Genomic 13 chromosomes human pair 13. Medical search. Frequent questions

The sSMC's small size makes it virtually undetectable using classical cytogenetic methods: the far larger DNA and gene content of the cell's normal chromosomes obscures those of the sSMC. (wikipedia.org)
All rat symbols are compared with official symbols from orthologous human genes as specified by the Human Gene Nomenclature Committee (HGNC). (biomedcentral.com)
Rat symbols that do not match a human ortholog undergo a strict procedure of comparisons between the different rat gene sources as well as with the Mouse Genome Database (MGD). (biomedcentral.com)
In order to facilitate the full use of this genomic resource there has been an extensive exploration of the rat genome with a focus on gene finding. (biomedcentral.com)
The HUGO Gene Nomenclature Committee (HGNC) under the Human Genome Organisation (HUGO) fulfils this need in human by ensuring that only a single symbol is approved for each gene [ 6 ]. (biomedcentral.com)
Thus, by using the human as a template for gene naming the gene symbols in mouse and rat becomes integrated into the human gene nomenclature system. (biomedcentral.com)
Adopting human gene symbols for orthologous genes in other mammals is both a rational and a practical way to create a coherent and meaningful gene nomenclature. (biomedcentral.com)
This information, together with the previous identification of a child with CdLS with a de novo t(5;13)(p13.1;q12.1) translocation, allowed delineation of a 1.1-Mb critical region on chromosome 5 for the gene mutated in CdLS. (nih.gov)
He suggested to introduce the term chromosomics being equal to cytogenomics to bring the three-dimensional morphologically of chromosomes into the focus of research, as this is essential for gene regulation. (frontiersin.org)
Another recent study has shown that for mouse and human, sequence identity for inparalogs is the strongest predictor of gene function ( e.g . much stronger than orthology) [ 9 ]. (biomedcentral.com)
this extra information affords us the power to detect less similar pairs of inparalogs, and provides robustness against gene loss. (biomedcentral.com)
The gene encoding Sec31B is located on chromosome 10q24 and contains 29 exons. (biologists.com)
The presence of a stop codon in exon 13 generates two families of Sec31B gene products (each displaying additional patterns of mRNA splicing): a group of full-length proteins (hereafter referred to as Sec31B-F) and also a group of truncated proteins (hereafter referred to as Sec31B-T), distinguished by their utilization of exon 13. (biologists.com)
All homologous chromosome pairs contain two variant forms of the same gene , called " alleles ," which are passed down from parent to offspring. (amboss.com)
The NF2 gene is a tumour suppressor on chromosome 22. (bmj.com)
In 1986, the NF2 gene was mapped to chromosome 22, and in 1993, two groups independently isolated the gene and named its encoding protein merlin or schwannomin. (bmj.com)
The H19 gene maps to the distal segment of mouse chromosome 7, in a region that is parentally imprinted 5 , a process by which genes are differentially expressed on the maternal and paternal chromosomes. (princeton.edu)
Comparison of our mouse exon-skipping events to previously detected human exon-skipping events on chromosome 22 by Hide et al.2001, has revealed that mouse and human exon-skipping events were never observed together within an orthologous gene-pair. (uwc.ac.za)
Although the transcript identity between mouse and human orthologous transcripts were high (greater than 80% sequence identity), the exon order in these gene-pairs may be different between mouse and human orthologous genes. (uwc.ac.za)
Our conclusion that the mouse exon-skipping frequency may be lower than the human estimate remains to be tested with a larger mouse multi-exon gene set. (uwc.ac.za)
Double minute chromosomes (dmins) are a form of gene amplification presenting as small spherical paired chromatin bodies. (hindawi.com)
The current study attempts to demonstrate the existence of double minute chromosomes via FLT3 gene amplification in a patient diagnosed with chronic myelomonocytic leukemia (CMML). (hindawi.com)
Double minute chromosomes (dmins) are cytogenetic indicators of extrachromosomal gene amplification which usually act as small spherical paired chromatin particles [ 1 ]. (hindawi.com)
Presently, it is regarded as that MSs play a significant role in keeping genomic balance and regulating gene manifestation. (mycareerpeer.com)
gene is mapped on the wheat chromosome 5B, but, neither obtaining a physical marker nor microdissec-, tion of this chromosomal region gave practical results, [56]. (centrocardiobogota.com)
Autosomal dominant reticuloendothelial iron overload associated with a 3-base pair deletion in the ferroportin 1 gene (SLC11A3). (medlineplus.gov)
β-thalassemia results from numerous mutations or rarely deletions of the β globin gene on chromosome 11. (scirp.org)
Sickle cell disease ( SCD ) is considered as one of the commonest gene disorders of human beings. (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)
We report here a functionally annotated human gene index placed directly on the genome. (biomedcentral.com)
The human being FAK (also called PTK2, protein tyrosine kinase 2) gene continues to be mapped to chromosome 8 (15, 16). (cahrr.org)
The gene Snr1 coding series consists of 34 exons, and genomic series spans 230 kb (18). (cahrr.org)
Most, if not all, cases of WS1 are caused by mutations in the PAX3 gene located on chromosome band 2q35. (medscape.com)
Mutations in the MITF gene, located on chromosome band 3p14.1-p12.3, cause some cases of WS2. (medscape.com)
Most phenotypic manifestations in this syndrome reflect a contiguous gene syndrome, leading to a phenotypic map of chromosome arm 4p. (medscape.com)

