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R-spondin 2
R-spondin 2 also known as roof plate-specific spondin-2 is a secreted protein that in humans that is encoded by the ''RSPO2'' gene. R-spondin 2 synergizes with canonical WNT to activate beta-catenin. RSPO2 has been proposed to regulate craniofacial patterning and morphogenesis within pharyngeal arch 1 through ectoderm-mesenchyme signaling via the endothelin-Dlx5/6 pathway. In dogs, a variant on the Rspo2 gene is associated moustache and eyebrow thickness. In humans, recessive mutations in RSPO2 abrogate limb and lung development. Bruno Reversade and colleagues have reported in 2018 that loss of RSPO2 results in a syndrome of Tetra-amelia with lung agenesis In medicine, agenesis () refers to the failure of an organ to develop during embryonic growth and development due to the absence of primordial tissue. Many forms of agenesis are referred to by individual names, depending on the organ affected: * A .... References {{gene-8-stub Glycoproteins Extracellular matrix ... [...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] |
Wnt Signaling Pathway
The Wnt signaling pathways are a group of signal transduction pathways which begin with proteins that pass signals into a cell through cell surface receptors. The name Wnt is a portmanteau created from the names Wingless and Int-1. Wnt signaling pathways use either nearby cell-cell communication (paracrine) or same-cell communication (autocrine). They are highly evolutionarily conserved in animals, which means they are similar across animal species from fruit flies to humans. Three Wnt signaling pathways have been characterized: the canonical Wnt pathway, the noncanonical planar cell polarity pathway, and the noncanonical Wnt/calcium pathway. All three pathways are activated by the binding of a Wnt-protein ligand to a Frizzled family receptor, which passes the biological signal to the Dishevelled protein inside the cell. The canonical Wnt pathway leads to regulation of gene transcription, and is thought to be negatively regulated in part by the SPATS1 gene. The noncanonical plana ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Beta-catenin
Catenin beta-1, also known as beta-catenin (β-catenin), is a protein that in humans is encoded by the ''CTNNB1'' gene. Beta-catenin is a dual function protein, involved in regulation and coordination of cell–cell adhesion and gene transcription. In humans, the CTNNB1 protein is encoded by the ''CTNNB1'' gene. In ''Drosophila'', the homologous protein is called ''armadillo''. β-catenin is a subunit of the cadherin protein complex and acts as an intracellular signal transducer in the Wnt signaling pathway. It is a member of the catenin protein family and homologous to γ-catenin, also known as plakoglobin. Beta-catenin is widely expressed in many tissues. In cardiac muscle, beta-catenin localizes to adherens junctions in intercalated disc structures, which are critical for electrical and mechanical coupling between adjacent cardiomyocytes. Mutations and overexpression of β-catenin are associated with many cancers, including hepatocellular carcinoma, colorectal carcinoma, lun ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Craniofacial
Craniofacial (''cranio-'' combining form meaning head or skull + ''-facial'' combining form referring to the facial structures grossly) is an adjective referring to the parts of the head enclosing the brain and the face. The term is typically used to describe an area of focus for the study and treatment of certain congenital malformations or facial injuries. The first use of the term was 1859. The first PubMed citation with the use of the term Craniofacial was in 1876 by T. H. Huxley. See also *Craniofacial Team *Craniofacial surgery Craniofacial surgery is a surgical subspecialty that deals with congenital disorder, congenital and acquired deformity, deformities of the human head, head, human skull, skull, face, neck, jaws and associated structures. Although craniofacial treat ... References Oral and maxillofacial surgery {{Anatomy-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Pattern Formation
The science of pattern formation deals with the visible, ( statistically) orderly outcomes of self-organization and the common principles behind similar patterns in nature. In developmental biology, pattern formation refers to the generation of complex organizations of cell fates in space and time. The role of genes in pattern formation is an aspect of morphogenesis, the creation of diverse anatomies from similar genes, now being explored in the science of evolutionary developmental biology or evo-devo. The mechanisms involved are well seen in the anterior-posterior patterning of embryos from the model organism ''Drosophila melanogaster'' (a fruit fly), one of the first organisms to have its morphogenesis studied, and in the eyespots of butterflies, whose development is a variant of the standard (fruit fly) mechanism. Patterns in nature Examples of pattern formation can be found in biology, physics, and science, and can readily be simulated with computer graphics, as descri ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Morphogenesis
Morphogenesis (from the Greek ''morphê'' shape and ''genesis'' creation, literally "the generation of form") is the biological process that causes a cell, tissue or organism to develop its shape. It is one of three fundamental aspects of developmental biology along with the control of tissue growth and patterning of cellular differentiation. The process controls the organized spatial distribution of cells during the embryonic development of an organism. Morphogenesis can take place also in a mature organism, such as in the normal maintenance of tissue by stem cells or in regeneration of tissues after damage. Cancer is an example of highly abnormal and pathological tissue morphogenesis. Morphogenesis also describes the development of unicellular life forms that do not have an embryonic stage in their life cycle. Morphogenesis is essential for the evolution of new forms. Morphogenesis is a mechanical process involving forces that generate mechanical stress, strain, and moveme ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Pharyngeal Arch 1
