메뉴 건너뛰기




Volumn 93, Issue 5, 2013, Pages 798-811

Erratum: SCRIB and PUF60 Are Primary Drivers of the Multisystemic Phenotypes of the 8q24.3 Copy-Number Variant (The American Journal of Human Genetics (2013) 93(5) (798–811) (S0002929713004230) (10.1016/j.ajhg.2013.09.010));Scrib and puf60 are primary drivers of the multisystemic phenotypes of the 8q24.3 copy-Number variant

(17)  Dauber, Andrew a,b   Golzio, Christelle c   Guenot, Cécile d   Jodelka, Francine M e   Kibaek, Maria f   Kjaergaard, Susanne g   Leheup, Bruno h   Martinet, Danielle d   Nowaczyk, Malgorzata J M i   Rosenfeld, Jill A j   Zeesman, Susan i   Zunich, Janice k   Beckmann, Jacques S d   Hirschhorn, Joel N l   Hastings, Michelle L e   Jacquemont, Sebastien d   Katsanis, Nicholas c  


Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ALLELE; ANTEVERTED NOSTRIL; AORTA COARCTATION; ARTICLE; BIRTH DEFECT; BRAIN ATROPHY; CELL POLARITY; CHILD; CHROMOSOME 8; CHROMOSOME 8Q24.3 DELETION; CHROMOSOME DELETION; CLINICAL ARTICLE; CLINODACTYLY; COLOBOMA; CONGENITAL HEART MALFORMATION; CONTROLLED STUDY; COPY NUMBER VARIATION; ENDOPHENOTYPE; FEBRILE CONVULSION; FEMALE; GASTROESOPHAGEAL REFLUX; GENE; GENE INTERACTION; GENE REPRESSION; GROWTH RETARDATION; HEART VENTRICLE SEPTUM DEFECT; HIATUS HERNIA; HUMAN; INTELLECTUAL IMPAIRMENT; IRIS COLOBOMA; JOINT LAXITY; KIDNEY AGENESIS; LONG PHILTRUM; LOSS OF FUNCTION MUTATION; MALE; MICROCEPHALY; MIDDLE EAR MALFORMATION; NONHUMAN; NRBP2 GENE; PHENOTYPE; PNEUMONIA; PRESCHOOL CHILD; PRIORITY JOURNAL; PUF60 GENE; RESPIRATORY DISTRESS; SCHOOL CHILD; SCRIB GENE; SHORT STATURE; SPEECH DELAY; UPPER RESPIRATORY TRACT INFECTION;

EID: 84890154291     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2013.10.018     Document Type: Erratum
Times cited : (77)

References (76)
  • 3
    • 34347353237 scopus 로고    scopus 로고
    • Copy-number variation and association studies of human disease
    • McCarroll, S.A., and Altshuler, D.M. (2007). Copy-number variation and association studies of human disease. Nat. Genet. 39(Suppl), S37-S42.
    • (2007) Nat. Genet , vol.39 , pp. S37-S42
    • McCarroll, S.A.1    Altshuler, D.M.2
  • 12
    • 56749154242 scopus 로고    scopus 로고
    • Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities
    • Brunetti-Pierri, N., Berg, J.S., Scaglia, F., Belmont, J., Bacino, C.A., Sahoo, T., Lalani, S.R., Graham, B., Lee, B., Shinawi, M., et al. (2008). Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities. Nat. Genet. 40, 1466-1471.
    • (2008) Nat. Genet , vol.40 , pp. 1466-1471
    • Brunetti-Pierri, N.1    Berg, J.S.2    Scaglia, F.3    Belmont, J.4    Bacino, C.A.5    Sahoo, T.6    Lalani, S.R.7    Graham, B.8    Lee, B.9    Shinawi, M.10
  • 13
    • 84860012868 scopus 로고    scopus 로고
    • The genetic variability and commonality of neurodevelopmental disease
    • C. Semin. Med. Genet
    • Coe, B.P., Girirajan, S., and Eichler, E.E. (2012). The genetic variability and commonality of neurodevelopmental disease. Am. J. Med. Genet. C. Semin. Med. Genet. 160C, 118-129.