Not all chromosomes are equally represented in sSMCs: ~65% of all sSMCs are copies of parts of chromosome 15 while only 7% are copies of parts of one of the five acrocentric chromosomes viz. (wikipedia.org)
Human pangenome graph of the five acrocentric chromosomes with lines representing sequences with few variations and loops representing sequences with duplications and inversions. (stowers.org)

1 Division of Human Genetics and Molecular Biology, The Children's Hospital of Philadelphia and The University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA. (nih.gov)
It is here suggested that the word "cytogenomics" should rather be used with the goal to paraphrase a new field of research in genomics and diagnostics in human genetics, with an integrative and comprehensive view. (frontiersin.org)
Human genetics is the study of the human genome and the transmission of genes from one generation to the next. (amboss.com)
Human molecular genetics. (wustl.edu)
One such report appeared on January 26, 2001 on the, Genetics, Inc. regulating chromosome pairing in polyploid plants. (centrocardiobogota.com)
Yet, to uncover what underlies our individuality, along with our similarities, a comprehensive understanding of human genetics requires a comparative approach from diverse datasets. (stowers.org)

13 The sequence reads were mapped onto the human reference genome, assembly GRCh37/hg19, with decoy sequences (hs37d5) and an average sequencing coverage of 32.4× for full-length autosomal chromosomes. (nature.com)
Two decades ago, the Human Genome Project (HGP) announced its initial results - the genome sequence and genetic map of the human body. (huawei.com)
60,000 to 100,000 human genomes are distributed in 23 pairs of chromosomes in the nucleus and approximately three billion base pairs, making the scale to sequence and analyze at genome level coding incredibly difficult. (huawei.com)
Most of the unread genome just belonged to centromeric regions, these are special sections of chromosomes that are necessary for cell division, and they usually consist of tandem repeating DNA sequence units. (vechnayamolodost.ru)
According to an approximate estimate, the version of the human nuclear genome, which has been constantly replenished and improved since 2001, did not contain about 8% of the genomic DNA sequence. (vechnayamolodost.ru)
Since 2001, the composition of the genome has been updated several times, most recently in 2019?Yes, but there were still pieces of genomic DNA sequences that could not be "stuck" into the whole sequence, into the contig. (vechnayamolodost.ru)
Almost all of these predicting tools are based on features derived solely from the genomic sequence. (frontiersin.org)
It lacks a common open reading frame in the 2.5-kilobase RNA, but has considerable nucleotide sequence similarity between the genes of rodents and humans 2,3 . (princeton.edu)
These processes have left footprints in the genomic sequence that can be detected by bioinformatic methods and may help to interpret receptor function in the light of a given species in its environment. (springer.com)
In 1986 Nobel laureate Renato Dulbecco laid down the gauntlet to the scientific community to sequence the complete human genome. (learner.org)
Dulbecco also argued that such a project should be "an international undertaking, because the sequence of the human DNA is the reality of the species, and everything that happens in the world depends upon those sequences. (learner.org)
The capstone, of course, was the completion of the human genome sequence. (learner.org)
In 2001 two rival teams jointly announced the completion of a draft sequence of the entire human genome, consisting of more than three billion nucleotides. (learner.org)
