Slc20a2 ala457thr
WebThe recently identified IBGC gene, SLC20A2, encodes for type III sodium-dependent phosphate transporter 2 and its loss-of-function mutations may lead to the regional accumulation of inorganic phosphate in the brain, causing calcium phosphate deposition. WebFeatures. Most 6' 8" single entry Therma-Tru doors are compatible with the Impressions integrated storm and entry door system. Inviting selection of door styles. Wide choice of …
Slc20a2 ala457thr
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WebJul 18, 2024 · Mutations in the SLC20A2 gene, encoding the PiT2 protein, are the major cause of the disease. Here, we report a Chinese PFBC family carrying a SLC20A2 gene … WebIndianapolis is a city in the United States of America. It is the state capital and the most-populous city in the state of Indiana. The state of Indiana was settled by Native …
WebMar 21, 2024 · SLC20A2 (Solute Carrier Family 20 Member 2) is a Protein Coding gene. Diseases associated with SLC20A2 include Basal Ganglia Calcification, Idiopathic, 1 and … WebSLC20A2 gene haploinsufficiency is a likely pathogenic mechanism of brain calcification; half dosage of SLC20A2 expression cannot maintain the phosphate transport demand in the brain (Baker et...
WebMutations in the SLC20A2 gene are associated with idiopathic basal ganglia calcification ( Fahr's syndrome ). This association suggests that familial idiopathic basal ganglia … WebCurrently, mutations in SLC20A2 gene have been identified as pathogenic for Familial idiopathic basal ganglia calcification. The SLC20A2 mutation leading to the accumulation …
WebSlc20a2-modified mice were maintained in SPF facilities under a 12 h light–dark cycle and provided free access to normal diet and clean water. The experimental Slc20a2 mice were
WebNov 17, 2024 · Studies have suggested that more than 50 variants of SLC20A2 gene mutations account for approximately 50% of IBGC cases. There is a wide spectrum of mutation types, including frameshift, nonsense, and splice site mutations in addition to deletion and missense mutations. Here we report a case of familial basal ganglia … extreme shed and shred before and afterWebSLC20A2 or XPR1 probably disrupt cerebral Pi homeostasis, eventually resulting in the accumulation of hydroxyapatite in the brain (Legati et al., 2015; Wang et al., 2012). On the other extreme shark adventureWebDec 5, 2024 · Based on the functions of the reported causative genes (SLC20A2, PDGFRB, PDGFB, XPR1, MYORG, and JAM2), the genetic etiology of PFBC can be classified into two categories: imbalance of inorganic phosphate (Pi) and dysfunction of the neurovascular unit (NVU) in the brain.The Pi levels in the cerebrospinal fluid (CSF) from PFBC patients are … extreme sharpshooterWebMay 7, 2024 · We evaluated the impact of the c.806delC mutation on SLC20A2 mRNA expression and found a 40–65% relative level in heterozygous carriers compared with controls, confirming that SLC20A2 haploinsufficiency causes brain calcification in the HB-PFBC family members ( Figure 1D ). extreme sheet metal hawaiiWebTo establish Slc20a2 homozygous knockout mice, we used the Slc20a2tm1a(EUCOMM)Wtsi alleleon aC57BL/6NTac background obtained from the European Mouse Mutant Archive. The targeting vector introduced a splice acceptor and SV40 polyadenylation sequences between the second and third cod-ing exons in Slc20a2, which leads to a premature stop of ... document shredding while you watchWebFeb 12, 2012 · This tissue-specific expression profile of SLC20A2 might explain regional vulnerability to the pathologic changes in IBGC, a disorder in which no calcification is … extreme sheet musicWebFeb 5, 2024 · Go to Variation Viewer for SLC20A2 variants Summary This gene encodes a member of the inorganic phosphate transporter family. The encoded protein is a type 3 … extreme shed and shred