• Mutations in the gene for the antennapedia homeodomain protein are associated with the conversion of antenna to leg or leg to antenna DROSOPHILA. (lookformedical.com)
  • Their sequences contain a 180 nucleotide sequence designated the homeobox, so called because mutations of these genes often results in homeotic transformations, in which one body structure replaces another. (lookformedical.com)
  • 12] These errors, mutations, can affect an organism's phenotype, especially if they occur within the protein coding sequence of a gene. (mercinewyork.com)
  • The genetic code is universal i.e. [39] In large populations of asexually reproducing organisms, for example, E. coli, multiple beneficial mutations may co-occur. (mercinewyork.com)
  • For more about the way gene mutations cause BMD, see Causes/Inheritance . (mda.org)
  • Based on these previous analyses and clinical findings, CLRN1 was directly sequenced in 17 patients susceptible to carrying mutations in this gene. (molvis.org)
  • Scope includes mutations and abnormal protein expression. (cancerindex.org)
  • Solute carrier family 66 member 3 is a gene in humans that encodes the protein SLC66A3. (wikipedia.org)
  • This gene encodes a member of the cysteine-aspartic acid protease (caspase) family. (cancerindex.org)
  • This gene encodes an ubiquitously expressed, cytosolic form of TrxR, which functions as a homodimer containing FAD, and selenocysteine (Sec) at the active site. (cancerindex.org)
  • A pseudogene of this gene has been defined on chromosome 1. (nih.gov)
  • BMD occurs when the dystrophin protein that's made from a particular gene on the X chromosome is only partially functional. (mda.org)
  • Detailed mapping suggests that haploinsufficiency of one or more genes in Xp22.3, the distal 8.3 megabases (Mb) of the X chromosome, is responsible for a TS neurocognitive phenotype. (biomedcentral.com)
  • The genetic abnormality in TS is determined by the absence of one copy of genes on the X chromosome. (biomedcentral.com)
  • Although one X chromosome undergoes inactivation in normal females during early embryogenesis, about 15% of all X chromosome genes, mostly situated on the short arm (Xp), remain active to some degree on both X chromosomes [ 17 ]. (biomedcentral.com)
  • These unusual ORFs are maternally inherited, and effectively translated into novel mitochondrial proteins, with the resulting failure to produce functional pollen as the sole observed phenotype ( Chen and Liu, 2014 ). (frontiersin.org)
  • SLC66A3 has 14 different mRNAs, there are 12 alternatively-spliced mRNAs that produce functional proteins and 2 unspliced variations that do not. (wikipedia.org)
  • The male sterilizing factors are produced by recombination of the mitochondrial genome and consist of unusual genes or open reading frames (ORFs) that usually contain a portion of functional mitochondrial genes and sequences of unknown origin ( Hanson and Bentolila, 2004 ). (frontiersin.org)
  • The phenotype of Bard1 null mice was found to be remarkably similar to that of Brca1 nulls, further emphasising the functional relationship between these two proteins. (bmj.com)
  • Exosomal markers include microRNAs like miR-21 and miR-141, plus various proteins that belong in functional groups such as tetraspanins (CD9, CD63 and CD81), heat shock proteins (Hsp70, Hsp73 and Hsp90) and membrane transporters (GTPases) ( 4 ). (spandidos-publications.com)
  • Some of these genes have functional Y-linked homologs that are thought to balance their dosage between males and females. (biomedcentral.com)
  • Do not confuse with NUCLEOPROTEINS which are proteins conjugated with nucleic acids, that are not necessarily present in the nucleus. (lookformedical.com)
  • Full length human recombinant protein of human KIF2C produced in HEK293T cell. (thermofisher.com)
  • BL21 (DE3) were induced to express the recombinant protein. (biomedcentral.com)
  • The results showed that the molecular weight of the obtained NMU recombinant protein was consistent with the expected molecular (13 kDa) and it was expressed in the form of inclusion body. (biomedcentral.com)
  • Glycoconjugate synthesis, in particular expression of oligosaccharyltransferase PglB, strongly inhibited growth of E. coli cells after induction, making it necessary to separate biomass growth and recombinant protein expression phases. (biomedcentral.com)
  • The mRNA transcript variant 1 is 1,717 bp with 7 exons and produces the longest protein, transcript variant 1. (wikipedia.org)
  • It is typically discussed using the "codons" found in mRNA, as mRNA is the messenger that carries information from the DNA to the site of protein synthesis. (mercinewyork.com)
