Protein chromosomes human. Medical search. Frequent questions

The genes of human chromosome 21 identified by the genome efforts were investigated, and the success rates for de novo cloning, protein production, and antibody generation were 85, 76, and 56%, respectively. (nih.gov)
Identifying genes on each chromosome is an active area of genetic research. (medlineplus.gov)
Because researchers use different approaches to predict the number of genes on each chromosome, the estimated number of genes varies. (medlineplus.gov)
Chromosome 21 likely contains 200 to 300 genes that provide instructions for making proteins. (medlineplus.gov)
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 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)
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)
hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (nih.gov)
Each cell in the human body contains thousands of genes. (cdc.gov)
In addition, genes have instructions for making proteins in the cells. (cdc.gov)
Genes are found on chromosomes. (cdc.gov)
The chromosomes and genes have a special code called DNA. (cdc.gov)
Because researchers use different approaches to genome annotation , their predictions of the number of genes on each chromosome varies (for technical details, see gene prediction ). (wikipedia.org)
So CCDS's gene number prediction represents a lower bound on the total number of human protein-coding genes. (wikipedia.org)
The following is a partial list of genes on human chromosome 9. (wikipedia.org)
The findings challenge the traditional view of our genetic blueprint as a tidy collection of independent genes, pointing instead to a complex network in which genes, along with regulatory elements and other types of DNA sequences that do not code for proteins, interact in overlapping ways not yet fully understood. (nih.gov)
In recent years, researchers have made major strides in using DNA sequence data to identify genes, which are traditionally defined as the parts of the genome that code for proteins. (nih.gov)
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)
Genes have been identified on the Y chromosome that have been shown to be required for the prevention of cancer and cardiovascular disease," Walsh said via email. (cnn.com)
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)
But SCDC mechanisms work to upregulate, or increase the level, of protein production from genes in the single Z (or X) chromosomes. (newswise.com)
The researchers then compared the activity of genes from sex chromosomes and from autosomes, broken down by male and female turtles. (newswise.com)
We resolve chromosomal sequences and infer sex chromosome-specific parasite genes and new potential drug targets. (nature.com)
The objective of the international Chromosome-Centric Human Proteome Project (C-HPP) is to map and annotate all proteins encoded by the genes on each human chromosome. (unige.ch)
The C-HPP consortium was established to organize a collaborative network among the research teams responsible for protein mapping of individual chromosomes and to identify compelling biological and genetic mechanisms influencing colocated genes and their protein products. (unige.ch)
Genes are segments of deoxyribonucleic acid (DNA) that contain the code for a specific protein that functions in one or more types of cells in the body or the code for functional ribonucleic acid (RNA) molecules. (msdmanuals.com)
Chromosomes are structures within cells that contain a person's genes. (msdmanuals.com)
Genes are contained in chromosomes, which are in the cell nucleus. (msdmanuals.com)
A chromosome contains hundreds to thousands of genes. (msdmanuals.com)
Protein synthesis is controlled by genes, which are contained on chromosomes. (msdmanuals.com)
Humans have about 20,000 to 23,000 genes. (msdmanuals.com)
Genes vary in size, depending on the sizes of the proteins or RNA for which they code. (msdmanuals.com)
A chromosome contains many genes. (msdmanuals.com)
Until ten years ago, it was hoped that the mapping of the human genome - all our genes - would enable us to better understand the course of different diseases. (lu.se)
We need to know more about the proteins that our genes produce. (lu.se)
A lot happens in a cell when information is transferred from the genes' coding to a protein", explains Ákos Végvári, a researcher at the Division of Electrical Measurements at Lund University. (lu.se)
We have around 20 000 genes that can produce at least 500 000 proteins. (lu.se)
This means taking different types of cancer, for example, as the starting point and trying to identify the genes and the different protein variants that differ between healthy and ill individuals. (lu.se)
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)

Every human cell contains 23 pairs of chromosomes. (cdc.gov)
Every normal human cell contains 23 pairs of chromosomes, for a total of 46 chromosomes. (msdmanuals.com)
Except for certain cells (for example, sperm and egg cells and red blood cells), the cell nucleus contains 23 pairs of chromosomes. (msdmanuals.com)

