메뉴 건너뛰기




Volumn 58, Issue 8, 2013, Pages 495-500

WFS1 variants in Finnish patients with diabetes mellitus, sensorineural hearing impairment or optic atrophy, and in suicide victims

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; CONTROLLED STUDY; DIABETES INSIPIDUS; DIABETES MELLITUS; FINLAND; GENE; GENE FREQUENCY; GENE MUTATION; GENETIC VARIABILITY; HUMAN; MAJOR CLINICAL STUDY; MENTAL DISEASE; NUCLEOTIDE SEQUENCE; OPTIC NERVE ATROPHY; PERCEPTION DEAFNESS; SUICIDE; URINARY TRACT MALFORMATION; WOLFRAM SYNDROME; WOLFRAMIN GENE 1;

EID: 84883294497     PISSN: 14345161     EISSN: 1435232X     Source Type: Journal    
DOI: 10.1038/jhg.2013.29     Document Type: Article
Times cited : (10)

References (64)
  • 1
    • 0000804149 scopus 로고
    • Diabetes mellitus and simple optic atrophy among siblings: Report of four cases
    • Wolfram, D. J. & Wagener, H. P. Diabetes mellitus and simple optic atrophy among siblings: report of four cases. Mayo Clin. Proc. 13, 715-718 (1938)
    • (1938) Mayo Clin. Proc , vol.13 , pp. 715-718
    • Wolfram, D.J.1    Wagener, H.P.2
  • 2
    • 0020075602 scopus 로고
    • The syndrome of diabetes insipidus, diabetes mellitus, optic atrophy, deafness and other abnormalities (DIDMOAD-syndrome
    • Dreyer, M., Ru? diger, H. W., Bujara, K., Herberhold, C., Ku?hnau, J., Maack, P. et al. The syndrome of diabetes insipidus, diabetes mellitus, optic atrophy, deafness and other abnormalities (DIDMOAD-syndrome). Klin. Wochenschr. 60, 471-475 (1982)
    • (1982) Klin. Wochenschr , vol.60 , pp. 471-475
    • Dreyer, M.1    Rudiger, H.W.2    Bujara, K.3    Herberhold, C.4    Kuhnau, J.5    Maack, P.6
  • 3
    • 0025081836 scopus 로고
    • Psychiatric findings in Wolfram syndrome homozygotes
    • Swift, R. G., Sadler, D. B. & Swift, M. Psychiatric findings in Wolfram syndrome homozygotes. Lancet 336, 667-669 (1990)
    • (1990) Lancet , vol.336 , pp. 667-669
    • Swift, R.G.1    Sadler, D.B.2    Swift, M.3
  • 4
    • 0028808309 scopus 로고
    • Neurodegeneration and diabetes: UK nationwide study of Wolfram (DIDMOAD) syndrome
    • Barrett, T. G., Bundey, S. E. & Macleod, A. F. Neurodegeneration and diabetes: UK nationwide study of Wolfram (DIDMOAD) syndrome. Lancet 346, 1458-1463 (1995)
    • (1995) Lancet , vol.346 , pp. 1458-1463
    • Barrett, T.G.1    Bundey, S.E.2    Macleod, A.F.3
  • 5
    • 0017645098 scopus 로고
    • Diabetes mellitus, diabetes insipidus and optic atrophy. An autosomal recessive syndrome?
