|
Emerin
Emerin is a protein that in humans is encoded by the ''EMD'' gene, also known as the ''STA'' gene. Emerin, together with LEMD3, is a LEM domain-containing Transmembrane protein, integral protein of the Inner nuclear membrane proteins, inner Cell nucleus, nuclear membrane in vertebrates. Emerin is highly expressed in cardiac muscle, cardiac and skeletal muscle. In cardiac muscle, emerin localizes to adherens junctions within intercalated discs where it appears to function in mechanotransduction of cellular strain and in CTNNB1, beta-catenin signaling. Mutations in emerin cause X-linked recessive inheritance, X-linked recessive Emery–Dreifuss muscular dystrophy, cardiac conduction abnormalities and dilated cardiomyopathy. It is named after Alan Emery. Structure Emerin is a 29.0 kDa (34 kDa observed MW) protein composed of 254 amino acids. Emerin is a serine-rich protein with an N-terminus, N-terminal 20-amino acid hydrophobic region that is flanked by charged residues; the hydr ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
CTNNB1
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 Plakoglobin, 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 canc ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Emery–Dreifuss Muscular Dystrophy
Emery–Dreifuss muscular dystrophy (EDMD) is a type of muscular dystrophy, a group of heritable diseases that cause progressive impairment of muscles. EDMD affects muscles used for movement (skeletal muscles), causing atrophy, weakness and contractures. It almost always affects the heart, causing abnormal rhythms, heart failure, or sudden cardiac death. It is rare, affecting 0.39 per 100,000 (1 per 250,000) people. It is named after Alan Eglin H. Emery and Fritz E. Dreifuss. Signs and symptoms The classic triad of EDMD consists of early contractures, muscle weakness, and heart involvement, typically manifesting in adolescence. Contractures often manifest before weakness, and they can be more disabling. They tend to fix the elbow into flexion and ankle into plantarflexion via Achilles tendon shortening. The spine is also affected, with limited neck flexion initially, and eventually the entire spine can become fixed into extension, referred to as a rigid spine. Elbow and neck co ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Inner Nuclear Membrane Proteins
Inner nuclear membrane proteins (INM proteins) are membrane proteins that are embedded in or associated with the inner membrane of the nuclear envelope. There are about 60 INM proteins, most of which are poorly characterized with respect to structure and function. Among the few well-characterized INM proteins are lamin B receptor (LBR), lamina-associated polypeptide 1 (LAP1), lamina-associated polypeptide-2 (LAP2), emerin and MAN1. Common structural features Several integral nuclear membrane proteins of different size and structure have been identified. It is proposed that they share some structural features with respect to nucleoplasmic domain(s) and lipid-soluble domain(s). Some INM proteins contain common protein domain structures, and can thus be categorised into known protein domain families. These include the LEM-, SUN-, and KASH-domain families. Members of the LEM-domain family play a part in chromatin organisation . SUN- and KASH-domains participate in linking th ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Nuclear Lamina
The nuclear lamina is a dense (~30 to 100 nm thick) fibrillar network inside the nucleus of eukaryote cells. It is composed of intermediate filaments and membrane associated proteins. Besides providing mechanical support, the nuclear lamina regulates important cellular events such as DNA replication and cell division. Additionally, it participates in chromatin organization and it anchors the nuclear pore complexes embedded in the nuclear envelope. The nuclear lamina is associated with the inner face of the inner nuclear membrane of the nuclear envelope, whereas the outer face of the outer nuclear membrane is continuous with the endoplasmic reticulum. The nuclear lamina is similar in structure to the nuclear matrix, that extends throughout the nucleoplasm. Structure and composition The nuclear lamina consists of two components, lamins and nuclear lamin-associated membrane proteins. The lamins are type V intermediate filaments which can be categorized as either A-type ( ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
LEMD3
LEM domain-containing protein 3 (LEMD3), also known as MAN1, is an integral protein in the inner nuclear membrane (INM) of the nuclear envelope. It is encoded by the ''LEMD3'' gene and was first identified after it was isolated from the serum of a patient with a collagen vascular disease. Structure The protein is 82.3 kDa and has a 40 amino acid long LEM domain located at its amino-terminal region. In its carboxyl end it has a RNA recognition motif (RRM). The LEM domain is also common to two other integral proteins of the INM: lamina-associated polypeptide 2 (LAP2) and emerin. The LEM segment enables LEMD3 to attach to the barrier-to-autointegration factor (BAF), and therefore, indirectly interact with the chromatin. LEMD3 also has several implications in regulating the cytokine family such as the transforming growth factor beta (TGF-β) and bone morphogenic protein (BMPs). The RRM domain in its carboxylic region attaches to the SMAD (protein) proteins, which is involved in medi ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Alan Emery
Alan Eglin Heathcote Emery (born 1928) is a British medical geneticist, known for his study of muscular dystrophy. Emery began his working life in the King's Hussars, and graduated in biological sciences from University of Manchester. In 1960 he obtained his medical degree there. His PhD in human genetics was earned at Johns Hopkins University. In 1968 he became a foundation professor of human genetics at the University of Edinburgh. Having established the European Neuromuscular Centre, he was its chief scientific advisor from 1999. He was the first president of the Royal Society of Medicine’s Section of Medical Genetics, which he established, from 2001 to 2004. He was a research fellow and subsequently an honorary fellow of Green Templeton College from 1985. He was elected a Fellow of the Royal College of Physicians (FRCP), Fellow of the Royal College of Physicians of Edinburgh (FRCPE), a Fellow of the American College of Medical Genetics (FACMG), a Fellow of the ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Cell Nucleus
