally dynamic regions in the human genome-the β-defensin gene cluster located at 8p23.1-as well as a neocentromere located at 8q21.2, which have been largely unresolved for the last 20 years," the scientists write. (pacb.com)
The scientists also tackled that persnickety β-defensin gene cluster, "which we resolved into a single 7.06 Mbp locus-substantially larger than the 4.56 Mbp region in the current human reference genome," they note. (pacb.com)
The fact that no genome-wide significant locus was identified, can be explained by lack of power or may indicate that common variants do not play a major role in the etiology of PUV. (frontiersin.org)
identified six AF susceptibility loci ( PRRX1 , CAV1 , C9orf3 , SYNPO2L , SYNE2 , and HCN4 ) in addition to three previously reported loci ( PITX2 , ZFHX3 , and KCNN3 ) by a genome-wide association study (GWAS) conducted in individuals of European ancestry. (nature.com)
Mammalian Genome , 9 (12), 936-941. (elsevierpure.com)
We report here the whole-genome sequences of the human-infective Trichuris trichiura and the mouse laboratory model Trichuris muris . (nature.com)
Here we present high-quality genome sequences for T. trichiura and T. muris , the first duo of a major human STH and its mouse counterpart. (nature.com)
A microbe might harbor several CRISPR loci (sites) within its genome and each locus might contain between four and 100 CRISPR repeat-spacer units. (lbl.gov)
Genome-wide association studies (GWAS) have mapped risk alleles for at least 10 distinct cancers to a small region of 63 000 bp on chromosome 5p15.33. (sergas.gal)
Sequencing of the human genome has opened up several best-kept secrets of the genome. (jove.com)
The primer pair sets specific for each plasmid were derived from the genome sequence for B. miyamotoi strain CT13-2396, because the LB-2001 complete sequence had not been generated. (cdc.gov)
The recent completion of the LB-2001 genome sequence revealed a distinct number of plasmids (n=12) that differed from CT13-2396 (n=14). (cdc.gov)

Two alleles were found at this locus, D17Tu5 a and D17Tu5 b , defined by Taq I restriction fragment length polymorphism. (psu.edu)
We developed a pair of maize near-isogenic lines (NILs) with different alleles for a starch quantitative trait locus on chromosome 3 ( qHS3 ), resulting in different kernel starch content. (jipb.net)

Here we show that three of these SNPs, mapping to chromosome 10p15 (rs4750316), 12q13 (rs1678542) and 22q13 (rs3218253), are also associated (trend P = 4 x 10(-5), P = 4 x 10(-4) and P = 4 x 10(-4), respectively) in a validation study of 4,106 individuals with rheumatoid arthritis and an expanded reference group of 11,238 subjects, confirming them as true susceptibility loci in individuals of European ancestry. (ox.ac.uk)
0.05) associated SNPs--conferred susceptibility to MS: LAG3 on chromosome 12p13, and IL7R on 5p13. (nih.gov)
Additionally, SNP assays are more amenable to multiplexing and are easier to automate, and over 6 million validated human SNPs have been stored in public databases to date. (biomedcentral.com)
With artemisinin, the SNPs occurs at the Kelch 13-propeller gene locus on chromosome 13. (bvsalud.org)

10 kB of each other showing suggestive significance and with the same effect direction in all 4 cohorts, 3 loci comprising a total of 9 variants remained. (frontiersin.org)
Nevertheless, future studies are warranted to replicate and validate the 3 loci that yielded suggestive associations. (frontiersin.org)
When data were combined from BXD RI, B6D2F 2 and short- term selected line (STSL) mapping studies, verification was obtained for two QTLs, one on Chromosome (Chr) 9 (proximal-mid) and another on Chr 2 (distal), and suggestive verification was obtained for QTLs on Chrs 2 (proximal), 3, 4, 7, and 15. (elsevierpure.com)