Having the human genome sequence is similar to having all the pages of an instruction manual needed to make the human body. (nih.gov)
The collaborative study focused on 44 targets, which together cover about 1 percent of the human genome sequence, or about 30 million DNA base pairs. (nih.gov)
The sequence of the human nuclear genome has been completed in draft form by an international public consortium consisting of 16 sequencing centers and associated computational facilities [ 1 ]. (biomedcentral.com)
As of late 2000, the public human sequence was primarily based on approximately 24,000 accessioned bacterial artificial chromosome (BAC) clones covering 97% of the euchromatic portion of the genome [ 6 ]. (biomedcentral.com)
Thirty percent of the genome is in finished form, including the entire sequence of chromosomes 21 and 22 [ 7 ]. (biomedcentral.com)
The current coverage is, however, sufficient for the Human Genome Project to enter a new phase, in which the entire sequence can be analyzed to identify genes, regulatory regions and other genomic elements and structures. (biomedcentral.com)
Public attention surrounding completion of the draft human sequence has fostered the impression that we are entering a 'post-genomic' era, and that description of genes and their functions is straightforward. (biomedcentral.com)

Telomeres are protective DNA structures that are located at the end of chromosomes, and proper telomere maintenance is indispensable for chromosomal integrity and overall genomic stability. (oncotarget.com)
These assemblies revealed patterns of genetic variation across chromosome regions which were previously inaccessible, letting us answer a longstanding question about the most common kind of chromosomal abnormality in humans. (stowers.org)
Robertsonian translocations are the most common type of chromosomal fusion in the human population, occurring in one in 1,000 individuals, and contribute to infertility and genomic abnormalities like those that cause Down syndrome. (stowers.org)
[ 1 ] They described a child with midline fusion defects, and subsequent cytogenetic studies revealed a chromosomal deletion of the short arm of chromosome 4. (medscape.com)

Human cells typically have 22 pairs of autosomal chromosomes and one pair of sex chromosomes. (wikipedia.org)
In order to trace the origins and migratory patterns that may have led to the genetic isolation and autosomal clustering in some of these communities we analyzed Y-chromosome STR and SNP sample data from 6327 individuals, in addition to whole genome autosomal sample data from 609 individuals, from Mount Lebanon and other surrounding communities. (nature.com)

New research published in Nature on May 10, 2023, assembled 94 human genomes to investigate natural genetic variation between humans. (stowers.org)

Main factors contributing towards the low detection of mouse exon-skipping events include the lack of mouse transcripts matching to mouse genomic sequences and the under-prediction of mouse exons. (uwc.ac.za)
The capture of mouse exon-skipping events may increase as the quality and quantity of mouse genomic and transcript sequences improves. (uwc.ac.za)
The authors termed these "pseudohomologous" regions, to indicate that although they occur on different chromosomes, during meiotic recombination, they exchange sequences with other members of the acrocentric chromosome community as if they were homologs, or true pairs. (stowers.org)
This could have significant implications for efforts to identify the DNA sequences involved in many human diseases. (nih.gov)