The cell nucleus (pl. nuclei; from Latin or , meaning ''kernel'' or ''seed'') is a membrane-bound organelle found in eukaryotic cells. Eukaryotic cells usually have a single nucleus, but a few cell types, such as mammalian red blood cells, have no nuclei, and a few others including osteoclasts have many. The main structures making up the nucleus are the nuclear envelope, a double membrane that encloses the entire organelle and isolates its contents from the cellular cytoplasm; and the nuclear matrix, a network within the nucleus that adds mechanical support. The cell nucleus contains nearly all of the cell's genome. Nuclear DNA is often organized into multiple chromosomes – long stands of DNA dotted with various proteins, such as histones, that protect and organize the DNA. The genes within these chromosomes are structured in such a way to promote cell function. The nucleus maintains the integrity of genes and controls the activities of the cell by regulating gene ex ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Fibroblast
A fibroblast is a type of biological cell that synthesizes the extracellular matrix and collagen, produces the structural framework ( stroma) for animal tissues, and plays a critical role in wound healing. Fibroblasts are the most common cells of connective tissue in animals. Structure Fibroblasts have a branched cytoplasm surrounding an elliptical, speckled nucleus having two or more nucleoli. Active fibroblasts can be recognized by their abundant rough endoplasmic reticulum. Inactive fibroblasts (called fibrocytes) are smaller, spindle-shaped, and have a reduced amount of rough endoplasmic reticulum. Although disjointed and scattered when they have to cover a large space, fibroblasts, when crowded, often locally align in parallel clusters. Unlike the epithelial cells lining the body structures, fibroblasts do not form flat monolayers and are not restricted by a polarizing attachment to a basal lamina on one side, although they may contribute to basal lamina components ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Heart Block
Heart block (HB) is a disorder in the heart's rhythm due to a fault in the natural pacemaker. This is caused by an obstruction – a block – in the electrical conduction system of the heart. Sometimes a disorder can be inherited. Despite the severe-sounding name, heart block may cause no symptoms at all in some cases, or occasional missed heartbeats in other cases (which can cause light-headedness, syncope (fainting), and palpitations), or may require the implantation of an artificial pacemaker, depending upon exactly where in the heart conduction is being impaired and how significantly it is affected. Heart block should not be confused with other conditions, which may or may not be co-occurring, relating to the heart and/or other nearby organs that are or can be serious, including angina (heart-related chest pain), heart attack (myocardial infarction), any type of heart failure, cardiogenic shock or other types of shock, different types of abnormal heart rhythms ( arrhythmias ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
First-degree Atrioventricular Block
First-degree atrioventricular block (AV block) is a disease of the electrical conduction system of the heart in which electrical impulses conduct from the cardiac atria to the ventricles through the atrioventricular node (AV node) more slowly than normal. First degree AV block does not generally cause any symptoms, but may progress to more severe forms of heart block such as second- and third-degree atrioventricular block. It is diagnosed using an electrocardiogram, and is defined as a PR interval greater than 200 milliseconds. First degree AV block affects 0.65-1.1% of the population with 0.13 new cases per 1000 persons each year. Causes The most common causes of first-degree heart block are AV nodal disease, enhanced vagal tone (for example in athletes), myocarditis, acute myocardial infarction (especially acute inferior MI), electrolyte disturbances and medication. The medications that most commonly cause first-degree heart block are those that increase the refractory ti ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Sinus Bradycardia
Sinus bradycardia is a sinus node dysfunction giving a heart rate that is lower than the normal 60–100 beats per minute (bpm) in humans. Bradycardia is generally defined to be a heart rate of under 60 bpm. Signs and symptoms The decreased heart rate can cause a decreased cardiac output resulting in symptoms such as lightheadedness, dizziness, hypotension, vertigo, and syncope. The slow heart rate may also lead to atrial, junctional, or ventricular ectopic rhythms. Bradycardia is not necessarily problematic. People who practice sports may have sinus bradycardia, because their trained hearts can pump enough blood in each contraction to allow a low resting heart rate. Sinus bradycardia can also be an adaptive advantage; for example, diving seals may have a heart rate as low as 12 beats per minute, helping them to conserve oxygen during long dives. Sinus bradycardia is a common condition found in both healthy individuals and those who are considered well-conditioned athletes. ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
GSK3B
Glycogen synthase kinase-3 beta, (GSK-3 beta), is an enzyme that in humans is encoded by the ''GSK3B'' gene. In mice, the enzyme is encoded by the Gsk3b gene. Abnormal regulation and expression of GSK-3 beta is associated with an increased susceptibility towards bipolar disorder. Function Glycogen synthase kinase-3 (GSK-3) is a proline-directed serine-threonine kinase that was initially identified as a phosphorylating and an inactivating agent of glycogen synthase. Two isoforms, alpha ( GSK3A) and beta, show a high degree of amino acid homology. GSK3B is involved in energy metabolism, neuronal cell development, and body pattern formation. It might be a new therapeutic target for ischemic stroke. Disease relevance Homozygous disruption of the Gsk3b locus in mice results in embryonic lethality during mid-gestation. This lethality phenotype could be rescued by inhibition of tumor necrosis factor. Two SNPs at this gene, rs334558 (-50T/C) and rs3755557 (-1727A/T), are associ ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
.jpg "Click for more on -> Fibroblast")