Nevertheless, although ring chromosome 22 has been described in over 50 cases, 13 it remains uncertain whether the variable phenotype is caused by the loss of a variable amount of chromosomal material or by a cellular mosaicism arising from instability of the ring. (bmj.com)
C) on chromosome 4q25 with atrial fibrillation (AF), but phenotype alterations conferred by this SNP have not been described. (nature.com)

Hb F expression is affected by several quantitative trait loci (QTL) within and outside the β globin gene cluster. (scirp.org)
Recombinant inbred (RI) strains have been used to map a wide range of Mendelian loci and quantitative traits (Taylor, 1989). (nervenet.org)
This effectively elevates heritability and greatly improves prospects for mapping quantitative trait loci (QTLs). (nervenet.org)
Identification and fine mapping of quantitative trait loci for the number of vascular bundle in maize stem [J]. J Integr Plant Biol. (jipb.net)

The β-defensin cluster plays a key role in innate immunity and structural variation in this region has long been implicated in human disease. (pacb.com)
Sickle cell disease ( SCD ) is considered as one of the commonest gene disorders of human beings. (scirp.org)
A related, often sympatric species is Borrelia bissettii , but this species has not been associated with human disease. (cdc.gov)
Modeling human disease in humans: the ciliopathies. (medscape.com)

The locus proved to be polymorphic among inbred strains and wild mice. (psu.edu)
By testing of recombinant inbred strains and partial t haplotypes, the D17Tu5 locus could be mapped to a position between the D17Leh66E and D17Rp17 loci within the t complex. (psu.edu)

We provide two-locus correlograms that can be used to detect and correct for non-syntenic association and to reduce error rates in QTL mapping studies that exploit RI strains. (nervenet.org)
Mapping of a novel locus for achromatopsia (ACHM4) to 1p and identification of a germline mutation in the alpha subunit of cone transducin (GNAT2). (medlineplus.gov)

29(12): 1252-1265, 2022 12. (bvsalud.org)

Loss of the genomic locus 12q14 which contains the human protein encoding gene C12orf66 is linked to a number of developmental delays and neurodevelopment disorders such as macrocephaly. (wikipedia.org)
The complete centromere sequence of chromosome 8 shows a diversity of satellite repeats and other abundant genomic repeats, now with near perfect base-level resolution from end to end. (pacb.com)
We benchmarked PG2 using synthetic data and genomic, transcriptomic, and proteomic analysis of human leukemia cells. (biorxiv.org)
Genomic variations in a population can arise due to single nucleotide changes in the DNA or structural changes to chromosomes. (jove.com)

Chromosome 8 made an attractive target for the T2T's first autosome due to its manageable centromere (previously estimated at 1.5 Mb to 2.2 Mb long). (pacb.com)

Although the suggestion of linkage has been reported for many chromosomes, the most promising regions have been difficult to replicate. (elsevierpure.com)
Initially, linkage between chromosome 12q24 and impaired insulin secretion had been reported, by Mahtani et al. (ox.ac.uk)

The final consensus maps are based on 1578 microsatellite loci and these maps have a cumulative length of approximately 1400 cM after adjustment for recombination frequencies of RI strains. (nervenet.org)

Usually located on a microbe's chromosome, CRISPR units consist of "repeats," base-pair sequences ranging from 30 to 60 nucleotides in length, that are separated by "spacers," variable sequences, which are also 30 to 60 nucleotides in length. (lbl.gov)
Cascade will release crRNAs that will bind with foreign nucleic acid sequences - via base pair matching to a "seed" sequence of nucleotides - and silence or otherwise inactivate them. (lbl.gov)

Allele-specific effects on DNA methylation were seen for a subset of risk loci, indicating that methylation and subsequent effects on gene expression may contribute to the biology of risk variants on 5p15.33. (sergas.gal)
Our results provide strong support for extensive pleiotropy across this region of 5p15.33, to an extent not previously observed in other cancer susceptibility loci. (sergas.gal)