These factors resulted in a large number (112/269) of mouse transcripts lacking matches to mouse genomic contigs and nearly half (12/25) of the mouse multi-exon genes, which have matching Ensembl transcript identifiers, have under-predicted exons. (uwc.ac.za)

Cells carrying sSMCs that contain a non-duplicated fragment of a chromosome have one extra copy of the genetic material and are termed trisomic. (wikipedia.org)
Interestingly, my very first scientific work, my thesis, was devoted to cloning and sequencing the first fragment of a chromosome containing these alpha-like repeats of DNA centromeres. (vechnayamolodost.ru)

To make a reference panel of genomic variation for the Japanese population, we sequenced whole genomes of 1,070 cohort participants, and detected genomic variants including SNVs, indels and structural variants. (nature.com)
Different variants of FISH can be used to retrieve information on genomes from (almost) base pair to whole genomic level, as besides only second and third generation sequencing approaches can do. (frontiersin.org)
For the genomic information, the researchers ran single nucleotide polymorphisms (SNP) microarray that interrogated 4,327,108 genetic variants selected from the International HapMap and 1,000 Genomes Projects and targeted genetic variation down to 1% minor allele frequency (MAF). (news-medical.net)
The authors assembled nearly 100 complete human genomes selected from diverse geographies to enable us to understand human-to-human variations," said co-author and Investigator Jennifer Gerton, Ph.D. from the Stowers Institute for Medical Research . (stowers.org)

The increased loss of heterozygosity (LOH) can be characterized by the increased loss of a standard allele from an area of 1 chromosome of the pair, that allows a faulty allele for the homologous chromosome to trigger medical manifestations. (mycareerpeer.com)

However, when compared to a higher estimate (52/347) of exon skipping in human genes for chromosome 22 produced under similar conditions by Hide et al.2001, it is possible that our mouse exon-skipping frequency may be lower than the human frequency. (uwc.ac.za)

Fast forward to 2021, and West China Hospital (WCH) of Sichuan University made a breakthrough in streamlining human whole genome sequencing (hWGS). (huawei.com)

Newer molecular techniques such as fluorescence in situ hybridization, next generation sequencing, comparative genomic hybridization, and highly specialized cytogenetic G banding analyses are required to study it. (wikipedia.org)
[ 2 ] This technique has evolved throughout the years and is now largely performed by biopsy of the blastocyst trophectoderm cells with analysis using techniques such as next-generation sequencing (NGS) and comparative genomic hybridization (CGH) to test for aneuploidy. (medscape.com)
Array comparative genomic hybridization (CGH) was performed to detect copy number variations on a genome-wide scale, and quantitative real-time polymerase chain reaction (qPCR) assays were designed to validate the identified copy number variation in the index and other family members.ResultsNo mutations were found in genes or loci linked to isolated SHFM. (ox.ac.uk)
Comparative genomic hybridisation (CGH) was used to screen 76 vestibular schwannomas from 76 patients (66 sporadic and 10 NF2 related) to identify other chromosome regions that may harbour genes involved in the tumorigenesis. (bmj.com)
Routine G-banded karyotype, array-based comparative genomic hybridization, and fluorescence in situ hybridization analyses were used to characterize the cytogenetic abnormality in the patient's bone marrow. (hindawi.com)
This case study reports a rare double minute chromosome via FLT3 amplification in CMML by using array-based comparative genomic hybridization and fluorescence in situ hybridization analyses. (hindawi.com)
Array comparative genomic hybridization (CGH) was performed following the standard protocol provided by Agilent Technologies (Agilent Technologies, Santa Clara, CA, United States). (hindawi.com)

One special type of plasmid used for genome sequencing is a bacterial artificial chromosome (BAC) , which can contain DNA fragments of about 150 kb. (learner.org)

Here especially highlighted variations of FISH are molecular combing, chromosome orientation-FISH (CO-FISH), telomere-FISH, parental origin determination FISH (POD-FISH), FISH to resolve the nuclear architecture, multicolor-FISH (mFISH) approaches, among other applied in chromoanagenesis studies, Comet-FISH, and CRISPR-mediated FISH-applications. (frontiersin.org)
Molecular and functional mapping of the piebald deletion complex on mouse chromosome 14. (jax.org)

