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Patched
Patched (Ptc) is a conserved 12-pass transmembrane protein receptor that plays an obligate negative regulatory role in the Hedgehog signaling pathway in insects and vertebrates. Patched is an essential gene in embryogenesis for proper segmentation in the fly embryo, mutations in which may be embryonic lethal. Patched functions as the receptor for the Hedgehog protein and controls its spatial distribution, in part via endocytosis of bound Hedgehog protein, which is then targeted for lysosomal degradation. Discovery The original mutations in the ''ptc'' gene were discovered in the fruit fly ''Drosophila melanogaster'' by 1995 Nobel Laureates Eric F. Wieschaus and Christiane Nusslein-Volhard and colleagues, and the gene was independently cloned in 1989 by Joan Hooper in the laboratory of Matthew P. Scott, and by Philip Ingham and colleagues. Role in hedgehog signaling Patched is part of a negative feedback mechanism for hedgehog signaling that helps shape the sp ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Hedgehog Signaling Pathway
The Hedgehog signaling pathway is a signaling pathway that transmits information to embryonic cells required for proper cell differentiation. Different parts of the embryo have different concentrations of hedgehog signaling proteins. The pathway also has roles in the adult. Diseases associated with the malfunction of this pathway include cancer. The Hedgehog signaling pathway is one of the key regulators of animal development and is present in all bilaterians. The pathway takes its name from its polypeptide ligand, an intracellular signaling molecule called Hedgehog (''Hh'') found in fruit flies of the genus ''Drosophila''; fruit fly larva lacking the ''Hh'' gene are said to resemble hedgehogs. ''Hh'' is one of Drosophila's segment polarity gene products, involved in establishing the basis of the fly body plan. Larvae without ''Hh'' are short and spiny, resembling the hedgehog animal. The molecule remains important during later stages of embryogenesis and metamorphosis. Mamma ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Smoothened
Smoothened is a protein that in humans is encoded by the SMO gene. Smoothened is a Class Frizzled (Class F) G protein-coupled receptor that is a component of the hedgehog signaling pathway and is conserved from flies to humans. It is the molecular target of the natural teratogen cyclopamine. It also is the target of vismodegib, the first hedgehog pathway inhibitor to be approved by the U.S. Food and Drug Administration (FDA). Smoothened (Smo) is a key transmembrane protein that is a key component of the hedgehog signaling pathway, a cell-cell communication system critical for embryonic development and adult tissue homeostasis. Mutations in proteins that relay Hh signals between cells cause birth defects and cancer. The protein that carries the Hh signal across the membrane is the oncoprotein and G-protein coupled receptor (GPCR) Smoothened (Smo). Smo is regulated by a separate transmembrane receptor for Hh ligands called Patched (Ptc). Ptc itself is a tumor suppressor that keeps ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Medulloblastoma
Medulloblastoma is a common type of primary brain cancer in children. It originates in the part of the brain that is towards the back and the bottom, on the floor of the skull, in the cerebellum, or posterior fossa. The brain is divided into two main parts, the larger cerebrum on top and the smaller cerebellum below towards the back. They are separated by a membrane called the tentorium. Tumors that originate in the cerebellum or the surrounding region below the tentorium are, therefore, called infratentorial. Historically medulloblastomas have been classified as a primitive neuroectodermal tumor (PNET), but it is now known that medulloblastoma is distinct from supratentorial PNETs and they are no longer considered similar entities. Medulloblastomas are invasive, rapidly growing tumors that, unlike most brain tumors, spread through the cerebrospinal fluid and frequently metastasize to different locations along the surface of the brain and spinal cord. Metastasis all the way dow ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Drosophila Embryogenesis
''Drosophila'' embryogenesis, the process by which ''Drosophila'' (fruit fly) embryos form, is a favorite model system for genetics and developmental biology. The study of its embryogenesis unlocked the century-long puzzle of how development was controlled, creating the field of evolutionary developmental biology. The small size, short generation time, and large brood size make it ideal for genetic studies. Transparent embryos facilitate developmental studies. ''Drosophila melanogaster'' was introduced into the field of genetic experiments by Thomas Hunt Morgan in 1909. Life cycle ''Drosophila'' display a holometabolous method of development, meaning that they have three distinct stages of their post-embryonic life cycle, each with a radically different body plan: larva, pupa and finally, adult. The machinery necessary for the function and smooth transition between these three phases develops during embryogenesis. During embryogenesis, the larval stage fly will develop and ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
PTCH2
Patched 2 is a protein that in humans is encoded by the PTCH2 gene. Function This gene encodes a transmembrane receptor of the patched gene family. The encoded protein may function as a tumor suppressor in the hedgehog signaling pathway. Clinical significance Alterations in this gene have been associated with nevoid basal cell carcinoma syndrome, basal cell carcinoma, medulloblastoma Medulloblastoma is a common type of primary brain cancer in children. It originates in the part of the brain that is towards the back and the bottom, on the floor of the skull, in the cerebellum, or posterior fossa. The brain is divided into two ..., and susceptibility to congenital macrostomia. References Further reading * * * * * * * * * {{gene-1-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Sterol-sensing Domain
A sterol-sensing domain (SSD) is a protein domain which consists of 180 amino acids forming five transmembrane segments capable of binding sterol groups. This type of domain is present in proteins involved in cholesterol metabolism and signalling. Function Sterol-sensing domains are present in various proteins involved in key aspects of cholesterol homeostasis and signalling. Multiple sequence alignments using Clustal W have shown that these proteins can be grouped in seven different families according to their SSDs. The following SSD-containing proteins represent each family: *HMG-CoA reductase (HMGCR), involved in the biosynthesis of cholesterol. This was the first protein with an SSD to be discovered. Upon binding to cholesterol, this protein undergoes endoplasmic-reticulum-associated protein degradation. The SSD is not required for the catalytic activity of HMGCR. * SREBP cleavage-activating protein (SCAP), which regulates transcription of genes with sterol response elements b ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Philip Ingham
