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DOCK8
Dedicator of cytokinesis protein 8 (Dock8) is a large (~190 kDa) protein encoded in the human by the ''DOCK8'' gene, involved in intracellular signalling networks. It is a member of the DOCK-C subfamily of the DOCK family of guanine nucleotide exchange factors (GEFs) which function as activators of small G-proteins. Discovery Dock8 was identified during a yeast two hybrid (YTH) screen for proteins that interact with the Rho family small G protein Cdc42. Subsequent northern blot analysis revealed high levels of Dock8 expression in the placenta, lung, kidney and pancreas as well as lower levels in the heart, brain and skeletal muscle. Function Dock8 shares the same core domain arrangement as all other DOCK proteins, with a DHR2 domain which, in other proteins, contains GEF activity and a DHR1 domain known, in other proteins, to interact with phospholipids. In the YTH system Dock8 was reported to interact with both Rac1 and Cdc42. However, no stable interaction between Dock8 ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Hyperimmunoglobulin E Syndrome
Hyperimmunoglobulinemia E syndrome (HIES), of which the autosomal dominant form is called Job's syndrome or Buckley syndrome, is a heterogeneous group of immune disorders. Job's is also very rare at about 300 cases currently in the literature. Presentation It is characterized by recurrent "cold" staphylococcal infections (due to impaired recruitment of neutrophils), unusual eczema-like skin rashes, severe lung infections that result in pneumatoceles (balloon-like lesions that may be filled with air or pus or scar tissue) and very high (> 2000 IU/mL or 4800 mcg/L) concentrations of the serum antibody IgE. Inheritance can be autosomal dominant or autosomal recessive. Many patients with autosomal dominant STAT3 hyper-IgE syndrome have characteristic facial and dental abnormalities, fail to lose their primary teeth, and have two sets of teeth simultaneously. Pathophysiology Abnormal neutrophil chemotaxis due to decreased production of interferon gamma by T lymphocytes is thought to ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Protein
Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residue (biochemistry), residues. Proteins perform a vast array of functions within organisms, including Enzyme catalysis, catalysing metabolic reactions, DNA replication, Cell signaling, responding to stimuli, providing Cytoskeleton, structure to cells and Fibrous protein, organisms, and Intracellular transport, transporting molecules from one location to another. Proteins differ from one another primarily in their sequence of amino acids, which is dictated by the Nucleic acid sequence, nucleotide sequence of their genes, and which usually results in protein folding into a specific Protein structure, 3D structure that determines its activity. A linear chain of amino acid residues is called a polypeptide. A protein contains at least one long polypeptide. Short polypeptides, containing less than 20–30 residues, are rarely considered to be proteins and are commonly called pep ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
DHR2 Domain
DHR2 (DOCK homology region 2), also known as CZH2 or Docker2, is a protein domain of approximately 450-550 amino acids that is present in the DOCK family of proteins. This domain functions as a guanine nucleotide exchange factor (GEF) domain for small G proteins of the Rho family. DHR2 domains bear no significant similarity to the well described DH domain (Dbl homologous domain) present in other RhoGEFs such as Vav, P-Rex and TRIO. Indeed, the most divergent mammalian DHR2 domains share only 16-17% sequence similarity Sequence homology is the biological homology between DNA, RNA, or protein sequences, defined in terms of shared ancestry in the evolutionary history of life. Two segments of DNA can have shared ancestry because of three phenomena: either a speci .... References Further reading * * * {{refend Protein domains ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Germline
In biology and genetics, the germline is the population of a multicellular organism's cells that develop into germ cells. In other words, they are the cells that form gametes ( eggs and sperm), which can come together to form a zygote. They differentiate in the gonads from primordial germ cells into gametogonia, which develop into gametocytes, which develop into the final gametes. This process is known as gametogenesis. Germ cells pass on genetic material through the process of sexual reproduction. This includes fertilization, recombination and meiosis. These processes help to increase genetic diversity in offspring. Certain organisms reproduce asexually via processes such as apomixis, parthenogenesis, autogamy, and cloning. Apomixis and Parthenogenesis both refer to the development of an embryo without fertilization. The former typically occurs in plants seeds, while the latter tends to be seen in nematodes, as well as certain species of reptiles, birds, and fish. Autogamy ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Combined Immunodeficiency
Combined immune deficiencies (CIDs) are a diverse group of inherited immune disorders characterized by impaired T lymphocyte development, function, or both, with variable B cell defects. The primary clinical manifestation of CID is infection susceptibility. Clinical manifestations of combined immunodeficiencies vary greatly, ranging from diarrhea and sinus infections to opportunistic infections caused by mycobacteria, fungi, and vaccination reactions resulting in localized to systemic symptoms. Antibiotics and immunoglobulin replacement therapy are typically administered to patients as needed. Without hematopoietic cell or other transplantation aimed at correcting the underlying pathophysiological defect, prognosis is frequently poor due to T cell dysfunction. Signs and symptoms Patients with combined immune deficiencies typically exhibit recurrent gastrointestinal and respiratory tract infections, which can be attributed to a wide variety of bacteria. However, because of T cel ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Glioma
A glioma is a type of primary tumor that starts in the glial cells of the brain or spinal cord. They are malignant but some are extremely slow to develop. Gliomas comprise about 30% of all brain and central nervous system tumors and 80% of all malignant brain tumors. They are a few common types that include astrocytoma (cancer of astrocytes), glioblastoma (an aggressive form of astrocytoma), oligodendroglioma (cancer of oligodendrocytes), and ependymoma (cancer of ependymal cells). Signs and symptoms Symptoms of gliomas depend on the part of the central nervous system (CNS) that is affected. A brain glioma can cause headaches, vomiting, memory loss, seizures, vision problems, speech difficulties, and cranial nerve disorders as a result of increased intracranial pressure. Cognitive impairments such as vision loss arise in glioma patients when a tumor arises in or around their optic nerve. Spinal cord gliomas can cause pain, weakness, or numbness in the extremities ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Lung Cancer
