Occur gene rearrangement. Medical search. Frequent questions

SCID results from mutations in any of more than 15 known genes. (medscape.com)
Random mutations occur, but these are very rare, about one in a billion or less. (i-sis.org.uk)
Genes and genomes are stable, and except for rare, random mutations, are passed on unchanged to the next generation. (i-sis.org.uk)
This means that gene mutations and chromosome abnormalities in cells occur sporadically (by chance) and are not inherited from a parent. (texaschildrens.org)
Using previous knowledge about the specific mutational patterns caused by exposures to carcinogens such as tobacco smoke or UV light, the researchers could estimate what proportion of driving mutations were caused by carcinogens and what proportion arose from accidental alterations in DNA that occur during normal cell division. (scientificamerican.com)
There have been a lot of sidetracks taken over the years," says cancer researcher and oncologist Rameen Beroukhim of the Dana-Farber Cancer Institute, who was not involved with the new study, because people assumed that frequently mutated genes in a given cancer type must be contributing to the development of the cancer-only to find out that those mutations were just passengers. (scientificamerican.com)
One caveat of the study is that the researchers focused only on mutations in single letters, or nucleotides, of DNA, not large rearrangements of chromosomes or increases in copies of a gene that frequently occur in cells as they become cancerous. (scientificamerican.com)
The training set was composed of difficult cases, for example, insertions and/or deletions of various sizes, large-scale rearrangements and, obviously, mutations occurring in homopolymer regions. (nih.gov)
At least 85 mutations in the FUS gene have been found to cause amyotrophic lateral sclerosis (ALS), a condition characterized by progressive muscle weakness, a loss of muscle mass, and an inability to control movement. (medlineplus.gov)
People with ALS caused by mutations in the FUS gene tend to develop the disease at a younger age and have a decreased life expectancy compared with individuals who have sporadic ALS or ALS caused by mutations in other genes. (medlineplus.gov)
Rarely, people with ALS caused by FUS gene mutations also develop a condition called frontotemporal dementia (FTD), which is a progressive brain disorder that affects personality, behavior, and language. (medlineplus.gov)
It is unclear why some people with FUS gene mutations develop FTD and others do not. (medlineplus.gov)
Specific mutations involving the FUS gene are involved in several types of cancer. (medlineplus.gov)
Most commonly, mutations in this gene are found in tumors called soft tissue sarcomas, which develop in bones or in soft tissues such as nerves or cartilage. (medlineplus.gov)
FUS gene mutations have also been found in myxoid liposarcomas, which occur in fatty tissues of the body, and in cancer of the blood-forming cells in the bone marrow called acute myeloid leukemia (AML). (medlineplus.gov)
ALS mutations in TLS/FUS disrupt target gene expression. (medlineplus.gov)
Familial Hypercholesterolemia results from mutations in the LDL receptor, ApoB, PCSK9, and ApoE genes. (hindawi.com)
Those harbouring mutations in the above genes can be treated to lower the cholesterol levels, prevent early CVD, and avoid death. (hindawi.com)
Another hallmark of the gene regulatory landscape is chromatin accessibility, which is regulated by epigenetic pathways and can be dysregulated as a result of both chromosomal rearrangements and mutations in the noncoding genome and which have been unstudied in liposarcoma. (curesarcoma.org)
This is vital because there is a growing array of targeted drugs, both approved by the Food and Drug Administration (FDA) and experimental, that are capable of honing in on specific gene mutations to stop their detrimental activity. (curetoday.com)
There are targeted drugs designed to stop the dangerous activity of a number of rare, cancer-causing mutations, including rearrangements of the ROS1, ALK, RET and TRK genes and mutations of the MET or EGFR genes. (curetoday.com)
But a new closer look at genomes in prostate cancer by an international team of researchers reveals that, in fact, genetic mutations occur in abrupt, periodic bursts, causing complex, large scale reshuffling of DNA driving the development of prostate cancer. (enewspf.com)
The researchers also report that future targeted cancer therapy may depend on identifying complex sets of genetic mutations and rearrangements in each patient. (enewspf.com)
Published in the New England Journal of Medicine in 2015, we found a surprisingly high percentage of pediatric cancer patients carry germline mutations in known cancer predisposition genes. (stjude.org)
Antimicrobial resistance occurs through different mechanisms, which include spontaneous (natural) genetic mutations and horizontal transfer of resistant genes through deoxyribonucleic acid (DNA). (who.int)

Xq28 appears to be an unstable region of the human genome and genomic rearrangements are recognised as major causes of two single gene defects, haemophilia A and incontinentia pigmenti, which map within Xq28. (bmj.com)
In cancer, genomic rearrangements can create fusion genes that either combine protein-coding sequences from two different partner genes or place one gene under the control of the promoter of another gene. (biomedcentral.com)
Consequently, little is known about how gene expression changes in response to genomic rearrangements in plastids. (biomedcentral.com)
Phylogenetics and paleogenomics show genomic rearrangements across legumes and suggest a major role for repetitive elements in pea genome evolution. (pacb.com)
It has also long been recognized that WDLPS and DDLPS are characterized by complex genomic rearrangements. (curesarcoma.org)
Chromothripsis is a mutational phenomenon characterized by massive, clustered genomic rearrangements that occurs in cancer and other diseases. (lu.se)