The approach is based on affinity reagents raised toward bioinformatics-designed protein epitope signature tags corresponding to unique regions of individual gene loci. (nih.gov)
Using human tissue arrays, a systematic profiling of protein expression and subcellular localization was undertaken for the putative gene products. (nih.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 normal ETO protein, produced from the RUNX1T1 gene, turns off gene activity. (medlineplus.gov)
The gene HSPD1P19 or Heat Shock Protein Family D Member 1 Pseudogene 19 neighbors the gene, running before C20orf85, from the 5' to 3' end. (wikipedia.org)
Single-gene knockout-coupled omics analysis identifies C9orf85 and CXorf38 as two uncharacterized human proteins associated with ZIP8 malfunction. (nih.gov)
The FMR1 gene makes a protein called FMRP that is needed for brain development. (cdc.gov)
The FMR1 gene is on the X chromosome. (cdc.gov)
Having more than 200 repeats causes the FMR1 gene to "turn off" so that it can't make FMRP (the protein made by the FMR1 gene). (cdc.gov)
A female has two copies of the FMR1 gene, one on each of her two X chromosomes. (cdc.gov)
A male has only one copy of the FMR1 gene on his only X chromosome, so the group a male is in is based on the number of CGG repeats in that one copy. (cdc.gov)
These are some of the gene count estimates of human chromosome 9. (wikipedia.org)
The ABO gene , which determines ABO blood type , is located on the long arm of this chromosome. (wikipedia.org)
This gene encodes a protein with protease activity and is expressed in the placenta. (cancerindex.org)
What does this gene/protein do? (cancerindex.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)
In normal conditions, a replica of the gene produces a protein called huntingtin. (home-remedies-for-you.com)
The mouse Pitx2 gene encodes three distinct protein isoforms (Pitx2a, b, c), and Pitx2c plays a determinant role in left-right atrium signaling from early somitogenesis onward 5 . (nature.com)
This gene is located on human chromosome 11q23.3. (sigmaaldrich.com)
A protein consists of one or more chains of amino acids (called polypeptides) whose sequence is encoded in a gene. (genome.gov)
Autosomal" means that the gene in question is located on one of the numbered, or non-sex, chromosomes. (genome.gov)
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)
Understanding the diversity of SCDC mechanisms in nature, how they happen and evolve, informs more broadly on how animals and humans compensate for gene dose imbalance, and why the failure to properly compensate for these differences leads to disease states," Valenzuela said. (newswise.com)
The Z chromosomes contain instructions for some of the proteins normally functioning cells should produce, and having only a single copy of a chromosome can result in a reduced amount of proteins produced, because protein production is often affected by the number of gene copies. (newswise.com)
The pump mutation is in ATP2C1 , a gene localized on chromosome 3. (medscape.com)
The gene ATP2C1 encodes the human secretory pathway Ca ++ -ATPase hSPCA1, which is dysfunctional and causes abnormal calcium release from the Golgi apparatus and endoplasmic reticulum. (medscape.com)
Mutations in the recently identified MEN1 gene at chromosome 11q13 have been found in parathyroid tumors of nonfamilial pHPT. (lu.se)
A gene is a segment of DNA that provides the code to construct a protein or RNA molecule. (msdmanuals.com)
Mutant Single Nucleotide Polymorphism rs189037 in Ataxia-Telangiectasia Mutated Gene Is Significantly Associated With Ventricular Wall Thickness and Human Lifespan. (cdc.gov)
90% of cases, mutations that from mutation in the dystrophin gene (located on short disrupt the reading frame (frame shift) lead to arm of X chromosome, Xp21). (who.int)
Contains the SH2D1A gene for SH2 domain protein 1A, Duncan's disease (lymphoproliferative syndrome) (DSHP), part of a 60S Acidic Ribosomal protein 1 (RPLP1) LIKE gene and part of a mouse DOC4 LIKE gene. (lu.se)