  • These vesicles are carriers of active or non-autonomous function biomolecules, such as proteins, lipids, DNA, mRNA and non-coding regulatory RNA. (spandidos-publications.com)
  • We found that TRIM13 mRNA and protein expression was reduced in NSCLC tissues and cell lines in comparison to paired non-cancerous tissues and a human normal bronchial epithelial cell line, respectively. (cancerindex.org)
  • Expression of mouse zonadhesin mRNA is evident only within the testis, and the protein is found exclusively on the apical region of the sperm head. (embl.de)
  • Total 38 nucleotides and 36 proteins sequences of linA and linB were used for constructing the phylogeny. (ispub.com)
  • It is takes more than hundred thousand generations to alter gene sequences however Mr. Trivedi was able to do it within a period of a few days. (oregonstate.edu)
  • Genes that encode highly conserved TRANSCRIPTION FACTORS that control positional identity of cells (BODY PATTERNING) and MORPHOGENESIS throughout development. (lookformedical.com)
  • Mainly, two genes linA and linB encode dehydrochlorinase and dehalogenase enzymes involved in degradation of HCH. (ispub.com)
  • The function of the SLC66A3 protein is not yet well understood but belongs to a family of five evolutionarily related proteins, the SLC66 lysosomal amino acid transporters. (wikipedia.org)
  • SLC66A3 is a 202 amino acid, 22.6 kDa protein with a theoretical isoelectric point of 9.14. (wikipedia.org)
  • PPR proteins have in common a canonical P-type 35 amino acid domain repeated in tandem up to 30 times. (frontiersin.org)
  • The genetic code is so well-structured for hydropathicity that a mathematical analysis (Singular Value Decomposition) of 12 variables (4 nucleotides x 3 positions) yields a remarkable correlation (C = 0.95) for predicting the hydropathicity of the encoded amino acid directly from the triplet nucleotide sequence, without translation. (mercinewyork.com)
  • The resulting amino acid probabilities for each codon are displayed in a genetic code logo, that also shows the support for a stop codon. (mercinewyork.com)
  • The main splice variant is composed of three exons that code for a 232 amino acid protein, clarin 1. (molvis.org)
  • This study also identified 43 growth-impairing inserts carrying multiple loci targeting 105 genes, of which 25 have homologs reported as essential in other bacteria. (biomedcentral.com)
  • biodegradable enzymes present in the genes of some bacteria degrade HCH in soil. (ispub.com)
  • Bioinformatics strategies were used to find other homologous genes and proteins, which can also degrade HCH present in various bacteria for controlling of pollution and offer clue to prevent its entry in the food chain. (ispub.com)
  • PCR using the new primer pair on a set of template DNAs of different bacterial genera showed that the method was selective for bacteria belonging to the family Sphingomonadaceae . (ispub.com)
  • N. meningitidis is transmitted from person to person, and close contact with a healthy carrier can facilitate the spread of the bacteria to susceptible individuals. (bmj.com)
  • This energy was also observed to impact bacterial sensitivity to antibiotics and cause DNA polymorphism by 69% in crops and 79% in bacteria without introducing any foreign genes. (oregonstate.edu)
  • Strains belonging to the same species had identical DGGE fingerprints, and in most cases, these fingerprints were typical for one species. (ispub.com)
  • Molecular evaluation revealed a degree of similarity among strains belonging to the same clonal complex. (bmj.com)
  • West African sub-region with consideration of the mented RNA virus belonging to the Arenaviridae origin of the virus, its properties/strains, epidemiol- family. (folkhalsomyndigheten.se)
  • 6, 7 BRCA1 interacts with a variety of proteins and is involved in multiple cellular processes including DNA repair, transcription, and checkpoint control. (bmj.com)
  • One end is specialized for linking to the muscle interior, and the other end for linking to a variety of proteins at the cell membrane. (mda.org)
  • The PPR protein family is consequently divided in subfamilies depending on the number and type of repeats present in their sequence as well as optional C-terminal domains. (frontiersin.org)
  • BARD1, unlike BRCA1, also contains a centrally located sequence of three ankyrin repeats 11 that are found in many proteins involved in transcriptional regulation. (bmj.com)
  • Multilocus sequence typing analysis identified 29 sequence types belonging to 12 clonal complexes. (bmj.com)
