NF2/Merlin and Neurofibromatosis 2
... • NF is the most common neurological disorder caused by a single gene. • It is subdivided into two distinct types: NF1 and NF2, which are caused by different genes on different chromosomes. • NF1 is more common, affecting 1:4,000 births throughout the world; while NF2 affects about 1:40,000 people w ...
... • NF is the most common neurological disorder caused by a single gene. • It is subdivided into two distinct types: NF1 and NF2, which are caused by different genes on different chromosomes. • NF1 is more common, affecting 1:4,000 births throughout the world; while NF2 affects about 1:40,000 people w ...
Odorant binding proteins and olfactory receptors
... For many of us the five senses have been of philosophical and scientific interest for as long as we can remember. Through our senses we are able to interact with our environment and respond to cues which, most of the time, are not visible to our consciousness. Unlike touch, vision and hearing; taste ...
... For many of us the five senses have been of philosophical and scientific interest for as long as we can remember. Through our senses we are able to interact with our environment and respond to cues which, most of the time, are not visible to our consciousness. Unlike touch, vision and hearing; taste ...
F factor conjugation is a true type IV secretion system
... C-terminal domain of TraG, TraN and TraU. F-pilin subunits are stored as a pool in the inner membrane prior to assembly on the cell surface [43]. Pili are assembled by addition of pilin subunits to the base of the pilus, as demonstrated by H-pili of R27 [44]. In response to contact with a suitable r ...
... C-terminal domain of TraG, TraN and TraU. F-pilin subunits are stored as a pool in the inner membrane prior to assembly on the cell surface [43]. Pili are assembled by addition of pilin subunits to the base of the pilus, as demonstrated by H-pili of R27 [44]. In response to contact with a suitable r ...
Gaining biological specificity in gene set analysis by correcting for
... From the GE data we calculate a statistic z for each gene For each gene set S, we calculate a statistic TS that is a function of the z-scores. Significance is usually estimated Accurately if we know the null distribution of T ...
... From the GE data we calculate a statistic z for each gene For each gene set S, we calculate a statistic TS that is a function of the z-scores. Significance is usually estimated Accurately if we know the null distribution of T ...
Team Publications - Centre de recherche de l`Institut Curie
... complexes but exhibit contrasting repressive roles. While PRC2-Ezh2 catalyzes H3K27me2/3 and its knockdown affects global H3K27me2/3 levels, PRC2-Ezh1 performs this function weakly. In accordance, Ezh1 knockdown was ineffectual on global H3K27me2/3 levels. Instead, PRC2-Ezh1 directly and robustly repr ...
... complexes but exhibit contrasting repressive roles. While PRC2-Ezh2 catalyzes H3K27me2/3 and its knockdown affects global H3K27me2/3 levels, PRC2-Ezh1 performs this function weakly. In accordance, Ezh1 knockdown was ineffectual on global H3K27me2/3 levels. Instead, PRC2-Ezh1 directly and robustly repr ...
Cloning of a cDNA Encoding a Plasma Membrane
... Protein from Numerou Dicotyledonous Plants The OGAIPGA-enhanced phosphorylation of a plasma membrane-associated protein allows the investigation of pectic matrix-cell surface interactions. This rapid and simple assay based on labeling proteins with radioactive phosphate permits the study of the inte ...
... Protein from Numerou Dicotyledonous Plants The OGAIPGA-enhanced phosphorylation of a plasma membrane-associated protein allows the investigation of pectic matrix-cell surface interactions. This rapid and simple assay based on labeling proteins with radioactive phosphate permits the study of the inte ...
c-MET - Siapec
... Involvement of metastasis-related proteins c-MET, MTA-1 and VEGF activated by HER-2/neu ...
... Involvement of metastasis-related proteins c-MET, MTA-1 and VEGF activated by HER-2/neu ...
Ensembl gene annotation project (e!76) Homo sapiens (human
... merged gene set in the future. As for supporting evidence, the merge of Ensembl and HAVANA transcripts also involved merging of protein and cDNA supporting evidence associated with the transcripts to ensure the basis on which the annotations were made would not be lost. Following the merge, the long ...
... merged gene set in the future. As for supporting evidence, the merge of Ensembl and HAVANA transcripts also involved merging of protein and cDNA supporting evidence associated with the transcripts to ensure the basis on which the annotations were made would not be lost. Following the merge, the long ...
allele 2 Proteins made from allele 1 chromosome Proteins made
... If a mutation occurs in the DNA of an allele, the protein made may have an incorrect structure and not work properly. Alternatively, some mutations can result in no protein being made at all. The tasks below will make you explore the differences between normal and mutated proteins and how changes in ...
