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Volumn , Issue , 2014, Pages 23-32

Genetic obesity syndromes

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EID: 84930246785     PISSN: None     EISSN: None     Source Type: Book    
DOI: 10.1007/978-1-4614-8642-8_2     Document Type: Chapter
Times cited : (8)

References (34)
  • 1
    • 1042267409 scopus 로고    scopus 로고
    • Prader-Willi syndrome: Advances in genetics, pathophysiology and treatment
    • Goldstone AP (2004) Prader-Willi syndrome: advances in genetics, pathophysiology and treatment. Trends Endocrinol Metab 15:12-20.
    • (2004) Trends Endocrinol Metab , vol.15 , pp. 12-20
    • Goldstone, A.P.1
  • 2
    • 0035564989 scopus 로고    scopus 로고
    • Prader-Willi syndrome how does growth hormone affect body composition and physical function?
    • Carrel AL, Allen DB (2001) Prader-Willi syndrome: how does growth hormone affect body composition and physical function? J Pediatr Endocrinol Metab 14(Suppl 6):1445-1451.
    • (2001) J Pediatr Endocrinol Metab , vol.14 , Issue.SUPPL. 6 , pp. 1445-1451
    • Carrel, A.L.1    Allen, D.B.2
  • 3
    • 0037240916 scopus 로고    scopus 로고
    • Serum ghrelin levels are inversely correlated with body mass index, age, and insulin concentrations in normal children and are markedly increased in Prader-Willi syndrome
    • Haqq AM, Farooqi IS, ORahilly S et al (2003) Serum ghrelin levels are inversely correlated with body mass index, age, and insulin concentrations in normal children and are markedly increased in Prader-Willi syndrome. J Clin Endocrinol Metab 88:174-178.
    • (2003) J Clin Endocrinol Metab , vol.88 , pp. 174-178
    • Haqq, A.M.1    Farooqi, I.S.2    Orahilly, S.3
  • 4
    • 68749097161 scopus 로고    scopus 로고
    • A deletion of the HBII-85 class of small nucleolar RNAs (snoRNAs) is associated with hyperphagia, obesity and hypogonadism
    • de Smith AJ, Purmann C, Walters RG et al (2009) A deletion of the HBII-85 class of small nucleolar RNAs (snoRNAs) is associated with hyperphagia, obesity and hypogonadism. Hum Mol Genet 18:3257-3265.
    • (2009) Hum Mol Genet , vol.18 , pp. 3257-3265
    • De Smith, A.J.1    Purmann, C.2    Walters, R.G.3
  • 5
    • 44349191455 scopus 로고    scopus 로고
    • Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster
    • Sahoo T, del Gaudio D, German JR et al (2008) Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster. Nat Genet 40:719-721.
    • (2008) Nat Genet , vol.40 , pp. 719-721
    • Sahoo, T.1    Del Gaudio, D.2    German, J.R.3
  • 6
    • 0036291368 scopus 로고    scopus 로고
    • Gs(alpha) mutations and imprinting defects in human disease
    • Weinstein LS, Chen M, Liu J (2002) Gs(alpha) mutations and imprinting defects in human disease. Ann N Y Acad Sci 968:173-197.
    • (2002) Ann N y Acad Sci , vol.968 , pp. 173-197
    • Weinstein, L.S.1    Chen, M.2    Liu, J.3
  • 7
    • 0142104970 scopus 로고    scopus 로고
    • Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome
    • Ansley SJ, Badano JL, Blacque OE et al (2003) Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome. Nature 425:628-633.
    • (2003) Nature , vol.425 , pp. 628-633
    • Ansley, S.J.1    Badano, J.L.2    Blacque, O.E.3
  • 9
    • 7044262828 scopus 로고    scopus 로고
    • A de novo mutation affecting human TrkB associated with severe obesity and developmental delay
    • Yeo GS, Connie Hung CC, Rochford J et al (2004) A de novo mutation affecting human TrkB associated with severe obesity and developmental delay. Nat Neurosci 7:1187-1189.