From there, he looks at DNA's role in evolution, and its organisation into chromosomes and genes, which in his view behave selfishly. (wikipedia.org)
We describe the clinical and molecular features of a child who presented with a large abdominal mass, AML, and a new CK, involving chromosomes 11, 16, and 19 leading to a KMT2A-MLLT1 fusion and 2 extra copies of the ELL gene, thus resulting in the concurrent overexpression of MLLT1 and ELL. (cancerindex.org)
The construction of BAC-based physical maps of individual chromosomes reduces the complexity of this allohexaploid genome, enables elucidation of gene space and evolutionary relationships, provides tools for map-based cloning, and serves as a framework for reference sequencing efforts. (biomedcentral.com)
The genetic changes associated with these cancers are rearrangements (translocations) of genetic material between chromosome 16 (where the FUS gene is located) and other chromosomes. (medlineplus.gov)
When genetics was still a niche discipline, a young American biologist named Barbara McClintock, who was fascinated by genes and chromosomes, set out to study them in maize. (embl.org)
Instead, Barbara observed various mechanisms that enable genes to be exchanged between chromosomes. (embl.org)
In 1931, working with graduate student Harriet Creighton, Barbara managed to obtain the first experimental proof that genes are physically located on chromosomes. (embl.org)
At Cornell, and then at the University of Missouri and Cold Spring Harbor Laboratory, Barbara went on to study the characteristics of chromosomes and the position of genes on them. (embl.org)
Also, the analyses indicate that chromosomal rearrangements occurred independently within the distinct lineages of S . marmoratus complex, which resulted in the appearance of distinct karyotypic variants in a non-linear fashion related to diploid numbers and in the appearance of similar non-homologous chromosomes. (scielo.br)
Finally, the integration of both molecular cytogenetic and phylogenetic approaches allowed the determination of specific chromosomes possibly involved in rearrangements and a better understanding about the evolutionary processes involved in the differentiation of Synbranchus genus. (scielo.br)
Using yet newer techniques for detecting abnormal chromosomes (called spectral karyotyping), Rowley found a chromosomal rearrangement that characterizes one of the childhood leukemias, and her work continues. (laskerfoundation.org)

Chromosomal rearrangements involving ETS transcription factors, such as ERG and ETV1, occur frequently in prostate cancer. (harvard.edu)
26 27 In contrast, the chromosomal breakpoint in sBL and HIV-associated BL occurs most commonly in the class switch region, 28 but since both somatic hypermutation and class switching are events that are normally confined to GC B cells and GC centroblast markers are expressed on BL cells, the BL progenitor cells most likely arise from B cells subjected to chromosomal rearrangements in the GC. (bmj.com)
Chromosomal rearrangements of the human MLL/KMT2A gene are associated with infant, pediatric, adult and therapy-induced acute leukemias. (uzh.ch)
Although the clinical implications of chromosomal aberrations in liposarcomas are incompletely understood, in other malignancies complex chromosomal rearrangements have been shown to alter chromatin folding, architecture, and organization which in turn impact functional genomic processes and the tumor regulatory landscape through altered near- and long-range interactions. (curesarcoma.org)
We hypothesize that chromatin accessibility differ as a result of changes occurring in the noncoding genomes and complex chromosomal rearrangements in WDLPS and DDLPS and contribute to dysregulation of downstream gene regulatory networks. (curesarcoma.org)
The aims of the proposed study are to 1) characterize and determine differences in the chromatin accessibility landscapes of treatment naïve WDLPS and DDLPS and 2) understand the functional consequences of differences in the noncoding genomes and complex chromosomal rearrangements on chromatin accessibility and downstream gene regulatory networks in treatment-naive WDLPS and DDLPS. (curesarcoma.org)
The proposed study will be the first to describe the chromatin accessibility landscape of liposarcoma and to elucidate how differences in the noncoding genomes and complex chromosomal rearrangements between WDLPS and DDLPS histologies affect chromatin "openness," downstream gene regulatory networks, and ultimately disparate biologic subtype-specific behavior and prognosis. (curesarcoma.org)

The ordered rearrangement of gene regions by DNA recombination such as that which occurs normally during development. (harvard.edu)
The different organizations may be due to the presence of various genetic elements involved in cointegration, recombination, and rearrangements. (nofima.no)
The vast diversity of possible T-cell receptors (TCR) is generated by the random recombination of genes in the third complimentary determining regions (CDR3) within a TCR's α and β chains. (biorxiv.org)
In the recombination process of the β chain, loci of the variable (V), diversity (D), and joining (J) regions are randomly spliced together with non-templated insertions and deletions occurring between each junction, resulting in up to 10 11 possible sequences ( 3 , 4 ). (biorxiv.org)
Recombination of the TCRα chain includes only V and J gene segments, resulting in fewer possible rearrangements and making the TCRβ chain a more suitable target for identifying unique T cells, and thus the focus of this paper. (biorxiv.org)
Moreover, the breakpoint in the Ig gene to which MYC is transferred in eBL occurs at the V(D)J region, suggesting that translocation occurs during V(D)J recombination. (bmj.com)
To reduce the risk of analyzing cell line- pathway can be divided into distinct stages based on the specific features, we used several representative cell lines for recombination status of the Ig genes and on the expression each of four major stages in B cell development: pro-B, pre-B, pattern of surface markers and the presence of intracellular proteins [1- 6]. (lu.se)
if immediate recombination does not occur, these can manifest as some type of molecular, cellular, or organic system alteration. (cdc.gov)