Humans normally have 46 chromosomes in each cell, divided into 23 pairs. (medlineplus.gov)
Two copies of chromosome 21, one copy inherited from each parent, form one of the pairs. (medlineplus.gov)
Chromosome 21 is the smallest human chromosome, spanning about 48 million base pairs (the building blocks of DNA) and representing 1.5 to 2 percent of the total DNA in cells. (medlineplus.gov)
In 2000, researchers working on the Human Genome Project announced that they had determined the sequence of base pairs that make up this chromosome. (medlineplus.gov)
fChromosome 9 is one of the 23 pairs of chromosomes in humans . (wikipedia.org)
Chromosome 9 spans about 150 million base pairs of nucleic acids (the building blocks of DNA ) and represents between 4.0 and 4.5% of the total DNA in cells . (wikipedia.org)
Cell with chromosomes in pairs. (marxist.com)
Human DNA contains 23 pairs of 46 chromosomes. (home-remedies-for-you.com)
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 first attempt to determine the building blocks of our genetic code took place 20 years ago, but there were still significant gaps left in the sequences of all 23 pairs of human chromosomes. (cnn.com)
Each time an amino acid is added to a growing polypeptide during protein synthesis, a tRNA anticodon pairs with its complementary codon on the mRNA molecule, ensuring that the appropriate amino acid is inserted into the polypeptide. (genome.gov)
23 pairs of chromosomes. (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)
Affected people have two copies of chromosome 21 plus extra material from chromosome 21 attached to another chromosome, resulting in three copies of genetic material from chromosome 21. (medlineplus.gov)
These studies implicate a potential mechanism suppressing the loss of genetic material after chromosome pulverization, although how distinct patterns of rearrangements arise in cancer and germline disorders remains unclear. (nature.com)
ENCODE Research Consortium Uncovers Surprises Related to Organization and Function of Human Genetic Blueprint. (nih.gov)
Having a complete Y chromosome genetic reference may help scientists and doctors further explore this potential link. (cnn.com)
Better promoters, enhancers, and other genetic elements have contributed to increased upstream production of proteins. (genengnews.com)
These fluorescent spotlights on the chromosomes represent the genetic region that codes for the protein of interest. (genengnews.com)
These chromosomes also contain the genetic codes for the production of essential proteins, and the disproportion in chromosomes in XY individuals caused by them carrying only a single X for every pair of non-sex chromosomes (called autosomes) can lead to an imbalance in the production of proteins. (newswise.com)
Together, these data demonstrate that human brain cells (both neurons and non-neuronal cells) can be aneuploid and that the resulting genetic mosaicism is a normal feature of the human CNS. (jneurosci.org)
Hailey-Hailey disease, or familial benign pemphigus, is hypothesized to result from a genetic defect in a calcium pump protein. (medscape.com)
DNA (deoxyribonucleic acid) is the cell's genetic material, contained in chromosomes within the cell nucleus and mitochondria. (msdmanuals.com)
Down syndrome (DS) is a genetic disorder caused by trisomy of chromosome 21. (bvsalud.org)

Bod1 depletion does not affect the activity or localization of Aurora B but does cause mislocalization of the microtubule depolymerase mitotic centromere- associated kinesin and prevents its efficient phosphorylation by Aurora B. Therefore, Bod1 is a novel kinetochore protein that is required for the detection or resolution of syntelic attachments in mitotic spindles. (rupress.org)
Mitotic chromosome segregation requires the coordination of both regulatory and mechanical molecular machines and culminates in the delivery of two complete sets of chromosomes to two daughter cells. (rupress.org)
In a proteomic survey for human CLASP1-interacting proteins during mitosis, we have previously identified SOGA1 and SOGA2/MTCL1, whose mitotic roles remained uncharacterized. (abberior.rocks)
Immunofluorescence analysis revealed that SOGA2/MTCL1 co-localizes with mitotic spindle microtubules and spindle poles throughout mitosis and both SOGA proteins are enriched at the midbody during mitotic exit/cytokinesis. (abberior.rocks)
Mechanistically, the CIP2A-TOPBP1 complex prematurely associates with DNA lesions within ruptured micronuclei during interphase, which poises pulverized chromosomes for clustering upon mitotic entry. (nature.com)
Mitotic clustering facilitates the reassembly of acentric fragments into rearranged chromosomes lacking the extensive DNA copy-number losses that are characteristic of canonical chromothripsis. (nature.com)
The maintenance of a single centromere per chromosome is critical for establishing bipolar microtubule attachments to the mitotic spindle and achieving high-fidelity genome segregation 17 . (nature.com)
Centromere-associated protein-E (CENP-E) is an essential mitotic kinesin that is required for efficient, stable microtubule capture at kinetochores. (rupress.org)

Orthologous to human SMC5 (structural maintenance of chromosomes 5). (nih.gov)

Diploid (2n): 2 sets of chromosomes. (mindmeister.com)

SMC5/6 is required for replication fork stability and faithful chromosome segregation during neurogenesis. (nih.gov)
We have combined the proteomic analysis of Xenopus laevis in vitro-assembled chromosomes with RNA interference and live cell imaging in HeLa cells to identify novel factors required for proper chromosome segregation. (rupress.org)
During mitosis, CLASPs independently associate with growing microtubule plus-ends and kinetochores and play essential roles in chromosome segregation. (abberior.rocks)
Live-cell imaging after siRNA-mediated knockdown of SOGA1 and SOGA2/MTCL1 showed that they are independently required for distinct aspects of chromosome segregation. (abberior.rocks)