    • Fraser, F. C. & Gunn, T. Diabetes mellitus, diabetes insipidus and optic atrophy. An autosomal recessive syndrome? J. Med. Genet. 14, 190-193 (1977)
    • (1977) J. Med. Genet , vol.14 , pp. 190-193
    • Fraser, F.C.1    Gunn, T.2
  • 6
    • 17344362695 scopus 로고    scopus 로고
    • A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram syndrome
    • Inoue, H., Tanizawa, Y., Wasson, J., Behn, P., Kalidas, K., Bernal-Mizrachi, E. et al. A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram syndrome). Nat. Genet. 20, 143-148 (1998)
    • (1998) Nat. Genet , vol.20 , pp. 143-148
    • Inoue, H.1    Tanizawa, Y.2    Wasson, J.3    Behn, P.4    Kalidas, K.5    Bernal-Mizrachi, E.6
  • 7
    • 0031761895 scopus 로고    scopus 로고
    • Diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD) caused by mutations in a novel gene (wolframin) coding for a predicted transmembrane protein
    • Strom, T. M., Ho? rtnagel, K., Hofmann, S., Gekeler, F., Scharfe, C., Rabl, W. et al. Diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD) caused by mutations in a novel gene (wolframin) coding for a predicted transmembrane protein. Hum. Mol. Genet. 7, 2021-2028 (1998)
    • (1998) Hum. Mol. Genet , vol.7 , pp. 2021-2028
    • Strom, T.M.1    Hortnagel, K.2    Hofmann, S.3    Gekeler, F.4    Scharfe, C.5    Rabl, W.6
  • 8
    • 0035283066 scopus 로고    scopus 로고
    • WFS1 (Wolfram syndrome 1) gene product: Predominant subcellular localization to endoplasmic reticulum in cultured cells and neuronal expression in rat brain
    • Takeda, K., Inoue, H., Tanizawa, Y., Matsuzaki, Y., Oba, J., Watanabe, Y. et al. WFS1 (Wolfram syndrome 1) gene product: predominant subcellular localization to endoplasmic reticulum in cultured cells and neuronal expression in rat brain. Hum. Mol. Genet. 10, 477-484 (2001)
    • (2001) Hum. Mol. Genet , vol.10 , pp. 477-484
    • Takeda, K.1    Inoue, H.2    Tanizawa, Y.3    Matsuzaki, Y.4    Oba, J.5    Watanabe, Y.6
  • 9
    • 0041919371 scopus 로고    scopus 로고
    • Wolfram syndrome: Structural and functional analyses of mutant and wild-type wolframin, the WFS1 gene product
    • Hofmann, S., Philbrook, C., Gerbitz, K.-D. & Bauer, M. F. Wolfram syndrome: structural and functional analyses of mutant and wild-type wolframin, the WFS1 gene product. Hum. Mol. Genet. 12, 2003-2012 (2003)
    • (2003) Hum. Mol. Genet , vol.12 , pp. 2003-2012
    • Hofmann, S.1    Philbrook, C.2    Gerbitz, K.-D.3    Bauer, M.F.4
  • 10
    • 33749342602 scopus 로고    scopus 로고
    • WFS1 protein modulates the free Ca2; concentration in the endoplasmic reticulum
    • Takei, D., Ishihara, H., Yamaguchi, S., Yamada, T., Tamura, A., Katagiri, H. et al. WFS1 protein modulates the free Ca2; concentration in the endoplasmic reticulum. FEBS Lett. 580, 5635-5640 (2006)
    • (2006) FEBS Lett , vol.580 , pp. 5635-5640
    • Takei, D.1    Ishihara, H.2    Yamaguchi, S.3    Yamada, T.4    Tamura, A.5    Katagiri, H.6
  • 11
    • 77949751415 scopus 로고    scopus 로고
    • Wolfram syndrome 1 gene negatively regulates ER stress signaling in rodent and human cells
    • Fonseca, S. G., Ishigaki, S., Oslowski, C. M., Lu, S., Lipson, K. L., Ghosh, R. et al. Wolfram syndrome 1 gene negatively regulates ER stress signaling in rodent and human cells. J. Clin. Invest. 120, 744-755 (2010)
    • (2010) J. Clin. Invest , vol.120 , pp. 744-755
    • Fonseca, S.G.1    Ishigaki, S.2    Oslowski, C.M.3    Lu, S.4    Lipson, K.L.5    Ghosh, R.6
  • 12
    • 2942731683 scopus 로고    scopus 로고
    • Disruption of the WFS1 gene in mice causes progressive b-cell loss and impaired stimulus-secretion coupling in insulin secretion
