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DNAH5
Dynein axonemal heavy chain 5 is a protein that in humans is encoded by the ''DNAH5'' gene. ''DNAH5'' is a protein-coding gene.1 It provides the instructions for synthesizing a protein that belongs to a microtubule-associated protein complex made of heavy, light and intermediate chains.2 ''DNAH5'' is responsible for making the heavy chain 5, found within the outer dynein arms of cilia.1 It will function as a force generating protein by using ATP, producing the power stroke for cilia.3 During early development, the cilia found on the primitive node will beat in a directional pattern, sending signaling molecules to the left, this process will begin to establish the internal left-right asymmetry.3 Mutations in ''DNAH5'' are linked to primary ciliary dyskinesia, an autosomal recessive disorder.4 This X-linked disorder is characterized by recurrent respiratory infections, infertility, and abnormal organ placement.1 Non-functional DNAH5 proteins have been identified in individuals with ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Primary Ciliary Dyskinesia
Primary ciliary dyskinesia (PCD) is a rare, autosomal recessive genetic ciliopathy, that causes defects in the action of cilia lining the upper and lower respiratory tract, sinuses, Eustachian tube, middle ear, Fallopian tube, and flagella of sperm cells. The alternative name of "immotile ciliary syndrome" is no longer favored as the cilia do have movement, but are merely inefficient or unsynchronized. When accompanied by situs inversus the condition is known as Kartagener syndrome. Respiratory epithelial motile cilia, which resemble microscopic "hairs" (although structurally and biologically unrelated to hair), are complex organelles that beat synchronously in the respiratory tract, moving mucus toward the throat. Normally, cilia beat 7 to 22 times per second, and any impairment can result in poor mucociliary clearance, with subsequent upper and lower respiratory infection. Cilia also are involved in other biological processes (such as nitric oxide production), currently th ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Dynein
Dyneins are a family of cytoskeletal motor proteins that move along microtubules in cells. They convert the chemical energy stored in ATP to mechanical work. Dynein transports various cellular cargos, provides forces and displacements important in mitosis, and drives the beat of eukaryotic cilia and flagella. All of these functions rely on dynein's ability to move towards the minus-end of the microtubules, known as retrograde transport; thus, they are called "minus-end directed motors". In contrast, most kinesin motor proteins move toward the microtubules' plus-end, in what is called anterograde transport. Classification Dyneins can be divided into two groups: cytoplasmic dyneins and axonemal dyneins, which are also called ciliary or flagellar dyneins. * cytoplasmic ** heavy chain: DYNC1H1, DYNC2H1 ** intermediate chain: DYNC1I1, DYNC1I2 ** light intermediate chain: DYNC1LI1, DYNC1LI2, DYNC2LI1 ** light chain: DYNLL1, DYNLL2, DYNLRB1, DYNLRB2, DYNLT1, DYNLT3 * axo ... [...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 residues. Proteins perform a vast array of functions within organisms, including catalysing metabolic reactions, DNA replication, responding to stimuli, providing structure to cells and organisms, and transporting molecules from one location to another. Proteins differ from one another primarily in their sequence of amino acids, which is dictated by the nucleotide sequence of their genes, and which usually results in protein folding into a specific 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 peptides. The individual amino acid residues are bonded together by peptide bonds and adjacent amino acid residues. The sequence of amino acid residue ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Gene
In biology, the word gene (from , ; "...Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a basic unit of heredity and the molecular gene is a sequence of nucleotides in DNA that is transcribed to produce a functional RNA. There are two types of molecular genes: protein-coding genes and noncoding genes. During gene expression, the DNA is first copied into RNA. The RNA can be directly functional or be the intermediate template for a protein that performs a function. The transmission of genes to an organism's offspring is the basis of the inheritance of phenotypic traits. These genes make up different DNA sequences called genotypes. Genotypes along with environmental and developmental factors determine what the phenotypes will be. Most biological traits are under the influence of polygenes (many different genes) as well as gen ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Microtubule-associated Protein
