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Volumn 356, Issue 3, 2007, Pages 237-247

Clinical and molecular genetic spectrum of congenital deficiency of the leptin receptor

(25)  Farooqi, I Sadaf a   Wangensteen, Teresia g   Collins, Stephan b   Kimber, Wendy a   Matarese, Giuseppe i,j   Keogh, Julia M a   Lank, Emma a   Bottomley, Bill b   Lopez Fernandez, Judith k   Ferraz Amaro, Ivan k   Dattani, Mehul T c   Ercan, Oya l   Myhre, Anne Grethe h   Retterstol, Lars g   Stanhope, Richard d   Edge, Julie A e   McKenzie, Sheila f   Lessan, Nader m   Ghodsi, Maryam m   De Rosa, Veronica i,j   more..


Author keywords

[No Author keywords available]

Indexed keywords

LEPTIN; LEPTIN RECEPTOR;

EID: 33846409122     PISSN: 00284793     EISSN: 15334406     Source Type: Journal    
DOI: 10.1056/NEJMoa063988     Document Type: Article
Times cited : (560)

References (31)
  • 1
    • 0035248117 scopus 로고    scopus 로고
    • Clinical aspects of obesity in childhood and adolescence
    • Kiess W, Galler A, Reich A, et al. Clinical aspects of obesity in childhood and adolescence. Obes Rev 2001;2:29-36.
    • (2001) Obes Rev , vol.2 , pp. 29-36
    • Kiess, W.1    Galler, A.2    Reich, A.3
  • 2
  • 3
    • 0030878110 scopus 로고    scopus 로고
    • Congenital leptin deficiency is associated with severe early-onset obesity in humans
    • Montague CT, Farooqi IS, Whitehead JP, et al. Congenital leptin deficiency is associated with severe early-onset obesity in humans. Nature 1997;387:903-8.
    • (1997) Nature , vol.387 , pp. 903-908
    • Montague, C.T.1    Farooqi, I.S.2    Whitehead, J.P.3
  • 4
    • 0032014836 scopus 로고    scopus 로고
    • A leptin missense mutation associated with hypogonadism and morbid obesity
    • Strobel A, Issad T, Camoin L, Ozata M, Strosberg AD. A leptin missense mutation associated with hypogonadism and morbid obesity. Nat Genet 1998;18:213-5.
    • (1998) Nat Genet , vol.18 , pp. 213-215
    • Strobel, A.1    Issad, T.2    Camoin, L.3    Ozata, M.4    Strosberg, A.D.5
  • 5
    • 0344450708 scopus 로고    scopus 로고
    • A mutation in the human leptin receptor gene causes obesity and pituitary dysfunction
    • Clement K, Vaisse C, Lahlou N, et al. A mutation in the human leptin receptor gene causes obesity and pituitary dysfunction. Nature 1998;392:398-401.
    • (1998) Nature , vol.392 , pp. 398-401
    • Clement, K.1    Vaisse, C.2    Lahlou, N.3
  • 6
    • 0031838353 scopus 로고    scopus 로고
    • Severe early-onset obesity, adrenal insufficiency and red hair pigmentation caused by POMC mutations in humans
    • Krude H, Biebermann H, Luck W, Horn R, Brabant G, Gruters A. Severe early-onset obesity, adrenal insufficiency and red hair pigmentation caused by POMC mutations in humans. Nat Genet 1998;19:155-7.
    • (1998) Nat Genet , vol.19 , pp. 155-157
    • Krude, H.1    Biebermann, H.2    Luck, W.3    Horn, R.4    Brabant, G.5    Gruters, A.6
  • 7
    • 0030949271 scopus 로고    scopus 로고
    • Obesity and impaired prohormone processing associated with mutations in the human prohormone convertase 1 gene
    • Jackson RS, Creemers JW, Ohagi S, et al. Obesity and impaired prohormone processing associated with mutations in the human prohormone convertase 1 gene. Nat Genet 1997;16:303-6.
    • (1997) Nat Genet , vol.16 , pp. 303-306
    • Jackson, R.S.1    Creemers, J.W.2    Ohagi, S.3
  • 9
    • 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. Beneficial effects of leptin on obesity, T cell hyporesponsiveness, and neuroendocrine/metabolic dysfunction of human congenital leptin deficiency. J Clin Invest 2002;110:1093-103.
    • (2002) J Clin Invest , vol.110 , pp. 1093-1103
    • Farooqi, I.S.1    Matarese, G.2    Lord, G.M.3
  • 10
    • 6344221594 scopus 로고    scopus 로고
    • Congenital leptin deficiency due to homozygosity for the Delta133G mutation: Report of another case and evaluation of response to four years of leptin therapy
    • Gibson WT, Farooqi IS, Moreau M, et al. Congenital leptin deficiency due to homozygosity for the Delta133G mutation: report of another case and evaluation of response to four years of leptin therapy. J Clin Endocrinol Metab 2004;89:4821-6.
    • (2004) J Clin Endocrinol Metab , vol.89 , pp. 4821-4826
    • Gibson, W.T.1    Farooqi, I.S.2    Moreau, M.3