    • Ishihara, H., Takeda, S., Tamura, A., Takahashi, R., Yamaguchi, S., Takei, D. et al. Disruption of the WFS1 gene in mice causes progressive b-cell loss and impaired stimulus - secretion coupling in insulin secretion. Hum. Mol. Genet. 13, 1159-1170 (2004)
    • (2004) Hum. Mol. Genet , vol.13 , pp. 1159-1170
    • Ishihara, H.1    Takeda, S.2    Tamura, A.3    Takahashi, R.4    Yamaguchi, S.5    Takei, D.6
  • 13
    • 0037023257 scopus 로고    scopus 로고
    • Cat odour exposure increases the expression of wolframin gene in the amygdaloid area of rat
    • Ko?ks, S., Planken, A., Luuk, H. & Vasar, E. Cat odour exposure increases the expression of wolframin gene in the amygdaloid area of rat. Neurosci. Lett. 322, 116-120 (2002)
    • (2002) Neurosci. Lett , vol.322 , pp. 116-120
    • Koks, S.1    Planken, A.2    Luuk, H.3    Vasar, E.4
  • 14
    • 58049196878 scopus 로고    scopus 로고
    • WFS1 gene as a putative biomarker for development of post-traumatic syndrome in an animal models
    • Kesner, Y., Zohar, J., Merenlender, A., Gispan, I., Shalit, F. & Yadid, G. WFS1 gene as a putative biomarker for development of post-traumatic syndrome in an animal models. Mol. Psychiatr. 14, 86-94 (2009)
    • (2009) Mol. Psychiatr , vol.14 , pp. 86-94
    • Kesner, Y.1    Zohar, J.2    Merenlender, A.3    Gispan, I.4    Shalit, F.5    Yadid, G.6
  • 15
    • 59649127277 scopus 로고    scopus 로고
    • Wfs1-deficient mice display impaired behavioural adaptation in stressful environment
    • Luuk, H., Plaas, M., Raud, S., Innos, J., Su? tt, S., Lasner, H. et al. Wfs1-deficient mice display impaired behavioural adaptation in stressful environment. Behav. Brain Res. 198, 334-345 (2009)
    • (2009) Behav. Brain Res , vol.198 , pp. 334-345
    • Luuk, H.1    Plaas, M.2    Raud, S.3    Innos, J.4    Sutt, S.5    Lasner, H.6
  • 16
    • 42749091325 scopus 로고    scopus 로고
    • Behavioral and gene expression analyses of WFS1 knockout mice as a possible animal model of mood disorder
    • Kato, T., Ishiwata, M., Yamada, K., Kasahara, T., Kakiuchi, C., Iwamoto, K. et al. Behavioral and gene expression analyses of WFS1 knockout mice as a possible animal model of mood disorder. Neurosci. Res. 61, 143-158 (2008)
    • (2008) Neurosci. Res , vol.61 , pp. 143-158
    • Kato, T.1    Ishiwata, M.2    Yamada, K.3    Kasahara, T.4    Kakiuchi, C.5    Iwamoto, K.6
  • 17
    • 0033361879 scopus 로고    scopus 로고
    • Clinical and molecular analysis of 19 Wolfram syndrome kindreds demonstrating a wide spectrum of mutations in WFS1
    • Hardy, C., Khanim, F., Torres, R., Scott-Brown, M., Seller, A., Poulton, J. et al. Clinical and molecular analysis of 19 Wolfram syndrome kindreds demonstrating a wide spectrum of mutations in WFS1. Am. J. Hum. Genet. 65, 1279-1290 (1999)
    • (1999) Am. J. Hum. Genet , vol.65 , pp. 1279-1290
    • Hardy, C.1    Khanim, F.2    Torres, R.3    Scott-Brown, M.4    Seller, A.5    Poulton, J.6
  • 18
    • 33745366067 scopus 로고    scopus 로고
    • Wolfram syndrome-Associated mutations lead to instability and proteasomal degradation of wolframin
    • Hofmann, S. & Bauer, M. F. Wolfram syndrome-Associated mutations lead to instability and proteasomal degradation of wolframin. FEBS Lett. 580, 4000-4004 (2006)
    • (2006) FEBS Lett , vol.580 , pp. 4000-4004
    • Hofmann, S.1    Bauer, M.F.2
  • 19
    • 0031983913 scopus 로고    scopus 로고
    • Predisposition of Wolfram syndrome heterozygotes to psychiatric illness
    • Swift, R. G., Polymeropoulos, M. H., Torres, R. & Swift, M. Predisposition of Wolfram syndrome heterozygotes to psychiatric illness. Mol. Psychiatr. 3, 86-91 (1998)