  • a: oligosaccharyltransferase PglB, b: carrier protein with signal sequence for secretion to the periplasm, c: undecaprenyl-pyrophosphate-linked polysaccharides. (biomedcentral.com)
  • Gene Ontology analysis revealed a strong enrichment in proteins with DNA binding and/or transcription-regulatory properties. (sdbonline.org)
  • Several other genetic backgrounds result in enlargement of the haltere significantly beyond the normal range of haploinsufficient phenotypes, suggesting genetic variation in cofactors that mediate homeotic protein function. (lookformedical.com)
  • Long non-coding RNA CASP5 promotes the malignant phenotypes of human glioblastoma multiforme. (cancerindex.org)
  • Genetic changes happen when a particular gene develops a mutation. (psomagen.com)
  • The most common mutation responsible for pancreatic cancer is the KRAS gene . (psomagen.com)
  • In 1986, MDA-supported researchers identified the gene that, when flawed - a problem known as a mutation - causes DMD and BMD. (mda.org)
  • For example, in Timothy Syndrome the mutation in the gene produces too much of the protein, in this case the L-type calcium channel Cav1.2. (epiphanyasd.com)
  • In this syndrome Nav1.8 is over expressed as a downstream consequence of a mutation in the TCF4 gene. (epiphanyasd.com)
  • They function as carriers to the cell surface in post-golgi recycling pathways. (nih.gov)
  • These findings suggest that these protein family members may function at the same site during vesicular transport rather than in separate pathways. (nih.gov)
  • The discovery of novel essential genes or pathways that have not yet been targeted by clinical antibiotics can underlie the development of alternative effective antibacterials to overcome existing mechanisms of resistance. (biomedcentral.com)
  • What pathways are this gene/protein implicaed in? (cancerindex.org)
  • We confirmed host phylogeny using the sequencing method and analyzed the influence of host phylogeny and bioclimatic zone parameters on the rodent gut microbiome using high-throughput amplicon sequencing of 16S rRNA gene fragments. (microbial-ecology.net)
  • Many different transcription factors regulate the expression of the SLC66A3 gene. (wikipedia.org)
  • Positive Expression of Retinol-Binding Protein 4 Is Related to the Malignant Clinical Features Leading to Poor Prognosis of Glioblastoma. (nih.gov)
  • Homeodomain proteins are involved in the control of gene expression during morphogenesis and development (GENE EXPRESSION REGULATION, DEVELOPMENTAL). (lookformedical.com)
  • To also target low expressed essential genes, we included some variant steps that were expected to overcome the non-stringent regulation of the promoter carried by the expression vector used for the shotgun antisense libraries. (biomedcentral.com)
  • For the first time in P. aeruginosa , we applied regulated antisense RNA expression and showed the feasibility of this technology for the identification of novel essential genes. (biomedcentral.com)
  • The soluble domain of AniA (sAniA) protein expression by western blotting was also evaluated. (bmj.com)
  • The clarin 1 protein is thought to be expressed in mouse cochlea transiently from embryonic day 18 (E18) to postnatal day 6 (P6) in basal parts of the hair cells, whereas in apical parts (stereocilia) clarin 1 expression is lost already at P1. (molvis.org)
  • The expression of this gene is regulated by interferon-gamma and lipopolysaccharide. (cancerindex.org)
  • Search the gene expression profiles from curated DataSets in the Gene Expression Omnibus (GEO) repository. (cancerindex.org)
  • It was found that efficiency of glycosylation but not carrier protein expression was highly susceptible to the physiological state at induction. (biomedcentral.com)
  • A deficiency of vitamin A blocks secretion of the binding protein posttranslationally and results in defective delivery and supply to the epidermal cells. (nih.gov)
  • Proteins encoded by homeobox genes (GENES, HOMEOBOX) that exhibit structural similarity to certain prokaryotic and eukaryotic DNA-binding proteins. (lookformedical.com)
  • This protein family is largely expanded in land plant genomes. (frontiersin.org)
  • and 16 were "novel" essential genes with no homologs reported to have an essential role in other bacterial species. (biomedcentral.com)
  • Whole-genome transposon-mutagenesis (TM) followed by identification of insertion sites is one of the most practical and frequently used experimental approaches to screen for essential bacterial genes [ 6 - 8 ]. (biomedcentral.com)