    • (2004) Nat Neurosci , vol.7 , pp. 1187-1189
    • Yeo, G.S.1    Connie Hung, C.C.2    Rochford, J.3
  • 10
    • 33845530762 scopus 로고    scopus 로고
    • Hyperphagia, severe obesity, impaired cognitive function, and hyperactivity associated with functional loss of one copy of the brain-derived neurotrophic factor (BDNF) gene
    • Gray J, Yeo GS, Cox JJ et al (2006) Hyperphagia, severe obesity, impaired cognitive function, and hyperactivity associated with functional loss of one copy of the brain-derived neurotrophic factor (BDNF) gene. Diabetes 55:3366-3371.
    • (2006) Diabetes , vol.55 , pp. 3366-3371
    • Gray, J.1    Yeo, G.S.2    Cox, J.J.3
  • 11
    • 50449091665 scopus 로고    scopus 로고
    • Brain-derived neurotrophic factor and obesity in the WAGR syndrome
    • Han JC, Liu QR, Jones M et al (2008) Brain-derived neurotrophic factor and obesity in the WAGR syndrome. N Engl J Med 359:918-927.
    • (2008) N Engl J Med , vol.359 , pp. 918-927
    • Han, J.C.1    Liu, Q.R.2    Jones, M.3
  • 12
    • 0034016043 scopus 로고    scopus 로고
    • Profound obesity associated with a balanced translocation that disrupts the SIM1 gene
    • Holder JL Jr, Butte NF, Zinn AR (2000) Profound obesity associated with a balanced translocation that disrupts the SIM1 gene. Hum Mol Genet 9:101-108.
    • (2000) Hum Mol Genet , vol.9 , pp. 101-108
    • Holder, J.L.1    Butte, N.F.2    Zinn, A.R.3
  • 13
    • 46349095132 scopus 로고    scopus 로고
    • Oxytocin deficiency mediates hyperphagic obesity of Sim1 haploinsufficient mice
    • Kublaoui BM, Gemelli T, Tolson KP, Wang Y, Zinn AR (2008) Oxytocin deficiency mediates hyperphagic obesity of Sim1 haploinsufficient mice. Mol Endocrinol 22:1723-1734.
    • (2008) Mol Endocrinol , vol.22 , pp. 1723-1734
    • Kublaoui, B.M.1    Gemelli, T.2    Tolson, K.P.3    Wang, Y.4    Zinn, A.R.5
  • 14
    • 0030889192 scopus 로고    scopus 로고
    • Targeted disruption of the melanocortin- 4. receptor results in obesity in mice
    • Huszar D, Lynch CA, Fairchild-Huntress V et al (1997) Targeted disruption of the melanocortin- 4. receptor results in obesity in mice. Cell 88:131-141.
    • (1997) Cell , vol.88 , pp. 131-141
    • Huszar, D.1    Lynch, C.A.2    Fairchild-Huntress, V.3
  • 15
    • 33846409122 scopus 로고    scopus 로고
    • Clinical and molecular genetic spectrum of congenital deficiency of the leptin receptor
    • Farooqi IS, Wangensteen T, Collins S et al (2007) Clinical and molecular genetic spectrum of congenital deficiency of the leptin receptor. N Engl J Med 356:237-247.
    • (2007) N Engl J Med , vol.356 , pp. 237-247
    • Farooqi, I.S.1    Wangensteen, T.2    Collins, S.3
  • 16
    • 0036800760 scopus 로고    scopus 로고
    • Beneficial effects of leptin on obesity, T cell hyporesponsiveness, and neuroendocrine/metabolic dysfunction of human congenital leptin deficiency
    • Farooqi IS, Matarese G, Lord GM et al (2002) Beneficial effects of leptin on obesity, T cell hyporesponsiveness, and neuroendocrine/metabolic dysfunction of human congenital leptin deficiency. J Clin Invest 110:1093-1103.
    • (2002) J Clin Invest , vol.110 , pp. 1093-1103
    • Farooqi, I.S.1    Matarese, G.2    Lord, G.M.3
  • 17
    • 0033575993 scopus 로고    scopus 로고
    • Effects of recombinant leptin therapy in a child with congenital leptin deficiency
    • Farooqi IS, Jebb SA, Langmack G et al (1999) Effects of recombinant leptin therapy in a child with congenital leptin deficiency. N Engl J Med 341:879-884.