    • (1998) Mol. Psychiatr , vol.3 , pp. 86-91
    • Swift, R.G.1    Polymeropoulos, M.H.2    Torres, R.3    Swift, M.4
  • 20
    • 0031753978 scopus 로고    scopus 로고
    • Evidence of an increased risk of hearing loss in heterozygous carriers in a Wolfram syndrome family
    • Ohata, T., Koizumi, A., Kayo, T., Shoji, Y., Watanabe, A., Monoh, K. et al. Evidence of an increased risk of hearing loss in heterozygous carriers in a Wolfram syndrome family. Hum. Genet. 103, 470-474 (1998)
    • (1998) Hum. Genet , vol.103 , pp. 470-474
    • Ohata, T.1    Koizumi, A.2    Kayo, T.3    Shoji, Y.4    Watanabe, A.5    Monoh, K.6
  • 21
    • 0036227462 scopus 로고    scopus 로고
    • Association studies of genetic variation in the WFS1 gene and type 2 diabetes in U.K. populations
    • Minton, J. A., Hattersley, A. T., Owen, K., McCarthy, M. I., Walker, M., Latif, F. et al. Association studies of genetic variation in the WFS1 gene and type 2 diabetes in U.K. populations. Diabetes 51, 1287-1290 (2002)
    • (2002) Diabetes , vol.51 , pp. 1287-1290
    • Minton, J.A.1    Hattersley, A.T.2    Owen, K.3    McCarthy, M.I.4    Walker, M.5    Latif, F.6
  • 22
    • 0036045441 scopus 로고    scopus 로고
    • WFS1 mutations in Spanish patient with diabetes mellitus and deafness
    • Domènech, E., Go'mez-Zaera, M. & Nunes, V. WFS1 mutations in Spanish patient with diabetes mellitus and deafness. Eur. J. Hum. Genet. 10, 421-426 (2002)
    • (2002) Eur. J. Hum. Genet , vol.10 , pp. 421-426
    • Domènech, E.1    Go'Mez-Zaera, M.2    Nunes, V.3
  • 24
    • 39049146958 scopus 로고    scopus 로고
    • Replication of the association between variants in WFS1 and risk of type 2 diabetes in European populations
    • Franks, P. W., Rolandsson, O., Debenham, S. L., Fawcett, K. A., Payne, F., Dina, C. et al. Replication of the association between variants in WFS1 and risk of type 2 diabetes in European populations. Diabetologia 51, 458-463 (2008)
    • (2008) Diabetologia , vol.51 , pp. 458-463
    • Franks, P.W.1    Rolandsson, O.2    Debenham, S.L.3    Fawcett, K.A.4    Payne, F.5    Dina, C.6
  • 25
    • 49249110747 scopus 로고    scopus 로고
    • Impact of polymorphisms in WFS1 on prediabetic phenotypes in a populationbased sample of middle-Aged people with normal and abnormal glucose regulation
    • Sparsø, T., Andersen, G., Albrechtsen, A., Jørgensen, T., Borch-Johnsen, K., Sandbaek, A. et al. Impact of polymorphisms in WFS1 on prediabetic phenotypes in a populationbased sample of middle-Aged people with normal and abnormal glucose regulation. Diabetologia 51, 1646-1652 (2008)
    • (2008) Diabetologia , vol.51 , pp. 1646-1652
    • Sparsø, T.1    Andersen, G.2    Albrechtsen, A.3    Jørgensen, T.4    Borch-Johnsen, K.5    Sandbaek, A.6
  • 26
    • 79953748182 scopus 로고    scopus 로고
    • Decreased insulin secretion and increased risk of type 2 diabetes associated with allelic variations of the WFS1gene: The Data from Epidemiological Study on the Insulin Resistance Syndrome (DESIR) prospective study
    • Cheurfa, N., Brenner, G. M., Reis, A. F., Dubois-Laforgue, D., Roussel, R., Tichet, J. et al. Decreased insulin secretion and increased risk of type 2 diabetes associated with allelic variations of the WFS1gene: the Data from Epidemiological Study on the Insulin Resistance Syndrome (DESIR) prospective study. Diabetologia 54, 554-562 (2011)
    • (2011) Diabetologia , vol.54 , pp. 554-562
    • Cheurfa, N.1    Brenner, G.M.2    Reis, A.F.3    Dubois-Laforgue, D.4    Roussel, R.5    Tichet, J.6
  • 27
    • 0034673246 scopus 로고    scopus 로고