    • (2012) Am. J. Med. Genet , vol.160 , pp. 118-129
    • Coe, B.P.1    Girirajan, S.2    Eichler, E.E.3
  • 22
    • 84863685348 scopus 로고    scopus 로고
    • A duplication CNV that conveys traits reciprocal to metabolic syndrome and protects against diet-induced obesity in mice and men
    • Lacaria, M., Saha, P., Potocki, L., Bi, W., Yan, J., Girirajan, S., Burns, B., Elsea, S., Walz, K., Chan, L., et al. (2012). A duplication CNV that conveys traits reciprocal to metabolic syndrome and protects against diet-induced obesity in mice and men. PLoS Genet. 8, e1002713.
    • (2012) PLoS Genet , vol.8 , pp. e1002713
    • Lacaria, M.1    Saha, P.2    Potocki, L.3    Bi, W.4    Yan, J.5    Girirajan, S.6    Burns, B.7    Elsea, S.8    Walz, K.9    Chan, L.10
  • 24
    • 0037965627 scopus 로고    scopus 로고
    • Modeling del 17)(p11.2p11.2) and dup (17)(p11.2p11.2) contiguous gene syndromes by chromosome engineering in mice: Phenotypic consequences of gene Dosage tmbalance
    • Walz, K., Caratini-Rivera, S., Bi, W., Fonseca, P., Mansouri, D.L., Lynch, J., Vogel, H., Noebels, J.L., Bradley, A., and Lupski, J.R. (2003). Modeling del(17)(p11.2p11.2) and dup(17)(p11.2p11.2) contiguous gene syndromes by chromosome engineering in mice: phenotypic consequences of gene dosage imbalance. Mol. Cell. Biol. 23, 3646-3655.
    • (2003) Mol. Cell. Biol. 23 , pp. 3646-3655
    • Walz, K.1    Caratini-Rivera, S.2    Bi, W.3    Fonseca, P.4    Mansouri, D.L.5    Lynch, J.6    Vogel, H.7    Noebels, J.L.8    Bradley, A.9    Lupski, J.R.10
  • 25
    • 8444222330 scopus 로고    scopus 로고
    • Reduced penetrance of craniofacial anomalies as a function of deletion size and genetic background in a chromosome engineered partial mouse model for Smith-Magenis syndrome
    • Yan, J., Keener, V.W., Bi, W., Walz, K., Bradley, A., Justice, M.J., and Lupski, J.R. (2004). Reduced penetrance of craniofacial anomalies as a function of deletion size and genetic background in a chromosome engineered partial mouse model for Smith-Magenis syndrome. Hum. Mol. Genet. 13, 2613-2624.
    • (2004) Hum. Mol. Genet , vol.13 , pp. 2613-2624
    • Yan, J.1    Keener, V.W.2    Bi, W.3    Walz, K.4    Bradley, A.5    Justice, M.J.6    Lupski, J.R.7
  • 26
    • 42649136554 scopus 로고    scopus 로고
    • CORGI consortium; EPICOLON consortium 2008 a genome-wide association study identifies colorectal cancer susceptibility loci on chromosomes 10p14 and 8q23.3
    • Tomlinson, I.P., Webb, E., Carvajal-Carmona, L., Broderick, P., Howarth, K., Pittman, A.M., Spain, S., Lubbe, S., Walther, A., Sullivan, K., et al.; CORGI Consortium; EPICOLON Consortium. (2008). A genome-wide association study identifies colorectal cancer susceptibility loci on chromosomes 10p14 and 8q23.3. Nat. Genet. 40, 623-630.