    • (1999) N Engl J Med , vol.341 , pp. 879-884
    • Farooqi, I.S.1    Jebb, S.A.2    Langmack, G.3
  • 19
    • 46749099010 scopus 로고    scopus 로고
    • Leptin reverses weight lossinduced changes in regional neural activity responses to visual food stimuli
    • Rosenbaum M, Sy M, Pavlovich K, Leibel RL, Hirsch J (2008) Leptin reverses weight lossinduced changes in regional neural activity responses to visual food stimuli. J Clin Invest 118:2583-2591.
    • (2008) J Clin Invest , vol.118 , pp. 2583-2591
    • Rosenbaum, M.1    Sy, M.2    Pavlovich, K.3    Leibel, R.L.4    Hirsch, J.5
  • 20
    • 0242320429 scopus 로고    scopus 로고
    • Obesity due to proopiomelanocortin deficiency: Three new cases and treatment trials with thyroid hormone and ACTH4-10
    • Krude H, Biebermann H, Schnabel D et al (2003) Obesity due to proopiomelanocortin deficiency: three new cases and treatment trials with thyroid hormone and ACTH4-10. J Clin Endocrinol Metab 88:4633-4640.
    • (2003) J Clin Endocrinol Metab , vol.88 , pp. 4633-4640
    • Krude, H.1    Biebermann, H.2    Schnabel, D.3
  • 21
    • 0037101841 scopus 로고    scopus 로고
    • A missense mutation disrupting a dibasic prohormone processing site in pro-opiomelanocortin (POMC) increases susceptibility to early-onset obesity through a novel molecular mechanism
    • Challis BG, Pritchard LE, Creemers JW et al (2002) A missense mutation disrupting a dibasic prohormone processing site in pro-opiomelanocortin (POMC) increases susceptibility to early-onset obesity through a novel molecular mechanism. Hum Mol Genet 11:1997-2004.
    • (2002) Hum Mol Genet , vol.11 , pp. 1997-2004
    • Challis, B.G.1    Pritchard, L.E.2    Creemers, J.W.3
  • 22
    • 33645048441 scopus 로고    scopus 로고
    • A POMC variant implicates beta-melanocytestimulating hormone in the control of human energy balance
    • Lee YS, Challis BG, Thompson DA et al (2006) A POMC variant implicates beta-melanocytestimulating hormone in the control of human energy balance. Cell Metab 3:135-140.
    • (2006) Cell Metab , vol.3 , pp. 135-140
    • Lee, Y.S.1    Challis, B.G.2    Thompson, D.A.3
  • 23
    • 80054752024 scopus 로고    scopus 로고
    • The proprotein convertases, 20 years later
    • Seidah NG (2011) The proprotein convertases, 20 years later. Methods Mol Biol 768:23-57.
    • (2011) Methods Mol Biol , vol.768 , pp. 23-57
    • Seidah, N.G.1
  • 24
    • 0030949271 scopus 로고    scopus 로고
    • Obesity and impaired prohormone processing associated with mutations in the human prohormone convertase 1 gene [see comments]
    • Jackson RS, Creemers JW, Ohagi S et al (1997) Obesity and impaired prohormone processing associated with mutations in the human prohormone convertase 1 gene [see comments]. Nat Genet 16:303-306.
    • (1997) Nat Genet , vol.16 , pp. 303-306
    • Jackson, R.S.1    Creemers, J.W.2    Ohagi, S.3
  • 25
    • 0346096721 scopus 로고    scopus 로고
    • Small-intestinal dysfunction accompanies the complex endocrinopathy of human proprotein convertase 1 deficiency
    • Jackson RS, Creemers JW, Farooqi IS et al (2003) Small-intestinal dysfunction accompanies the complex endocrinopathy of human proprotein convertase 1 deficiency. J Clin Invest 112:1550-1560.