    • Missense variations of the gene responsible for Wolfram syndrome (WFS1/wolframin) in Japanese: Possible contribution of Arg456His mutation to type 1 diabetes as a nonautoimmune genetic basis
    • Awata, T., Inoue, K., Kurihara, S., Ohkubo, T., Inoue, I., Abe, T. et al. Missense variations of the gene responsible for Wolfram syndrome (WFS1/wolframin) in Japanese: Possible contribution of Arg456His mutation to type 1 diabetes as a nonautoimmune genetic basis. Biochem. Biophys. Res. Commun. 268, 612-616 (2000)
    • (2000) Biochem. Biophys. Res. Commun , vol.268 , pp. 612-616
    • Awata, T.1    Inoue, K.2    Kurihara, S.3    Ohkubo, T.4    Inoue, I.5    Abe, T.6
  • 28
    • 0035888617 scopus 로고    scopus 로고
    • Non-syndromic progressive hearing loss DFNA38 is caused by heterozygous missense mutation in the Wolfram syndrome gene WFS1
    • Young, T. L., Ives, E., Lynch, E., Person, R., Snook, S., MacLaren, L. et al. Non-syndromic progressive hearing loss DFNA38 is caused by heterozygous missense mutation in the Wolfram syndrome gene WFS1. Hum. Mol. Genet. 10, 2509-2514 (2001)
    • (2001) Hum. Mol. Genet , vol.10 , pp. 2509-2514
    • Young, T.L.1    Ives, E.2    Lynch, E.3    Person, R.4    Snook, S.5    Maclaren, L.6
  • 29
    • 0035888652 scopus 로고    scopus 로고
    • Mutations in the Wolfram syndrome 1 gene (WFS1) are a common cause of low frequency sensorineural hearing loss
    • Bespalova, I. N., Van Camp, G., Bom, S. J., Brown, D. J., Cryns, K., DeWan, A. T. et al. Mutations in the Wolfram syndrome 1 gene (WFS1) are a common cause of low frequency sensorineural hearing loss. Hum. Mol. Genet. 10, 2501-2508 (2001)
    • (2001) Hum. Mol. Genet , vol.10 , pp. 2501-2508
    • Bespalova, I.N.1    Van Camp, G.2    Bom, S.J.3    Brown, D.J.4    Cryns, K.5    Dewan, A.T.6
  • 30
    • 0036590143 scopus 로고    scopus 로고
    • Mutations in the WFS1 gene that cause low-frequency sensorineural hearing loss are small non-inactivating mutations
    • Cryns, K., Pfister, M., Pennings, R. J., Bom, S. J., Flothmann, K., Caethoven, G. et al. Mutations in the WFS1 gene that cause low-frequency sensorineural hearing loss are small non-inactivating mutations. Hum. Genet. 110, 389-394 (2002)
    • (2002) Hum. Genet , vol.110 , pp. 389-394
    • Cryns, K.1    Pfister, M.2    Pennings, R.J.3    Bom, S.J.4    Flothmann, K.5    Caethoven, G.6
  • 31
    • 34249650293 scopus 로고    scopus 로고
    • Mutations in the WFS1 gene are a frequent cause of autosomal dominant nonsyndromic low-frequency hearing loss in Japanese
    • Fukuoka, H., Kanda, Y., Ohta, S. & Usami, S. Mutations in the WFS1 gene are a frequent cause of autosomal dominant nonsyndromic low-frequency hearing loss in Japanese. J. Hum. Genet. 52, 510-515 (2007)
    • (2007) J. Hum. Genet , vol.52 , pp. 510-515
    • Fukuoka, H.1    Kanda, Y.2    Ohta, S.3    Usami, S.4
  • 32
    • 0032712022 scopus 로고    scopus 로고
    • A rare coding variant within the wolframin gene in bipolar and unipolar affective disorder cases
    • Furlong, R. A., Ho, L. W., Rubinsztein, J. S., Michael, A., Walsh, C., Paykel, E. S. et al. A rare coding variant within the wolframin gene in bipolar and unipolar affective disorder cases. Neurosci. Lett. 277, 123-126 (1999)
    • (1999) Neurosci. Lett , vol.277 , pp. 123-126
    • Furlong, R.A.1    Ho, L.W.2    Rubinsztein, J.S.3    Michael, A.4    Walsh, C.5    Paykel, E.S.6
  • 34
    • 65249116926 scopus 로고    scopus 로고
    • Common variations in 4p locus are related to male completed suicide
    • Must, A., Ko?ks, S., Vasar, E., Tasa, G., Lang, A., Maron, E. et al. Common variations in 4p locus are related to male completed suicide. Neuromol. Med. 11, 13-19 (2009)
    • (2009) Neuromol. Med , vol.11 , pp. 13-19
