Gene protein transport. Medical search. Frequent questions

We investigate the functional relevance of de novo missense variants, specifically whether they are likely to disrupt protein interactions, and nominate novel genes in risk for ASD through integrated genomic, transcriptomic, and proteomic analyses. (springer.com)
Download DNA or protein sequence, view genomic context and coordinates. (yeastgenome.org)
The genes encoding the type II gonadotropin-releasing hormone receptor and the ribonucleoprotein RBM8A in humans overlap in two genomic loci. (medlineplus.gov)

Subunit interactions and organization of the Chlamydomonas reinhardtii intraflagellar transport complex A proteins. (medlineplus.gov)
The SEC61A1 gene encodes for the pore-forming Sec61α subunit of the Sec61 complex. (amrita.edu)
Here, removal of intact α 6 protein from cerebellar granule cells allowed perturbations in other subunit levels to be studied. (jneurosci.org)
Exon 8 of the mouse α 6 subunit gene was disrupted by homologous recombination. (jneurosci.org)
For example, cerebellar granule cells express six subunit genes abundantly (α 1 , α 6 , β 2 , β 3 , γ 2 , and δ), and so they probably have several distinct GABA A receptor subtypes of unknown subunit stoichiometry. (jneurosci.org)

LM aerosols also specifically decreased the mRNA expression of the olfactory marker protein (Omp) and tyrosine hydroxylase (Th) in the olfactory bulb. (cdc.gov)
After differentiating the mutant and corrected cells into lung organoids, we show expression of SFTPB mRNA during endodermal and organoid differentiation but the protein product only after organoid differentiation. (nature.com)
Rattus norvegicus receptor (chemosensory) transporter protein 2 (Rtp2), mRNA. (genscript.com)
These functions include helping to transport molecules called messenger RNA (mRNA), which serve as the genetic blueprint for making proteins. (medlineplus.gov)
RNA-binding motif protein 8A likely carries mRNA molecules from the nucleus to areas of the cell where proteins are assembled. (medlineplus.gov)
It may also be involved in controlling how the instructions in mRNA molecules are used to build proteins and in destroying mRNA that is defective or not needed. (medlineplus.gov)
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)
In a cell, antisense DNA serves as the template for producing messenger RNA (mRNA), which directs the synthesis of a protein. (genome.gov)
Using a newly developed human neuronal cell model, derived from patient-induced pluripotent stem cells, we find that 2-aminobenzamide histone deacetylase (HDAC) inhibitors increase FXN mRNA levels and frataxin protein in FRDA neuronal cells. (frontiersin.org)

This particular family member encodes a protein involved in transporting chloride, oxalate, sulfate and bicarbonate. (wikipedia.org)
This gene encodes a component of a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. (nih.gov)
TTC triplet repeat expansion in an intron of the nuclear FXN gene, which encodes the essential mitochondrial protein frataxin ( 1 ). (frontiersin.org)
It encodes a membrane-associated protein called the cystic fibrosis transmembrane conductance regulator (CFTR). (msdmanuals.com)

The gene for the enzyme tyrosinase has been localized to chromosome 11. (medscape.com)
The P gene has been mapped to chromosome 15 and is more commonly linked with albinism in patients of African descent. (medscape.com)
Most people with TAR syndrome have a mutation in one copy of the RBM8A gene and a deletion of genetic material from chromosome 1 that includes the other copy of the RBM8A gene in each cell. (medlineplus.gov)
A small number of affected individuals have mutations in both copies of the RBM8A gene in each cell and do not have a deletion on chromosome 1. (medlineplus.gov)
People with either an RBM8A gene mutation and a chromosome 1 deletion or with two gene mutations have a decreased amount of RNA-binding motif protein 8A. (medlineplus.gov)
The RBM8A gene is found on chromosome 1 . (medlineplus.gov)
Therefore, during development female cells apply epigenetic changes to permanently close down all the genes on one X chromosome. (edu.au)
The responsible gene has been localized on the long arm of chromosome 7. (msdmanuals.com)

