메뉴 건너뛰기




Volumn , Issue JUL, 2013, Pages

Mutations at the SLC20A2 gene and brain resilience in families with idiopathic basal ganglia calcification ("Fahr's disease")

Author keywords

Fahr's Disease; Penetrance; Phosphate; Resilience; SCL20A2

Indexed keywords

AMINO ACID SEQUENCE; ARTICLE; BRAIN FUNCTION; BRAIN RESILIENCE; FAHR DISEASE; GENE EXPRESSION; GENE MUTATION; GENETIC ASSOCIATION; GENETIC DAMAGE; GENETIC HETEROGENEITY; GENETIC VARIABILITY; HAPLOINSUFFICIENCY; HETEROZYGOTE; HUMAN; LINKAGE ANALYSIS; MOLECULAR DYNAMICS; MUTATOR GENE; NONHUMAN; PENETRANCE; PHENOTYPE; PROTEIN FOLDING; SLC20A2 GENE;

EID: 84933678922     PISSN: 16625161     EISSN: 16625161     Source Type: Journal    
DOI: 10.3389/fnhum.2013.00420     Document Type: Article
Times cited : (12)

References (12)
  • 2
    • 83055180178 scopus 로고    scopus 로고
    • Predicting mutation outcome from early stochastic variation in genetic interaction partners
    • Burga, A., Casanueva, O. M., and Lehner, B. (2011). Predicting mutation outcome from early stochastic variation in genetic interaction partners. Nature 7376, 250-253.
    • (2011) Nature , vol.7376 , pp. 250-253
    • Burga, A.1    Casanueva, O.M.2    Lehner, B.3
  • 3
    • 0033358650 scopus 로고    scopus 로고
    • Identification of a locus on chromosome 14q for idiopathic basal ganglia calcification (Fahr's Disease)
    • 764-672
    • Geschwind, D.H., Loginov, M., and Stern, J.M. (1999). Identification of a locus on chromosome 14q for idiopathic basal ganglia calcification (Fahr's Disease). A.J. Hum. Genet. 65, 764-672.
    • (1999) A.J. Hum. Genet , vol.65
    • Geschwind, D.H.1    Loginov, M.2    Stern, J.M.3
  • 6
    • 79955806729 scopus 로고    scopus 로고
    • Population and computational analysis of the P521A MGEA6 variation as a risk factor for idiopathic basal ganglia calcification (Fahr's Disease)
    • Lemos, R.R., Oliveira, D. F., Zatz, M., and Oliveira, J.R.M. (2011). Population and computational analysis of the P521A MGEA6 variation as a risk factor for idiopathic basal ganglia calcification (Fahr's Disease). J. Mol. Neurosci. 43, 333-336.
    • (2011) J. Mol. Neurosci , vol.43 , pp. 333-336
    • Lemos, R.R.1    Oliveira, D.F.2    Zatz, M.3    Oliveira, J.R.M.4
  • 7
    • 14044252284 scopus 로고    scopus 로고
    • What is and what is not 'Fahr's Disease'
    • Manyam, B. (2005). What is and what is not 'Fahr's Disease'. Parkinsonism. Relat. Disord. 11, 73-80.
    • (2005) Parkinsonism. Relat. Disord , vol.11 , pp. 73-80
    • Manyam, B.1
  • 8
    • 84873693930 scopus 로고    scopus 로고
    • Mutation of the PDGFRB gene as a cause of idiopathic basal ganglia calcification
    • Nicolas, G., Pottier, C., Maltête D et al. (2013). Mutation of the PDGFRB gene as a cause of idiopathic basal ganglia calcification. Neurology. 2, 181-187.
    • (2013) Neurology , vol.2 , pp. 181-187
    • Nicolas, G.1    Pottier, C.2    Maltête, D.3
  • 9
    • 70349097570 scopus 로고    scopus 로고
    • A genome wide scan for familial idiopathic basal ganglia calcification (Fahr's disease) identifies new candidate regions and confirms genetic heterogeneity
    • Oliveira, J.R.M., Hopfer, S., Papp J et al. (2003). A genome wide scan for familial idiopathic basal ganglia calcification (Fahr's disease) identifies new candidate regions and confirms genetic heterogeneity. Am. J. Hum. Genet. 5, 570
    • (2003) Am. J. Hum. Genet , vol.5 , pp. 570
    • Oliveira, J.R.M.1    Hopfer, S.2    Papp, J.3
  • 10
    • 80054960788 scopus 로고    scopus 로고
    • Calcium Phosphate Deposition with Normal Phosphate Concentration-Role of Pyrophosphate-Circ
    • Villa-Bellosta, R., and Sorribas, V. (2011). Calcium Phosphate Deposition with Normal Phosphate Concentration-Role of Pyrophosphate-Circ. J. 75, 2705-2710.
    • (2011) J , vol.75 , pp. 2705-2710
    • Villa-Bellosta, R.1    Sorribas, V.2
  • 11
    • 65949096839 scopus 로고    scopus 로고
    • The Na-Pi cotransporter PiT-2 (SLC20A2) is expressed in the apical membrane of rat renal proximal tubules and regulated by dietary Pi
    • Villa-Bellosta, R., Ravera, S., Sorribas, V., Stange, G., Levi, M., Murer, H., Biber, J., and Forster, I.C. (2009). The Na-Pi cotransporter PiT-2 (SLC20A2) is expressed in the apical membrane of rat renal proximal tubules and regulated by dietary Pi. Am. J. Physiol. Renal Physiol. 296, 691-699.
    • (2009) Am. J. Physiol. Renal Physiol , vol.296 , pp. 691-699
    • Villa-Bellosta, R.1    Ravera, S.2    Sorribas, V.3    Stange, G.4    Levi, M.5    Murer, H.6    Biber, J.7    Forster, I.C.8
  • 12
    • 84862798098 scopus 로고    scopus 로고
    • Mutations of SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis
    • Wang, C., Li, Y., Shi, L., Ren, Jie., Patti, M. et al. (2012). Mutations of SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis. Nat. Genet. 44, 254-256.
    • (2012) Nat. Genet , vol.44 , pp. 254-256
    • Wang, C.1    Li, Y.2    Shi, L.3    Ren, J.4    Patti, M.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.