RESULTS: We identified 14 individuals from 13 unrelated families with (de novo) missense variants in RNF213 clustering within or around the RING domain. (bvsalud.org)

Cooper H, Hirschhorn K. Apparent deletion of short arms of one chromosome (4 or 5) in a child with defects of midline fusion. (medscape.com)
Deletion of short arms of chromosome 4-5 in a child with defects of midline fusion. (medscape.com)
Wolf-Hirschhorn syndrome results from the deletion of the distal short arm of chromosome 4. (medscape.com)
A large deletion several megabases (Mb) in length, easily detected using conventional chromosome analysis, is usually associated with severe phenotypic expression, including multiple malformations. (medscape.com)
Factors involved in prediction of prognosis include the extent of the deletion, the occurrence of complex chromosome anomalies, and the severity of seizures. (medscape.com)

It contains copies of parts of one or more normal chromosomes and like normal chromosomes is located in the cell's nucleus, is replicated and distributed into each daughter cell during cell division, and typically has genes which may be expressed. (wikipedia.org)
Germ cells only carry one-half of a somatic cell's chromosomes . (amboss.com)

A genomic library was prepared from the R4 4-1 DNA, and a mouse clone was isolated from the library, which-with the help of somatic cell hybrids-could be mapped to the MMU17. (psu.edu)
Somatic genomic aberrations occur within the context of an individual's germline genome, which can vary across millions of polymorphic sites. (stanford.edu)
Prostate Cancer Transcriptomic Regulation by the Interplay of Germline Risk Alleles, Somatic Mutations, and 3D Genomic Architecture. (stanford.edu)

Our hypothesis contradicts with a previous study by Brett et al.2002, in which the authors claim that mouse and human alternative splicing is comparable. (uwc.ac.za)
However, the mouse exon-skipping frequency may represent the highest estimate that can be obtained given that the current number (87) of mouse genes orthologous to chromosome 22 in Ensembl (v1 30th Jan. 2002) does not deviate significantly from our total number (72) of mouse multi-exon genes. (uwc.ac.za)

17p13.3 genomic rearrangement in a Chinese family with split-hand/foot malformation with long bone deficiency: report of a complicated duplication with marked variation in phenotype. (ox.ac.uk)
Given the incomplete penetrance in SHFLD, those two carriers were regarded as non-penetrant, which suggested that the genomic rearrangement was co-segregated with malformation in this family.ConclusionsThe present study reports an additional SHFLD family case with 17p13.3 genomic rearrangement. (ox.ac.uk)
To our knowledge, the 966 kb genomic rearrangement is larger in size than any previously reported SHFLD-associated 17p13.3 duplication, and the present family shows marked phenotypic variability with two asymptomatic carriers and one patient with an extremely severe phenotype. (ox.ac.uk)
This rare case provides the opportunity to identify underlying genotype-phenotype correlations between SHFLD and 17p13.3 genomic rearrangement. (ox.ac.uk)

The most complete human genomeRecently, an article was published in Science: The Telomere-to-telomere (T2T) consortium published the full version of the human genome. (vechnayamolodost.ru)
Microsatellites (MSs) are ubiquitous in the human being genome and so are mostly situated in the non-coding parts of genes, as well as the proximal telomere parts of chromosomes. (mycareerpeer.com)

Centromeres in all chromosomes were considered homogeneous, consisting of identical repeats. (vechnayamolodost.ru)
Fluorescent image of chromosomes (blue) and centromeres (cyan), illustrating a Robertsonian translocation between chromosomes 14 and 21 (red). (stowers.org)

Other changes in chromosome 4 can involve a ring structure or translocation. (medscape.com)