Philip William Ingham FRS, FMedSci, Hon. FRCP (born 19 March 1955 Liverpool) is a British geneticist, currently the Toh Kian Chui Distinguished Professor at the Lee Kong Chian School of Medicine, a partnership between Nanyang Technological University, Singapore and Imperial College, London. Previously, he was the inaugural Director of the Living Systems Institute at the University of Exeter, UK and prior to that was Vice Dean, Research at the Lee Kong Chian School of Medicine. Career Ingham was educated at Merchant Taylors' School, Crosby near Liverpool and then at Queens' College in the University of Cambridge where after initially reading Philosophy and Theology he graduated in Genetics. He gained his Doctorate of Philosophy from the University of Sussex under the supervision of J Robert S Whittle before moving to the Laboratoire de Génétique Moleculaire des Eukaryotes in Strasbourg, France, as a Royal Society European Exchange Programme fellow. He returned to the UK in 19 ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
PTCH1
Protein patched homolog 1 is a protein that is the member of the patched family and in humans is encoded by the ''PTCH1'' gene. Function PTCH1 is a member of the patched gene family and is the receptor for sonic hedgehog, a secreted molecule implicated in the formation of embryonic structures and in tumorigenesis. This gene functions as a tumor suppressor. The PTCH1 gene product, is a transmembrane protein that suppresses the release of another protein called smoothened, and when sonic hedgehog binds PTCH1, smoothened is released and signals cell proliferation. Clinical significance Mutations of this gene have been associated with nevoid basal cell carcinoma syndrome (AKA Gorlin's Syndrome), esophageal squamous cell carcinoma, trichoepitheliomas, transitional cell carcinomas of the bladder, as well as holoprosencephaly. Alternative splicing results in multiple transcript variants encoding different isoforms. Additional splice variants have been described, but their full leng ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Human Proteins
Humans (''Homo sapiens'') are the most abundant and widespread species of primate, characterized by bipedalism and exceptional cognitive skills due to a large and complex brain. This has enabled the development of advanced tools, culture, and language. Humans are highly social and tend to live in complex social structures composed of many cooperating and competing groups, from families and kinship networks to political states. Social interactions between humans have established a wide variety of values, social norms, and rituals, which bolster human society. Its intelligence and its desire to understand and influence the environment and to explain and manipulate phenomena have motivated humanity's development of science, philosophy, mythology, religion, and other fields of study. Although some scientists equate the term ''humans'' with all members of the genus ''Homo'', in common usage, it generally refers to ''Homo sapiens'', the only extant member. Anatomically modern huma ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Gorlin Syndrome
Gorlin may refer to: People *Dan Gorlin, computer game programmer, designer and founder of Dan Gorlin Productions *Eitan Gorlin, filmmaker, author and actor *Mikhail Gorlin, Russian emigre poet *Richard Gorlin, American cardiologist, co-developed the Gorlin equation * Robert J. Gorlin, a professor and researcher at the University of Minnesota In medicine *Gorlin sign, the ability to touch the tip of the nose with the tongue and touch the elbow with the tongue *Gorlin syndrome Gorlin may refer to: People *Dan Gorlin, computer game programmer, designer and founder of Dan Gorlin Productions *Eitan Gorlin, filmmaker, author and actor *Mikhail Gorlin, Russian emigre poet *Richard Gorlin, American cardiologist, co-developed ..., also known as basal cell nevus syndrome *The Gorlin equation, a method to calculate the effective area of a heart valve during cardiac catheterization {{disambig ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Mutation
In biology, a mutation is an alteration in the nucleic acid sequence of the genome of an organism, virus, or extrachromosomal DNA. Viral genomes contain either DNA or RNA. Mutations result from errors during DNA or viral replication, mitosis, or meiosis or other types of damage to DNA (such as pyrimidine dimers caused by exposure to ultraviolet radiation), which then may undergo error-prone repair (especially microhomology-mediated end joining), cause an error during other forms of repair, or cause an error during replication (translesion synthesis). Mutations may also result from insertion or deletion of segments of DNA due to mobile genetic elements. Mutations may or may not produce detectable changes in the observable characteristics (phenotype) of an organism. Mutations play a part in both normal and abnormal biological processes including: evolution, cancer, and the development of the immune system, including junctional diversity. Mutation is the ultimate source o ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Rhabdomyosarcoma
Rhabdomyosarcoma (RMS) is a highly aggressive form of cancer that develops from mesenchymal cells that have failed to fully differentiate into myocytes of skeletal muscle. Cells of the tumor are identified as rhabdomyoblasts. There are four subtypes – embryonal rhabdomyosarcoma, alveolar rhabdomyosarcoma, pleomorphic rhabdomyosarcoma, and spindle cell/sclerosing rhabdomyosarcoma. Embryonal, and alveolar are the main groups, and these types are the most common soft tissue sarcomas of childhood and adolescence. The pleomorphic type is usually found in adults. It is generally considered to be a disease of childhood, as the vast majority of cases occur in those below the age of 18. It is commonly described as one of the small-blue-round-cell tumors of childhood due to its appearance on an H&E stain. Despite being relatively rare, it accounts for approximately 40% of all recorded soft tissue sarcomas. RMS can occur in any soft tissue site in the body, but is primarily found in t ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