    • Must, A.1    Koks, S.2    Vasar, E.3    Tasa, G.4    Lang, A.5    Maron, E.6
  • 36
    • 0032231623 scopus 로고    scopus 로고
    • Epidemiology of A3243G, the mutation for mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes: Prevalence of the mutation in an adult population
    • Majamaa, K., Moilanen, J. S., Uimonen, S., Remes, A. M., Salmela, P. I., Ka?rppa?, M. et al. Epidemiology of A3243G, the mutation for mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes: Prevalence of the mutation in an adult population. Am. J. Hum. Genet. 63, 447-454 (1998)
    • (1998) Am. J. Hum. Genet , vol.63 , pp. 447-454
    • Majamaa, K.1    Moilanen, J.S.2    Uimonen, S.3    Remes, A.M.4    Salmela, P.I.5    Karppa, M.6
  • 37
    • 0034116896 scopus 로고    scopus 로고
    • Frequency of mitochondrial DNA point mutations among patients with familial sensorineural hearing impairment
    • Lehtonen, M. S., Uimonen, S., Hassinen, I. E. & Majamaa, K. Frequency of mitochondrial DNA point mutations among patients with familial sensorineural hearing impairment. Eur. J. Hum. Genet. 8, 315-318 (2000)
    • (2000) Eur. J. Hum. Genet , vol.8 , pp. 315-318
    • Lehtonen, M.S.1    Uimonen, S.2    Hassinen, I.E.3    Majamaa, K.4
  • 38
    • 0042204972 scopus 로고    scopus 로고
    • Epidemiology of the mitochondrial DNA 8344A4G mutation for the myoclonus epilepsy and ragged red fibres (MERRF) syndrome
    • Remes, A. M., Ka?rppa?, M., Moilanen, J. S., Rusanen, H., Hassinen, I. E., Majamaa, K. et al. Epidemiology of the mitochondrial DNA 8344A4G mutation for the myoclonus epilepsy and ragged red fibres (MERRF) syndrome. J. Neurol. Neurosurg. Psychiatr. 74, 1157-1159 (2003)
    • (2003) J. Neurol. Neurosurg. Psychiatr , vol.74 , pp. 1157-1159
    • Remes, A.M.1    Karppa, M.2    Moilanen, J.S.3    Rusanen, H.4    Hassinen, I.E.5    Majamaa, K.6
  • 39
    • 84885418736 scopus 로고    scopus 로고
    • Prevalence of mitochondrial diabetes in southwestern Finland: A molecular epidemiological study
    • doi:10.1007/s00592-012-0393-2
    • Martikainen, M. H., Ro?nnemaa, T. & Majamaa, K. Prevalence of mitochondrial diabetes in southwestern Finland: a molecular epidemiological study. Acta Diabetol. doi:10.1007/s00592-012-0393-2 (2012)
    • (2012) Acta Diabetol
    • Martikainen, M.H.1    Ronnemaa, T.2    Majamaa, K.3
  • 40
    • 0032539612 scopus 로고    scopus 로고
    • Conformation sensitive gel electrophoresis for simple and accurate detection of mutations: Comparison with denaturing gradient gel electrophoresis and nucleotide sequencing
    • Ko?rkko?, J., Annunen, S., Pihlajamaa, T., Prockop, D. & Ala-Kokko, L. Conformation sensitive gel electrophoresis for simple and accurate detection of mutations: Comparison with denaturing gradient gel electrophoresis and nucleotide sequencing. Proc. Natl Acad. Sci. USA 95, 1681-1685 (1998)
    • (1998) Proc. Natl Acad. Sci. USA , vol.95 , pp. 1681-1685
    • Korkko, J.1    Annunen, S.2    Pihlajamaa, T.3    Prockop, D.4    Ala-Kokko, L.5
  • 41
    • 0026689178 scopus 로고
    • Performing the exact test of Hardy-Weinberg proportion for multiple alleles
    • Guo, S. W. & Thompson, E. A. Performing the exact test of Hardy-Weinberg proportion for multiple alleles. Biometrics 48, 361-372 (1992)
    • (1992) Biometrics , vol.48 , pp. 361-372
    • Guo, S.W.1    Thompson, E.A.2
  • 42
    • 0029178096 scopus 로고
    • An exact test for population differentiation
    • Raymond, M. & Rousset, F. An exact test for population differentiation. Evolution 49, 1280-1283 (1995)
    • (1995) Evolution , vol.49 , pp. 1280-1283
    • Raymond, M.1    Rousset, F.2
  • 43