A genetic rearrangement (translocation) involving chromosome 21 is associated with a type of blood cancer known as core binding factor acute myeloid leukemia (CBF-AML). (medlineplus.gov)
The translocation, written as t(8;21), fuses part of the RUNX1 gene from chromosome 21 with part of the RUNX1T1 gene (also known as ETO ) from chromosome 8. (medlineplus.gov)
The t(14;18) translocation (characteristic for follicular lymphoma but also common in other types) results in activation of the BCL-2 gene and suppression of apoptosis. (oncolink.org)
To investigate the possibility that a novel candidate gene for XLMR was disrupted at the X chromosome translocation breakpoint, we mapped the breakpoint using fluorescence in situ hybridisation (FISH). (bmj.com)
This showed that the four known genes involved in non-syndromic mental retardation in Xq28, FMR2 , SLC6A8 , MECP2 , and GDI1 , were not involved in the translocation. (bmj.com)
However, other mechanisms of disease causation have also been described where (1) a breakpoint disrupts or alters gene expression via a position effect 7 or (2) a cryptic deletion or duplication is identified at the translocation breakpoint. (bmj.com)
It has been known for many years that the fundamental transforming event in BL is the translocation of the MYC gene, and the events that bring about this translocation and those that allow cells to survive with the constitutive expression of MYC have been the subject of intense investigation. (bmj.com)
The hallmark of all BL tumours is the translocation between the MYC gene and one of the immunoglobulin (Ig) heavy or light chain loci. (bmj.com)
Genomic breakpoints within the MLL gene and the involved translocation partner genes (TPGs) were determined and 11 novel TPGs were identified. (uzh.ch)
During Pisum evolution, translocation and transposition differentially occurred across lineages. (pacb.com)
Rowley had identified the first "translocation" in cancer, providing clear evidence that the cause of CML could be related to the fact that by moving from one chromosome to another, the aberrant segment of chromosome 22 was no longer sitting next to genes that controlled its behavior. (laskerfoundation.org)
FAB M3) is a reciprocal translocation, t(15;17)(q22;q12), which serves to fuse the PML gene on chromosome 15 to the retinoic acid receptor alpha (RARA) gene on chromosome 17. (lu.se)
Two APL patients with simple variants of this translocation, t(3;15)(q21;q22) and t(X;15)(p11;q22), have previously been reported who lack cytogenetic involvement of chromosome 17, although their breakpoint positions on chromosome 15 still suggest the involvement of the PML gene. (lu.se)

The protein encoded by this gene belongs to the immunoglobulin superfamily and is expressed selectively at the early stages of B cell development, namely, in proB and early preB cells. (nih.gov)
Therapies for these disorders (eg, intravenous immunoglobulin [IVIG], bone marrow transplantation, gene therapy) are very costly and require highly advanced facilities. (medscape.com)
Immunoglobulin gene rearrangement begins with heavy-chain gene rearrangement followed by light-chain gene rearrangement. (medscape.com)
PARR improves diagnosis by amplifying genes for T-cell receptor gamma (TCRG) in the case of T cell phenotype or genes for immunoglobulin heavy change (IGH) in case of B cell phenotype. (vin.com)

VPREB1 deletions occur independent of lambda light chain rearrangement in childhood acute lymphoblastic leukemia. (nih.gov)
The J segments flanking MYC translocated breakpoints typically exhibit deletions and/or additions of base pairs characteristic of normal Ig V(D)J segment rearrangement. (bmj.com)
Human chromosomal fragile sites have been correlated with the chromosomal deletions and gene rearrangements found in many cancers. (virginia.edu)

Thus, a precise characterization of KMT2A-r and the fusion partner genes, especially in CKs, is of interest for managing AML. (cancerindex.org)
This can lead to the formation of a chimeric gene that combines functional domains from both fusion partner genes, or to a promoter swapping event, where the promoter of one gene is replaced with another, leading to altered gene expression. (biomedcentral.com)

Subsequent differentiation allows for rear- analysis of a set of mouse B lineage cell lines rep- rangements of the Ig light-chain (IgL) genes that replace the resenting defined stages of B cell development us- surrogate light-chain genes on the surface of the B cell [8]. (lu.se)

Genes and genomes cannot be changed directly in response to the environment. (i-sis.org.uk)
Our understanding of plastid transcriptomes is limited to a few model plants whose plastid genomes (plastomes) have a highly conserved gene order. (biomedcentral.com)
Plastid genomes (plastomes) of land plants are highly conserved in their gene content and order. (biomedcentral.com)
Compared to other sequenced Leguminosae genomes, the pea genome shows intense gene dynamics, most likely associated with genome size expansion when the Fabeae diverged from its sister tribes. (pacb.com)
Whole exome sequencing has shown that mutation rates are modest in coding regions of WDLPS and DDLPS genomes, with few recurrently mutated genes across series and no significant differences between histologies to explain differences in subtype-specific behavior. (curesarcoma.org)