Here, using double-label fluorescence in situ hybridization for the autosome chromosome 21 (chromosome 21 point probes combined with chromosome 21 "paint" probes), along with immunocytochemistry and cell sorting, we present evidence for chromosome gain and loss in the human brain. (jneurosci.org)
Chromosome 21 was chosen for examination because of the availability of trisomy 21 cells ( Bhattacharyya and Svendsen, 2003 ) that could serve as a positive control for fluorescence in situ hybridization (FISH). (jneurosci.org)

DNA sequence and analysis of human chromosome 9. (nih.gov)
Having the human genome sequence is similar to having all the pages of an instruction manual needed to make the human body. (nih.gov)
Now, the same group of researchers has filled in the missing information, publishing a complete Y chromosome sequence Wednesday in the journal Nature . (cnn.com)
The more detailed information provided by the new Y reference sequence will make it easier to study conditions and disorders linked to the chromosome, such as lack of sperm production that leads to infertility. (cnn.com)
The human TROP-2 protein consists of a putative 26 amino acid (aa) signal sequence, a 248 aa extracellular domain, a 23 aa transmembrane region and a 26 aa cytoplasmic domain. (rndsystems.com)
Human DNA sequence from clone 1052M9 on chromosome Xq25. (lu.se)
Proteins are formed of only 20 different amino acids, but almost all proteins are composed in such a way that part of the sequence is unique. (lu.se)
It is this unique sequence that researchers use to identify and quantify the protein. (lu.se)

Chromosome 21 abnormalities can cause intellectual disability, delayed development, and characteristic facial features. (medlineplus.gov)
Therefore, it is important to systematically define the epigenetic abnormalities that hESCs and hiPSCs carry, to understand how and when the epigenetic instability of the X chromosome arises during the derivation of these cells, to define the consequences if the different X chromosome states for differentiation, and to find ways to overcome the epigenetic instability. (ca.gov)
However, no single test for protein C is 100% sensitive or specific for detecting abnormalities. (medscape.com)

People get one of each pair of chromosomes from their mother and one of each pair from their father. (cdc.gov)
The chromosomes that form the 23rd pair are called the sex chromosomes. (cdc.gov)
Humans typically have a pair of sex chromosomes in each cell. (cnn.com)
Many organisms determine their sex by a pair of specialized chromosomes that appear in virtually every cell of an organism's body. (newswise.com)
A matched pair of chromosomes results in one sex, while a mismatched pair results in another sex. (newswise.com)

mRNA C20orf85 has 805 nucleotides which encodes for the C20orf85 protein. (wikipedia.org)
This new analysis will allow us to better understand the regions of the Y chromosome that have regulatory functions and may encode mRNA and proteins. (cnn.com)
In a cell, antisense DNA serves as the template for producing messenger RNA (mRNA), which directs the synthesis of a protein. (genome.gov)
At the ribosome, the processed mRNA is translated to produce proteins from amino acid units. (cdc.gov)

The completion of the Human Genome Project in April 2003 was a major achievement, but the sequencing of the genome marked just the first step toward the goal of using such information to diagnose, treat and prevent disease. (nih.gov)

This could have significant implications for efforts to identify the DNA sequences involved in many human diseases. (nih.gov)
In particular, we gained significant insight into DNA sequences that do not encode proteins, which we knew very little about before," said Ewan Birney, Ph.D., head of genome annotation at the European Molecular Biology Laboratory's European Bioinformatics Institute (EBI) in Hinxton, England, who led ENCODE's massive data integration and analysis effort. (nih.gov)
However, over half of the sequences within the Y chromosome, the smallest and most complicated of the 46 human chromosomes, remained unknown. (cnn.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)
By using three consecutive mass analysis units in mass spectrometry, the researchers can now filter out rare protein sequences. (lu.se)
We mustn't measure anything other than the protein sequences that interest us", says Ákos Végvári. (lu.se)

Adibalapravritta, chromosome at Xp21 locus. (who.int)