    • Nat. Genet , vol.40 , pp. 623-630
    • Tomlinson, I.P.1    Webb, E.2    Carvajal-Carmona, L.3    Broderick, P.4    Howarth, K.5    Pittman, A.M.6    Spain, S.7    Lubbe, S.8    Walther, A.9    Sullivan, K.10
  • 27
    • 84859904328 scopus 로고    scopus 로고
    • 8q23.3 and 11q23.1 as modifying loci influencing the risk for CRC in Lynch syndrome
    • author reply 488
    • Talseth-Palmer, B.A., Scott, R.J., Vasen, H.F., and Wijnen, J.T. (2012). 8q23.3 and 11q23.1 as modifying loci influencing the risk for CRC in Lynch syndrome. Eur. J. Hum. Genet. 20, 487-488, author reply 488.
    • (2012) Eur. J. Hum. Genet , vol.20 , pp. 487-488
    • Talseth-Palmer, B.A.1    Scott, R.J.2    Vasen, H.F.3    Wijnen, J.T.4
  • 30
    • 0024581452 scopus 로고
    • Tricho-rhino-phalangeal syndrome type i with severe mental retardation due to interstitial deletion of 8q23.3-24.13
    • Yamamoto, Y., Oguro, N., Miyao, M., and Yanagisawa, M. (1989). Tricho-rhino-phalangeal syndrome type I with severe mental retardation due to interstitial deletion of 8q23.3-24.13. Am. J. Med. Genet. 32, 133-135.
    • (1989) Am. J. Med. Genet , vol.32 , pp. 133-135
    • Yamamoto, Y.1    Oguro, N.2    Miyao, M.3    Yanagisawa, M.4
  • 31
    • 0024328057 scopus 로고
    • Partial trisomy of distal 8q derived from mother with mosaic 8q23.3-24.13 deletion, and relatively mild expression of trichorhinophalangeal syndrome i
    • Naritomi, K., and Hirayama, K. (1989). Partial trisomy of distal 8q derived from mother with mosaic 8q23.3-24.13 deletion, and relatively mild expression of trichorhinophalangeal syndrome I. Hum. Genet. 82, 199-201.
    • (1989) Hum. Genet , vol.82 , pp. 199-201
    • Naritomi, K.1    Hirayama, K.2
  • 32
    • 0026785160 scopus 로고
    • Partial trisomy 8q Two case reports with maternal translocation and inverted insertion: Phenotype analyses and reflections on the risk
    • Stengel-Rutkowski, S., Lohse, K., Herzog, C., Apacik, C., Couturier, J., Albert, A., and Belohradsky, B. (1992). Partial trisomy 8q. Two case reports with maternal translocation and inverted insertion: phenotype analyses and reflections on the risk. Clin. Genet. 42, 178-185.
    • (1992) Clin. Genet , vol.42 , pp. 178-185
    • Stengel-Rutkowski, S.1    Lohse, K.2    Herzog, C.3    Apacik, C.4    Couturier, J.5    Albert, A.6    Belohradsky, B.7
  • 33
    • 75449101191 scopus 로고    scopus 로고
    • 8q23-q24 duplication-further delineation of a rare chromosomal abnormality
    • Wheeler, P.G. (2010). 8q23-q24 duplication-further delineation of a rare chromosomal abnormality. Am. J. Med. Genet. A. 152A, 459-463.
    • (2010) Am. J. Med. Genet. A , vol.152 , pp. 459-463
    • Wheeler, P.G.1
  • 34
    • 0023128845 scopus 로고
    • A final word on the tricho-rhino-phalangeal syndromes
    • Bühler, E.M., Bühler, U.K., Beutler, C., and Fessler, R. (1987). A final word on the tricho-rhino-phalangeal syndromes. Clin. Genet. 31, 273-275.
    • (1987) Clin. Genet , vol.31 , pp. 273-275
    • Bühler, E.M.1    Bühler, U.K.2    Beutler, C.3    Fessler, R.4
  • 35
    • 57149084280 scopus 로고    scopus 로고
    • Clinical and molecular characterization of a patient with Langer-Giedion syndrome and mosaic del 8)(q22.3q24.13)
    • Shanske, A.L., Patel, A., Saukam, S., Levy, B., and Lüdecke, H.J. (2008). Clinical and molecular characterization of a patient with Langer-Giedion syndrome and mosaic del(8)(q22.3q24.13). Am. J. Med. Genet. A. 146A, 3211-3216.