Before prescribing simvastatin, your doctor may recommend genetic testing for the SLCO1B1 gene to check if simvastatin is the best statin for you or to determine what dose would work best. (cdc.gov)
If your doctor prescribes amitriptyline, he or she might recommend genetic testing for the CYP2D6 and CYP2C19 genes to help decide what dose of the drug you need. (cdc.gov)
Other genetic changes delete a small amount of DNA from critical regions of the MYO7A gene, which probably changes the structure of the protein. (medlineplus.gov)
Many of these genetic changes alter a single protein building block (amino acid) in critical regions of the myosin VIIA protein. (medlineplus.gov)
Microarrays representing thousands of individual genes allow very high throughput analysis of genes and gene expression patterns will facilitate identification and genetic transfer of significant traits from one crop species to the other in a regulated fashion which is major difference between conventional breeding and biotechnology. (science20.com)
[6] [13] About half of these genetic cases are due to disease-causing variants in one of four specific genes . (wikipedia.org)
Miniscule changes in previously little-noticed flexible segments of the Glut1 protein could lead to severe cellular disturbances - other genetic disorders might be caused by the same mechanism. (eurekalert.org)
In one-fifth of all genetic diseases, according to the scientist, the protein structure doesn't appear to be damaged at all. (eurekalert.org)
Some genetic changes even affect intracellular protein transport through this process. (eurekalert.org)
RanGAP1 in turn helps move molecules through nuclear pores that serve as passageways in the nucleus, letting proteins and genetic material flow in and out of it. (hopkinsmedicine.org)
Autosomal Recessive Genetic disorders determined by a single gene (Mendelian disorders) are easiest to analyze and the most well understood. (msdmanuals.com)

I have expertise from gene characterization to protein engineering. (queensu.ca)
Advances in sequencing and genome analysis and in the associated information technology will accelerate the discovery and characterization of genes having potential utility. (science20.com)
Purification and characterization of two protein kinases acting on the aquaporin SoPIP2;1. (lu.se)

This gene belongs to the solute carrier 26 family, whose members encode anion transporter proteins. (wikipedia.org)
RS_01910 may encode a protein related to creatine transport. (frontiersin.org)
The Wnt genes encode secreted glycoprotein ligands that regulate a wide range of developmental processes, including axis elongation and segmentation. (biomedcentral.com)
1] "Two FK506 resistance-conferring genes in Saccharomyces cerevisiae, TAT1 and TAT2, encode amino acid permeases mediating tyrosine and tryptophan uptake. (tcdb.org)

At least two transcript variants encoding different isoforms have been found for this gene. (nih.gov)
Several alternatively spliced transcript variants of this gene, encoding distinct isoforms, have been described, but the full-length nature of some of these variants has not been determined. (wikipedia.org)
Nonetheless, the association signal primarily arises from de novo protein-truncating variants, as opposed to the more common missense variants. (springer.com)
Utilizing our previous interactome perturbation predictor, we identify a set of missense variants that are likely disruptive to protein-protein interactions. (springer.com)
Extending earlier work, we show that de novo missense variants that disrupt protein interactions are enriched in individuals with ASD, often affecting hub proteins and disrupting hub interactions. (springer.com)
The evidence, however, largely comes from protein-truncating variants (PTVs) as opposed to de novo missense (dnMis) variants. (springer.com)
The doctoral student did this by recreating 258 flexible protein regions in test tubes - both "healthy" variants as well as disease-related ones - and then adding human cell extracts. (eurekalert.org)
A collection of different allotypes or allelic protein variants, a new type of protein library. (genomicglossaries.com)
Diagnosis is by sweat test or identification of 2 cystic fibrosis-causing gene variants in patients with a positive newborn screening test result or characteristic clinical features. (msdmanuals.com)
The CFTR variants have been divided into 6 classes based on how the variant affects the function or processing of the CFTR protein. (msdmanuals.com)

The IFT140 gene provides instructions for making a protein that is involved in the formation and maintenance of cilia, which are microscopic, finger-like projections that stick out from the surface of cells and participate in signaling pathways that transmit information within and between cells. (medlineplus.gov)
10. Describe and categorize cellular signaling pathways, including the transfer of a stimulus across a cell membrane, and how the stimulus is propagated to its effector, it be an enzyme or one or several genes. (setur.fo)