  • Conjugate vaccines in which polysaccharide antigens are covalently linked to carrier proteins belong to the most effective and safest vaccines against bacterial pathogens. (biomedcentral.com)
  • Species diversity in the structure of zonadhesin, a sperm-specific membrane protein containing multiple cell adhesion molecule-like domains. (embl.de)
  • Any of the processes by which nuclear, cytoplasmic, or intercellular factors influence the differential control of gene action during the developmental stages of an organism. (lookformedical.com)
  • Some of these include RNA polymerase II transcription factor II B, Myc associated zinc fingers, EGR/nerve growth factor induced protein C & related factors, and EVI1-myeloid transforming protein. (wikipedia.org)
  • Endogenous substances, usually proteins, which are effective in the initiation, stimulation, or termination of the genetic transcription process. (lookformedical.com)
  • Triplet code AAA in DNA during transcription is changed into UUU code of RNA. (mercinewyork.com)
  • Everything in our cells is ultimately built based on the genetic code. (mercinewyork.com)
  • The genetic code is of two types. (mercinewyork.com)
  • Under this hypothesis, any model for the emergence of the genetic code is intimately related to a model of the transfer from ribozymes (RNA enzymes) to proteins as the principal enzymes in cells. (mercinewyork.com)
  • In this way the information contained in the DNA is transformed into all of the materials of life, using the genetic code! (mercinewyork.com)
  • Optimality: the genetic code continued to evolve after its initial creation, so that the current code maximizes some, Chemical principles govern specific RNA interaction with amino acids. (mercinewyork.com)
  • The genetic code can be expressed as either RNA codons or DNA codons. (mercinewyork.com)
  • To identify the genetic defect in Spanish families with Usher syndrome (USH) and probable involvement of the CLRN1 gene. (molvis.org)
  • Think of mice with sizable pieces of genetic code that originated from the human genome, used in cancer and pharmaceutical research, or pigs with a human heart, that are grown for medical applications. (demul.nl)
  • Like other arenaviruses, Lassa virus lacks a ogy and clinical presentation, treatment, prevention conventional negative-strand coding arrangement and control as well as the current theories of its patho- and the isolates of the virus differ in their genetic, genesis and efforts in vaccine development. (folkhalsomyndigheten.se)
  • These are the same genes commonly associated with breast cancer and ovarian cancers. (psomagen.com)
  • Approximately 5-10% of all breast and ovarian cancers are thought to arise from a hereditary predisposition to the disease, 1 BRCA1 and BRCA2 being the most important susceptibility genes. (bmj.com)
  • 8- 10 In attempts to identify new breast and ovarian cancer susceptibility genes, much research has focused on BRCA1 associated proteins. (bmj.com)
  • The longest transcript is transcript variant 1 which produces the longest protein at 202 amino acids in length. (wikipedia.org)
  • Alternatively spliced transcript variants have been identified for this gene. (cancerindex.org)
  • Proteins that originate from insect species belonging to the genus DROSOPHILA. (lookformedical.com)
  • The proteins from the most intensely studied species of Drosophila, DROSOPHILA MELANOGASTER, are the subject of much interest in the area of MORPHOGENESIS and development. (lookformedical.com)
  • A pig sperm protein that binds to the extracellular matrix of the egg in a species-specific manner was recently identified and named zonadhesin (Hardy, D. M., and Garbers, D. L. (1995) J. Biol. (embl.de)
  • PPR proteins represent the most frequent protein class among identified Rfs and they exhibit ideal characteristics to evolve into restorer of fertility when the mechanism of restoration implies a post-transcriptional action. (frontiersin.org)
  • CMS can be suppressed by specific nuclear genes called restorers of fertility ( Rf s). (frontiersin.org)
  • CMS can be suppressed by specific nuclear genes called restorers of fertility ( Rf ), which restore partial to normal pollen production to plants carrying a corresponding CMS-inducing cytoplasm. (frontiersin.org)
  • The transport of molecules between the nucleus and the cytoplasm in eukaryotic cells is mediated by the nuclear pore complex (NPC), which consists of 60-100 proteins. (thermofisher.com)
  • The protein encoded by this gene belongs to the importin alpha family, and is involved in nuclear protein import. (thermofisher.com)