... If a mutation occurs in the DNA of an allele, the protein made may have an incorrect structure and not work properly. Alternatively, some mutations can result in no protein being made at all. The tasks below will make you explore the differences between normal and mutated proteins and how changes in ...
Synthesis of protein and peptide hormones
... Lipid soluble, made from low molecular weight precursors Morphology: Peptides - secretory granules, RER. Steroids - lipid droplets ...
... Lipid soluble, made from low molecular weight precursors Morphology: Peptides - secretory granules, RER. Steroids - lipid droplets ...
Heart Failure and Protein Quality Control
... large and diverse family of proteins, termed chaperones, which mediate the correct folding of nascent or incomplete peptides, preventing their misfolding and the subsequent formation of insoluble aggregates. Misfolding is often initiated by the exposed hydrophobic surfaces of the nascent protein, an ...
... large and diverse family of proteins, termed chaperones, which mediate the correct folding of nascent or incomplete peptides, preventing their misfolding and the subsequent formation of insoluble aggregates. Misfolding is often initiated by the exposed hydrophobic surfaces of the nascent protein, an ...
Gene regulation and bacteriophage
... time so that the proteins required to be present at a certain developmental stage are expressed and then disappear when they are no longer needed. Controlling the timing and sites of gene expression controls the organism. To understand how a genome works, it is imperative to understand how gene expr ...
... time so that the proteins required to be present at a certain developmental stage are expressed and then disappear when they are no longer needed. Controlling the timing and sites of gene expression controls the organism. To understand how a genome works, it is imperative to understand how gene expr ...
Lipids
... Organic substances, macromolecules, or biomolecules make up all living things. The four groups of substances are carbohydrates lipids proteins nucleic acids ...
... Organic substances, macromolecules, or biomolecules make up all living things. The four groups of substances are carbohydrates lipids proteins nucleic acids ...
ppt
... coagulation factor VIII is another inherited bleeding disease. • The molecular basis for this disorder as deficiency of the cellular protein LMAN1 (also known as ERGIC53) was identified. • Though LMAN1 gene mutations in many combined deficiency patients were found, the cause of this disorder in appr ...
... coagulation factor VIII is another inherited bleeding disease. • The molecular basis for this disorder as deficiency of the cellular protein LMAN1 (also known as ERGIC53) was identified. • Though LMAN1 gene mutations in many combined deficiency patients were found, the cause of this disorder in appr ...
BioOntologies2007_jb.. - Bio
... available to use - Differences in expertise among curators should result in close, but not necessarily exact, GO term annotations ...
... available to use - Differences in expertise among curators should result in close, but not necessarily exact, GO term annotations ...
Mammalian Expression Vectors Mammalian Stable Expression
... 6. Add DNA-Lipid complex to cells 7. Visualize cells using microscope and analyze. *At ATUM we typically use a 1:1 ratio of DNA:Lipofectamine ...
... 6. Add DNA-Lipid complex to cells 7. Visualize cells using microscope and analyze. *At ATUM we typically use a 1:1 ratio of DNA:Lipofectamine ...
Document
... Scaffold Protein Periplasmic Binding Protein: binds the Cterminal domains of transmembrane proteins May play a role in neuronal function Kinesin Family Member: transports NMDA vesicles Glutamate Receptor, Ionotropic, Kainate 4: excitatory neurotransmitter at synapses in CNS Protein Kinase, AMP-activ ...
... Scaffold Protein Periplasmic Binding Protein: binds the Cterminal domains of transmembrane proteins May play a role in neuronal function Kinesin Family Member: transports NMDA vesicles Glutamate Receptor, Ionotropic, Kainate 4: excitatory neurotransmitter at synapses in CNS Protein Kinase, AMP-activ ...
The Cystic Fibrosis Gene
... It’s now well over a year since the cystic fibrosis gene was cloned and there is still much to be done before its localisation can be translated into an improvement in health care for affected people. I’m not going to go into any details on how the gene was located, for this information (which is ra ...
... It’s now well over a year since the cystic fibrosis gene was cloned and there is still much to be done before its localisation can be translated into an improvement in health care for affected people. I’m not going to go into any details on how the gene was located, for this information (which is ra ...