Recent research suggests the Y chromosome is also important for health and longevity, said Kenneth Walsh, a professor of biochemistry and molecular genetics at the University of Virginia School of Medicine, who was not involved in the new research. (cnn.com)
Using advanced techniques in molecular biology and genetics, biochemistry, and structural analysis, I will determine the atomic structure of an operational replication complex and characterize the contacts made by its constituent proteins, interactions that are critical for the complex to function. (pewtrusts.org)

The following chromosomal conditions are associated with changes in the structure or number of copies of chromosome 21. (medlineplus.gov)
Aneuploidy is defined as the loss and/or gain of chromosomes to produce a numerical deviation from multiples of the haploid chromosomal complement ( King and Stansfield, 1990 ). (jneurosci.org)
It is the most common chromosomal abnormality found in humans. (bvsalud.org)

This work demonstrates that neither inactivation of the major repair proteins XRCC3 and the DNA-dependent protein kinase (DNA-PK) nor inhibition of DNA-PK by vanillin influences the aggregation of DSB-containing chromosome domains. (nih.gov)
In placental mammals, dosage compensation occurs by silencing one X-chromosome in female cells, a process known as X-chromosome inactivation. (ca.gov)

The results suggest that this affinity proteomics strategy can be used to produce a proteome atlas, describing distribution and expression of proteins in normal tissues as well as in common cancers and other forms of diseased tissues. (nih.gov)
Recent Advances in the Chromosome-Centric Human Proteome Project: Missing Proteins in the Spot Light. (pubchase.com)
The antibodies that have been generated in support of the Tissue and Cancer Atlas projects have been tested by immunohistochemistry against hundreds of normal and disease tissues and through the recent efforts of the Human Cell Atlas project, many have been characterized by immunofluorescence to map the human proteome not only at the tissue level but now at the subcellular level. (sigmaaldrich.com)
A companion approach for the Biology and Disease-Driven HPP (B/D-HPP) component of the Human Proteome Project is currently being organized, building upon the Human Proteome Organization's organ-based and biofluid-based initiatives (www.hupo.org/research). (unige.ch)
The common application of these guidelines in the participating laboratories is expected to facilitate the goal of a comprehensive analysis of the human proteome. (unige.ch)
We are now trying to look at the whole proteome, i.e. all the proteins in a certain type of cell at a certain time. (lu.se)

Chromosome 21 was the second human chromosome to be fully sequenced. (medlineplus.gov)
Scientists have fully sequenced the Y chromosome for the first time, uncovering information that could have implications for the study of male infertility and other health problems. (cnn.com)

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)
However, it has been questioned whether loss of the Y chromosome is a biomarker of biological aging or whether loss of the Y chromosome has a direct effect on the health of men," he said. (cnn.com)
An animal model is a non-human species used in biomedical research because it can mimic aspects of a biological process or disease found in humans. (genome.gov)
All proteins were subjected to Ingenuity Pathway Analysis (IPA) to create 13 biological networks and 17 pathways of interacting protein clusters in human ortholog. (cdc.gov)

PC-3 human prostate cancer cell line was stained with Mouse Anti-Human TROP-2 PE-conjugated Monoclonal Antibody (Catalog # FAB650P, filled histogram) or isotype control antibody (Catalog # IC003P , open histogram). (rndsystems.com)

Thus, the genotype is a complete set of instructions on how that person's body synthesizes proteins and thus how that body is supposed to be built and function. (msdmanuals.com)
A karyotype is a picture of the full set of chromosomes in a person's cells. (msdmanuals.com)

C) on chromosome 4q25 with atrial fibrillation (AF), but phenotype alterations conferred by this SNP have not been described. (nature.com)
Located at chromosome 4q25. (chuv.ch)

The first of these is Bod1, a protein conserved throughout metazoans that associates with a large macromolecular complex and localizes with kinetochores and spindle poles during mitosis. (rupress.org)
Here we performed an initial functional characterization of human SOGA1 and SOGA2/MTCL1 during mitosis. (abberior.rocks)
Using specific polyclonal antibodies raised against SOGA proteins, we confirmed their expression and reciprocal interaction with CLASP1 and CLASP2 during mitosis. (abberior.rocks)
As each chromosome contains a single centromere, it remains unclear how acentric fragments derived from shattered chromosomes are inherited between daughter cells during mitosis 6 . (nature.com)
Here we tracked micronucleated chromosomes with live-cell imaging and show that acentric fragments cluster in close spatial proximity throughout mitosis for asymmetric inheritance by a single daughter cell. (nature.com)
Here we show that pulverized chromosomes from micronuclei spatially cluster throughout mitosis and identify the CIP2A-TOPBP1 complex as an essential regulator of this process. (nature.com)