  • 11
    • 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. Effects of recombinant leptin therapy in a child with congenital leptin deficiency. N Engl J Med 1999;341:879-84.
    • (1999) N Engl J Med , vol.341 , pp. 879-884
    • Farooqi, I.S.1    Jebb, S.A.2    Langmack, G.3
  • 12
    • 12144289998 scopus 로고    scopus 로고
    • Phenotypic effects of leptin replacement on morbid obesity, diabetes mellitus, hypogonadism, and behavior in leptin-deficient adults
    • Licinio J, Caglayan S, Ozata M, et al. Phenotypic effects of leptin replacement on morbid obesity, diabetes mellitus, hypogonadism, and behavior in leptin-deficient adults. Proc Natl Acad Sci U S A 2004;101:4531-6.
    • (2004) Proc Natl Acad Sci U S A , vol.101 , pp. 4531-4536
    • Licinio, J.1    Caglayan, S.2    Ozata, M.3
  • 13
    • 0033861080 scopus 로고    scopus 로고
    • Soluble leptin receptor in serum of subjects with complete resistance to leptin: Relation to fat mass
    • Lahlou N, Clement K, Carel JC, et al. Soluble leptin receptor in serum of subjects with complete resistance to leptin: relation to fat mass. Diabetes 2000;49:1347-52.
    • (2000) Diabetes , vol.49 , pp. 1347-1352
    • Lahlou, N.1    Clement, K.2    Carel, J.C.3
  • 14
    • 0029033734 scopus 로고
    • Body mass index reference curves for the UK, 1990
    • Cole TJ, Freeman JV, Preece MA. Body mass index reference curves for the UK, 1990. Arch Dis Child 1995;73:25-9.
    • (1995) Arch Dis Child , vol.73 , pp. 25-29
    • Cole, T.J.1    Freeman, J.V.2    Preece, M.A.3
  • 16
    • 0028833867 scopus 로고
    • Undiagnosed glucose intolerance in the community: The Isle of Ely Diabetes Project
    • Williams DR, Wareham NJ, Brown DC, et al. Undiagnosed glucose intolerance in the community: the Isle of Ely Diabetes Project. Diabet Med 1995;12:30-5.
    • (1995) Diabet Med , vol.12 , pp. 30-35
    • Williams, D.R.1    Wareham, N.J.2    Brown, D.C.3
  • 17
    • 0035514934 scopus 로고    scopus 로고
    • Partial leptin deficiency and human adiposity
    • Farooqi IS, Keogh JM, Kamath S, et al. Partial leptin deficiency and human adiposity. Nature 2001;414:34-5.
    • (2001) Nature , vol.414 , pp. 34-35
    • Farooqi, I.S.1    Keogh, J.M.2    Kamath, S.3
  • 18
    • 15944368215 scopus 로고    scopus 로고
    • Two novel missense mutations in G protein-coupled receptor 54 in a patient with hypogonadotropic hypogonadism
    • Semple RK, Achermann JC, Ellery J, et al. Two novel missense mutations in G protein-coupled receptor 54 in a patient with hypogonadotropic hypogonadism. J Clin Endocrinol Metab 2005;90:1849-55.
    • (2005) J Clin Endocrinol Metab , vol.90 , pp. 1849-1855
    • Semple, R.K.1    Achermann, J.C.2    Ellery, J.3
  • 19
    • 0027454165 scopus 로고
    • Basal metabolic rate in human subjects migrating between tropical and temperate regions: A longitudinal study and review of previous work
    • Hayter JE, Henry CJ. Basal metabolic rate in human subjects migrating between tropical and temperate regions: a longitudinal study and review of previous work. Eur J Clin Nutr 1993;47:724-34.
    • (1993) Eur J Clin Nutr , vol.47 , pp. 724-734
    • Hayter, J.E.1    Henry, C.J.2
  • 20
    • 0028799377 scopus 로고
    • Measured and predicted resting metabolic rate in obese and nonobese adolescents
    • Molnar D, Jeges S, Erhardt E, Schutz Y. Measured and predicted resting metabolic rate in obese and nonobese adolescents. J Pediatr 1995;127:571-7.
    • (1995) J Pediatr , vol.127 , pp. 571-577
    • Molnar, D.1    Jeges, S.2    Erhardt, E.3    Schutz, Y.4
  • 21
    • 0019916411 scopus 로고
    • Body composition of reference children from birth to age 10 years
    • Fomon SJ, Haschke F, Ziegler EE, Nelson SE. Body composition of reference children from birth to age 10 years. Am J Clin Nutr 1982;35:Suppl:1169-75.
    • (1982) Am J Clin Nutr , vol.35 , Issue.SUPPL. , pp. 1169-1175
    • Fomon, S.J.1    Haschke, F.2    Ziegler, E.E.3    Nelson, S.E.4
  • 23
    • 0025840531 scopus 로고
    • Body composition as a determinant of energy expenditure: A synthetic review and a proposed general prediction equation
    • Cunningham JJ. Body composition as a determinant of energy expenditure: a synthetic review and a proposed general prediction equation. Am J Clin Nutr 1991;54:963-9.