Less commonly, Down syndrome occurs when part of chromosome 21 becomes attached (translocated) to another chromosome during the formation of reproductive cells (eggs and sperm) or very early in fetal development. (medlineplus.gov)
Gene fusions are commonly detected in RNA sequencing (RNA-Seq) data in the form of chimeric fusion transcripts. (biomedcentral.com)
Clinically, ACC presents more commonly in women and has a bimodal distribution, occurring in the first and fifth decades of life. (cap.org)
Functionally related genes are commonly found in clusters and are likely co-transcribed as operons [ 10 ]. (biomedcentral.com)
BRCA1/2 genes are a good model, representative of the difficulties commonly encountered in diagnostic settings, which is why we believe our findings are of interest for the whole community, and the pipeline described can be adapted by any user of PGM for diagnostic purposes. (nih.gov)

Acquired characters are not inherited, as germline genes are not influenced by the environment. (i-sis.org.uk)
and (iv) genes harboring germline non-silent variants presumed to confer a risk of sporadic ALL. (haematologica.org)

Defects occurring at the CLP stage or those affecting processes common to B- and T-cell development result in combined immunodeficiency involving B, T, and NK cells (see Combined B-Cell and T-Cell Disorders ). (medscape.com)
During screening, we will identify single gene defects, monogenic abnormalities, and structural rearrangements and remove those embryos as candidates. (marketplace.org)

However, for patients with a KMT2A rearrangement (KMT2A-r), the prognosis appears to depend on the fusion partner gene rather than the karyotype structure. (cancerindex.org)

In-frame fusions that produce chimeric proteins often drive cancer development and progression via dysregulation of signaling pathways related to the fusion genes. (biomedcentral.com)
The lymphomagenesis in these mice derived from a reprogrammed T cell demonstrates the deleterious consequences of misregulation of the TCR rearrangement and signaling pathways and illustrates one case of cellular reprogramming where the identity of the cell of origin has profound consequences. (ca.gov)
By analyzing epigenomic and gene expression changes that occur in Alzheimer's disease, researchers identify cellular pathways that could become new drug targets. (scitechdaily.com)
This gene expression study, which was led by former MIT postdoc Hansruedi Mathys, graduate student Zhuyu (Verna) Peng, and former graduate student Carles Boix, also found that genetic pathways related to lipid metabolism were highly disrupted. (scitechdaily.com)

This rearrangement occurs in approximately 7 percent of acute myeloid leukemia cases in adults. (medlineplus.gov)
Mutational Analysis of the VPREB1 Gene of Pre-BCR Complex in a Cohort of Sporadic Pediatric Patients With B-Cell Acute Lymphoblastic Leukemia. (nih.gov)
ZNF384 rearrangement is the most frequent genetic lesion in adult PH-negative and Ph-like-negative B-other acute lymphoblastic leukemia. (harvard.edu)
Acute leukemia can occur over a short period of days to weeks. (texaschildrens.org)

Chromosome 21 likely contains 200 to 300 genes that provide instructions for making proteins. (medlineplus.gov)
As the proteins catalyze all the biochemical reactions in our body, the implication is that the genes ultimately control and determine all the characteristics of the organism. (i-sis.org.uk)
The FUS protein attaches (binds) to DNA and regulates an activity called transcription, which is the first step in the production of proteins from genes. (medlineplus.gov)
Trainees in my laboratory will gain knowledge about chromatin biology, DNA repair, and cancer-causing gene rearrangements, and will develop expertise in cell culture, molecular biology techniques for proteins and nucleic acids, cytogenetic analysis, and electron microscopy. (virginia.edu)
The drugs work by quieting proteins, or kinases, made by these defective genes, which sit on the outsides of cancer cells. (curetoday.com)

The total chromosomal content of a cell involves approximately 105 genes in a specialized macromolecule of deoxyribonucleic acid (DNA). (cdc.gov)

Among the most prominent, they found impairments in the expression of genes involved in mitochondrial function, synaptic signaling, and protein complexes needed to maintain the structural integrity of the genome. (scitechdaily.com)
In addition, using sequences of three mitochondrial genes, the phylogenetic relationships between every sample with a known karyotype were determined, which revealed significant nucleotide divergence among the karyomorphs. (scielo.br)

Here, we report that the RasGAP gene, RASAL2, functions as a tumor and metastasis suppressor in the MMTV mouse model of breast cancer. (harvard.edu)
We have tested it on matched RNA-Seq and WGS data for both tumors and cancer cell lines and show that it can be used to validate both new predicted gene fusions and experimentally validated fusion events. (biomedcentral.com)
In cancer, gene fusions occur frequently due to the genetic instability of cancer cells. (biomedcentral.com)
The cancer-specific nature of gene fusions has rendered them attractive targets for cancer therapy. (biomedcentral.com)
These new techniques enable scientists to target prevention and detection efforts at the specific genes that cause cancer. (alpenaregionalmedicalcenter.org)
A cancer cell's genes show several distinctive characteristics, which distinguish it from a normal cell. (alpenaregionalmedicalcenter.org)
Ongoing projects include examining the chromatin structure of cancer-specific fragile sites, and their involvement in DNA replication/cell cycle checkpoints, and investigating the mechanism of RET/PTC rearrangement. (virginia.edu)
NEW YORK-(ENEWSPF)-April 25, 2013 - Cancer is typically thought to develop after genes gradually mutate over time, finally overwhelming the ability of a cell to control growth. (enewspf.com)
In the April 25 issue of Cell, the scientists, led by researchers from Weill Cornell Medical College, the Broad Institute, Dana-Farber Cancer Institute and the University of Trento in Italy, dub this process "punctuated cancer evolution," akin to the theory of human evolution that states changes in a species occur in abrupt intervals. (enewspf.com)
We believe chromoplexy occurs in the majority of prostate cancers, and these DNA shuffling events appear to simultaneously inactivate genes that could help protect against cancer," says the study's co-lead investigator Dr. Mark Rubin , who is director of the recently-established Institute for Precision Medicine at Weill Cornell Medical College and NewYork-Presbyterian Hospital/Weill Cornell Medical Center. (enewspf.com)
Nowell, a tumor biologist in the pathology department at the University of Pennsylvania School of Medicine, was interested in the relationship between cancer and alterations in genes (although he had no proof there was one). (laskerfoundation.org)