During intraflagellar transport, cells use molecules called IFT particles to carry materials to and from the tips of cilia. (medlineplus.gov)
These proteins, which have similar structures, help transport molecules within cells. (medlineplus.gov)
Researchers believe that myosins use long filaments of actin as tracks along which to transport other molecules. (medlineplus.gov)
Myosin VIIA is also found in other parts of the retina, where it likely carries additional proteins and molecules that are important for vision. (medlineplus.gov)
The mutant gene makes RNA molecules that stick to a transport protein, RanGAP1. (hopkinsmedicine.org)
9. Examine and explain structure, functions and components of cellular membranes, including transport of molecules and ions across membranes and the importance of such transport in cell homeostasis and neuronal signaling. (setur.fo)

Some diseases are caused by specific changes (mutations) in a gene. (cdc.gov)
Gene therapy has been utilized successfully to repair or inactivate mutations in animal models of monogenic human diseases 19 as well as human in vitro cells 12 . (nature.com)
Selbach's team wanted to answer a basic question: How do defective genes cause diseases? (eurekalert.org)
Dr. Wilson's laboratory focuses on the development of gene transfer vectors and their application in the treatment of inherited and acquired diseases. (upenn.edu)
His research efforts and novel technology have contributed to successful clinical programs of in vivo gene therapy for rare monogenic diseases developed by other companies, including Glybera® for familial lipoprotein lipase deficiency (AAV1), Luxturna® for RPE65-mediated retinal dystrophy (AAV2), and Zolgensma® for spinal muscular atrophy (AAV9). (upenn.edu)
Dr. Wilson aims to expand gene therapy to also treat acquired diseases and other conditions, such as deploying AAV-based therapies to treat influenza (8) and central nervous system metastases located beyond the blood-brain barrier (9). (upenn.edu)
In the featured article published online on April 5 in Neuron , the researchers also conclude that potential treatments targeting the transport disruptions they identified in Huntington's disease neurons may also work for other neurodegenerative diseases, such as ALS and forms of dementia. (hopkinsmedicine.org)

RafK carries a C-terminal regulatory domain present in a subset of ATP-binding proteins that has been involved in both direct regulation of transporter activity (inducer exclusion) and transcription of transporter genes. (lu.se)
3. Describe regulation of proteins, chromatin structure and gene expression. (setur.fo)
Elucidate the structure, dynamics and functions of intrinsically disordered proteins and protein regions (IDPs/IDRs) and their biological regulation by Post-translational modifications. (upstate.edu)

Studies of the human proteome have enabled scientists to track protein synthesis, modification, and degradation over time and across different cell types. (cdc.gov)

Structure of monomeric full-length ARC sheds light on molecular flexibility, protein interactions, and functional modalities. (nih.gov)
Mutations in the IFT140 gene that cause Mainzer-Saldino syndrome may change the shape of the IFT140 protein or its interactions with other IFT proteins, likely impairing the assembly of IFT-A and the development or maintenance of cilia. (medlineplus.gov)
Heterogeneity of findings may be explained by gene-environment interactions (GxE), as it has been suggested that S-allele carriers are more reactive to psychosocial stress than L-allele homozygotes. (nih.gov)
For genes encoding the disrupted interactions, we evaluate their expression patterns across developing brains and within specific cell types, using both bulk and inferred cell-type-specific brain transcriptomes. (springer.com)
Finally, we integrate protein interactions and cell-type-specific co-expression networks together with published association data to implicate novel genes in ASD risk in a cell-type-specific manner. (springer.com)
Consistent with other studies, genes identified by disrupted protein interactions are expressed early in development and in excitatory and inhibitory neuronal lineages. (springer.com)
Disrupted protein interactions identify gene sets involved in risk for ASD. (springer.com)
These findings thus offer insights into the ecology of H. coerulea and suggest gene networks that may govern its interactions with its environment. (nature.com)
Many cellular processes are based on such interactions between proteins. (eurekalert.org)