Encodes the G protein-coupled receptor tachykinin receptor 3 (TACR3) also called neurokinin B (NKB) receptor. (chuv.ch)

Unlike female mouse embryonic stem cells (ESCs), which possess two active X chromosomes and undergo XCI upon induction of differentiation, female human ESCs exhibit various epigenetic states of the X chromosome, indicating a surprising epigenetic instability of these cells under normal culturing conditions. (ca.gov)

Mitochondria are subcellular structures that maintain their own small genome, separate from the chromosomes found in the nucleus. (pewtrusts.org)
Each cell (except for red blood cells) contains a nucleus that houses these chromosomes. (cdc.gov)

Trisomy 21 means that each cell in the body has three copies of chromosome 21 instead of the usual two copies. (medlineplus.gov)
Changes involving chromosome 21 can include a missing segment of the chromosome in each cell (partial monosomy 21) and a circular structure called ring chromosome 21. (medlineplus.gov)
The research titled "Immunohistochemical localization of LLC1 in human tissues and its limited expression in non-small cell lung cancer" found expression in the lung but no further findings have been evaluated from that article. (wikipedia.org)
Human brain cells are sensitive to this protein and end up stalling their functioning, ultimately destroying the cell. (home-remedies-for-you.com)
The Human Protein Atlas project can be subdivided into three efforts: Human Tissue Atlas, Cancer Atlas, and Human Cell Atlas. (sigmaaldrich.com)
Aneuploidy is an abnormality in the number of chromosomes in a cell due to loss or duplication. (genome.gov)
The application of human embryonic stem cells (hESCs) requires reliable cell sources that do not change over time and initiate proper transcriptional and chromatin changes upon induction of differentiation. (ca.gov)
Human embryonic stem cells (hESCs) are able to divide indefinitely and under the proper conditions, can essentially become any cell in the human body. (ca.gov)
Mammalian cell culture is and will remain the principle vehicle for protein production in upstream manufacturing, according to Florian Wurm, Ph.D., professor of biochemistry at the University of Lausanne and founder of ExcellGene . (genengnews.com)
By periodically monitoring the karyotype of the cells during the scale-up process, it is possible to guarantee the presence of the target marker, assuring that the cell will in fact produce the desired protein. (genengnews.com)
Detection of TROP‑2 in PC‑3 Human Cell Line by Flow Cytometry. (rndsystems.com)
Human TROP-2, also known as Tumor Associated Calcium Signal Transducer 2 (TACSTD2), GA733-1, gp50 and T16, is a type I cell surface glycoprotein that is highly expressed on human carcinomas. (rndsystems.com)
Specialized cell structures called ribosomes are the cellular organelles that actually synthesize the proteins (RNA transcription). (cdc.gov)
SH2 domain protein 1A (SLAM-associated protein) (T cell signal transduction molecule SAP) (Duncan's disease SH2-protein). (lu.se)

The C20orf85 protein is predicted to be found in the extracellular space or the cytoplasm, per PSORTII, DeepLoc 1.0, and DeepLoc 2.0. (wikipedia.org)
On the basis of high-throughput transcriptomics data, we identify whipworm proteins that are highly expressed in the anterior region of the parasite, that is, in intimate contact with the cytoplasm of host intestinal cells and the immune system. (nature.com)

In humans, aneuploidy would be any number of chromosomes other than the usual 46. (genome.gov)
Toward determining the presence of constitutional aneuploidy in the human brain, we report here an analysis of the frequency of chromosome 21 gain and loss among neurons and non-neuronal cells isolated from the cerebral cortex and hippocampus of normal individuals ranging from 2 to 86 years of age. (jneurosci.org)

For instance, in humans and many other species, sex chromosomes are referred to as X and Y. Typically, two X chromosomes result in a female while XY chromosomes result in males. (newswise.com)
In the case of the softshell turtles included in the study, the sex chromosomes are referred to as Z and W, and it's the females of the species who have mismatched, or ZW, chromosomes. (newswise.com)
Valenzuela has studied temperature-dependent sex determination (TSD), or the way environmental temperatures influence whether a turtle embryo develops into a male or female in species that lack sex chromosomes, in previous research. (newswise.com)