About 70% of PWS cases occur when part of the father's chromosome 15 is missing. (choc.org)

The precise mechanism for cross-lineage rearrangement in lymphocytes is unclear. (vin.com)
Cell lines infected by HTLV-I express levels of TCR beta mRNA similar to PHA stimulated lymphocytes, suggesting that this gene is not transcriptionally activated as a result of infection by HTLV-I. Cloned T cells of known antigen specificity that are infected by HTLV-I in vitro show impairment of immune function, including loss of antigen-specific responsiveness and the acquisition of alloreactivity. (rupress.org)

Search the gene expression profiles from curated DataSets in the Gene Expression Omnibus (GEO) repository. (cancerindex.org)
We demonstrate that the expression of plastid coding genes is strongly functionally dependent among conifer species. (biomedcentral.com)
This finding indicates that plastomic rearrangement influences gene expression. (biomedcentral.com)
We also compared plastid gene expression levels among conifers and demonstrated a strong association between gene expression and plastomic rearrangements. (biomedcentral.com)
Furthermore, lymphomagenesis requires the expression of both prerearranged TCRalpha and TCRbeta genes, indicating a critical role for TCR signaling. (ca.gov)
A distinct ZmFCP1-FEA3 ligand-receptor combination, originally identified in maize, prevents WUS gene expression in the region below the OC (also called rib zone, RZ), thus confining WUS expression within the OC of meristems 6 . (nature.com)
The Human Cell Atlas relies, to a great extent, on the use of transcriptome sequencing to profile the gene expression of individual cells. (genengnews.com)
We developed a fast way of profiling tens of thousands of cells, where for each cell, we capture gene expression in an unbiased way," says Benjamin J. Hindson, Ph.D., CSO, president, and cofounder of 10x Genomics. (genengnews.com)
Cell Ranger is a set of analysis pipelines that processes Chromium single-cell 3′ RNA-Seq output to align reads, generate gene-cell matrices, and perform clustering and gene-expression analysis. (genengnews.com)
Using more than 2 million cells from more than 400 postmortem brain samples, the researchers analyzed how gene expression is disrupted as Alzheimer's progresses. (scitechdaily.com)
In the study led by Mathys, the researchers also compared gene expression patterns in people who showed cognitive impairments and those who did not, including some who remained sharp despite having some degree of amyloid buildup in the brain, a phenomenon known as cognitive resilience. (scitechdaily.com)
Configuration and expression of the T cell receptor beta chain gene in human T-lymphotrophic virus I-infected cells. (rupress.org)
We studied the configuration and expression of the gene encoding the beta chain of the T cell receptor (TCR beta) in cell lines and primary tumor cells infected by the human T cell leukemia/lymphoma (lymphotrophic) virus type I (HTLV-I). Most of the cell lines and all the primary tumor cells showed rearrangement of the TCR beta gene, and in each case the rearrangement was distinct. (rupress.org)
Levels of expression of the TCR beta gene at the mRNA level and surface expression of the T3 complex were also not significantly altered, suggesting that changes in immune function cannot be attributed to quantitative changes in the TCR molecule. (rupress.org)
Correct timing of gene expression as controlled by the epigenome is critical to produce a functioning organism. (carnivorousplants.org)
tures and gene expression patterns. (lu.se)
immature cell is then subjected to negative selection to delete grouped based on their previously defined pheno- self-reactive cells before it leaves the BM to enter peripheral typic features, and a gene expression pattern for lymphoid organs, where it becomes a mature B cell [9]. (lu.se)
the gene expression profile during B lymphoid differentiation. (lu.se)

This gene encodes the iota polypeptide chain that is associated with the Ig-mu chain to form a molecular complex which is expressed on the surface of pre-B cells. (nih.gov)
X-linked agammaglobulinemia (XLA), also known as Bruton agammaglobulinemia, results from a mutation of the BTK gene, which encodes the pre-B-cell receptor (Pre-BCR) and BCR. (medscape.com)
This gene encodes a protein with protease activity and is expressed in the placenta. (cancerindex.org)

Here we report on a combined analysis by molecular genetics and in situ hybridization of these two patients, in which we wanted to determine whether the PML gene has alternative fusion partners or whether cryptic rearrangement of the RARA locus has occurred instead. (lu.se)

Here, we provide a chromosome-specific view into the organization and evolution of the D genome of bread wheat, in comparison to one of its ancestors, revealing recent genome rearrangements. (biomedcentral.com)

Epigenetic balance ensures mechanistic control of MLL amplification and rearrangement. (harvard.edu)
Chromothripsis contributes to oncogene amplification and to inactivation of genes such as mismatch-repair-related genes. (lu.se)