    • (2008) Am. J. Med. Genet. A , vol.146 , pp. 3211-3216
    • Shanske, A.L.1    Patel, A.2    Saukam, S.3    Levy, B.4    Lüdecke, H.J.5
  • 36
    • 1842865325 scopus 로고    scopus 로고
    • Multiple exostoses, mental retardation, hypertrichosis, and brain abnormalities in a boy with a de novo 8q24 submicroscopic interstitial deletion
    • Wuyts, W., Roland, D., Lüdecke, H.J., Wauters, J., Foulon, M., Van Hul, W., and Van Maldergem, L. (2002). Multiple exostoses, mental retardation, hypertrichosis, and brain abnormalities in a boy with a de novo 8q24 submicroscopic interstitial deletion. Am. J. Med. Genet. 113, 326-332.
    • (2002) Am. J. Med. Genet , vol.113 , pp. 326-332
    • Wuyts, W.1    Roland, D.2    Lüdecke, H.J.3    Wauters, J.4    Foulon, M.5    Van Hul, W.6    Van Maldergem, L.7
  • 39
    • 39149083341 scopus 로고    scopus 로고
    • Control of pre-mRNA splicing by the general splicing factors PUF60 and U2AF(65
    • Hastings, M.L., Allemand, E., Duelli, D.M., Myers, M.P., and Krainer, A.R. (2007). Control of pre-mRNA splicing by the general splicing factors PUF60 and U2AF(65). PLoS ONE 2, e538.
    • (2007) PLoS ONE , vol.2 , pp. e538
    • Hastings, M.L.1    Allemand, E.2    Duelli, D.M.3    Myers, M.P.4    Krainer, A.R.5
  • 40
    • 84871393449 scopus 로고    scopus 로고
    • Whole exome sequencing reveals a novel mutation in CUL7 in a patient with an undiagnosed growth disorder
    • Dauber, A., Stoler, J., Hechter, E., Safer, J., and Hirschhorn, J.N. (2013). Whole exome sequencing reveals a novel mutation in CUL7 in a patient with an undiagnosed growth disorder. J. Pediatr. 162, 202-204, e1.
    • (2013) J. Pediatr , vol.162 , Issue.202-204 , pp. e1
    • Dauber, A.1    Stoler, J.2    Hechter, E.3    Safer, J.4    Hirschhorn, J.N.5
  • 41
    • 79953167422 scopus 로고    scopus 로고
    • Mutations in ORC1, encoding the largest subunit of the origin recognition complex, cause microcephalic primordial dwarfism resembling Meier-Gorlin syndrome
    • Bicknell, L.S., Walker, S., Klingseisen, A., Stiff, T., Leitch, A., Kerzendorfer, C., Martin, C.A., Yeyati, P., Al Sanna, N., Bober, M., et al. (2011). Mutations in ORC1, encoding the largest subunit of the origin recognition complex, cause microcephalic primordial dwarfism resembling Meier-Gorlin syndrome. Nat. Genet. 43, 350-355.
    • (2011) Nat. Genet , vol.43 , pp. 350-355
    • Bicknell, L.S.1    Walker, S.2    Klingseisen, A.3    Stiff, T.4    Leitch, A.5    Kerzendorfer, C.6    Martin, C.A.7    Yeyati, P.8    Al Sanna, N.9    Bober, M.10
  • 42
  • 47
    • 84863557893 scopus 로고    scopus 로고
    • Hooked! Modeling human disease in zebrafish
    • Santoriello, C., and Zon, L.I. (2012). Hooked! Modeling human disease in zebrafish. J. Clin. Invest. 122, 2337-2343.
    • (2012) J. Clin. Invest , vol.122 , pp. 2337-2343
    • Santoriello, C.1    Zon, L.I.2
  • 48
    • 84875136038 scopus 로고    scopus 로고
    • Phenotypic overlap in the contribution of individual genes to CNV pathogenicity revealed by cross-species computational analysis of single-gene mutations in humans, mice and zebrafish
    • Doelken, S.C., Köhler, S., Mungall, C.J., Gkoutos, G.V., Ruef, B.J., Smith, C., Smedley, D., Bauer, S., Klopocki, E., Schofield, P.N., et al. (2013). Phenotypic overlap in the contribution of individual genes to CNV pathogenicity revealed by cross-species computational analysis of single-gene mutations in humans, mice and zebrafish. Dis. Model. Mech. 6, 358-372.
