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TWIST2
Twist-related protein 2 is a protein that in humans is encoded by the ''TWIST2'' gene. The protein encoded by this gene is a basic helix-loop-helix (bHLH) transcription factor and shares similarity with another bHLH transcription factor, TWIST1. bHLH transcription factors have been implicated in cell lineage determination and differentiation. It is thought that during osteoblast Osteoblasts (from the Greek combining forms for " bone", ὀστέο-, ''osteo-'' and βλαστάνω, ''blastanō'' "germinate") are cells with a single nucleus that synthesize bone. However, in the process of bone formation, osteoblasts fu ... development, this protein may inhibit osteoblast maturation and maintain cells in a preosteoblast phenotype. Interactions TWIST2 has been shown to interact with SREBF1. Clinical significance Mutations in the ''TWIST2'' gene that alter DNA-binding activity through both dominant-negative and gain-of-function effects are associated with ablepharon macros ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Ablepharon Macrostomia Syndrome
Ablepharon macrostomia syndrome (AMS) is an extremely rare, autosomal dominant genetic disorder characterized by abnormal phenotypic appearances that primarily affect the head and face as well as the skull, skin, fingers and genitals. AMS generally results in abnormal ectoderm-derived structures. The most prominent abnormality is the underdevelopment (microblepharon) or absence of eyelids – signifying the ablepharon aspect of the disease – and a wide, fish-like mouth – macrostomia. Recent scholars and surgeons have called into question the naming of the condition as "Ablepharon" on account of recent investigation and histology showing consistent evidence of at least some eyelid tissue. Infants presenting with AMS may also have malformations of the abdominal wall and nipples. Children with AMS might also experience issues with learning development, language difficulties and intellectual disabilities. AMS is caused by mutations in the ''TWIST2'' gene, among others. It is clo ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Barber–Say Syndrome
Barber-Say syndrome (BSS) is a very rare congenital disorder associated with excessive hair growth (hypertrichosis), fragile (atrophic) skin, eyelid deformities (ectropion), and an overly broad mouth ( macrostomia). Barber-Say syndrome is phenotypically similar to Ablepharon macrostomia syndrome, which is also associated with dominant mutations in ''TWIST2''. Signs and symptoms * Severe hypertrichosis, especially of the back * Skin abnormalities, including hyperlaxity and redundancy * Facial dysmorphism, including macrostomia * Eyelid deformities * Abnormal and low-set ears * Bulbous nasal tip with hypoplastic alae nasi * Low frontal hairline Genetics Multiple cases of parent-to-child transmission suggest that Barber-Say syndrome exhibits autosomal dominant inheritance. Exome sequencing and expression studies have shown that BSS is caused by mutations in the ''TWIST2'' gene that affect a highly conserved residue of TWIST2 (twist-related protein 2). TWIST2 is a basic helix-loo ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
TWIST1
Twist-related protein 1 (TWIST1) also known as class A basic helix–loop–helix protein 38 (bHLHa38) is a basic helix-loop-helix transcription factor that in humans is encoded by the ''TWIST1'' gene. Function Basic helix-loop-helix (bHLH) transcription factors have been implicated in cell lineage determination and differentiation. The protein encoded by this gene is a bHLH transcription factor and shares similarity with another bHLH transcription factor, Dermo1 (a.k.a. TWIST2). The strongest expression of this mRNA is in placental tissue; in adults, mesodermally derived tissues express this mRNA preferentially. Twist1 is thought to regulate osteogenic lineage. Clinical significance Mutations in the ''TWIST1'' gene are associated with Saethre–Chotzen syndrome, breast cancer, and Sézary syndrome. Craniosynostosis TWIST1 mutations are involved in a number of craniosynostosis presentations. It can present in nonsyndromic forms (isolated scaphocephaly, right unicor ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
SREBF1
Sterol regulatory element-binding transcription factor 1 (SREBF1) also known as sterol regulatory element-binding protein 1 (SREBP-1) is a protein that in humans is encoded by the ''SREBF1'' gene. This gene is located within the Smith–Magenis syndrome region on chromosome 17. Two transcript variants encoding different isoforms have been found for this gene. The isoforms are SREBP-1a and SREBP-1c (the latter also called ADD-1). SREBP-1a is expressed in the intestine and spleen, whereas SREBP-1c is mainly expressed in liver, muscle, and fat (among other tissues). Expression The proteins encoded by this gene are transcription factors that bind to a sequence in the promoter of different genes, called sterol regulatory element-1 (SRE1). This element is a decamer (oligomer with ten subunits) flanking the LDL receptor gene and other genes involved in, for instance, sterol biosynthesis. The protein is synthesized as a precursor that is attached to the nuclear membrane and endopla ... [...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] |