The RUNX1-ETO fusion protein forms CBF and attaches to DNA, but instead of turning on genes that stimulate the development of blood cells, it turns those genes off. (medlineplus.gov)
These fusion genes can act as oncogenic drivers in tumor development and several fusions involving kinases have been successfully exploited as drug targets. (biomedcentral.com)
Fusion genes are created when two separate genes are merged as a result of a chromosomal rearrangement. (biomedcentral.com)
These translocations break chromosome 16 in the middle of the FUS gene and fuse it with another gene on a different chromosome, creating a fusion gene. (medlineplus.gov)
Fusion genes usually have partial function of both genes involved. (medlineplus.gov)
Here, using Next Generation Sequencing we identified a novel gene fusion event between DAXX and the kinesin motor protein, KIFC3, leading to the translation of a chimeric DAXX-KIFC3 fusion protein. (oncotarget.com)

Large-scale rearrangements were identified by two distinct analyses, that is, bioinformatics and fragment analysis with electrophoresis profile comparison. (nih.gov)

When this occurs, it is termed cross-lineage rearrangement and it has been documented in humans and canine lymphoid cancers. (vin.com)

If we are to define 'species' on the basis of an inability to produce children when bred with the mother stock, then we need evolutionary changes in genes that will (1) produce the same changes in both males and females and at the same time, (2) produce a large number of boys and girls who can mate with each other without the costs of inbreeding. (behavior.net)

In all, 35 out of these 94 TPGs occur recurrently, but only 9 specific gene fusions account for more than 90% of all illegitimate recombinations of the MLL gene. (uzh.ch)

The normal RUNX1 protein, produced from the RUNX1 gene, is part of a protein complex called core binding factor (CBF) that attaches (binds) to DNA and turns on genes involved in blood cell development. (medlineplus.gov)
The normal ETO protein, produced from the RUNX1T1 gene, turns off gene activity. (medlineplus.gov)
What does this gene/protein do? (cancerindex.org)
Genes determine characters in a straightforward, additive way: one gene-one protein, and by implication, one character. (i-sis.org.uk)
The FUS gene provides instructions for making a protein that is found within the cell nucleus in most tissues and is involved in many of the steps of protein production. (medlineplus.gov)
Streamlining Regulon Identification in Bacteria Regulons are a group of genes that can be turned on or off by the same regulatory protein. (doe.gov)

Secondary B lymphopoiesis is an antigen-dependent process and occurs in the germinal center of peripheral lymphoid organs with specific antibody production. (medscape.com)

Characterisation of breakpoints in patients with apparently balanced constitutional chromosome rearrangements and phenotypic abnormalities has proved an invaluable strategy for identifying disease causing genes, especially those on the X chromosome. (bmj.com)
3- 6 Phenotypic abnormalities seen in cases with apparently balanced chromosome rearrangements have usually been explained by the disruption of a gene at the breakpoint causing the loss of gene function. (bmj.com)
12- 17 However, there is still further allelic heterogeneity within this region as there are additional XLMR families published that map to Xq28 with a significant lod score but do not have abnormalities in any of these genes. (bmj.com)

Q: There are targeted agents available that can treat ROS1 gene rearrangements, and more are being studied in clinical trials. (curetoday.com)
We know that ROS1 rearrangements occur in about 1 to 2 percent of NSCLCs and, fortunately, they're highly (treatable) drivers. (curetoday.com)
Fluorescence in situ hybridization (FISH) is also an acceptable method, with ROS1positivity defined as the detection of at least 15% of neoplastic nuclei with ROS1 gene rearrangements among a minimum of 50 total neoplastic nuclei. (who.int)

We have long been puzzled by these findings because it is then unclear whether plastomic rearrangements affect plastid gene transcription. (biomedcentral.com)
Here we show that the maize dominant Barren inflorescence3 ( Bif3 ) mutant harbors a tandem duplicated copy of the ZmWUS1 gene, ZmWUS1-B , whose novel promoter enhances transcription in a ring-like pattern. (nature.com)
With GemCode, cells are captured in droplets, and the reverse transcription that occurs within each droplet is used to generate barcoded cDNA. (genengnews.com)
RIViT-seq technology could speed up associating transcription factors with their target genes. (doe.gov)

Association of VPREB1 Gene Copy Number Variation and Rheumatoid Arthritis Susceptibility. (nih.gov)
The potential role of VPREB1 gene copy number variation in susceptibility to rheumatoid arthritis. (nih.gov)

A lineage is expected to evolve to maximise its inclusive fitness-the number of copies of its genes passed on globally (rather than by a particular individual). (wikipedia.org)
Researchers believe that having extra copies of genes on chromosome 21 disrupts the course of normal development, causing the characteristic features of Down syndrome and the increased risk of health problems associated with this condition. (medlineplus.gov)

Dawkins uses the term "selfish gene" as a way of expressing the gene-centred view of evolution (as opposed to the views focused on the organism and the group), popularising ideas developed during the 1960s by W. D. Hamilton and others. (wikipedia.org)
The heritable instructions for constructing an organism, or genes, are encoded in DNA and the whole set of instructions is called the genome. (carnivorousplants.org)
We have a genome of instructions or genes that are like the instruction manual to build an organism and the epigenome which determines which instructions are used and when. (carnivorousplants.org)
Whatever definition of aging we grasp, it turns out that the accompanying age-related changes occur quite quickly after a new organism is formed. (vechnayamolodost.ru)