  • This doesn't matter in RNA, since new RNA copies can be produced from DNA at any time, and most RNA molecules are intentionally destroyed by the cell a short time after they're produced so that the cell does not waste resources producing unneeded proteins from old RNA molecules. (mercinewyork.com)
  • Antibiotics in current use target a surprisingly small number of cellular functions: cell wall, DNA, RNA, and protein biosynthesis. (biomedcentral.com)
  • Women can be carriers but usually exhibit no symptoms. (mda.org)
  • About 98% of estradiol is bound to transport proteins (SHBG and albumin). (cdc.gov)
  • 11 The functionally important BARD1/BRCA1 heterodimer formation is mediated by the RING finger motifs and has also been shown to markedly increase the stability of both proteins. (bmj.com)
  • Different family members are highly related products of distinct genes, and are usually expressed together. (nih.gov)
  • This protein belongs to the lipocalin family and is the specific carrier for retinol (vitamin A alcohol) in the blood. (nih.gov)
  • The family includes proteins which bind to both double- and single-stranded DNA and also includes specific DNA binding proteins in serum which can be used as markers for malignant diseases. (lookformedical.com)
  • The Bcl-2 homology 3 (BH3) domain is crucial for the death-inducing and dimerization properties of pro-apoptotic members of the Bcl-2 protein family, including Bak, Bax, and Bad. (lookformedical.com)
  • The protein encoded by this gene belongs to the pyridine nucleotide-disulfide oxidoreductase family, and is a member of the thioredoxin (Trx) system. (cancerindex.org)
  • The male sterilizing factors usually consist of unusual genes or open reading frames encoded by the mitochondrial genome. (frontiersin.org)
  • 11 Both proteins possess an N-terminal RING finger motif and two BRCA1 C-terminal (BRCT) domains present in numerous proteins involved in DNA repair and cell cycle regulation. (bmj.com)
  • Exosomes are one of the most researched classes of extracellular vesicles because they are carriers of targeted protein and DNA/RNA loads. (spandidos-publications.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)
  • Mantle cell lymphoma belongs to a group of diseases known as non-Hodgkin's lymphomas, which are related malignancies (cancers) that affect the lymphatic system. (rarediseases.org)
  • The SLC66A3 protein coding gene that produces a protein with the same name. (wikipedia.org)
  • For example, even if comprehensive insertion libraries are produced, it is inevitable that some genes, especially the shortest ones, could elude insertion and be spuriously annotated as essential, while transposon insertions that occur at gene ends and do not fully inactivate the function could lead to genes being incorrectly classified as non-essential. (biomedcentral.com)
  • The repeated spectrin units in the middle of the protein play an important role in linking the two ends, but the protein can still function (albeit not perfectly) with fewer of them than normal. (mda.org)
  • The dystrophin protein keeps the muscle cell membrane from breaking or tearing when our muscles contract and relax. (mda.org)
  • Because it connects the center of the muscle cell to the periphery, the dystrophin protein is extremely long. (mda.org)
  • Among the major strategies are gene replacement, gene modification, stem cell use, inhibiting a protein called myostatin, expanding the distribution and increasing the level of a protein called utrophin, and increasing blood flow to muscles. (mda.org)
  • Tripartite Motif Containing 13 (TRIM13), a member of TRIM proteins, is deleted in multiple tumor types, especially in B-cell chronic lymphocytic leukemia and multiple myeloma. (cancerindex.org)
  • However, it is useful for us, as scientists belonging to a common research group, to reflect over these issues and provide answers that can guide us in our own planning. (lu.se)
  • Interplay of retinol binding protein 4 with obesity and associated chronic alterations (Review). (nih.gov)
  • Biochimica et Biophysica Acta (BBA) - Gene Regulatory Mechanisms. (wikipedia.org)
  • The relationship between NAFLD and retinol-binding protein 4 - an updated systematic review and meta-analysis. (nih.gov)
  • To use this carrier-free antibody for conjugation experiments, we strongly recommend performing another round of desalting. (thermofisher.com)
  • The carrier-free buffer and high concentration allow for increased conjugation efficiency. (abcam.com)
  • There are 25698 VWD domains in 12416 proteins in SMART's nrdb database. (embl.de)
  • We previously reported evidence that this phenotype results from haploinsufficiency of one or more genes on distal Xp. (biomedcentral.com)