Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification
Tóm tắt
Từ khóa
Tài liệu tham khảo
Sobrido MJ, Hopfer S, Geschwind DH (2007) Familial idiopathic basal ganglia calcification. In: Pagon R, Bird T, Dolan C, (eds.) GeneReviews [Internet]. Seattle WA
Moskowitz M, Winickoff R, Heinz E (1971) Familial calcification of the basal ganglions: a metabolic and genetic study. N Engl J Med 285(2):72–77
Brodaty H, Mitchell P, Luscombe G, Kwok JJ, Badenhop RF, McKenzie R et al (2002) Familial idiopathic basal ganglia calcification (Fahr's disease) without neurological, cognitive and psychiatric symptoms is not linked to the IBGC1 locus on chromosome 14q. Hum Genet 110(1):8–14
Koller WC, Cochran JW, Klawans HL (1979) Calcification of the basal ganglia: computerized tomography and clinical correlation. Neurology 29(3):328–333
Harrington MG, Macpherson P, McIntosh WB, Allam BF, Bone I (1981) The significance of the incidental finding of basal ganglia calcification on computed tomography. J Neurol Neurosurg Psychiatry 44(12):1168–1170
Förstl H, Krumm B, Eden S, Kohlmeyer K (1991) What is the psychiatric significance of bilateral basal ganglia mineralization? Biol Psychiatry 29(8):827–833
Geschwind D, Loginov M, Stern J (1999) Identification of a locus on chromosome 14q for idiopathic basal ganglia calcification (Fahr disease). Am J Hum Genet 65(3):764–772
Volpato CBB, De Grandi A, Buffone E, Facheris M, Gebert U, Schifferle G et al (2009) 2q37 as a susceptibility locus for idiopathic basal ganglia calcification (IBGC) in a large South Tyrolean family. J Mol Neurosci 39(3):346–353
Dai X, Gao Y, Xu Z, Cui X, Liu J, Li Y et al (2010) Identification of a novel genetic locus on chromosome 8p21.1–q11.23 for idiopathic basal ganglia calcification. Am J Med Genet B Neuropsychiatr Genet 153B(7):1305–1310
Wang C, Li Y, Shi L, Ren J, Patti M, Wang T et al (2012) Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis. Nature Genetics 44:254–256
Ng PC, Henikoff S (2003) SIFT: predicting amino acid changes that affect protein function. Nucl Acids Res 31(13):3812–3814
Desmet FO, Hamroun D, Lalande M, Collod-Béroud G, Claustres M, Béroud C (2009) Human Splicing Finder: an online bioinformatics tool to predict splicing signals. Nucl Acids Res 37(9):e67
Adzhubei IA, Schmidt S, Peshkin L, Ramensky VE, Gerasimova A, Bork P et al (2010) A method and server for predicting damaging missense mutations. Nat Methods 7(4):248–249
Bøttger P, Pedersen L (2011) Mapping of the minimal inorganic phosphate transporting unit of human PiT2 suggests a structure universal to PiT-related proteins from all kingdoms of life. BMC Biochem 12(1):21
Oliveira JR, Spiteri E, Sobrido MJ, Hopfer S, Klepper J, Voit T et al (2004) Genetic heterogeneity in familial idiopathic basal ganglia calcification (Fahr disease). Neurology 63(11):2165–2167