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Volumn 82, Issue 3, 2012, Pages 292-294

Deletion of CUL4B leads to concordant phenotype in a monozygotic twin pair

Author keywords

[No Author keywords available]

Indexed keywords

CULLIN; CULLIN 4B; UNCLASSIFIED DRUG;

EID: 84861007906     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2011.01839.x     Document Type: Letter
Times cited : (22)

References (8)
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    • Mutations in CUL4B, which encodes a ubiquitin E3 ligase subunit, cause an X-linked mental retardation syndrome associated with aggressive outbursts, seizures, relative macrocephaly, central obesity, hypogonadism, pes cavus, and tremor.
    • Tarpey PS, Raymond FL, O'Meara S et al. Mutations in CUL4B, which encodes a ubiquitin E3 ligase subunit, cause an X-linked mental retardation syndrome associated with aggressive outbursts, seizures, relative macrocephaly, central obesity, hypogonadism, pes cavus, and tremor. Am J Hum Genet 2007: 80 (2): 345-352.
    • (2007) Am J Hum Genet , vol.80 , Issue.2 , pp. 345-352
    • Tarpey, P.S.1    Raymond, F.L.2    O'Meara, S.3
  • 2
    • 33847216248 scopus 로고    scopus 로고
    • Mutation in CUL4B, which encodes a member of cullin-RING ubiquitin ligase complex, causes X-linked mental retardation.
    • Zou Y, Liu Q, Chen B et al. Mutation in CUL4B, which encodes a member of cullin-RING ubiquitin ligase complex, causes X-linked mental retardation. Am J Hum Genet 2007: 80 (3): 561-566.
    • (2007) Am J Hum Genet , vol.80 , Issue.3 , pp. 561-566
    • Zou, Y.1    Liu, Q.2    Chen, B.3
  • 3
    • 80052733791 scopus 로고    scopus 로고
    • CUL4B-deficiency in humans: understanding the clinical consequences of impaired Cullin 4-RING E3 ubiquitin ligase function.
    • Kerzendorfer C, Hart L, Colnaghi R et al. CUL4B-deficiency in humans: understanding the clinical consequences of impaired Cullin 4-RING E3 ubiquitin ligase function. Mech Ageing Dev. 2011: 132 (8-9): 366-373.
    • (2011) Mech Ageing Dev , vol.132 , Issue.8-9 , pp. 366-373
    • Kerzendorfer, C.1    Hart, L.2    Colnaghi, R.3
  • 4
    • 0033835634 scopus 로고    scopus 로고
    • A new X linked mental retardation (XLMR) syndrome with short stature, small testes, muscle wasting, and tremor localises to Xq24-q25.
    • Cabezas DA, Slaugh R, Abidi F et al. A new X linked mental retardation (XLMR) syndrome with short stature, small testes, muscle wasting, and tremor localises to Xq24-q25. J Med Genet 2000: 37 (9): 663-668.
    • (2000) J Med Genet , vol.37 , Issue.9 , pp. 663-668
    • Cabezas, D.A.1    Slaugh, R.2    Abidi, F.3
  • 5
    • 73949155094 scopus 로고    scopus 로고
    • A novel nonsense mutation in CUL4B gene in three brothers with X-linked mental retardation syndrome.
    • Badura-Stronka M, Jamsheer A, Materna-Kiryluk A et al. A novel nonsense mutation in CUL4B gene in three brothers with X-linked mental retardation syndrome. Clin Genet 2010: 77 (2): 141-144.
    • (2010) Clin Genet , vol.77 , Issue.2 , pp. 141-144
    • Badura-Stronka, M.1    Jamsheer, A.2    Materna-Kiryluk, A.3
  • 6
    • 75149125167 scopus 로고    scopus 로고
    • Deletion of the CUL4B gene in a boy with mental retardation, minor facial anomalies, short stature, hypogonadism, and ataxia.
    • Isidor B, Pichon O, Baron S, David A, Le CC. Deletion of the CUL4B gene in a boy with mental retardation, minor facial anomalies, short stature, hypogonadism, and ataxia. Am J Med Genet A 2010: 152A (1): 175-180.
    • (2010) Am J Med Genet A , vol.152 A , Issue.1 , pp. 175-180
    • Isidor, B.1    Pichon, O.2    Baron, S.3    David, A.4    Le, C.C.5
  • 7
    • 0026678490 scopus 로고
    • Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation.
    • Allen RC, Zoghbi HY, Moseley AB, Rosenblatt HM, Belmont JW. Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation. Am J Hum Genet 1992: 51 (6): 1229-1239.
    • (1992) Am J Hum Genet , vol.51 , Issue.6 , pp. 1229-1239
    • Allen, R.C.1    Zoghbi, H.Y.2    Moseley, A.B.3    Rosenblatt, H.M.4    Belmont, J.W.5
  • 8
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    • Mutations in Cullin 4B result in a human syndrome associated with increased camptothecin-induced topoisomerase I-dependent DNA breaks.
    • Kerzendorfer C, Whibley A, Carpenter G et al. Mutations in Cullin 4B result in a human syndrome associated with increased camptothecin-induced topoisomerase I-dependent DNA breaks. Hum Mol Genet 2010: 19 (7): 1324-1334.
    • (2010) Hum Mol Genet , vol.19 , Issue.7 , pp. 1324-1334
    • Kerzendorfer, C.1    Whibley, A.2    Carpenter, G.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.