메뉴 건너뛰기




Volumn 67, Issue 4, 2007, Pages 479-484

Inherited lipodystrophies and the metabolic syndrome

Author keywords

[No Author keywords available]

Indexed keywords

ADIPOCYTOKINE; HIGH DENSITY LIPOPROTEIN CHOLESTEROL; LEPTIN;

EID: 34548688187     PISSN: 03000664     EISSN: 13652265     Source Type: Journal    
DOI: 10.1111/j.1365-2265.2007.02906.x     Document Type: Review
Times cited : (21)

References (42)
  • 2
    • 1542510700 scopus 로고    scopus 로고
    • Acquired and inherited lipodystrophies
    • Garg, A. (2004) Acquired and inherited lipodystrophies. New England Journal of Medicine, 350, 1220 1234.
    • (2004) New England Journal of Medicine , vol.350 , pp. 1220-1234
    • Garg, A.1
  • 4
    • 1542510700 scopus 로고    scopus 로고
    • Acquired and inherited lipodystrophies
    • Garg, A. (2004) Acquired and inherited lipodystrophies. New England Journal of Medicine, 350, 1220 1234.
    • (2004) New England Journal of Medicine , vol.350 , pp. 1220-1234
    • Garg, A.1
  • 5
    • 33750310241 scopus 로고    scopus 로고
    • Genetic disorders of adipose tissue development, differentiation, and death
    • Agarwal, A.K. Garg, A. (2006) Genetic disorders of adipose tissue development, differentiation, and death. Annual Review of Genomics and Human Genetics, 7, 175 199.
    • (2006) Annual Review of Genomics and Human Genetics , vol.7 , pp. 175-199
    • Agarwal, A.K.1    Garg, A.2
  • 12
    • 0015068895 scopus 로고
    • New syndrome manifested by mandibular hypoplasia, acroosteolysis, stiff joints and cutaneous atrophy (mandibuloacral dysplasia) in two unrelated boys
    • Young, L.W., Radebaugh, J.F., Rubin, P., Sensenbrenner, J.A., Fiorelli, G. Mckusick, V.A. (1971) New syndrome manifested by mandibular hypoplasia, acroosteolysis, stiff joints and cutaneous atrophy (mandibuloacral dysplasia) in two unrelated boys. Birth Defects Original Article Series, 7, 291 297.
    • (1971) Birth Defects Original Article Series , vol.7 , pp. 291-297
    • Young, L.W.1    Radebaugh, J.F.2    Rubin, P.3    Sensenbrenner, J.A.4    Fiorelli, G.5    McKusick, V.A.6
  • 13
    • 0036171687 scopus 로고    scopus 로고
    • Body fat distribution and metabolic derangements in patients with familial partial lipodystrophy associated with mandibuloacral dysplasia
    • Simha, V. Garg, A. (2002) Body fat distribution and metabolic derangements in patients with familial partial lipodystrophy associated with mandibuloacral dysplasia. Journal of Clinical Endocrinology and Metabolism, 87, 776 785.
    • (2002) Journal of Clinical Endocrinology and Metabolism , vol.87 , pp. 776-785
    • Simha, V.1    Garg, A.2
  • 14
    • 0041919374 scopus 로고    scopus 로고
    • Zinc metalloproteinase, ZMPSTE24, is mutated in mandibuloacral dysplasia
    • Agarwal, A.K., Fryns, J.P., Auchus, R.J. Garg, A. (2003) Zinc metalloproteinase, ZMPSTE24, is mutated in mandibuloacral dysplasia. Human Molecular Genetics, 12, 1995 2001.
    • (2003) Human Molecular Genetics , vol.12 , pp. 1995-2001
    • Agarwal, A.K.1    Fryns, J.P.2    Auchus, R.J.3    Garg, A.4
  • 16
    • 33845286555 scopus 로고    scopus 로고
    • Human laminopathies: Nuclei gone genetically awry
    • Capell, B.C. Collins, F.S. (2006) Human laminopathies: nuclei gone genetically awry. Nature Reviews Genetics, 7, 940 952.
    • (2006) Nature Reviews Genetics , vol.7 , pp. 940-952
    • Capell, B.C.1    Collins, F.S.2