In 2014, antimicrobial drug-resistant Campylobacter jejuni sequence type 6964 emerged contemporaneously in poultry from 3 supply companies in the North Island of New Zealand and as a major cause of campylobacteriosis in humans in New Zealand. (cdc.gov)
We improved the base-pair accuracy of the sequence scaffolds by replacing the raw ONT sequence with several concordant PacBio HiFi contigs," the team reports. (pacb.com)
Next, they generated HiFi data for the chromosome 8 orthologs in chimpanzee, macaque, and orangutan to compare the sequence data and reconstruct the evolutionary history of the human autosome. (pacb.com)
The repeated sequence TTAGGG is present at all tested vertebrate telomeres including those of humans and at the telomeres of evolutionarily very distant organisms such as trypanosomes and slime moulds. (westminster.ac.uk)
Fluorescence in situ hybridization and BAL31 nuclease digestion demonstrate that the (TTAGGG)n sequence occurs at the extreme termini of the chromosomes and also at an interstitial site. (westminster.ac.uk)

The pathogenic germline deletion of varying lengths of chromosomal material along the short arm of chromosome 11, including WT1 and PAX6 , is the underlying defect. (medscape.com)
Subject A has a large deletion on chromosome 11 that removes one copy of the BDNF gene. (medscape.com)
Twelve patients had a simple terminal 22q13 deletion (cases 18 to 29). (bmj.com)

American journal of human genetics , 75 (6), 948-965. (elsevierpure.com)
Nature Genetics , 40 (12), 1404-6. (edgehill.ac.uk)

In the t(1;14)(p34;q11) translocation associated with T cell acute lymphoblastic leukemia (T-ALL), the breakpoints on chromosome 1 interrupt the tal-1 gene. (elsevierpure.com)
The occurrence of breakpoints conforms to a Poisson distribution with a mean of 1.9 to 3.5 recombinations per chromosome. (nervenet.org)

rs7980687 on chromosome 12q24 (P = 8.1 × 10(-9)) and rs1042725 on chromosome 12q15 (P = 2.8 × 10(-10)) were robustly associated with head circumference in infancy. (ox.ac.uk)

Identification of common variants associated with human hippocampal and intracranial volumes. (ox.ac.uk)
Sequencing of amplicons from the expression locus of the reisolates confirmed the presence of a predominant majority serotype population with minority variants. (cdc.gov)

This must be supported by chromosome replication and epigenetic reprogramming, but how proliferation and cell fate acquisition are balanced in this process is not well understood. (bvsalud.org)
Despite that, replication timing, chromosome compartment structure, topological associated domains (TADs) and promoter-enhancer contacts are shown to be variable between distinct epigenetic states. (bvsalud.org)

These syndromes result from the loss of chromosomal material from the short arm of chromosome 11. (medscape.com)
WAGR syndrome is caused by the contiguous loss of chromosomal material from the short arm of chromosome 11. (medscape.com)

β-thalassemia results from numerous mutations or rarely deletions of the β globin gene on chromosome 11. (scirp.org)

A specific pair of GROUP E CHROMOSOMES of the human chromosome classification. (umassmed.edu)
For metabolized to reactive electro- icity in humans, but the classification bis(chloromethyl)ether (BCME), the philes. (who.int)

Lateral gene transfers resulted in different linkages between the ospC gene and loci of the chromosome or other plasmids. (cdc.gov)
consists of an approximate 1 megabase chromosome and multiple linear and circular plasmids. (cdc.gov)
Therefore, we re-evaluated the original CT13-2396-derived multiplex PCR primer pairs and determined their location in the LB-2001 plasmids. (cdc.gov)

11 And human diseases, including cancer in particular, tend to be defined by the presence of proteins with altered and pathogenic sequences. (biorxiv.org)
1979. Chemicals and industrial processes associated with cancer in humans. (cdc.gov)