    • 77953032930 scopus 로고    scopus 로고
    • Arlequin suite ver 3.5: A new series of programs to perform population genetics analyses under Linux and Windows
    • Excoffier, L. & Lischer, H. Arlequin suite ver 3.5: a new series of programs to perform population genetics analyses under Linux and Windows. Mol. Ecol. Resour. 10, 564-567 (2010)
    • (2010) Mol. Ecol. Resour , vol.10 , pp. 564-567
    • Excoffier, L.1    Lischer, H.2
  • 44
    • 0001677717 scopus 로고
    • Controlling the false discovery rate: A practical and powerful approach to multiple testing
    • Benjamini, Y. & Hochberg, Y. Controlling the false discovery rate: A practical and powerful approach to multiple testing. J. R. Stat. Soc. Series. B Stat. Methodol. 57, 289-300 (1995)
    • (1995) J. R. Stat. Soc. Series. B Stat. Methodol , vol.57 , pp. 289-300
    • Benjamini, Y.1    Hochberg, Y.2
  • 47
    • 0035026704 scopus 로고    scopus 로고
    • Predicting deleterious amino acid substitutions
    • Ng, P. C. & Henikoff, S. Predicting deleterious amino acid substitutions. Genome Res. 11, 863-874 (2001)
    • (2001) Genome Res , vol.11 , pp. 863-874
    • Ng, P.C.1    Henikoff, S.2
  • 48
    • 34547100092 scopus 로고    scopus 로고
    • SNAP: Predict effect of non-synonymous polymorphisms on function
    • Bromberg, Y. & Rost, B. SNAP: predict effect of non-synonymous polymorphisms on function. Nucleic Acids Res. 35, 3823-3835 (2007)
    • (2007) Nucleic Acids Res , vol.35 , pp. 3823-3835
    • Bromberg, Y.1    Rost, B.2
  • 49
    • 77955151784 scopus 로고    scopus 로고
    • MutationTaster evaluates disease-causing potential of sequence alterations
    • Schwarz, J. M., Ro?delsperger, C., Schuelke, M. & Seelow, D. MutationTaster evaluates disease-causing potential of sequence alterations. Nat. Methods 7, 575-576 (2010)
    • (2010) Nat. Methods , vol.7 , pp. 575-576
    • Schwarz, J.M.1    Rodelsperger, C.2    Schuelke, M.3    Seelow, D.4
  • 50
    • 80054078476 scopus 로고    scopus 로고
    • Fast, scalable generation of high-quality protein multiple sequence alignments using Clustal Omega
    • Sievers, F., Wilm, A., Dineen, D., Gibson, T. J., Karplus, K., Li, W. et al. Fast, scalable generation of high-quality protein multiple sequence alignments using Clustal Omega. Mol. Syst. Biol. 7, 539 (2011)
    • (2011) Mol. Syst. Biol , vol.7 , pp. 539
    • Sievers, F.1    Wilm, A.2    Dineen, D.3    Gibson, T.J.4    Karplus, K.5    Li, W.6
  • 51
    • 77954296666 scopus 로고    scopus 로고
    • A new bioinformatics analysis tools framework at EMBL-EBI (2010
    • (Web Server issue
    • Goujon, M., McWilliam, H., Li, W., Valentin, F., Squizzato, S., Paern, J. et al. A new bioinformatics analysis tools framework at EMBL-EBI (2010). Nucleic Acids Res. 38 (Web Server issue), W695-W699 (2010)
    • (2010) Nucleic Acids Res , vol.38
    • Goujon, M.1    McWilliam, H.2    Li, W.3    Valentin, F.4    Squizzato, S.5    Paern, J.6
  • 52
    • 0035910270 scopus 로고    scopus 로고
    • Predicting transmembrane protein topology with a hidden markov model: Application to complete genomes
    • Krogh, A., Larsson, B., von Heijne, G. & Sonnhammer, E. L. Predicting transmembrane protein topology with a hidden markov model: application to complete genomes. J. Mol. Biol. 305, 567-580 (2001)
    • (2001) J. Mol. Biol , vol.305 , pp. 567-580
    • Krogh, A.1    Larsson, B.2    Von Heijne, G.3    Sonnhammer, E.L.4
  • 53
    • 84862785585 scopus 로고    scopus 로고
    • Large-scale gene-centric meta-Analysis across 39 studies identifies type 2 diabetes loci
    • Saxena, R., Elbers, C. C., Guo, Y., Peter, I., Gaunt, T. R., Mega, J. L. et al. Large-scale gene-centric meta-Analysis across 39 studies identifies type 2 diabetes loci. Am. J. Hum. Genet. 90, 410-425 (2012)