    • (2013) Dis. Model. Mech , vol.6 , pp. 358-372
    • Doelken, S.C.1    Köhler, S.2    Mungall, C.J.3    Gkoutos, G.V.4    Ruef, B.J.5    Smith, C.6    Smedley, D.7    Bauer, S.8    Klopocki, E.9    Schofield, P.N.10
  • 51
    • 79959990108 scopus 로고    scopus 로고
    • Zebrafish as a model to study cardiac development and human cardiac disease
    • Bakkers, J. (2011). Zebrafish as a model to study cardiac development and human cardiac disease. Cardiovasc. Res. 91, 279-288.
    • (2011) Cardiovasc. Res , vol.91 , pp. 279-288
    • Bakkers, J.1
  • 52
    • 77649302419 scopus 로고    scopus 로고
    • Effect of vascular cadherin knockdown on zebrafish vasculature during development
    • Mitchell, I.C., Brown, T.S., Terada, L.S., Amatruda, J.F., and Nwariaku, F.E. (2010). Effect of vascular cadherin knockdown on zebrafish vasculature during development. PLoS ONE 5, e8807.
    • (2010) PLoS ONE , vol.5 , pp. e8807
    • Mitchell, I.C.1    Brown, T.S.2    Terada, L.S.3    Amatruda, J.F.4    Nwariaku, F.E.5
  • 53
    • 43049125844 scopus 로고    scopus 로고
    • Ndrg4 is required for normal myocyte proliferation during early cardiac development in zebrafish
    • Qu, X., Jia, H., Garrity, D.M., Tompkins, K., Batts, L., Appel, B., Zhong, T.P., and Baldwin, H.S. (2008). Ndrg4 is required for normal myocyte proliferation during early cardiac development in zebrafish. Dev. Biol. 317, 486-496.
    • (2008) Dev. Biol , vol.317 , pp. 486-496
    • Qu, X.1    Jia, H.2    Garrity, D.M.3    Tompkins, K.4    Batts, L.5    Appel, B.6    Zhong, T.P.7    Baldwin, H.S.8
  • 54
    • 42049089519 scopus 로고    scopus 로고
    • Wnt3a regulates the development of cardiac neural crest cells by modulating expression of cysteine-rich intestinal protein 2 in rhombomere 6
    • Sun, X., Zhang, R., Lin, X., and Xu, X. (2008). Wnt3a regulates the development of cardiac neural crest cells by modulating expression of cysteine-rich intestinal protein 2 in rhombomere 6. Circ. Res. 102, 831-839.
    • (2008) Circ. Res , vol.102 , pp. 831-839
    • Sun, X.1    Zhang, R.2    Lin, X.3    Xu, X.4
  • 55
    • 79954546158 scopus 로고    scopus 로고
    • Protein complexes that control renal epithelial polarity
    • Pieczynski, J., and Margolis, B. (2011). Protein complexes that control renal epithelial polarity. Am. J. Physiol. Renal Physiol. 300, F589-F601.
    • (2011) Am. J. Physiol. Renal Physiol , vol.300 , pp. F589-F601
    • Pieczynski, J.1    Margolis, B.2
  • 59
    • 68349155685 scopus 로고    scopus 로고
    • The apical/basal-polarity determinant Scribble cooperates with the PCP core factor Stbm/Vang and functions as one of its effectors
    • Courbard, J.R., Djiane, A., Wu, J., and Mlodzik, M. (2009). The apical/basal-polarity determinant Scribble cooperates with the PCP core factor Stbm/Vang and functions as one of its effectors. Dev. Biol. 333, 67-77.