It is also reported that human PITX2 insufficiency results in cellular and molecular changes leading to atrial electrical and structural remodeling linked to arrhythmogenesis 6 . (nature.com)
SCOPe: Structural Classification of Proteins - extended. (berkeley.edu)
Cells depend on their DNA for coding information to make various classes of proteins that include enzymes, certain hormones, transport proteins, and structural proteins that support life. (cdc.gov)

About 98% of estradiol is bound to transport proteins (SHBG and albumin). (cdc.gov)

An amino acid is the fundamental molecule that serves as the building block for proteins. (genome.gov)
DNA contains the code, or blueprint, used to synthesize a protein or a ribonucleic acid (RNA) molecule. (msdmanuals.com)

Enzymes are complex proteins that control and carry out nearly all chemical processes and reactions within the body. (msdmanuals.com)

Characterization of a novel human SMC heterodimer homologous to the Schizosaccharomyces pombe Rad18/Spr18 complex. (nih.gov)

Here we show that an affinity proteomics strategy using affinity-purified antibodies raised against recombinant human protein fragments can be used for chromosome-wide protein profiling. (nih.gov)
In direct ELISAs, no cross-reactivity with recombinant human (rh) VCAM‑1 or rhICAM‑1 is observed. (rndsystems.com)

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Moreover, we have developed a strategy that erases the instability of the inactive X chromosome and enables faithful X chromosome dosage compensation in differentiating hESCs and hiPSCs, which is critical for the use of these cells in regenerative medicine, disease studies, and basic research. (ca.gov)

Regardless of mutation type or allelic loss, the loss of expression of the NF2 protein, merlin, appears to be universal in schwannomas. (bmj.com)
The aPTT-based functional protein C assay may yield misleadingly low protein C levels in the presence of (1) a factor V Leiden mutation and some other causes of activated protein C resistance, (2) elevated plasma factor VIII levels, or (3) hyperlipidemia. (medscape.com)

An autosome is one of the numbered chromosomes, as opposed to the sex chromosomes. (genome.gov)

The fusion protein produced from the t(8;21) translocation, called RUNX1-ETO, retains some functions of the two individual proteins. (medlineplus.gov)

C20orf85 has many interacting proteins, the proteins below were included because of their association to diseases and similarity in localization with C20orf85. (wikipedia.org)
These papers likely represent the tip of the iceberg in terms of understanding the role of the Y chromosome in age-associated diseases," Walsh said, adding that the loss of the Y chromosome could partially account for men's shorter life spans. (cnn.com)
The importance of maintaining a proper balance is made evident by diseases caused by abnormal numbers of sex chromosomes, including Klinefelter syndrome and Turner syndrome in humans, and Valenzuela said these processes have evolutionary and health implications in many other organisms as well. (newswise.com)
This data will allow for analysis of the selected steroid hormones and related binding protein that can be used to assist in disease diagnosis, treatment, and prevention of diseases, such as Polycystic Ovary Syndrome (PCOS), androgen deficiency, certain cancers, and hormone imbalances. (cdc.gov)
A few years ago, researchers believed that they would easily be able to identify individual biomarkers for different diseases, i.e. that one protein would be enough to diagnose a certain disease. (lu.se)

The ENCODE consortium's major findings include the discovery that the majority of DNA in the human genome is transcribed into functional molecules, called RNA, and that these transcripts extensively overlap one another. (nih.gov)

Chromosome 21 aneuploid cells constitute ∼4% of the estimated one trillion cells in the human brain and include non-neuronal cells and postmitotic neurons identified by the neuronspecific nuclear protein marker. (jneurosci.org)

This protein contains 137 Amino acids and is most commonly called "uncharacterized protein C20orf85," or pfam14945. (wikipedia.org)
C20orf85 protein is rich in the amino acids tryptophan and proline, compared to other human proteins. (wikipedia.org)

In the Yin lab, I will study the human mitochondrial replisome, a specialized protein complex machinery that cells use to copy the DNA found in their mitochondria. (pewtrusts.org)

Moreover, we have started to assess strategies that would prevent the instability of the inactive X chromosome and allow normal dosage compensation upon differentiation of hESCs. (ca.gov)
The study sheds light on how organisms have evolved to address such imbalances through a process called sex chromosome dosage compensation, or SCDC. (newswise.com)
What is sex chromosome dosage compensation? (newswise.com)
Sex chromosome dosage compensation comes into play for individuals who have mismatched sex chromosomes. (newswise.com)
The study represents not only the first such study to analyze sex chromosome dosage compensation in turtles, but the findings also show that remarkably, temperature appears to affect the SCDC process in the turtles. (newswise.com)