Dawkins builds upon George C. Williams's book Adaptation and Natural Selection (1966), which argued that altruism is not based upon group benefit per se, but results from selection that occurs "at the level of the gene mediated by the phenotype" and that any selection at the group level occurred only under rare circumstances. (wikipedia.org)
Duplication of one or several of the genes within the 650 kb interval is likely to be responsible for the mental retardation phenotype seen in our patient. (bmj.com)
Recognition of a single-gene disorder as causal for a patient's 'multiple sclerosis-like' phenotype is critically important for accurate direction of patient management, and evokes broader genetic counselling implications for affected families. (medscape.com)

The complex genomic restructuring we discovered, which occurs at discrete times during tumor development, is a unique and important model of carcinogenesis which likely has relevance for other tumor types. (enewspf.com)

We identified rmtE1 , an uncommon 16S ribosomal methyltransferase gene, in an aminoglycoside- and cephalosporin-resistant Escherichia coli sequence type 448 clinical strain co-harboring bla CMY-2 . (cdc.gov)
These results indicate that qac resistance genes are common and that linkage between resistance to disinfectants and penicillin resistance occurs frequently in clinical isolates in Norway. (nofima.no)
In a clinical setting, it could help find expressed gene fusions for personalized therapy. (biomedcentral.com)
The molecular characterization of MLL breakpoints suggests different etiologies in the different age groups and allows the correlation of functional domains of the MLL gene with clinical outcome. (uzh.ch)
Several single gene disorders share clinical and radiologic characteristics with multiple sclerosis and have the potential to be overlooked in the differential diagnostic evaluation of both adult and paediatric patients with multiple sclerosis. (medscape.com)
Here we review single gene disorders that have the potential to mimic multiple sclerosis, provide an overview of clinical and investigational characteristics of each disorder, and present guidelines for when clinicians should suspect an underlying heritable disorder that requires diagnostic confirmation in a patient with a definite or probable diagnosis of multiple sclerosis. (medscape.com)

The first comprises several inserted sequences, such as IS 186 , IS CR1 , and 1 antimicrobial resistance gene, aadA . (cdc.gov)

1q23.1 homozygous deletion and downregulation of Fc receptor-like family genes confer poor prognosis in chronic lymphocytic leukemia. (cancerindex.org)

The complex is thought to regulate Ig gene rearrangements in the early steps of B-cell differentiation. (nih.gov)
Patients typically have recurrent infections and presentation and complications can vary depending upon where the defect has occurred in B-cell development or the degree of functional impairment. (medscape.com)
Following B-cell receptor activation, 2 waves of tyrosine kinase phosphorylation occur. (medscape.com)
Translocations are thought to occur during normal gene rearrangements (Ig, T-cell receptor). (oncolink.org)
Diagnosis of SCL is most appropriately based on combination of histology, immunohistochemical phenotyping (CD3 - T-cell, CD79a - B cell), and polymer chain reaction to assess antigen receptor gene rearrangements (PARR). (vin.com)
It is possible that T-cell lymphoma shows monoclonal expansion of IGH genes or B-cell lymphoma shows monoclonal expansion of TCRG. (vin.com)
PARR for the IGH gene may facilitate the diagnosis of cases histologically highly suggestive of T-cell gastrointestinal lymphoma in which PARR polyclonality of the TCRG gene is detected. (vin.com)
These mice have a unique T-cell receptor (TCR) gene in all cells, as opposed to the mixture present from normal TCR gene rearrangement occurring during immune system development. (ca.gov)
These mice have prerearranged T-cell receptor (TCR) genes in all cells. (ca.gov)
Surprisingly, approximately 50% of mice with prerearranged TCR genes develop spontaneous T cell lymphomas, which originate in the thymus. (ca.gov)
this gene might fuse with another gene that could allow cell growth to continue at a rapid pace. (medlineplus.gov)
Hypersensitivity to cytokinin causes stem cell overproliferation and major rearrangements of Bif3 inflorescence meristems, leading to the formation of ball-shaped ears and severely affecting productivity. (nature.com)
In hopes of discovering new targets for potential Alzheimer's treatments, scientists at MIT have performed the broadest analysis yet of the genomic, epigenomic, and transcriptomic changes that occur in every cell type in the brains of Alzheimer's patients. (scitechdaily.com)
They also tracked changes in cells' epigenomic modifications, which help to determine which genes are turned on or off in a particular cell. (scitechdaily.com)
In hopes of discovering new targets for potential Alzheimer's treatments, MIT researchers have performed the broadest analysis yet of the genomic, epigenomic, and transcriptomic changes that occur in every cell type in the brains of Alzheimer's patients. (scitechdaily.com)
The configuration of the TCR beta gene in primary tumor cells infected by HTLV-I was compared with that in the derived cell lines. (rupress.org)
Constitutional syndromes such as Down syndrome and ataxia-telangiectasia are associated with increased risk of B-cell-ALL (with CRLF2 rearrangement) and T-cell-ALL, respectively. (haematologica.org)
They occur in two forms: one that is attached to a B cell , and the other, a soluble form, that is unattached and found in extracellular fluids such as blood plasma . (wikipedia.org)
This development occurs under the influence of macrophage colony-stimulating factor (M-CSF), which is secreted by various cell types (eg, endothelial cells, fibroblasts). (msdmanuals.com)
Loss of IL-7R function is also associated with the loss of a T-cell receptor (TCR) rearrangement. (medscape.com)

