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CancerWEB ¿µ¿µ ÀÇÇлçÀü À¯»ç °Ë»ö °á°ú : 15 ÆäÀÌÁö: 8
glycogen storage disease type VII <disease> An autosomal recessive muscle glycogen storage disease in which there is deficient expression of muscle phosphofructokinase activity, resulting in increased concentrations of glucose-6-phosphate and fructose-6-phosphate and low concentrations of fructose-1,6-diphosphate in muscle tissue.
Glycogen storage in muscle is increased, perhaps due to activation of glycogen synthase by accumulated glucose-6-phosphate. It has been proposed that shunting of glucose-6-phosphate and fructose-6-phosphate into the pentose phosphate pathway may result in increased synthesis of purines and pyrimidines, causing hyperuricaemia and gout.
Erythrocytes from patients may show decreased phosphofructokinase activity and 2,3-diphosphoglycerate deficiency. Exercise intolerance is present and severe congenital muscular dystrophy has been reported.
Inheritance: autosomal recessive
(12 Dec 1998)
glycogen storage disease type VIII <disease> An x-linked recessive hepatic glycogen storage disease resulting from lack of expression of phosphorylase-b-kinase activity. Symptoms are relatively mild; hepatomegaly, increased liver glycogen, and decreased leukocyte phosphorylase are present. Liver shrinkage occurs in response to glucagon.
Inheritance: X-linked recessive
(12 Dec 1998)
V-type ATPase <enzyme> From eukaryotic endomembrane systems, including vacuoles, lysosomes, golgi apparatus, chromaffin granules and coated vesicles. One of three major classes of ion transport ATPase, characterised by a multi subunit structure and a lack of a phosphorylated intermediate.
Found in archaebacteria but not eubacteria, in the intracellular acidic vacuoles and in some proton pumping epithelia (e.g. Intercalated cells of kidney). A complex enzyme encoded by several genes, involved in ion translocation but does not act via phosphorylated enzyme intermediate
See: P-type ATPase.
Registry number: EC 3.6.1.-
Synonym: atpase, v-type, atpase, vacuolar, vacuolar atpase, v-atpase, vacuolar h+-atpase, vacuolar membrane h(+)-atpase, vha55 gene product, vma16 gene product
(26 Jun 1999)
Gm type <immunology> Genetically determined allotypic antigens found on IgG of some individuals.
(18 Nov 1997)
Golgi type II neuron <physiology> Nerve cells with short axons which ramify in the gray matter.
(05 Mar 2000)
Golgi type I neuron <physiology> Nerve cells whose long axons leave the gray matter of which they form a part.
(05 Mar 2000)
membrane-type 3 matrix metalloproteinase <enzyme> Sm3 is a soluble form of mt3-mmp, probably an alternatively sliced variant.
Registry number: EC 3.4.24.-
Synonym: mt3-mmp, sm3-mmp
(26 Jun 1999)
membrane-type 4 matrix metalloproteinase <enzyme> Cloned from breast carcinoma.
Registry number: EC 3.4.24.-
Synonym: mt4-mmp, mmp-17 gene product, mmp-17
(26 Jun 1999)
membrane-type matrix metalloproteinase <enzyme> Activates gelatinase a; isolated from a human placenta cdna gene library; contains a transmembrane domain; do not use for any other numbered matrix metalloproteinases; genbank d26512
Registry number: EC 3.4.24.-
Synonym: mt-mmp, mmp-x1 protein, matrix metalloproteinase, membrane-type, mmp14 gene product, mmp-14 gene product, mt1-mmp, matrix metalloproteinase 14, mt2-mmp, mmp15 gene product, mmp16 gene product
(26 Jun 1999)
retroviruses type b, mammalian A genus of the family retroviridae consisting of a few exogenous, vertically transmitted and endogenous viruses of mice. It is associated with mammary carcinoma and T-cell lymphoma.
(12 Dec 1998)
retroviruses type c, avian A genus of the family retroviridae with type c morphology, that causes malignant and other diseases in wild birds and domestic fowl.
(12 Dec 1998)
retroviruses type c, mammalian A genus of retroviridae comprising endogenous sequences in mammals, related reticuloendotheliosis viruses of birds, and a reptilian species. Many species contain oncogenes and cause leukaemias and sarcomas.
(12 Dec 1998)
retroviruses, type d A genus of the family retroviridae consisting of oncogenic exogenous retroviruses that contain type d particles. They include the type species, mason-pfiser monkey virus, isolated from mammary carcinoma and normal tissues in rhesus monkeys, and several other serotypes of simian type d retroviruses (retroviruses type d, simian), all of which cause simian aids (saids) and other malignancies. The permanent human fibroblast virus (pmfv) is also type d. The core of the type d viruses is the intracytoplasmic type a particle and its mechanism of budding from the cell membrane is similar to the type b oncoviruses.
(12 Dec 1998)
retroviruses type d, simian Type d retroviruses that cause simian acquired immunodeficiency syndrome (saids) and malignancies in monkeys. at least five serotypes of srv are recognised: srv-1, srv-2 (retrovirus-d/new england), srv-3 (mason-pfiser monkey virus), srv-4, and srv-5. Subcutaneous fibrosarcoma is associated with srv-1 infection and retroperitoneal fibromatosis is associated with srv-2 infection.
(12 Dec 1998)
grandiose type of paranoid disorder A delusion in which the person believes that he or she possesses some great but unrecognised talent or insight, or has made an important discovery, with subsequent efforts toward official or public recognition.
(05 Mar 2000)
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