In cell biology, microtubule-associated proteins (MAPs) are proteins that interact with the microtubules of the cellular cytoskeleton. MAPs are integral to: the stability of the cell and its internal structures and the transport of components within the cell Function MAPs bind to the tubulin subunits that make up microtubules to regulate their stability. A large variety of MAPs have been identified in many different cell types, and they have been found to carry out a wide range of functions. These include both stabilizing and destabilizing microtubules, guiding microtubules towards specific cellular locations, cross-linking microtubules and mediating the interactions of microtubules with other proteins in the cell. Within the cell, MAPs bind directly to the tubulin dimers of microtubules. This binding can occur with either polymerized or depolymerized tubulin, and in most cases leads to the stabilization of microtubule structure, further encouraging polymerization. Usually, it is th ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Cilia
The cilium, plural cilia (), is a membrane-bound organelle found on most types of eukaryotic cell, and certain microorganisms known as ciliates. Cilia are absent in bacteria and archaea. The cilium has the shape of a slender threadlike projection that extends from the surface of the much larger cell body. Eukaryotic flagella found on sperm cells and many protozoans have a similar structure to motile cilia that enables swimming through liquids; they are longer than cilia and have a different undulating motion. There are two major classes of cilia: ''motile'' and ''non-motile'' cilia, each with a subtype, giving four types in all. A cell will typically have one primary cilium or many motile cilia. The structure of the cilium core called the axoneme determines the cilium class. Most motile cilia have a central pair of single microtubules surrounded by nine pairs of double microtubules called a 9+2 axoneme. Most non-motile cilia have a 9+0 axoneme that lacks the central pair of mi ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Left-right Asymmetry
Left-right asymmetry, (LR asymmetry) is the process in early embryonic development that Homochirality#Symmetry breaking, breaks the normal symmetry in the Symmetry#In biology, bilateral embryo. In vertebrates, left-right asymmetry is established early in development at a structure called the left-right organizer (the name of which varies between species) and leads to activation of different signalling pathways on the left and right of the embryo. This in turn cause several organs in adults to develop LR asymmetry, such as the tilt of the heart, the different number lung lobes on each side of the body and the position of the stomach and spleen on the right side of the body. If this process does not occur correctly in humans it can result in the syndromes heterotaxy or situs inversus. LR asymmetry is pervasive throughout all animals, including invertebrates. Examples of invertebrate LR asymmetry include the large and small claws of the fiddler crab, asymmetrical gut coiling in ''Dros ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Respiratory Tract Infection
Respiratory tract infections (RTIs) are infectious diseases involving the respiratory tract. An infection of this type usually is further classified as an upper respiratory tract infection (URI or URTI) or a lower respiratory tract infection (LRI or LRTI). Lower respiratory infections, such as pneumonia, tend to be far more severe than upper respiratory infections, such as the common cold. Types Upper respiratory tract infection The upper respiratory tract is considered the airway above the glottis or vocal cords; sometimes, it is taken as the tract above the cricoid cartilage. This part of the tract includes the nose, sinuses, pharynx, and larynx. Typical infections of the upper respiratory tract include tonsillitis, pharyngitis, laryngitis, sinusitis, otitis media, certain influenza types, and the common cold. Symptoms of URIs can include cough, sore throat, runny nose, nasal congestion, headache, low-grade fever, facial pressure, and sneezing. Lower respiratory tract infecti ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Infertility
Infertility is the inability of a person, animal or plant to reproduce by natural means. It is usually not the natural state of a healthy adult, except notably among certain eusocial species (mostly haplodiploid insects). It is the normal state of a human child or other young offspring, because they have not undergone puberty, which is the body's start of reproductive capacity. In humans, infertility is the inability to become pregnant after one year of unprotected and regular sexual intercourse involving a male and female partner.Chowdhury SH, Cozma AI, Chowdhury JH. Infertility. Essentials for the Canadian Medical Licensing Exam: Review and Prep for MCCQE Part I. 2nd edition. Wolters Kluwer. Hong Kong. 2017. There are many causes of infertility, including some that medical intervention can treat. Estimates from 1997 suggest that worldwide about five percent of all heterosexual couples have an unresolved problem with infertility. Many more couples, however, experience involu ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