    • (2003) J Clin Invest , vol.112 , pp. 1550-1560
    • Jackson, R.S.1    Creemers, J.W.2    Farooqi, I.S.3
  • 26
    • 52749092130 scopus 로고    scopus 로고
    • Prevalence of melanocortin-4 receptor deficiency in Europeans and their age-dependent penetrance in multigenerational pedigrees
    • Stutzmann F, Tan K, Vatin V et al (2008) Prevalence of melanocortin-4 receptor deficiency in Europeans and their age-dependent penetrance in multigenerational pedigrees. Diabetes 57:2511-2518.
    • (2008) Diabetes , vol.57 , pp. 2511-2518
    • Stutzmann, F.1    Tan, K.2    Vatin, V.3
  • 28
    • 78650912045 scopus 로고    scopus 로고
    • Obesity due to melanocortin 4 receptor (MC4R) deficiency is associated with increased linear growth and final height, fasting hyperinsulinemia, and incompletely suppressed growth hormone secretion
    • Martinelli CE, Keogh JM, Greenfield JR et al (2011) Obesity due to melanocortin 4 receptor (MC4R) deficiency is associated with increased linear growth and final height, fasting hyperinsulinemia, and incompletely suppressed growth hormone secretion. J Clin Endocrinol Metab 96:E181-E188.
    • (2011) J Clin Endocrinol Metab , vol.96 , pp. E181-E188
    • Martinelli, C.E.1    Keogh, J.M.2    Greenfield, J.R.3
  • 29
    • 58249087146 scopus 로고    scopus 로고
    • Modulation of blood pressure by central melanocortinergic pathways
    • Greenfield JR, Miller JW, Keogh JM et al (2009) Modulation of blood pressure by central melanocortinergic pathways. N Engl J Med 360:44-52.
    • (2009) N Engl J Med , vol.360 , pp. 44-52
    • Greenfield, J.R.1    Miller, J.W.2    Keogh, J.M.3
  • 30
    • 84861982757 scopus 로고    scopus 로고
    • Melanocortin-4 receptor signaling is required for weight loss after gastric bypass surgery
    • Hatoum IJ, Stylopoulos N, Vanhoose AM et al (2012) Melanocortin-4 receptor signaling is required for weight loss after gastric bypass surgery. J Clin Endocrinol Metab 97:E1023-E1031.
    • (2012) J Clin Endocrinol Metab , vol.97 , pp. E1023-E1031
    • Hatoum, I.J.1    Stylopoulos, N.2    Vanhoose, A.M.3
  • 31
    • 84878569025 scopus 로고    scopus 로고
    • Genome-wide SNP and CNV analysis identifi es common and low-frequency variants associated with severe early-onset obesity
    • Wheeler E, Huang N, Bochukova EG et al (2013) Genome-wide SNP and CNV analysis identifi es common and low-frequency variants associated with severe early-onset obesity. Nat Genet 45:513-517.
    • (2013) Nat Genet , vol.45 , pp. 513-517
    • Wheeler, E.1    Huang, N.2    Bochukova, E.G.3
  • 32
    • 76349083132 scopus 로고    scopus 로고
    • Large, rare chromosomal deletions associated with severe early-onset obesity
    • Bochukova EG, Huang N, Keogh J et al (2010) Large, rare chromosomal deletions associated with severe early-onset obesity. Nature 463:666-670.
    • (2010) Nature , vol.463 , pp. 666-670
    • Bochukova, E.G.1    Huang, N.2    Keogh, J.3
  • 33
    • 84870541022 scopus 로고    scopus 로고
    • Human SH2B1 mutations are associated with maladaptive behaviors and obesity
    • Doche ME, Bochukova EG, Su HW et al (2012) Human SH2B1 mutations are associated with maladaptive behaviors and obesity. J Clin Invest 122:4732-4736.
    • (2012) J Clin Invest , vol.122 , pp. 4732-4736
    • Doche, M.E.1    Bochukova, E.G.2    Su, H.W.3
  • 34
    • 18744380999 scopus 로고    scopus 로고
    • Clinical practice. Overweight children and adolescents
    • Dietz WH, Robinson TN (2005) Clinical practice. Overweight children and adolescents. N Engl J Med 352:2100-2109.
    • (2005) N Engl J Med , vol.352 , pp. 2100-2109
    • Dietz, W.H.1    Robinson, T.N.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.