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Volumn 526, Issue 2, 2013, Pages 164-169

Analysis of the inheritance pattern of a Chinese family with phaeochromocytomas through whole exome sequencing

Author keywords

Inheritance pattern; Phaeochromocytomas; Sanger sequencing; Whole exome sequencing

Indexed keywords

ARTICLE; CASE REPORT; CELL ADHESION; DOMINANT INHERITANCE; EXOME; FEMALE; GENETIC SUSCEPTIBILITY; HAPLOTYPE MAP; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; INHERITANCE; MALE; PARAGANGLIOMA; PEDIGREE; PHEOCHROMOCYTOMA; PRIORITY JOURNAL; RECESSIVE INHERITANCE; WHOLE EXOME SEQUENCING;

EID: 84880757760     PISSN: 03781119     EISSN: 18790038     Source Type: Journal    
DOI: 10.1016/j.gene.2013.04.081     Document Type: Article
Times cited : (6)

References (34)
  • 1
    • 0036338150 scopus 로고    scopus 로고
    • Merlin-rapid analysis of dense genetic maps using sparse gene flow trees
    • Abecasis G.R., Cherny S.S., Cookson W.O., Cardon L.R. Merlin-rapid analysis of dense genetic maps using sparse gene flow trees. Nat. Genet. 2002, 30:97-101.
    • (2002) Nat. Genet. , vol.30 , pp. 97-101
    • Abecasis, G.R.1    Cherny, S.S.2    Cookson, W.O.3    Cardon, L.R.4
  • 2
    • 77951640946 scopus 로고    scopus 로고
    • A method and server for predicting damaging missense mutations
    • Adzhubei I.A., et al. A method and server for predicting damaging missense mutations. Nat. Methods 2010, 7:248-249.
    • (2010) Nat. Methods , vol.7 , pp. 248-249
    • Adzhubei, I.A.1
  • 3
    • 35748951614 scopus 로고    scopus 로고
    • Direct selection of human genomic loci by microarray hybridization
    • Albert T.J., et al. Direct selection of human genomic loci by microarray hybridization. Nat. Methods 2007, 4:903-905.
    • (2007) Nat. Methods , vol.4 , pp. 903-905
    • Albert, T.J.1
  • 4
    • 0034069495 scopus 로고    scopus 로고
    • Gene ontology: tool for the unification of biology. The Gene Ontology Consortium
    • Ashburner M., et al. Gene ontology: tool for the unification of biology. The Gene Ontology Consortium. Nat. Genet. 2000, 25:25-29.
    • (2000) Nat. Genet. , vol.25 , pp. 25-29
    • Ashburner, M.1
  • 6
    • 84858706936 scopus 로고    scopus 로고
    • A decade (2001-2010) of genetic testing for pheochromocytoma and paraganglioma
    • Buffet A., et al. A decade (2001-2010) of genetic testing for pheochromocytoma and paraganglioma. Horm. Metab. Res. 2012, 44:359-366.
    • (2012) Horm. Metab. Res. , vol.44 , pp. 359-366
    • Buffet, A.1
  • 7
    • 77958164441 scopus 로고    scopus 로고
    • SDHA is a tumor suppressor gene causing paraganglioma
    • Burnichon N., et al. SDHA is a tumor suppressor gene causing paraganglioma. Hum. Mol. Genet. 2010, 19:3011-3020.
    • (2010) Hum. Mol. Genet. , vol.19 , pp. 3011-3020
    • Burnichon, N.1
  • 8
    • 80053139912 scopus 로고    scopus 로고
    • Integrative genomic analysis reveals somatic mutations in pheochromocytoma and paraganglioma
    • Burnichon N., et al. Integrative genomic analysis reveals somatic mutations in pheochromocytoma and paraganglioma. Hum. Mol. Genet. 2011, 20:3974-3985.
    • (2011) Hum. Mol. Genet. , vol.20 , pp. 3974-3985
    • Burnichon, N.1
  • 9
    • 84861140704 scopus 로고    scopus 로고
    • MAX mutations cause hereditary and sporadic pheochromocytoma and paraganglioma
    • Burnichon N., et al. MAX mutations cause hereditary and sporadic pheochromocytoma and paraganglioma. Clin. Cancer Res. 2012, 18:2828-2837.
    • (2012) Clin. Cancer Res. , vol.18 , pp. 2828-2837
    • Burnichon, N.1
  • 10
    • 66149142195 scopus 로고    scopus 로고
    • Genetics of pheochromocytoma and paraganglioma in Spanish patients