Lung cancer, also known as lung carcinoma, is a malignant tumor that begins in the lung. Lung cancer is caused by genetic damage to the DNA of cells in the airways, often caused by cigarette smoking or inhaling damaging chemicals. Damaged airway cells gain the ability to multiply unchecked, causing the growth of a tumor. Without treatment, tumors spread throughout the lung, damaging lung function. Eventually lung tumors metastasize, spreading to other parts of the body. Early lung cancer often has no symptoms and can only be detected by medical imaging. As the cancer progresses, most people experience nonspecific respiratory problems: coughing, shortness of breath, or chest pain. Other symptoms depend on the location and size of the tumor. Those suspected of having lung cancer typically undergo a series of imaging tests to determine the location and extent of any tumors. Definitive diagnosis of lung cancer requires a biopsy of the suspected tumor be examined by a patholo ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Gene Expression
Gene expression is the process (including its Regulation of gene expression, regulation) by which information from a gene is used in the synthesis of a functional gene product that enables it to produce end products, proteins or non-coding RNA, and ultimately affect a phenotype. These products are often proteins, but in non-protein-coding genes such as Transfer RNA, transfer RNA (tRNA) and Small nuclear RNA, small nuclear RNA (snRNA), the product is a functional List of RNAs, non-coding RNA. The process of gene expression is used by all known life—eukaryotes (including multicellular organisms), prokaryotes (bacteria and archaea), and viruses—to generate the macromolecule, macromolecular machinery for life. In genetics, gene expression is the most fundamental level at which the genotype gives rise to the phenotype, ''i.e.'' observable trait. The genetic information stored in DNA represents the genotype, whereas the phenotype results from the "interpretation" of that informati ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Deletion (genetics)
In genetics, a deletion (also called gene deletion, deficiency, or deletion mutation) (sign: Δ) is a mutation (a genetic aberration) in which a part of a chromosome or a sequence of DNA is left out during DNA replication. Any number of nucleotides can be deleted, from a single base to an entire piece of chromosome. Some chromosomes have fragile spots where breaks occur, which result in the deletion of a part of the chromosome. The breaks can be induced by heat, viruses, radiation, or chemical reactions. When a chromosome breaks, if a part of it is deleted or lost, the missing piece of chromosome is referred to as a deletion or a deficiency. For synapsis to occur between a chromosome with a large intercalary deficiency and a normal complete homolog, the unpaired region of the normal homolog must loop out of the linear structure into a deletion or compensation loop. The smallest single base deletion mutations occur by a single base flipping in the template DNA, followed by te ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Coarse Facial Features
Coarse facial features (coarse facies) is a constellation of facial features that are present in many inborn errors of metabolism. Features include: * large, bulging head * prominent scalp veins * "saddle-like, flat bridged nose with broad, fleshy tip" * large lips and tongue * small, widely spaced and/or malformed teeth * hypertrophic alveolar ridges and/or gums The head tends to be longer than normal from front to back, with a bulging forehead. This is because of the premature fusion of skull bones in the affected person. Causes Several conditions are associated with coarse facial features. *Acromegaly * Alpha-mannosidosis type II * Aspartylglycosaminuria * Battaglia Neri syndrome * Börjeson–Forssman–Lehmann syndrome * Chromosome 6q deletion syndrome * Coarse face - hypotonia - constipation *Congenital hypothyroidism * Dandy–Walker malformation (with mental retardation basal ganglia disease and seizures) * Dyggve–Melchior–Clausen syndrome * Fucosidosis type 1 * Fuco ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Signal Transducing Adaptor Protein
Signal transducing adaptor proteins (STAPs) are proteins that are accessory to main proteins in a signal transduction pathway. Adaptor proteins contain a variety of protein-binding modules that link protein-binding partners together and facilitate the creation of larger signaling complexes. These proteins tend to lack any intrinsic enzymatic activity themselves, instead mediating specific protein–protein interactions that drive the formation of Multiprotein complex, protein complexes. Examples of adaptor proteins include MYD88, Grb2 and SHC1. Signaling components Much of the specificity of signal transduction depends on the recruitment of several signalling components such as protein kinases and G-protein GTPases into short-lived active complexes in response to an activating signal such as a growth factor binding to its receptor (biochemistry), receptor. Domains Adaptor proteins usually contain several domains within their structure (e.g., SH2 domain, Src homology 2 (SH2) and S ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Glutathione S-transferase
Glutathione ''S''-transferases (GSTs), previously known as ligandins, are a family of eukaryote, eukaryotic and prokaryote, prokaryotic Biotransformation#Phase II reaction, phase II metabolic isozymes best known for their ability to Catalysis, catalyze the conjugation of the reduced form of glutathione (GSH) to xenobiotic substrate (biochemistry), substrates for the purpose of detoxification. The GST family consists of three superfamilies: the cytosolic, mitochondrial, and microsomal—also known as MAPEG family, MAPEG—proteins. Members of the GST superfamily are extremely diverse in amino acid sequence, and a large fraction of the sequences deposited in public databases are of unknown function. The Enzyme Function Initiative (EFI) is using GSTs as a model superfamily to identify new GST functions. GSTs can constitute up to 10% of cytosolic protein in some mammalian organs. GSTs catalyse the conjugation of GSH—via a sulfhydryl group—to electrophilic centers on a wide var ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