  • 17
    • 20944446928 scopus 로고    scopus 로고
    • LMNA mutation position predicts organ system involvement in laminopathies
    • Hegele, R. (2005) LMNA mutation position predicts organ system involvement in laminopathies. Clinical Genetics, 68, 31 34.
    • (2005) Clinical Genetics , vol.68 , pp. 31-34
    • Hegele, R.1
  • 18
    • 7244239317 scopus 로고    scopus 로고
    • Hutchinson-Gilford progeria syndrome
    • Pollex, R.L. Hegele, R.A. (2004) Hutchinson-Gilford progeria syndrome. Clinical Genetics, 66, 375 381.
    • (2004) Clinical Genetics , vol.66 , pp. 375-381
    • Pollex, R.L.1    Hegele, R.A.2
  • 20
    • 0017347683 scopus 로고
    • Progeria: A cell culture study and clinical report of familial incidence
    • Rautenstrauch, T. Snigula, F. (1977) Progeria: a cell culture study and clinical report of familial incidence. European Journal of Pediatrics, 124, 101 111.
    • (1977) European Journal of Pediatrics , vol.124 , pp. 101-111
    • Rautenstrauch, T.1    Snigula, F.2
  • 23
    • 0016702194 scopus 로고
    • Lipodystrophy of the extremities. a dominantly inherited syndrome associated with lipatrophic diabetes
    • Kobberling, J., Willms, B., Kattermann, R. Creutzfeldt, W. (1975) Lipodystrophy of the extremities. A dominantly inherited syndrome associated with lipatrophic diabetes. Humangenetik, 29, 111 120.
    • (1975) Humangenetik , vol.29 , pp. 111-120
    • Kobberling, J.1    Willms, B.2    Kattermann, R.3    Creutzfeldt, W.4
  • 24
    • 0022593193 scopus 로고
    • Familial partial lipodystrophy: Two types of an X-linked dominant syndrome, lethal in the hemizygous state
    • Kobberling, J. Dunnigan, M.G. (1986) Familial partial lipodystrophy: two types of an X-linked dominant syndrome, lethal in the hemizygous state. Journal of Medical Genetics, 23, 120 127.
    • (1986) Journal of Medical Genetics , vol.23 , pp. 120-127
    • Kobberling, J.1    Dunnigan, M.G.2
  • 26
    • 0031028991 scopus 로고    scopus 로고
    • Dunnigan-Kobberling syndrome: An autosomal dominant form of partial lipodystrophy
    • Jackson, S.N., Howlett, T.A., Mcnally, P.G., O'Rahilly, S. Trembath, R.C. (1997) Dunnigan-Kobberling syndrome: an autosomal dominant form of partial lipodystrophy. QJM, 90, 27 36.
    • (1997) QJM , vol.90 , pp. 27-36
    • Jackson, S.N.1    Howlett, T.A.2    McNally, P.G.3    O'Rahilly, S.4    Trembath, R.C.5
  • 28
    • 0031932459 scopus 로고    scopus 로고
    • Localization of the gene for familial partial lipodystrophy (Dunnigan variety) to chromosome 1q21-22
    • Peters, J.M., Barnes, R., Bennett, L., Gitomer, W.M., Bowcock, A.M. Garg, A. (1998) Localization of the gene for familial partial lipodystrophy (Dunnigan variety) to chromosome 1q21-22. Nature Genetics, 18, 292 295.
    • (1998) Nature Genetics , vol.18 , pp. 292-295
    • Peters, J.M.1    Barnes, R.2    Bennett, L.3    Gitomer, W.M.4    Bowcock, A.M.5    Garg, A.6
  • 29
    • 0034059075 scopus 로고    scopus 로고
    • Nuclear lamin A/C R482Q mutation in Canadian kindreds with Dunnigan-type familial partial lipodystrophy
    • Cao, H. Hegele, R.A. (2000) Nuclear lamin A/C R482Q mutation in Canadian kindreds with Dunnigan-type familial partial lipodystrophy. Human Molecular Genetics, 9, 109 112.
    • (2000) Human Molecular Genetics , vol.9 , pp. 109-112
    • Cao, H.1    Hegele, R.A.2
  • 31
    • 0036146384 scopus 로고    scopus 로고