NF-kappa-B is a homo- or heterodimeric complex formed by the Rel-like domain-containing proteins RELA/p65, RELB, NFKB1/p105, NFKB1/p50, REL and NFKB2/p52. (abcam.com)
NFKB1 appears to have dual functions such as cytoplasmic retention of attached NF-kappa-B proteins by p105 and generation of p50 by a cotranslational processing. (hmdb.ca)

Therefore, it is important to understand how and when aberrancies such as the epigenetic instability of the X chromosome arise, and to define their consequences for differentiation processes and the differentiated progeny. (ca.gov)

Within the research field of proteomics, researchers study the link between proteins and disease. (lu.se)
However, mapping all our proteins, which is the initial goal of the new research field known as proteomics, will take a long time. (lu.se)

More copies means more protein production. (newswise.com)

However, most fragments derived from pulverized chromosomes are acentric and cannot directly bind to spindle microtubules 14 . (nature.com)

View our protocol for Staining Membrane-associated Proteins . (rndsystems.com)

Thus, distinct patterns of chromothripsis can be explained by the spatial clustering of pulverized chromosomes from micronuclei. (nature.com)

Some ELISAs may recognize protein C complexed to its inhibitor, but others may not. (medscape.com)

Proteins are not just building blocks for muscles, connective tissues, skin, and other structures. (msdmanuals.com)

The conclusions, findings, and opinions expressed by authors contributing to this journal do not necessarily reflect the official position of the U.S. Department of Health and Human Services, the Public Health Service, the Centers for Disease Control and Prevention, or the authors' affiliated institutions. (cdc.gov)
Huntington's disease is a familial malady that is passed on to all generations through a faulty protein. (home-remedies-for-you.com)
Animal models (e.g., mice, rats, zebrafish and others) are sufficiently like humans in their anatomy, physiology or response to a pathogen that researchers can extrapolate the results of animal model studies to better understand human physiology and disease. (genome.gov)
Since this epigenetic variation could have implications for the use of female human ESCs in regenerative medicine, disease studies, and basic research, in this proposal, we are aiming to determine how the epigenetic variability of the X chromosome arises during derivation and maintenance of human ESCs, the causes and consequences of deregulation of XCI in human ESCs, and to devise methods of stabilizing Xist expression in human ESCs. (ca.gov)
Overall, the systematic and comparative analysis of cellular ROS functions in organisms of lower complexity provides clues for understanding the contribution of ROS and ROS deficiency to human health and disease. (frontiersin.org)
A dysfunction of phagocyte NOX, on the other hand, results in chronic granulomatous disease (CGD) in humans, characterized by recurrent bacterial and fungal infections as well as granuloma formation and hyperinflammation. (frontiersin.org)
Decreased ATM Protein Expression Is Substantiated with PTEN Loss in Defining Aggressive Phenotype of Prostate Cancer Associated with Lethal Disease. (cdc.gov)
There is often a whole network of proteins involved and that also changes in the different stages of the disease", says Ákos Végvári. (lu.se)

Anatomy66

Organisms12

Diseases29

Chemicals and Drugs28

Analytical, Diagnostic and Therapeutic Techniques and Equipment26

Psychiatry and Psychology1

Phenomena and Processes170

Disciplines and Occupations1

Technology, Industry, Agriculture2

Information Science4

Health Care1

Genes39

Contains 23 pairs of chromosomes3

Gene32

Pairs12

Genetic12

Mitotic8

Maintenance of chromosomes1

Sets of chromosomes1

Segregation4

Fluorescence In Situ Hybri2

Sequence8

Abnormalities3

Pair5

MRNA4

Genome Project1

Sequences7

Locus1

Genetics2

Chromosomal3

Inactivation2

Proteome6

Fully sequenced2

Biological4

Antibody1

Person's2

4q252

Mitosis6

Encodes1

Mouse embryonic1

Nucleus2

Cell14

Cytoplasm2

Aneuploidy2

Species3

Structural3

Transport proteins1

Molecule2

Enzymes1

Homologous1

Recombinant human2

Metabolome Database1

Faithful1

Mutation2

Autosome1

Translocation1

Diseases5

Encode1

Nuclear1

Amino acids2

Mitochondria1

Dosage compensation5

P1052

Processes1

Proteomics2

Copies1

Microtubules1

Membrane1

Distinct1

Inhibitor1

Tissues1

Disease8