World-wide, small supernumerary marker chromosomes occur in ~4.2 per 10,000 individuals. (wikipedia.org)
Some genetic diseases, such as haemophilia, are carried on the X-chromosome (these X-linked disorders occur mainly in men). (who.int)

NHGRI Grantee Michael Eisen from Lawrence Berkeley National Laboratory received the Presidential Early Career Award for Scientists and Engineers (PECASE) on September 9, 2004, for his pioneering work in developing novel computational methods and tools to identify patterns in genomic data. (genome.gov)

Mediates attachment of the chromosome to the meiotic or mitotic spindle . (amboss.com)

This process, called recombination, where pairs of homologous chromosomes-one paternal and one maternal-break, and equal segments are swapped, increases genetic diversity in offspring because the chromosomes at the end of meiosis differ both from the parent and from each other. (stowers.org)

the pair of sex chromosomes are identified as the X and Y chromosomes with women's cells bearing two X chromosomes and men's cells bearing one X and one (male sex-determining) Y chromosome. (wikipedia.org)
The main part deals with examples of modern FISH-applications, highlighting unique possibilities of the approach, like the possibility to study individual cells and even individual chromosomes. (frontiersin.org)
Human cells contain 22 pairs of homologous autosomes. (amboss.com)
Using this system, the researchers showed that they could deliver genes as long as 36,000 DNA base pairs to several types of human cells, as well as to liver cells in mice. (sflorg.com)
In this study, the researchers showed that they could use PASTE to insert genes into several types of human cells, including liver cells, T cells, and lymphoblasts (immature white blood cells). (sflorg.com)
FLT3 (FMS-related tyrosine kinase 3) located on chromosome 13q12.2 encodes a receptor tyrosine kinase (RTK) that activates the Ras and PI3 kinase pathway leading to the increased proliferation and inhibition of apoptosis in hemopoietic progenitor cells [ 7 ]. (hindawi.com)
The quest to understand the workings of human cells will not be over until we understand how this genetic blueprint is used to produce a particular set of proteins - the proteome - for each type of cell and how these proteins control the physiology of the cell. (learner.org)
In their review " Natural and Adaptive Immunity to Cancer ", Vesely and colleagues draw from recent mouse models of cancer and human clinical data to describe how cells, effector molecules, and pathways of the immune system act to suppress and control tumor cells. (massgenomics.org)
We had been the 1st group to isolate human being FAK cDNA from the principal sarcoma cells and found improved FAKmRNA in tumor examples compared with regular tissue examples (2). (cahrr.org)

The two homologous chromosomes contain identical alleles at a given locus . (amboss.com)
The two homologous chromosomes contain different alleles at a given locus . (amboss.com)

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 cytogenetic abnormalities were described according to the International System for Human Cytogenetic Nomenclature (ISCN). (hindawi.com)

and PGTsr, which involves specifically screening for a structural rearrangment of chromosomes such as balanced translocations. (medscape.com)
For the first time, analysis of assemblies from the Human Pangenome Reference Consortium reveals how and when specific translocations-a piece of one chromosome breaks off and attaches or fuses to another-called Robertsonian translocations, can form. (stowers.org)

Several alternative splicing surveys have confirmed the frequent occurrence of exon skipping in human genes. (uwc.ac.za)
Recent improvements in mouse genome sequencing have permitted the current study to explore the occurrence of exon skipping in mouse genes orthologous to human genes on chromosome 22. (uwc.ac.za)
A low number (5/72 multi-exon genes) of mouse exon-skipped genes were captured through alignments of mouse ESTs to mouse genomic contigs. (uwc.ac.za)
The low frequency of mouse exon skipping on chromosome 22 cannot be extrapolated to represent a genome-wide estimate due to the small number of observed mouse exon-skipping events. (uwc.ac.za)

G banding analyses of sSMCs are commonly used to identify the chromosomes from which they were derived, the arms of these chromosomes ("p" for short arm, "q" for long arm) they contain, and the parts of these chromosomes' arms they have as defined by their G band contents. (wikipedia.org)
Genomic analyses clustered only one couple together per copy number variation (CNVs). (news-medical.net)