    • Cascon A., et al. Genetics of pheochromocytoma and paraganglioma in Spanish patients. J. Clin. Endocrinol. Metab. 2009, 94:1701-1705.
    • (2009) J. Clin. Endocrinol. Metab. , vol.94 , pp. 1701-1705
    • Cascon, A.1
  • 11
    • 35948976628 scopus 로고    scopus 로고
    • The diagnosis and management of malignant phaeochromocytoma and paraganglioma
    • Chrisoulidou A., Kaltsas G., Ilias I., Grossman A.B. The diagnosis and management of malignant phaeochromocytoma and paraganglioma. Endocr. Relat. Cancer 2007, 14:569-585.
    • (2007) Endocr. Relat. Cancer , vol.14 , pp. 569-585
    • Chrisoulidou, A.1    Kaltsas, G.2    Ilias, I.3    Grossman, A.B.4
  • 12
    • 27544468721 scopus 로고    scopus 로고
    • Novel pheochromocytoma susceptibility loci identified by integrative genomics
    • Dahia P.L., et al. Novel pheochromocytoma susceptibility loci identified by integrative genomics. Cancer Res. 2005, 65:9651-9658.
    • (2005) Cancer Res. , vol.65 , pp. 9651-9658
    • Dahia, P.L.1
  • 13
    • 33751190284 scopus 로고    scopus 로고
    • Phaeochromocytoma, new genes and screening strategies
    • Gimenez-Roqueplo A.P., et al. Phaeochromocytoma, new genes and screening strategies. Clin. Endocrinol. (Oxf.) 2006, 65:699-705.
    • (2006) Clin. Endocrinol. (Oxf.) , vol.65 , pp. 699-705
    • Gimenez-Roqueplo, A.P.1
  • 14
    • 84860834761 scopus 로고    scopus 로고
    • An update on the genetics of paraganglioma, pheochromocytoma, and associated hereditary syndromes
    • Gimenez-Roqueplo A.P., Dahia P.L., Robledo M. An update on the genetics of paraganglioma, pheochromocytoma, and associated hereditary syndromes. Horm. Metab. Res. 2012, 44:328-333.
    • (2012) Horm. Metab. Res. , vol.44 , pp. 328-333
    • Gimenez-Roqueplo, A.P.1    Dahia, P.L.2    Robledo, M.3
  • 15
    • 61449172037 scopus 로고    scopus 로고
    • Systematic and integrative analysis of large gene lists using DAVID bioinformatics resources
    • Huang da W., Sherman B.T., Lempicki R.A. Systematic and integrative analysis of large gene lists using DAVID bioinformatics resources. Nat. Protoc. 2009, 4:44-57.
    • (2009) Nat. Protoc. , vol.4 , pp. 44-57
    • Huang da, W.1    Sherman, B.T.2    Lempicki, R.A.3
  • 16
    • 84856118165 scopus 로고    scopus 로고
    • The genetics of phaeochromocytoma: using clinical features to guide genetic testing
    • Jafri M., Maher E.R. The genetics of phaeochromocytoma: using clinical features to guide genetic testing. Eur. J. Endocrinol. 2012, 166:151-158.
    • (2012) Eur. J. Endocrinol. , vol.166 , pp. 151-158
    • Jafri, M.1    Maher, E.R.2
  • 17
    • 58149193234 scopus 로고    scopus 로고
    • STRING 8-a global view on proteins and their functional interactions in 630 organisms
    • Jensen L.J., et al. STRING 8-a global view on proteins and their functional interactions in 630 organisms. Nucleic Acids Res. 2009, 37:D412-D416.
    • (2009) Nucleic Acids Res. , vol.37
    • Jensen, L.J.1
  • 19
    • 0030728925 scopus 로고    scopus 로고
    • Allele-sharing models: LOD scores and accurate linkage tests
    • Kong A., Cox N.J. Allele-sharing models: LOD scores and accurate linkage tests. Am. J. Hum. Genet. 1997, 61:1179-1188.
    • (1997) Am. J. Hum. Genet. , vol.61 , pp. 1179-1188
    • Kong, A.1    Cox, N.J.2
  • 21
    • 66449114324 scopus 로고    scopus 로고
    • SNP detection for massively parallel whole-genome resequencing
    • Li R., et al. SNP detection for massively parallel whole-genome resequencing. Genome Res. 2009, 19:1124-1132.
    • (2009) Genome Res. , vol.19 , pp. 1124-1132
    • Li, R.1
  • 22
    • 67650711615 scopus 로고    scopus 로고
    • SOAP2: an improved ultrafast tool for short read alignment
    • Li R., et al. SOAP2: an improved ultrafast tool for short read alignment. Bioinformatics 2009, 25:1966-1967.