For example, most human tissues in healthy individuals acquire somatic nucleotide substitutions, insertions, deletions and DNA rearrangements, leading to the production of variant protein isoforms. (biorxiv.org)

Chromosomes, Human, Pair 17" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings) . (umassmed.edu)

186(12): 2610-2627.e18, 2023 Jun 08. (bvsalud.org)

In humans, C12orf66 has higher than average expression in a number of tissues such as endocrine glands as well as lymphoid tissues and cells. (wikipedia.org)
A number of experiments using different human embryonic stem cell lines, oocytes, as well as erythroblasts found C12orf66 expression was increased in these cells earlier in development and expression decreased as these cells became more differentiated. (wikipedia.org)
Human body cells normally have 46 chromosomes. (orthopedicshealth.com)
The remaining cells are broadly associated with ectoderm and mesoderm identities, showing only mild differentiation of TADs and compartment structures, but more specific localized contacts in hundreds of ectoderm and mesoderm promoter-enhancer pairs. (bvsalud.org)
For example, in patients with sickle cell anemia, a single base substitution from adenine to thymine in a specific locus of the beta-globin gene causes sickle-shaped red blood cells. (jove.com)

Genomes of individuals strains typically incorporate 45-55 recombinations between parental chromosomes. (nervenet.org)

A distinct group of 22q13 monosomies has been reported that result from the formation of a ring chromosome which combines loss of some long arm material with loss of part of the short arm, with no clinical consequences. (bmj.com)

The gene is mapped to chromosome 20q12-q13.1, a region that has been shown to be linked to type 2 diabetes. (diabetesjournals.org)
For example, "12q13.11-q13.20" refers to a region between bands 13.11 and 13.20 on the long arm of chromosome 12. (orthopedicshealth.com)
Role of the tau gene region chromosome inversion in progressive supranuclear palsy, corticobasal degeneration, and related disorders. (umassmed.edu)

A set of 490 markers that were typed in all constituent RI sets were used as anchor loci to assemble high-resolution framework maps. (nervenet.org)

The PITX gene encode the paired-like homeodomain transcription factor family. (nature.com)

Received 12 February 2009 of chemicals on germ cell mutagenicity. (cdc.gov)
Relevant of mutagenicity and clastogenici- angiosarcomas of the liver, which carcinogens discussed in this chap- ty, including the induction of sister are rare tumours, were identified in ter do not include pharmaceutical chromatid exchange (SCE), chro- humans, rats, and mice exposed to drugs classified in Group 1, which mosomal aberrations (CA), and mi- vinyl chloride. (who.int)

The mouse × Chinese hamster cell line R4 4-1 contains only one mouse chromosome, the bulk of which corresponds to Mus musculus chromosomes 17 and 18 (MMU17 and MMU18, respectively). (psu.edu)
We find that embryonic chromosomes show a remarkably strong cell cycle signature. (bvsalud.org)

Anatomy62

Organisms12

Diseases22

Chemicals and Drugs27

Analytical, Diagnostic and Therapeutic Techniques and Equipment26

Psychiatry and Psychology2

Phenomena and Processes175

Disciplines and Occupations3

Anthropology, Education, Sociology and Social Phenomena1

Technology, Industry, Agriculture3

Information Science4

Health Care2

Genes18

Genetic12

Genome21

Alleles2

SNPs4

Suggestive3

Phenotype2

Quantitative4

Disease4

Inbred strains2

Mapping2

20221

Genomic4

Centromere1

Linkage2

Microsatellite1

Nucleotides2

5p15.332

Sequence5

Deletion3

Genetics2

Breakpoints2

12q241

Variants2

Replication2

Chromosomal2

Mutations1

Classification2

Plasmids3

Cancer2

Nucleotide1

MeSH1

20231

Cells5

Recombinations1

Distinct1

Region3

Assemble1

Transcription factor1

Mutagenicity2

Cell2