In this project, the genomic DNA of 1,070 subjects obtained from peripheral blood samples was subjected to paired-end sequencing using the Illumina HiSeq 2500 platform. (nature.com)
Genomic DNA was purified from the peripheral blood samples using the Maxwell RSC Blood DNA kit (Promega) as per the manufacturer's recommendations. (hindawi.com)

Due to the accelerated rate of divergence of genes after duplication events [ 2 - 5 ], it is generally understood that a pair of paralogous genes are likely to have diverged more than a pair of orthologous genes. (biomedcentral.com)

We compare genomic models and observe that our protein model outperforms, whereas a unified model improves on both. (frontiersin.org)
The valuable source of large-scale genomic information initiated attempts to identify the origin(s) of G protein-coupled receptors (GPCR), count and categorize those genes, and follow their evolutionary history. (springer.com)
Humans have 23 pairs of chromosomes -the DNA/protein complex with two arms extending from the centromere, a region approximately at the center of the arms where duplicated chromosomes are held together prior to cell division. (stowers.org)
The protein-coding component of these genes makes up just a small fraction of the human genome - 1.5 percent to 2 percent. (nih.gov)

Here we model occult preneoplasia by biallelic inactivation of TP53, a common early event in gastric cancer, in human gastric organoids. (stanford.edu)
For example, individuals with a high burden of germline-derived epitopes in ERBB2, encoding human epidermal growth factor receptor 2 (HER2), are significantly less likely to develop HER2-positive breast cancer compared to other subtypes. (stanford.edu)
Prostate cancer is one of the most heritable human cancers. (stanford.edu)
Genomic amplification of FLT3 has been reported in solid tumors including colorectal cancer, breast cancer, and gastric cancer [ 9 ]. (hindawi.com)
Thus, about 100 human "twin genes", were found in the Arabidopsis genome, including, those responsible for such severe diseases as cystic, ﬁbrosis and breast cancer [50]. (centrocardiobogota.com)

A catalogue of genomic variants from WGS and estimates of variant frequencies for each population are needed to provide a foundation for genomic medicine. (nature.com)

http://ijgvd.megabank.tohoku.ac.jp/ ) provides genomic variation data detected by whole-genome sequencing (WGS) of Japanese individuals. (nature.com)

There is a rather complex structure there, and they occupy many thousands of nucleotides on chromosomes. (vechnayamolodost.ru)
The human genome, containing more than three billion nucleotides, is vast. (learner.org)

Of particular biological significance, the short arms of acrocentric chromosomes contain the genes required for the synthesis of ribosomes and ribosomal RNA. (stowers.org)
Carried out by 35 groups from 80 organizations around the world, the research served as a pilot to test the feasibility of a full-scale initiative to produce a comprehensive catalog of all components of the human genome crucial for biological function. (nih.gov)

Epub 2005 Jun 13. (medlineplus.gov)

Although some scientists expected to find at least 100,000 genes coding for proteins, only about 30,000-35,000 of such genes appear to be in the human genome. (learner.org)

We had been the 1st group to clone and characterize the human being FAK promoter, regulating FAK manifestation (13). (cahrr.org)

And when we started mapping these active promoter genes, we found that in addition to thousands of signals at sites of known genes, many signals are mapped to different genomic sites where no genes are marked by the reference genome. (vechnayamolodost.ru)

The earliest events during human tumour initiation, although poorly characterized, may hold clues to malignancy detection and prevention1. (stanford.edu)

For this study, the researchers focused on serine integrases, which can insert huge chunks of DNA, as large as 50,000 base pairs. (sflorg.com)
This allows them to target any site in the genome for insertion of the landing site, which contains 46 DNA base pairs. (sflorg.com)