    • (2012) Am. J. Hum. Genet , vol.90 , pp. 410-425
    • Saxena, R.1    Elbers, C.C.2    Guo, Y.3    Peter, I.4    Gaunt, T.R.5    Mega, J.L.6
  • 54
    • 67349190497 scopus 로고    scopus 로고
    • A common genetic variant in WFS1 determines impaired glucagon-like peptide-1- induced insulin secretion
    • Scha? fer, S. A., Mu? ssig, K., Staiger, H., Machicao, F., Stefan, N., Gallwitz, B. et al. A common genetic variant in WFS1 determines impaired glucagon-like peptide-1- induced insulin secretion. Diabetologia 52, 1075-1082 (2009)
    • (2009) Diabetologia , vol.52 , pp. 1075-1082
    • Schafer, S.A.1    Mussig, K.2    Staiger, H.3    Machicao, F.4    Stefan, N.5    Gallwitz, B.6
  • 55
    • 77950358970 scopus 로고    scopus 로고
    • Detailed investigation of the role of common and low-frequency WFS1 variants in type 2 diabetes risk
    • Fawcett, K. A., Wheeler, E., Morris, A. P., Ricketts, S. L., Hallmans, G., Rolandsson, O. et al. Detailed investigation of the role of common and low-frequency WFS1 variants in type 2 diabetes risk. Diabetes 59, 741-746 (2010)
    • (2010) Diabetes , vol.59 , pp. 741-746
    • Fawcett, K.A.1    Wheeler, E.2    Morris, A.P.3    Ricketts, S.L.4    Hallmans, G.5    Rolandsson, O.6
  • 56
    • 55849116691 scopus 로고    scopus 로고
    • Genome-wide analysis of single nucleotide polymorphisms uncovers population structure in Northern Europe
    • Salmela, E., Lappalainen, T., Fransson, I., Andersen, P. M., Dahlman-Wright, K., Fiebig, A. et al. Genome-wide analysis of single nucleotide polymorphisms uncovers population structure in Northern Europe. PLoS ONE 3, e3519 (2008)
    • (2008) PLoS ONE , vol.3
    • Salmela, E.1    Lappalainen, T.2    Fransson, I.3    Andersen, P.M.4    Dahlman-Wright, K.5    Fiebig, A.6
  • 57
    • 2442585696 scopus 로고    scopus 로고
    • The effects of human population structure on large genetic association studies
    • Marchini, J., Cardon, L. R., Phillips, M. S. & Donnelly, P. The effects of human population structure on large genetic association studies. Nat. Genet. 36, 512-517 (2004)
    • (2004) Nat. Genet , vol.36 , pp. 512-517
    • Marchini, J.1    Cardon, L.R.2    Phillips, M.S.3    Donnelly, P.4
  • 58
    • 10744222064 scopus 로고    scopus 로고
    • Mutational spectrum of the WFS1 gene in Wolfram syndrome, nonsyndromic hearing impairment, diabetes mellitus, and psychiatric disease
    • Cryns, K., Sivakumaran, T. A., Van den Ouweland, J. M., Pennings, R. J., Cremers, C. W., Flothmann, K. et al. Mutational spectrum of the WFS1 gene in Wolfram syndrome, nonsyndromic hearing impairment, diabetes mellitus, and psychiatric disease. Hum. Mutat. 22, 275-287 (2003)
    • (2003) Hum. Mutat , vol.22 , pp. 275-287
    • Cryns, K.1    Sivakumaran, T.A.2    Van Den Ouweland, J.M.3    Pennings, R.J.4    Cremers, C.W.5    Flothmann, K.6
  • 61
    • 1542314769 scopus 로고    scopus 로고
    • Danish iddm epidemiology and genetics group evidence for linkage on chromosome 4p16.1 in type 1 diabetes danish families and complete mutation scanning of the wfs1 (wolframin) gene
    • Larsen, Z. M., Johannesen, J., Kristiansen, O. P., Nerup, J., Pociot, F. et al. Danish IDDM Epidemiology and Genetics Group. Evidence for linkage on chromosome 4p16.1 in type 1 diabetes Danish families and complete mutation scanning of the WFS1 (Wolframin) gene. Diabet. Med. 21, 218-222 (2004)
    • (2004) Diabet. Med , vol.21 , pp. 218-222
    • Larsen, Z.M.1    Johannesen, J.2    Kristiansen, O.P.3    Nerup, J.4    Pociot, F.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.