Like RafK, the presence of DLDH also activated the expression of raf operon genes, as DLDH-negative pneumococci showed a significantly decreased expression of aga and rafEFG, but DLDH did not regulate rafK or the putative regulatory genes rafR and rafS. (lu.se)
Rapid and comprehensive analysis of putative proteinous allergens ( allergenome ) by applying such a proteomic strategy … With allergenomics, we can not only detect and assign the putative allergens (proteins specifically interacting with IgE antibodies in a patient's blood) in a short time, but also analyze the quantitative and qualitative change of the antigens, depending on the surroundings and environmental conditions of an allergenic causative. (genomicglossaries.com)

V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, and receptor-mediated endocytosis. (nih.gov)
Intracellular transport. (setur.fo)

Real-time quantitative PCR (RT-qPCR) analysis and sfGFP (superfolder green fluorescent protein) analysis reveal that AmtR directly and negatively regulates the transcription and expression of crn A, cre T, csh A, and hyu B. A growth test shows that C. glutamicum ATCC 14067 can use creatine or creatinine as a sole nitrogen source. (frontiersin.org)
TTC expansion mutation is to reduce expression of frataxin at the level of transcription ( 3 ), through the formation of heterochromatin and subsequent gene silencing ( 4 - 8 ). (frontiersin.org)

But appearances can be deceiving: "These so-called intrinsically disordered regions (IDRs) can snuggle up to other proteins as if they were soft pillows, thereby manipulate them. (eurekalert.org)

The encoded protein of this gene may assist in the V-ATPase-mediated acidification of neuroendocrine secretory granules. (nih.gov)

GO Annotations consist of four mandatory components: a gene product, a term from one of the three Gene Ontology (GO) controlled vocabularies ( Molecular Function , Biological Process , and Cellular Component ), a reference, and an evidence code. (yeastgenome.org)
Click "Gene Ontology Details" to view all GO information and evidence for this locus as well as biological processes it shares with other genes. (yeastgenome.org)
according to their Panther/Gene Ontology Classification. (thermofisher.com)

The following Rtp2 gene cDNA ORF clone sequences were retrieved from the NCBI Reference Sequence Database (RefSeq). (genscript.com)

By using antibodies with glowing markers that bind to specific proteins and viewing the neurons under the microscope, Grima saw that the mutant Huntingtin protein clumped up in the same location of the cell as abnormal clumps of RanGAP1, the nuclear transport protein. (hopkinsmedicine.org)

Annotation of Selaginella moellendorffii major intrinsic proteins and the evolution of the protein family in terrestrial plants. (lu.se)

Both genes are involved in transcriptional repression and we speculate their involvement in FXN gene silencing. (frontiersin.org)

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene. (jax.org)
Curated mutant alleles for the specified gene, listed alphabetically. (yeastgenome.org)
The ability of genes or alleles to affect the representation of the host organism in a biome is an operational definition for the "function" of the gene (in that context). (genomicglossaries.com)

Phenotype annotations for a gene are curated single mutant phenotypes that require an observable (e.g., "cell shape"), a qualifier (e.g., "abnormal"), a mutant type (e.g., null), strain background, and a reference. (yeastgenome.org)

It is caused by mutations of the gene coding for cystic fibrosis transmembrane conductance regulator (CFTR). (eurasiareview.com)
Treatment is supportive through aggressive multidisciplinary care along with small-molecule correctors and potentiators targeting the cystic fibrosis transmembrane conductance regulator protein defect. (msdmanuals.com)

Severe phenotype of ATP6AP1-CDG in two siblings with a novel mutation leading to a differential tissue-specific ATP6AP1 protein pattern, cellular oxidative stress and hepatic copper accumulation. (nih.gov)
When a cell is perturbed, it responds by altering expressing levels of specific proteins and adjusting cellular functions in response to the new environmental stimuli. (cdc.gov)
Using cellular disease models for ADTKD-SEC61A1, we identified an impaired protein transport of the renal secretory protein renin and a reduced abundance of regulatory calcium transporters, including SERCA2. (amrita.edu)
Malformed and contorted, the protein can no longer carry out its task in the cellular machinery and thus triggers the syndrome. (eurekalert.org)
But some of the mutated proteins completely lost this ability or bound to other proteins and thus disrupted the operation of the cellular machinery. (eurekalert.org)
The cellular apparatus involved in pinching off vesicles from the cell membranes and transporting them into the cell's interior via endocytosis is partially responsible for misrouting the Glut1 protein. (eurekalert.org)
Moreover, they suggest, laboratory experiments with drugs designed to clear up these cellular "traffic jams" restored normal transport in and out of the nucleus and saved the cells. (hopkinsmedicine.org)
This protein is believed to be involved in several important cellular functions involving protein production. (medlineplus.gov)
The human cellular prion protein (PrP C ) is a glycosylphosphatidylinositol (GPI) anchored membrane glycoprotein with two N-glycosylation sites at residues 181 and 197. (mdpi.com)
DAVID analysis also suggested treatment effects on oxygen transport, extra-cellular signaling, cell membrane structure and immune system function. (oregonstate.edu)