We report the autopsy pathology findings of a 21-week stillborn fetus with congenital mpox syndrome that occurred in the Democratic Republic of the Congo in 2008. (cdc.gov)

In certain circumstances, when a lymph node is not easily accessible for excisional or incisional biopsy, a combination of core biopsy and FNA biopsies in conjunction with appropriate ancillary techniques for the differential diagnosis (immunohistochemistry, flow cytometry, PCR for IGHV and TCR gene rearrangements, karyotype, and fluorescence in situ hybridization [FISH] for major translocations) may be sufficient for diagnosis. (medscape.com)

It can be used to identify high-quality gene fusions for further bioinformatic and experimental studies, including validation of genomic breakpoints and studies of the mechanisms that generate fusions. (biomedcentral.com)

We have developed a fast and very sensitive pipeline for validation of gene fusions detected by RNA-Seq in matched WGS data. (biomedcentral.com)
Gene fusions can help identify patients who are likely to respond to targeted therapies, allowing selection of the most appropriate treatment option for each patient. (biomedcentral.com)
If gene fusions are to be exploited for therapy, methods to accurately detect true events are imperative. (biomedcentral.com)

This allows him to consider what selfishness in a gene might actually mean, describing W. D. Hamilton's argument for kin selection, that genes for behaviour that improves the survival chances of close relatives can spread in a population, because those relatives carry the same genes. (wikipedia.org)

Long-read sequencing revealed insertion of a 101,257-bp fragment carrying both resistance genes to the chromosome. (cdc.gov)
We identified no resistance genes on the other contigs, including those representing a 96-kb IncY plasmid resembling p12579_1 (GenBank accession no. (cdc.gov)
This report presents the status of AMR in Africa by analysing the main types of resistance and the underlying genes where possible. (who.int)

In the CZ, WUS activates the CLV3 gene, encoding a short signaling peptide perceived by a series of leucine-rich repeat (LRR)-receptor-like complexes, among which are complexes containing CLV1 and CLV2. (nature.com)

So, there is supposed to be a Weismann's barrier forbidding environmental influences from changing the genes directly, especially in the germ cells that give rise to the next generation. (i-sis.org.uk)

Discoveries span from disrupted gene patterns and epigenomic changes to the significance of microglia and DNA damage in neurons. (scitechdaily.com)

This graph shows the total number of publications written about "Gene Rearrangement" by people in Harvard Catalyst Profiles by year, and whether "Gene Rearrangement" was a major or minor topic of these publication. (harvard.edu)

Our studies are aimed at understanding the genesis of breakpoints that occur at or near fragile sites during oncogenesis. (virginia.edu)

Maize is very well suited to study the inheritance of specific traits, such as the colour of its kernels, because each kernel in a cob is a separate embryo with its own combination of genes. (embl.org)

The conversion of mature somatic cells into pluripotent stem cells, both by nuclear transfer and transduction with specific 'reprogramming' genes, represents a major advance in regenerative medicine. (ca.gov)

The results indicate an absolute requirement for the rearrangement of the RARA gene in the pathogenesis of APL and underline the importance of RARA during normal myeloid differentiation. (lu.se)

Several other 16S RMTase genes, such as rmtB , rmtC , and rmtF , have been found on the chromosome of gram-negative bacteria ( 7 , 8 ). (cdc.gov)
Despite the large space of potential TCRβ rearrangements, the existence of public clones found in two or more individuals has been well characterized, and occurs more frequently than would be expected by chance ( 6 - 8 ). (biorxiv.org)

Molecular Detection of Oncogenic Gene Rearrangements. (harvard.edu)
Molecular and genetic studies indicated different structural arrangements of blaZ and qacA/B, including variable intergenic distances and transcriptional directions of the two genes on the same plasmid within the strains. (nofima.no)
Thus, a total of 135 different MLL rearrangements have been identified so far, of which 94 TPGs are now characterized at the molecular level. (uzh.ch)

Anatomy37

Organisms5

Diseases52

Chemicals and Drugs64

Analytical, Diagnostic and Therapeutic Techniques and Equipment28

Phenomena and Processes89

Disciplines and Occupations1

Information Science5

Health Care2

Mutations25

Genomic rearrangements6

Chromosomes11

Chromosomal rearrangements7

Recombination8

Translocation13

Immunoglobulin4

Deletions3

Partner genes2

Surrogate light chain1

Genomes5

Commonly5

Germline2

Defects2

KMT2A1

Pathways4

Acute4

Proteins5

Deoxyribonucleic acid1

Mitochondrial2

Cancer11

Chromosome 151

Lymphocytes2

Expression18

Encodes3

Genetics1

Genome rearrangements1

Amplification2

Fusion6

Distinct1

Cancers1

Evolutionary1

Recurrently1

Protein6

Lymphoid1

Abnormalities3

ROS13

Transcription4

Susceptibility2

Copies2

Organism4

Phenotype3

Complex genomic1

Clinical6

Sequences1

Confer1

Cell20

Findings1

Karyotype1

Mechanisms1

Fusions3

Improves1

Resistance3

Receptor1

Influences1

Discoveries1

Publication1

Breakpoints1

Maize1

Somatic1

Results indicate1

Found2

Molecular3