    • (1991) Am J Clin Nutr , vol.54 , pp. 963-969
    • Cunningham, J.J.1
  • 24
    • 17344387584 scopus 로고    scopus 로고
    • Amino acid variants in the human leptin receptor: Lack of association to juvenile onset obesity
    • Echwald SM, Sorensen TD, Sorensen TI, et al. Amino acid variants in the human leptin receptor: lack of association to juvenile onset obesity. Biochem Biophys Res Commun 1997;233:248-52.
    • (1997) Biochem Biophys Res Commun , vol.233 , pp. 248-252
    • Echwald, S.M.1    Sorensen, T.D.2    Sorensen, T.I.3
  • 25
    • 18344396039 scopus 로고    scopus 로고
    • A meta-analytic investigation of linkage and association of common leptin receptor (LEPR) polymorphisms with body mass index and waist circumference
    • Heo M, Leibel RL, Fontaine KR, et al. A meta-analytic investigation of linkage and association of common leptin receptor (LEPR) polymorphisms with body mass index and waist circumference. Int J Obes Relat Metab Disord 2002;26:640-6.
    • (2002) Int J Obes Relat Metab Disord , vol.26 , pp. 640-646
    • Heo, M.1    Leibel, R.L.2    Fontaine, K.R.3
  • 26
    • 0032407099 scopus 로고    scopus 로고
    • Interaction between body composition, leptin and growth hormone status
    • Casanueva FF, Dieguez C. Interaction between body composition, leptin and growth hormone status. Baillieres Clin Endocrinol Metab 1998;12:297-314.
    • (1998) Baillieres Clin Endocrinol Metab , vol.12 , pp. 297-314
    • Casanueva, F.F.1    Dieguez, C.2
  • 27
    • 33646833450 scopus 로고    scopus 로고
    • Effect of obesity and morbid obesity on the growth hormone (GH) secretion elicited by the combined GHRH + GHRP-6 test
    • Kelestimur F, Popovic V, Leal A, et al. Effect of obesity and morbid obesity on the growth hormone (GH) secretion elicited by the combined GHRH + GHRP-6 test. Clin Endocrinol (Oxf) 2006;64:667-71.
    • (2006) Clin Endocrinol (Oxf) , vol.64 , pp. 667-671
    • Kelestimur, F.1    Popovic, V.2    Leal, A.3
  • 28
    • 0033304576 scopus 로고    scopus 로고
    • Ozata M, Ozdemir IC, Licinio J. Human leptin deficiency caused by a missense mutation: multiple endocrine defects, decreased sympathetic tone, and immune system dysfunction indicate new targets for leptin action, greater central than peripheral resistance to the effects of leptin, and spontaneous correction of leptin-mediated defects. J Clin Endocrinol Metab 1999;84:3686-95. [Erratum, J Clin Endocrinol Metab 2000;85:416.]
    • Ozata M, Ozdemir IC, Licinio J. Human leptin deficiency caused by a missense mutation: multiple endocrine defects, decreased sympathetic tone, and immune system dysfunction indicate new targets for leptin action, greater central than peripheral resistance to the effects of leptin, and spontaneous correction of leptin-mediated defects. J Clin Endocrinol Metab 1999;84:3686-95. [Erratum, J Clin Endocrinol Metab 2000;85:416.]
  • 29
    • 0032572722 scopus 로고    scopus 로고
    • Leptin modulates the T-cell immune response and reverses starvation-induced immunosuppression
    • Lord GM, Matarese G, Howard JK, Baker RJ, Bloom SR, Lechler RI. Leptin modulates the T-cell immune response and reverses starvation-induced immunosuppression. Nature 1998;394:897-901.
    • (1998) Nature , vol.394 , pp. 897-901
    • Lord, G.M.1    Matarese, G.2    Howard, J.K.3    Baker, R.J.4    Bloom, S.R.5    Lechler, R.I.6
  • 30
    • 0031980203 scopus 로고    scopus 로고
    • Heterozygosity for Lep(ob) or Lep(rdb) affects body composition and leptin homeostasis in adult mice
    • Chung WK, Belfi K, Chua M, et al. Heterozygosity for Lep(ob) or Lep(rdb) affects body composition and leptin homeostasis in adult mice. Am J Physiol 1998;274:R985-R990.
    • (1998) Am J Physiol , vol.274
    • Chung, W.K.1    Belfi, K.2    Chua, M.3
  • 31
    • 0025094662 scopus 로고
    • Neuroendocrine control of the development of obesity: Understanding gained from studies of experimental models of obesity
    • Bray GA, Fisler JS, York DA. Neuroendocrine control of the development of obesity: understanding gained from studies of experimental models of obesity. Front Neuroendocrinol 1990;4:128-81.
    • (1990) Front Neuroendocrinol , vol.4 , pp. 128-181
    • Bray, G.A.1    Fisler, J.S.2    York, D.A.3


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