Here we report that antidiabetic thiazolidinediones (TZDs) and other ligands for the nuclear receptor PPARγ dramatically upregulate oxidized LDL receptor 1 (OLR1) in adipocytes by facilitating the exchange of coactivators for corepressors on the OLR1 gene in cultured mouse adipocytes. (jci.org)
Image analysis of the matched maps identified 7 proteins that were either over- or down-expressed: activated protein kinase c receptor (LACK), alpha tubulin (×2), prostaglandin f2-alpha synthase, protein disulfide isomerase, vesicular transport protein and a hypothetical protein. (who.int)

7] "A subset of membrane-associated proteins is ubiquitinated in response to mutations in the endoplasmic reticulum degradation machinery. (tcdb.org)
A subset of high quality and rare information, retrieved and organized by systematic literature- searching tools from existing databases, and related to a subset of genes functioning together in '-omic' sciences. (genomicglossaries.com)

Pneumococci lacking RafK showed a 50- to 80-fold reduction in expression of the raf operon genes aga (alpha-galactosidase) and rafEFG (raffinose substrate binding and permease genes), and both glucose and sucrose inhibited raffinose uptake through inducer exclusion. (lu.se)

New insights into the genome have led to the emergence of proteomics , the study of the structure and function of an individual's entire set of expressed proteins. (cdc.gov)
Proteomics is highly linked to genomics, since the blueprint for each protein is inscribed on an organism's genes. (cdc.gov)
Some challenges for translating proteomics include technical issues in measuring proteomic markers, identifying clinically useful markers in patient samples, the need for large sample sizes to be able to distinguish protein variability among samples, and challenges in implementing strict protocols for sample handling. (cdc.gov)
ABSTRACT In order to define the protein expressional changes related to the process of meglumine antimoniate resistance in anthroponotic cutaneous leishmaniasis (CL), we performed a comparative proteomics analysis on sensitive and resistant strains of Leishmania tropica isolated from Iranian CL patients. (who.int)
The study shows the usefulness of proteomics in identifying proteins that may express differences between sensitive and resistant L. tropica isolates. (who.int)

In 2014, scientists developed a draft map of the human proteome , which catalogued proteins encoded by over 17,000 human genes, or about 84% of all protein-coding genes in the human genome. (cdc.gov)
Lentiviral (LV) vectors of the Retroviridae family show interesting properties for monogenic gene therapy, since they integrate into the host genome and allow long-lasting gene expression 22 . (nature.com)
While studying mice that had the KCNE2 gene removed from their genome, the researchers observed that the animals developed symptoms of hypothyroidism, especially during pregnancy, and gave birth to pups with dwarfism, alopecia (baldness) and cardiomegaly (enlarged heart). (sciencedaily.com)
A deep gene duplication, which coincided with a whole-genome duplication, gave rise to two gene lineages. (lu.se)

Histone acetyltransferases (HATs), histone methyltransferases and histone deacetylases (HDACs) and histone demethylases that modify histone proteins. (edu.au)
Histone post-translational modifications near the expanded repeats are consistent with heterochromatin formation and consequent FXN gene silencing. (frontiersin.org)
By interrogating microarray data from neuronal cells treated with inhibitors of different specificity, we selected two genes encoding histone macroH2A ( H2AFY2 ) and Polycomb group ring finger 2 ( PCGF2 ) that were specifically down-regulated by the inhibitors targeting HDACs1 and 3 versus the more selective inhibitors for further investigation. (frontiersin.org)