    • (2009) Dev. Biol , vol.333 , pp. 67-77
    • Courbard, J.R.1    Djiane, A.2    Wu, J.3    Mlodzik, M.4
  • 61
    • 84859227651 scopus 로고    scopus 로고
    • Regulation of retinal progenitor expansion by Frizzled receptors: Implications for microphthalmia and retinal coloboma
    • Liu, C., Bakeri, H., Li, T., and Swaroop, A. (2012). Regulation of retinal progenitor expansion by Frizzled receptors: implications for microphthalmia and retinal coloboma. Hum. Mol. Genet. 21, 1848-1860.
    • (2012) Hum. Mol. Genet , vol.21 , pp. 1848-1860
    • Liu, C.1    Bakeri, H.2    Li, T.3    Swaroop, A.4
  • 63
    • 57149088848 scopus 로고    scopus 로고
    • Ocular coloboma and dorsoventral neuroretinal patterning defects in Lrp6 mutant eyes
    • Zhou, C.J., Molotkov, A., Song, L., Li, Y., Pleasure, D.E., Pleasure, S.J., and Wang, Y.Z. (2008). Ocular coloboma and dorsoventral neuroretinal patterning defects in Lrp6 mutant eyes. Dev. Dyn. 237, 3681-3689.
    • (2008) Dev. Dyn , vol.237 , pp. 3681-3689
    • Zhou, C.J.1    Molotkov, A.2    Song, L.3    Li, Y.4    Pleasure, D.E.5    Pleasure, S.J.6    Wang, Y.Z.7
  • 64
    • 0036703473 scopus 로고    scopus 로고
    • Regulation of synaptic plasticity and synaptic vesicle dynamics by the PDZ protein Scribble
    • Roche, J.P., Packard, M.C., Moeckel-Cole, S., and Budnik, V. (2002). Regulation of synaptic plasticity and synaptic vesicle dynamics by the PDZ protein Scribble. J. Neurosci. 22, 6471-6479.
    • (2002) J. Neurosci , vol.22 , pp. 6471-6479
    • Roche, J.P.1    Packard, M.C.2    Moeckel-Cole, S.3    Budnik, V.4
  • 65
    • 33845472291 scopus 로고    scopus 로고
    • Scrib controls Cdc42 localization and activity to promote cell polarization during astrocyte migration
    • Osmani, N., Vitale, N., Borg, J.P., and Etienne-Manneville, S. (2006). Scrib controls Cdc42 localization and activity to promote cell polarization during astrocyte migration. Curr. Biol. 16, 2395-2405.
    • (2006) Curr. Biol , vol.16 , pp. 2395-2405
    • Osmani, N.1    Vitale, N.2    Borg, J.P.3    Etienne-Manneville, S.4
  • 70
    • 0028144831 scopus 로고
    • The prespliceosome components SAP 49 and SAP 145 interact in a complex implicated in tethering U2 snRNP to the branch site
    • Champion-Arnaud, P., and Reed, R. (1994). The prespliceosome components SAP 49 and SAP 145 interact in a complex implicated in tethering U2 snRNP to the branch site. Genes Dev. 8, 1974-1983.
    • (1994) Genes Dev , vol.8 , pp. 1974-1983
    • Champion-Arnaud, P.1    Reed, R.2
  • 71
    • 0036218576 scopus 로고    scopus 로고
    • Half pint regulates alternative splice site selection in Drosophila
    • Van Buskirk, C., and Schüpbach, T. (2002). Half pint regulates alternative splice site selection in Drosophila. Dev. Cell 2, 343-353.
    • (2002) Dev. Cell , vol.2 , pp. 343-353
    • Van Buskirk, C.1    Schüpbach, T.2
  • 76
    • 84879885338 scopus 로고    scopus 로고
    • Genetic architecture of reciprocal CNVs
    • Golzio, C., and Katsanis, N. (2013). Genetic architecture of reciprocal CNVs. Curr. Opin. Genet. Dev. 23, 240-248.
    • (2013) Curr. Opin. Genet. Dev , vol.23 , pp. 240-248
    • Golzio, C.1    Katsanis, N.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.