    • A novel heterozygous mutation in peroxisome proliferator-activated receptor-gamma gene in a patient with familial partial lipodystrophy
    • Agarwal, A.K. Garg, A. (2002) A novel heterozygous mutation in peroxisome proliferator-activated receptor-gamma gene in a patient with familial partial lipodystrophy. Journal of Clinical Endocrinology and Metabolism, 87, 408 411.
    • (2002) Journal of Clinical Endocrinology and Metabolism , vol.87 , pp. 408-411
    • Agarwal, A.K.1    Garg, A.2
  • 32
    • 0036894397 scopus 로고    scopus 로고
    • PPARG F388L, a transactivation-deficient mutant, in familial partial lipodystrophy
    • Hegele, R.A., Cao, H., Frankowski, C., Mathews, S.T. Leff, T. (2002) PPARG F388L, a transactivation-deficient mutant, in familial partial lipodystrophy. Diabetes, 51, 3586 3590.
    • (2002) Diabetes , vol.51 , pp. 3586-3590
    • Hegele, R.A.1    Cao, H.2    Frankowski, C.3    Mathews, S.T.4    Leff, T.5
  • 35
    • 33748705369 scopus 로고    scopus 로고
    • Semi-automated segmentation and quantification of adipose tissue in calf and thigh by MRI: A preliminary study in patients with monogenic metabolic syndrome
    • Al-Attar, S.A., Pollex, R.L., Robinson, J.F., Miskie, B.A., Walcarius, R., Rutt, B.K. Hegele, R.A. (2006) Semi-automated segmentation and quantification of adipose tissue in calf and thigh by MRI: a preliminary study in patients with monogenic metabolic syndrome. BMC Medical Imaging, 6, 11.
    • (2006) BMC Medical Imaging , vol.6 , pp. 11
    • Al-Attar, S.A.1    Pollex, R.L.2    Robinson, J.F.3    Miskie, B.A.4    Walcarius, R.5    Rutt, B.K.6    Hegele, R.A.7
  • 38
    • 33847410199 scopus 로고    scopus 로고
    • Analysis of genetic variation in Akt2/PKB-beta in severe insulin resistance, lipodystrophy, type 2 diabetes, and related metabolic phenotypes
    • Tan, K., Kimber, W.A., Luan, J., Soos, M.A., Semple, R.K., Wareham, N.J., O'Rahilly, S. Barroso, I. (2007) Analysis of genetic variation in Akt2/PKB-beta in severe insulin resistance, lipodystrophy, type 2 diabetes, and related metabolic phenotypes. Diabetes, 56, 714 719.
    • (2007) Diabetes , vol.56 , pp. 714-719
    • Tan, K.1    Kimber, W.A.2    Luan, J.3    Soos, M.A.4    Semple, R.K.5    Wareham, N.J.6    O'Rahilly, S.7    Barroso, I.8
  • 39
    • 21344447493 scopus 로고    scopus 로고
    • Long-term efficacy of leptin replacement in patients with generalized lipodystrophy
    • Javor, E.D., Cochran, E.K., Musso, C., Young, J.R., Depaoli, A.M. Gorden, P. (2005) Long-term efficacy of leptin replacement in patients with generalized lipodystrophy. Diabetes, 54, 1994 2002.
    • (2005) Diabetes , vol.54 , pp. 1994-2002
    • Javor, E.D.1    Cochran, E.K.2    Musso, C.3    Young, J.R.4    Depaoli, A.M.5    Gorden, P.6
  • 42
    • 22544449911 scopus 로고    scopus 로고
    • Adipose tissue transplantation protects ob/ob mice from obesity, normalizes insulin sensitivity and restores fertility
    • Klebanov, S., Astle, C.M., Desimone, O., Ablamunits, V. Harrison, D.E. (2005) Adipose tissue transplantation protects ob/ob mice from obesity, normalizes insulin sensitivity and restores fertility. Journal of Endocrinology, 186, 203 211.
    • (2005) Journal of Endocrinology , vol.186 , pp. 203-211
    • Klebanov, S.1    Astle, C.M.2    Desimone, O.3    Ablamunits, V.4    Harrison, D.E.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.