Molecular Detection of Inherited Diseases
... • A second electrode (without pilocarpine) will be placed at another site and a mild electrical current will draw the pilocarpine into the skin where it stimulates the sweat glands. • The test site is carefully cleaned and dried, then a piece of preweighed filter paper is placed over the test site a ...
... • A second electrode (without pilocarpine) will be placed at another site and a mild electrical current will draw the pilocarpine into the skin where it stimulates the sweat glands. • The test site is carefully cleaned and dried, then a piece of preweighed filter paper is placed over the test site a ...
University of Groningen AthPEX10, ariuclear gene essential
... leads to accumulation of membrane sheets (8, 9). In H. polymorpha, PEX10-deficient mutants contain no peroxisome-like structures, and peroxisomal enzymes are located in the cytosol, whereas overexpression of PEX10p leads to increased numbers of peroxisomes, indicating its role in peroxisome prolifer ...
... leads to accumulation of membrane sheets (8, 9). In H. polymorpha, PEX10-deficient mutants contain no peroxisome-like structures, and peroxisomal enzymes are located in the cytosol, whereas overexpression of PEX10p leads to increased numbers of peroxisomes, indicating its role in peroxisome prolifer ...
Gene Section STK11 (serine/threonine kinase 11) Atlas of Genetics and Cytogenetics
... Brien TP, Bozzuto CD, Ooi D, Cantley LC, Yuan J. The PeutzJegher gene product LKB1 is a mediator of p53-dependent cell ...
... Brien TP, Bozzuto CD, Ooi D, Cantley LC, Yuan J. The PeutzJegher gene product LKB1 is a mediator of p53-dependent cell ...
Document
... In general, multiple ubiquitin units are arranged in polyubiquitin chains linked via Lys48 of ubiquitin, targeting the protein for degradation ...
... In general, multiple ubiquitin units are arranged in polyubiquitin chains linked via Lys48 of ubiquitin, targeting the protein for degradation ...
Mutation - SD43 Teacher Sites
... Harmful mutations, known as negative mutations, can cause a species to become extinct. Most often, however, errors in the base sequence of DNA appear to have no effect on the organism. These types of mutations are called neutral mutations. Positive mutation Millions of people worldwide are infected ...
... Harmful mutations, known as negative mutations, can cause a species to become extinct. Most often, however, errors in the base sequence of DNA appear to have no effect on the organism. These types of mutations are called neutral mutations. Positive mutation Millions of people worldwide are infected ...
Protein moonlighting
Protein moonlighting (or gene sharing) is a phenomenon by which a protein can perform more than one function. Ancestral moonlighting proteins originally possessed a single function but through evolution, acquired additional functions. Many proteins that moonlight are enzymes; others are receptors, ion channels or chaperones. The most common primary function of moonlighting proteins is enzymatic catalysis, but these enzymes have acquired secondary non-enzymatic roles. Some examples of functions of moonlighting proteins secondary to catalysis include signal transduction, transcriptional regulation, apoptosis, motility, and structural.Protein moonlighting may occur widely in nature. Protein moonlighting through gene sharing differs from the use of a single gene to generate different proteins by alternative RNA splicing, DNA rearrangement, or post-translational processing. It is also different from multifunctionality of the protein, in which the protein has multiple domains, each serving a different function. Protein moonlighting by gene sharing means that a gene may acquire and maintain a second function without gene duplication and without loss of the primary function. Such genes are under two or more entirely different selective constraints.Various techniques have been used to reveal moonlighting functions in proteins. The detection of a protein in unexpected locations within cells, cell types, or tissues may suggest that a protein has a moonlighting function. Furthermore, sequence or structure homology of a protein may be used to infer both primary function as well as secondary moonlighting functions of a protein.The most well-studied examples of gene sharing are crystallins. These proteins, when expressed at low levels in many tissues function as enzymes, but when expressed at high levels in eye tissue, become densely packed and thus form lenses. While the recognition of gene sharing is relatively recent—the term was coined in 1988, after crystallins in chickens and ducks were found to be identical to separately identified enzymes—recent studies have found many examples throughout the living world. Joram Piatigorsky has suggested that many or all proteins exhibit gene sharing to some extent, and that gene sharing is a key aspect of molecular evolution. The genes encoding crystallins must maintain sequences for catalytic function and transparency maintenance function.Inappropriate moonlighting is a contributing factor in some genetic diseases, and moonlighting provides a possible mechanism by which bacteria may become resistant to antibiotics.