The pharyngeal arches, also known as visceral arches'','' are structures seen in the embryonic development of vertebrates that are recognisable precursors for many structures. In fish, the arches are known as the branchial arches, or gill arches. In the human embryo, the arches are first seen during the fourth week of development. They appear as a series of outpouchings of mesoderm on both sides of the developing pharynx. The vasculature of the pharyngeal arches is known as the aortic arches. In fish, the branchial arches support the gills. Structure In vertebrates, the pharyngeal arches are derived from all three germ layers (the primary layers of cells that form during embryogenesis). Neural crest cells enter these arches where they contribute to features of the skull and facial skeleton such as bone and cartilage. However, the existence of pharyngeal structures before neural crest cells evolved is indicated by the existence of neural crest-independent mechanisms of phar ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Ectoderm
The ectoderm is one of the three primary germ layers formed in early embryonic development. It is the outermost layer, and is superficial to the mesoderm (the middle layer) and endoderm (the innermost layer). It emerges and originates from the outer layer of germ cells. The word ectoderm comes from the Greek ''ektos'' meaning "outside", and ''derma'' meaning "skin".Gilbert, Scott F. Developmental Biology. 9th ed. Sunderland, MA: Sinauer Associates, 2010: 333-370. Print. Generally speaking, the ectoderm differentiates to form epithelial and neural tissues (spinal cord, peripheral nerves and brain). This includes the skin, linings of the mouth, anus, nostrils, sweat glands, hair and nails, and tooth enamel. Other types of epithelium are derived from the endoderm. In vertebrate embryos, the ectoderm can be divided into two parts: the dorsal surface ectoderm also known as the external ectoderm, and the neural plate, which invaginates to form the neural tube and neural crest. Th ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Recessive Disorders
A genetic disorder is a health problem caused by one or more abnormalities in the genome. It can be caused by a mutation in a single gene (monogenic) or multiple genes (polygenic) or by a chromosomal abnormality. Although polygenic disorders are the most common, the term is mostly used when discussing disorders with a single genetic cause, either in a gene or chromosome. The mutation responsible can occur spontaneously before embryonic development (a ''de novo'' mutation), or it can be inherited from two parents who are carriers of a faulty gene ( autosomal recessive inheritance) or from a parent with the disorder ( autosomal dominant inheritance). When the genetic disorder is inherited from one or both parents, it is also classified as a hereditary disease. Some disorders are caused by a mutation on the X chromosome and have X-linked inheritance. Very few disorders are inherited on the Y chromosome or mitochondrial DNA (due to their size). There are well over 6,000 known ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Limb (anatomy)
A limb (from the Old English ''lim'', meaning "body part") or leg is a jointed, muscled appendage that tetrapod vertebrates use for weight-bearing and terrestrial locomotion such as walking, running and jumping, for paddle-swimming, or for grasping and climbing. The distalmost portion of a limb is known as its extremity. The limbs' bony endoskeleton, known as the appendicular skeleton, is homologous among all tetrapods. All tetrapods have four limbs that are organized into two bilaterally symmetrical pairs, with one pair at each end of the torso. The cranial pair are known as the forelimbs or ''front legs'', and the caudal pair the hindlimbs or ''back legs''. In animals with more upright posture (mainly hominid primates, particularly humans), the forelimbs and hindlimbs are often called upper and lower limbs, respectively. The fore-/upper limbs are connected to the thoracic cage via the shoulder girdles, and the hind-/lower limbs are connected to the pelvis via the hip ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Lung
The lungs are the primary organs of the respiratory system in humans and most other animals, including some snails and a small number of fish. In mammals and most other vertebrates, two lungs are located near the backbone on either side of the heart. Their function in the respiratory system is to extract oxygen from the air and transfer it into the bloodstream, and to release carbon dioxide from the bloodstream into the atmosphere, in a process of gas exchange. Respiration is driven by different muscular systems in different species. Mammals, reptiles and birds use their different muscles to support and foster breathing. In earlier tetrapods, air was driven into the lungs by the pharyngeal muscles via buccal pumping, a mechanism still seen in amphibians. In humans, the main muscle of respiration that drives breathing is the diaphragm. The lungs also provide airflow that makes vocal sounds including human speech possible. Humans have two lungs, one on the left and on ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