Drugs can be created based on how the mutation affects the protein, and these drugs will only work for a specific type of mutation. (cdc.gov)
Within the Glut1 gene there are many places where a mutation can disrupt the Glut1 protein's three-dimensional structure, leading to loss of function. (eurekalert.org)
In such cases, she says, the mutation occurs in flexible loops in the proteins, which until recently were thought to have no function because they lack a defined structure. (eurekalert.org)
An example is a mutation in the gene for the Glut1 protein that causes two specific building blocks of protein, namely leucines, to lie next to one another, creating a so-called dileucine motif. (eurekalert.org)
Could it be that in people affected by this mutation the Glut1 protein is not defective but has instead ended up in the wrong place in the cell? (eurekalert.org)
She searched databases and found a patient with Glut1 deficiency syndrome in whom the protein region contained a mutation creating the dileucine motif. (eurekalert.org)
In 2015, Rothstein's team found out how a mutation in a gene - implicated in 40 percent of inherited ALS cases and 25 percent of inherited frontotemporal dementia cases - gums up transport in and out of the nucleus in neurons, ultimately shutting the cell down and leading to its death. (hopkinsmedicine.org)
Huntington's disease is caused by a mutation in the Huntingtin protein, resulting in too many repeats of the amino acid glutamine in the protein's sequence, making the protein sticky and clumpy. (hopkinsmedicine.org)

Meyer was able to confirm her hypothesis: When she blocked this process, the Glut1 protein found its way back to the cell surface and resumed glucose uptake. (eurekalert.org)
Increased OLR1 expression, resulting either from TZD treatment or adenoviral gene delivery, significantly augments adipocyte cholesterol content and enhances fatty acid uptake. (jci.org)
Aquaporin-9 Protein Is the Primary Route of Hepatocyte Glycerol Uptake for Glycerol Gluconeogenesis in Mice. (lu.se)

The protein encoded by this gene is one of at least two lipid transfer proteins found in human plasma. (nih.gov)
The disrupted mouse gene is Slc27a4 (solute carrier family 27 [fatty acid transporter], member 4), ortholog of human SLC27A4. (mmrrc.org)
For example, the rhesus isolate AAV8 has shown improved gene transfer to liver, muscle, and photoreceptors (1, 4) whereas the human isolate AAV9 is capable of crossing endothelial and blood-brain barriers that enable it to target the heart and central nervous system (5, 6). (upenn.edu)
Novel adeno-associated viruses from rhesus monkeys as vectors for human gene therapy. (upenn.edu)
Grima used two mouse models of Huntington's disease: one with a human version of the mutant Huntingtin protein and another with an aggressive form of the disease that contains only the first portion of the mouse Huntingtin protein. (hopkinsmedicine.org)
Identification and structural analysis of human RBM8A and RBM8B: two highly conserved RNA-binding motif proteins that interact with OVCA1, a candidate tumor suppressor. (medlineplus.gov)
The authors' findings, published online this week by the peer-reviewed journal Nature Medicine , suggest that mutations of either of two gene products -- proteins called KCNE2 and KCNQ1 -- already known to be involved in human cardiac arrhythmias, could also cause thyroid dysfunction. (sciencedaily.com)
While we have identified KCNQ1 and KCNE2 in both mouse and human thyroid, much additional work is required before we can fully understand how inherited mutations in the genes coding these proteins affect human thyroid function, how this in turn influences the health of human heart and other tissues, and how useful our discoveries will be in developing therapies to treat thyroid and thyroid-related human disease," explains Dr. Abbott. (sciencedaily.com)

They cause the Glut1 protein to lose its function in the cell membrane: the protein no longer transports glucose from the blood into the brain. (eurekalert.org)
In tests on cell cultures Meyer showed that the mutated Glut1 protein was no longer present on the cell surface, where it takes up glucose. (eurekalert.org)

Because the proteome is a continuously changing set of proteins that differs from cell to cell, it is challenging for scientists to capture and study it. (cdc.gov)

CFTR is an ion transport protein that plays an important role in keeping mucus fluid - when it fails, the mucus clogs up. (eurasiareview.com)
CFTR is a cyclic adenosine monophosphate (cAMP)-regulated chloride channel, regulating chloride, sodium, and bicarbonate transport across epithelial membranes. (msdmanuals.com)