Syracuse University will dedicate its new Life Sciences Complex with a series of events on Nov. 6 and 7, including a keynote address by one of the nation's foremost scientists-J. Craig Venter, a pioneer in decoding the human genome. (syr.edu)

The similarity between mouse, rat and human is the result of a long journey of shared evolution and it is the main reason for the success of rat and mouse as model organisms. (biomedcentral.com)
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)
For example, recent work has shown that in human and mouse there is a strong connection between function and inparalogs, the paralogs that were created since the speciation event separating the human and mouse lineages. (biomedcentral.com)
The quality of the current mouse genomic data is higher than the one utilized in this study. (uwc.ac.za)
The phenotype of the L1 mutant mouse indicates that it is a potentially valuable model for the human CRASH syndrome. (jneurosci.org)
Lately, mouse promoter continues to be cloned which is homologous towards the human being promoter extremely, and included the same binding sites (18). (cahrr.org)

[ 4 ] The 6 genes involved in WS are PAX3 (encoding the paired box 3 transcription factor), MITF (microphthalmia-associated transcription factor), EDN3 (endothelin 3), EDNRB (endothelin receptor type B), SOX10 (encoding the Sry bOX10 transcription factor), and SNAI2 (snail homolog 2), with different frequencies. (medscape.com)

Once found, this unique set of humans could facilitate studying how genomics, epigenomics, and microbiomics contribute to a resemblance between humans. (news-medical.net)

The targets were strategically selected to provide a representative cross section of the entire human genome. (nih.gov)

or each of these agents, carcinogenicity in rats and/or mice, els, differences in exposure con- there was sufficient evidence of car- for example for the liver (aflatoxins, ditions between studies in animals cinogenicity from studies in rats and/ trichloroethylene [TCE], and vinyl and in humans, or limitations in Part 1 · Chapter 1. (who.int)

The 230,000-square-foot facility positions SU at the forefront of the revolutionary changes that are taking place across the nation in teaching and research in the life sciences, sparked by the unraveling of the human genetic code. (syr.edu)

Men of European descent with higher genetic risk were diagnosed earlier, had less genomic instability, and fewer driver genes mutated. (stanford.edu)

Seven of the 13 White look-alike doubles did not cluster genetically, indicating alternative purposes for shared genetic variation between look-alike pairs. (news-medical.net)

The primary promoter consists of 600 foundation pairs and contains many transcription binding sites, such as for example AP-1, AP-2, SP-1, PU.1, GCF, TCF-1, EGR-1, NF-kappa B and p53(13). (cahrr.org)
Oddly enough, we discovered two transcription binding sites for p53 in the FAK promoter, and discovered that p53 can stop FAK promoter activity (13). (cahrr.org)

Anatomy62

Organisms7

Diseases22

Chemicals and Drugs29

Analytical, Diagnostic and Therapeutic Techniques and Equipment28

Psychiatry and Psychology1

Phenomena and Processes178

Disciplines and Occupations3

Technology, Industry, Agriculture2

Information Science7

Health Care1

Gene35

Five acrocentric chromosomes2

Genetics6

Sequence20

Chromosomal4

Autosomal2

20231

Sequences4

Exons1

Fragment of a chromosome2

Genomes4

Homologous chromosome1

20011

20211

Comparative7

Bacterial artificial1

Molecular2

Novo1

Deletion5

Cell's2

Somatic3

20022

Rearrangement4

Telomere2

Centromeres2

Translocation1

Occur2

Methods1

Meiotic1

Paternal1

Cells9

Alleles2

Chromatid1

Cytogenetic1

Translocations2

Exon4

Analyses2

Peripheral blood samples2

Orthologous1

Protein4

Cancer5

Variants1

Whole-genome1

Nucleotides2

Biological2

Epub1

Proteins1

Manifestation1

Reference genome1

Tumour1

Base pairs2

Decoding the human genome1

Mouse6

Genes involved1

Genomics1

Entire human genome1

Mice1

Life Sciences1

Fewer1

Genetic variation1

Promoter2