    • (2009) Bioinformatics , vol.25 , pp. 1966-1967
    • Li, R.1
  • 23
    • 84866367311 scopus 로고    scopus 로고
    • Hereditary pheochromocytoma and paraganglioma
    • Mazzaglia P.J. Hereditary pheochromocytoma and paraganglioma. J. Surg. Oncol. 2012.
    • (2012) J. Surg. Oncol.
    • Mazzaglia, P.J.1
  • 25
    • 0043048571 scopus 로고
    • Sequential tests for the detection of linkage
    • Morton N.E. Sequential tests for the detection of linkage. Am. J. Hum. Genet. 1955, 7:277-318.
    • (1955) Am. J. Hum. Genet. , vol.7 , pp. 277-318
    • Morton, N.E.1
  • 26
    • 4143105824 scopus 로고    scopus 로고
    • Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations
    • Neumann H.P., et al. Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations. JAMA 2004, 292:943-951.
    • (2004) JAMA , vol.292 , pp. 943-951
    • Neumann, H.P.1
  • 27
    • 0043122919 scopus 로고    scopus 로고
    • SIFT: predicting amino acid changes that affect protein function
    • Ng P.C., Henikoff S. SIFT: predicting amino acid changes that affect protein function. Nucleic Acids Res. 2003, 31:3812-3814.
    • (2003) Nucleic Acids Res. , vol.31 , pp. 3812-3814
    • Ng, P.C.1    Henikoff, S.2
  • 28
    • 73349110071 scopus 로고    scopus 로고
    • Exome sequencing identifies the cause of a Mendelian disorder
    • Ng S.B., et al. Exome sequencing identifies the cause of a Mendelian disorder. Nat. Genet. 2010, 42:30-35.
    • (2010) Nat. Genet. , vol.42 , pp. 30-35
    • Ng, S.B.1
  • 29
    • 0027373678 scopus 로고
    • Cloning of the ALL-1 fusion partner, the AF-6 gene, involved in acute myeloid leukemias with the t(6;11) chromosome translocation
    • Prasad R., et al. Cloning of the ALL-1 fusion partner, the AF-6 gene, involved in acute myeloid leukemias with the t(6;11) chromosome translocation. Cancer Res. 1993, 53:5624-5628.
    • (1993) Cancer Res. , vol.53 , pp. 5624-5628
    • Prasad, R.1
  • 30
    • 34548292504 scopus 로고    scopus 로고
    • PLINK: a tool set for whole-genome association and population-based linkage analyses
    • Purcell S., et al. PLINK: a tool set for whole-genome association and population-based linkage analyses. Am. J. Hum. Genet. 2007, 81:559-575.
    • (2007) Am. J. Hum. Genet. , vol.81 , pp. 559-575
    • Purcell, S.1
  • 31
    • 77649175595 scopus 로고    scopus 로고
    • Germline mutations in TMEM127 confer susceptibility to pheochromocytoma
    • Qin Y., et al. Germline mutations in TMEM127 confer susceptibility to pheochromocytoma. Nat. Genet. 2010, 42:229-233.
    • (2010) Nat. Genet. , vol.42 , pp. 229-233
    • Qin, Y.1
  • 32
    • 14444268087 scopus 로고    scopus 로고
    • The Ras target AF-6 is a substrate of the fam deubiquitinating enzyme
    • Taya S., et al. The Ras target AF-6 is a substrate of the fam deubiquitinating enzyme. J. Cell Biol. 1998, 142:1053-1062.
    • (1998) J. Cell Biol. , vol.142 , pp. 1053-1062
    • Taya, S.1
  • 33
    • 84861708894 scopus 로고    scopus 로고
    • Exome sequencing identifies compound heterozygous mutations in CYP4V2 in a pedigree with retinitis pigmentosa
    • Wang Y., et al. Exome sequencing identifies compound heterozygous mutations in CYP4V2 in a pedigree with retinitis pigmentosa. PLoS One 2012, 7:e33673.
    • (2012) PLoS One , vol.7
    • Wang, Y.1
  • 34
    • 84855940667 scopus 로고    scopus 로고
    • Genetics and clinical characteristics of hereditary pheochromocytomas and paragangliomas
    • Welander J., Soderkvist P., Gimm O. Genetics and clinical characteristics of hereditary pheochromocytomas and paragangliomas. Endocr. Relat. Cancer 2011, 18:R253-R276.
    • (2011) Endocr. Relat. Cancer , vol.18
    • Welander, J.1    Soderkvist, P.2    Gimm, O.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.