The next step involved using mass spectrometry to determine which proteins interact with the artificial proteins. (eurekalert.org)
11] "Analysis of phosphorylation sites on proteins from Saccharomyces cerevisiae by electron transfer dissociation (ETD) mass spectrometry. (tcdb.org)
Cell proteins were analysed with 2-dimensional electrophoresis and differentially expressed proteins were identified by matrix-assisted laser desorption/ ionization time-of-flight mass spectrometry. (who.int)

Most of the mutations that cause DFNA11 alter a single protein building block (amino acid) in myosin VIIA, resulting in an abnormal protein that does not work properly. (medlineplus.gov)
RBM8A gene mutations that cause TAR syndrome reduce the amount of RNA-binding motif protein 8A in cells. (medlineplus.gov)

tumor suppressor genes. (upstate.edu)

Using inferred gene co-expression for three neuronal cell types-excitatory, inhibitory, and neural progenitor-we implicate several hundred genes in risk (FDR \(\le \hspace{0.17em}\) 0.05), ~ 60% novel, with characteristics of genuine ASD genes. (springer.com)
Across cell types, these genes affect neuronal morphogenesis and neuronal communication, while neural progenitor cells show strong enrichment for development of the limbic system. (springer.com)

PhosphoLipid transfer protein (PLTP) exerts a direct pro-inflammatory effect on rheumatoid arthritis (RA) fibroblasts-like-synoviocytes (FLS) independently of its lipid transfer activity. (nih.gov)
Solute transport on the sub 100 ms scale across the lipid bilayer membrane of individual proteoliposomes. (lu.se)

Using the newly released and larger ASC dataset, we confirm these observations and take them in several new directions: (1) By defining a set of genes encoding these disrupted protein interactors in ASD subjects and another for their siblings, we evaluate their expression patterns in developing brain from fetal to early postnatal development and within general cell types of brain tissue. (springer.com)
The extensive but relatively balanced history of duplications and losses, together with paralog-specific expression patterns, suggest diatoms continuously balance gene dosage and expression dynamics to optimize silicon transport across major environmental gradients. (lu.se)

All this is controlled by hormones, genes and proteins so that the plant can function as an individual. (lu.se)

Gluten is difficult to digest, so that relatively long protein parts - peptides - enter the intestine. (eurasiareview.com)

All recognized mutations for AD are associated with increased deposition of amyloid-beta (Abeta), a peptide fragment comprising 39-43 amino acids that derive from the catabolism of the amyloid precursor protein (APP) molecule. (medscape.com)
A protein consists of one or more chains of amino acids (called polypeptides) whose sequence is encoded in a gene. (genome.gov)

Ocular albinism type I is an X-linked disorder associated with the OA1 gene. (medscape.com)
Ocular albinism type I is an X-linked disorder related to defects in the OA1 gene. (medscape.com)
Finally, although not as attenuated as DLDH-negative bacteria, pneumococci lacking RafK were significantly outcompeted by wild-type bacteria in colonization experiments of murine lung and nasopharynx, indicating a role for raffinose and stachyose transport in vivo. (lu.se)
We alter the deficiency by infecting the SFTPB deficient iPSCs with a lentivirus carrying the wild type SFTPB gene. (nature.com)
More than 200 mutations in the MYO7A gene have been identified in people with Usher syndrome type I, which is characterized by a combination of hearing loss, vision loss, and problems with balance and coordination. (medlineplus.gov)
Specifically, MYO7A gene mutations cause a form of the disorder known as Usher syndrome type IB (USH1B), which accounts for more than half of all cases of Usher syndrome type I. (medlineplus.gov)
Type II collagen is a primary matrix protein of physeal and epiphyseal cartilage. (medscape.com)
Numerous factors shape the evolution of protein-coding genes, including shifts in the strength or type of selection following gene duplications or changes in the environment. (lu.se)

It has paved the way for studying how genes regulate the most basic functions of the cell, including what proteins to produce and how to make them. (cdc.gov)