Gene
In biology, the word gene has two meanings. The Mendelian gene is a basic unit of heredity. 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 non-coding genes. During gene expression (the synthesis of Gene product, RNA or protein from a gene), DNA is first transcription (biology), copied into RNA. RNA can be non-coding RNA, directly functional or be the intermediate protein biosynthesis, template for the synthesis of a protein. The transmission of genes to an organism's offspring, is the basis of the inheritance of phenotypic traits from one generation to the next. These genes make up different DNA sequences, together called a genotype, that is specific to every given individual, within the gene pool of the population (biology), population of a given species. The genotype, along with environmental and developmental factors, ultimately determines the phenotype ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Basic Helix-loop-helix
Basic or BASIC may refer to: Science and technology * BASIC, a computer programming language * Basic (chemistry), having the properties of a base * Basic access authentication, in HTTP Entertainment * ''Basic'' (film), a 2003 film * Basic, one of the languages in ''Star Wars'' Music * ''Basic'' (Glen Campbell album), 1978 * ''Basic'' (Robert Quine and Fred Maher album), 1984 * ''B.A.S.I.C.'' (Alpinestars album), 2000 * ''Basic'' (Brown Eyed Girls album), 2015 * ''B.A.S.I.C.'' (The Basics album), 2019 Places * Basic, Mississippi, a community in the US * BASIC countries, Brazil, South Africa, India and China in climate change negotiations Organizations * BASIC Bank Limited, government owned bank in Bangladesh * Basic Books, an American publisher Other uses * Basic (cigarette), a brand of cigarettes manufactured by the Altria Group (Philip Morris Company) * Basic (dance move), the dance move that defines the character of a particular dance * Basic (slang), a pejorative t ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Transcription Factor
In molecular biology, a transcription factor (TF) (or sequence-specific DNA-binding factor) is a protein that controls the rate of transcription (genetics), transcription of genetics, genetic information from DNA to messenger RNA, by binding to a specific DNA sequence. The function of TFs is to regulate—turn on and off—genes in order to make sure that they are Gene expression, expressed in the desired Cell (biology), cells at the right time and in the right amount throughout the life of the cell and the organism. Groups of TFs function in a coordinated fashion to direct cell division, cell growth, and cell death throughout life; cell migration and organization (body plan) during embryonic development; and intermittently in response to signals from outside the cell, such as a hormone. There are approximately 1600 TFs in the human genome. Transcription factors are members of the proteome as well as regulome. TFs work alone or with other proteins in a complex, by promoting (a ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Osteoblast
Osteoblasts (from the Greek combining forms for " bone", ὀστέο-, ''osteo-'' and βλαστάνω, ''blastanō'' "germinate") are cells with a single nucleus that synthesize bone. However, in the process of bone formation, osteoblasts function in groups of connected cells. Individual cells cannot make bone. A group of organized osteoblasts together with the bone made by a unit of cells is usually called the osteon. Osteoblasts are specialized, terminally differentiated products of mesenchymal stem cells. They synthesize dense, crosslinked collagen and specialized proteins in much smaller quantities, including osteocalcin and osteopontin, which compose the organic matrix of bone. In organized groups of disconnected cells, osteoblasts produce hydroxyapatite, the bone mineral, that is deposited in a highly regulated manner, into the inorganic matrix forming a strong and dense mineralized tissue, the mineralized matrix. Hydroxyapatite-coated bone implants often perfo ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Muller's Morphs
Hermann J. Muller (1890–1967), who was a 1946 Nobel Prize winner, coined the terms amorph, hypomorph, hypermorph, antimorph and neomorph to classify mutations based on their behaviour in various genetic situations, as well as gene interaction between themselves.Muller, H. J. 1932. Further studies on the nature and causes of gene mutations. ''Proceedings of the 6th International Congress of Genetics'', pp. 213–255. These classifications are still widely used in ''Drosophila'' genetics to describe mutations. For a more general description of mutations, see mutation, and for a discussion of allele interactions, see dominance relationship. ''Key: In the following sections, alleles are referred to as +=wildtype, m=mutant, Df=gene deletion, Dp=gene duplication. Phenotypes are compared with '>', meaning 'phenotype is more severe than Loss of function Amorph Amorphic describes a mutation that causes complete loss of gene function. Amorph is sometimes used interchangeably w ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