These sequences represent the protein coding region of the Rtp2 cDNA ORF which is encoded by the open reading frame (ORF) sequence. (genscript.com)
GenScript guarantees 100% sequence accuracy of all synthetic DNA constructs we deliver, but we do not guarantee protein expression in your experimental system. (genscript.com)
Basic sequence-derived (length, molecular weight, isoelectric point) and experimentally-determined (median abundance, median absolute deviation) protein information. (yeastgenome.org)
Click "Protein Details" for further information about the protein such as half-life, abundance, domains, domains shared with other proteins, protein sequence retrieval for various strains, physico-chemical properties, protein modification sites, and external identifiers for the protein. (yeastgenome.org)
It is the sequence of bases that makes the instructions within genes. (edu.au)

Multiple hnRNP K protein isoforms exist due to alternative splicing and display different nucleic-acid-binding properties. (bvsalud.org)

The turnover of proteins is one of the cell's most essential processes and is necessary for responding to external stimuli and for maintaining homeostasis . (cdc.gov)
Meyer therefore began by looking into which of the cell's proteins come into contact with flexible mutated protein regions. (eurekalert.org)
The protein was instead in the cell's interior as if it had gotten lost. (eurekalert.org)

Solute carrier family 26 member 6 is a protein that in humans is encoded by the SLC26A6 gene. (wikipedia.org)

Search on a gene symbol or gene name keyword(s). (jax.org)

5. Give a basic overview of methods used in analyzing genes and genomes. (setur.fo)
8. Examine and discuss evolution of genes and genomes at basic levels. (setur.fo)
We compiled SITs from 37 diatom genomes to characterize shifts in selection following gene duplications and marine- freshwater transitions. (lu.se)

Targeted or gene trap mutations are generated in strain 129/SvEvBrd-derived embryonic stem (ES) cells. (mmrrc.org)

Additionally, he realized that other researchers previously showed that mutations in the nuclear pore protein NUP62 caused Huntington's disease-like pathology. (hopkinsmedicine.org)

It resides in the membrane of the endoplasmic reticulum to channel two types of cargo: protein substrates and calcium ions. (amrita.edu)
These effects may induce transient membrane permeabilization (sonoporation) on a single cell level, cell death, and disruption of tissue structure, ensuring noninvasive, targeted, and efficient drug/gene delivery and therapy. (hindawi.com)
Affinity tags can reduce merohedral twinning of membrane protein crystals. (lu.se)

Myosins interact with actin, a protein that is important for cell movement and shape. (medlineplus.gov)

By cataloguing the molecular processes by which cells maintain and modify protein levels, proteomic studies offer another dimension of information that may help advance our understanding of health and disease. (cdc.gov)
Treatment with the molecular chaperone phenylbutyrate reversed the defective protein transport of renin and the imbalanced calcium homeostasis. (amrita.edu)
As a novel theranostic system, nanocarriers hold great promise for ultrasound molecular imaging, targeted drug/gene delivery, and therapy. (hindawi.com)
The main aim of our research is to understand the molecular details and physiological roles of the multitude of water channel-like proteins present in plants and animals. (lu.se)

Anatomy35

Organisms13

Diseases1

Chemicals and Drugs103

Analytical, Diagnostic and Therapeutic Techniques and Equipment24

Phenomena and Processes56

Disciplines and Occupations4

Technology, Industry, Agriculture2

Information Science21

Health Care2

Genomic3

Subunit5

MRNA9

Encodes4

Chromosome8

Genetic11

Characterization3

Encode4

Variants10

Pathways2

Molecules6

Diseases7

Regulation3

Synthesis1

Interactions9

Putative2

Intracellular2

Transcription2

Intrinsically disordered1

ATPase1

Ontology3

RefSeq1

Antibodies1

Annotation1

Transcriptional1

Alleles3

Phenotypes1

Cystic fibrosis2

Cellular10

Receptor2

Subset2

Permease1

Proteomics5

Genome4

Histone3

Mutation8

Uptake3

Human8

Glucose2

Proteome1

CFTR2

Mass spectrometry3

Mutations that cause2

Tumor1

Neuronal2

Lipid2

Expression patterns2

Hormones1

Peptides1

Amino acids2

Type8

Regulate1

Sequence5

Isoforms1

Cell's3

Solute carrie1

Symbol1

Genomes3

Strain1

Pathology1

Membrane3

Interact1

Molecular4