-
1
-
-
1542510700
-
Acquired and inherited lipodystrophies
-
Garg A. Acquired and inherited lipodystrophies. N Engl J Med. 2004;350:1220–34.
-
(2004)
N Engl J Med
, vol.350
, pp. 1220-1234
-
-
Garg, A.1
-
2
-
-
0029895842
-
Generalized lipodystrophy, congenital and acquired (Lipoatrophy)
-
Seip M, Trygstad O. Generalized lipodystrophy, congenital and acquired (lipoatrophy). Acta Paediatr Suppl. 1996;413:2–28.
-
(1996)
Acta Paediatr Suppl
, vol.413
, pp. 2-28
-
-
Seip, M.1
Trygstad, O.2
-
3
-
-
10744220431
-
Phenotypic and genetic heterogeneity in congenital generalized lipodystrophy
-
Agarwal AK, Simha V, Oral EA, et al. Phenotypic and genetic heterogeneity in congenital generalized lipodystrophy. J Clin Endocrinol Metab. 2003;88:4840–7.
-
(2003)
J Clin Endocrinol Metab
, vol.88
, pp. 4840-4847
-
-
Agarwal, A.K.1
Simha, V.2
Oral, E.A.3
-
4
-
-
18644371065
-
Genotype-phenotype relationships in Berardinelli- Seip congenital lipodystrophy
-
Van Maldergem L, Magre J, Khallouf TE, et al. Genotype-phenotype relationships in Berardinelli- Seip congenital lipodystrophy. J Med Genet. 2002;39:722–33.
-
(2002)
J Med Genet
, vol.39
, pp. 722-733
-
-
Van Maldergem, L.1
Magre, J.2
Khallouf, T.E.3
-
5
-
-
0033305362
-
A gene for congenital generalized lipodystrophy maps to human chromosome 9q34
-
Garg A, Wilson R, Barnes R, et al. A gene for congenital generalized lipodystrophy maps to human chromosome 9q34. J Clin Endocrinol Metab. 1999;84:3390–4.
-
(1999)
J Clin Endocrinol Metab
, vol.84
, pp. 3390-3394
-
-
Garg, A.1
Wilson, R.2
Barnes, R.3
-
6
-
-
0036578783
-
AGPAT2 is mutated in congenital generalized lipodystrophy linked to chromosome 9q34
-
Agarwal AK, Arioglu E, De Almeida S, et al. AGPAT2 is mutated in congenital generalized lipodystrophy linked to chromosome 9q34. Nat Genet. 2002;31:21–3.
-
(2002)
Nat Genet
, vol.31
, pp. 21-23
-
-
Agarwal, A.K.1
Arioglu, E.2
De Almeida, S.3
-
7
-
-
0034941121
-
Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13
-
Magre J, Delepine M, Khallouf E, et al. Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13. Nat Genet. 2001;28:365–70.
-
(2001)
Nat Genet
, vol.28
, pp. 365-370
-
-
Magre, J.1
Delepine, M.2
Khallouf, E.3
-
8
-
-
41549146084
-
Association of a homozygous nonsense caveolin-1 mutation with Berardinelli-Seip congenital lipodystrophy
-
Kim CA, Delepine M, Boutet E, et al. Association of a homozygous nonsense caveolin-1 mutation with Berardinelli-Seip congenital lipodystrophy. J Clin Endocrinol Metab. 2008;93:1129–34.
-
(2008)
J Clin Endocrinol Metab
, vol.93
, pp. 1129-1134
-
-
Kim, C.A.1
Delepine, M.2
Boutet, E.3
-
9
-
-
70349195987
-
Human PTRF mutations cause secondary deficiency of caveolins resulting in muscular dystrophy with generalized lipodystrophy
-
Hayashi YK, Matsuda C, Ogawa M, et al. Human PTRF mutations cause secondary deficiency of caveolins resulting in muscular dystrophy with generalized lipodystrophy. J Clin Invest. 2009;119:2623–33.
-
(2009)
J Clin Invest
, vol.119
, pp. 2623-2633
-
-
Hayashi, Y.K.1
Matsuda, C.2
Ogawa, M.3
-
10
-
-
51449114051
-
Novel subtype of congenital generalized lipodystrophy associated with muscular weakness and cervical spine instability
-
Simha V, Agarwal AK, Aronin PA et al. Novel subtype of congenital generalized lipodystrophy associated with muscular weakness and cervical spine instability. Am J Med Genet A. 2008; 146A:2318–26.
-
(2008)
Am J Med Genet A
, vol.146A
, pp. 2318-2326
-
-
Simha, V.1
Agarwal, A.K.2
Aronin, P.A.3
-
11
-
-
0344442411
-
Phenotypic heterogeneity in body fat distribution in patients with congenital generalized lipodystrophy caused by mutations in the AGPAT2 or seipin genes
-
Simha V, Garg A. Phenotypic heterogeneity in body fat distribution in patients with congenital generalized lipodystrophy caused by mutations in the AGPAT2 or seipin genes. J Clin Endocrinol Metab. 2003;88:5433–7.
-
(2003)
J Clin Endocrinol Metab
, vol.88
, pp. 5433-5437
-
-
Simha, V.1
Garg, A.2
-
12
-
-
77950431859
-
Fatal cardiac arrhythmia and long-QT syndrome in a new form of congenital generalized lipodystrophy with muscle rippling (CGL4) due to PTRF-CAVIN mutations
-
Rajab A, Straub V, McCann LJ, et al. Fatal cardiac arrhythmia and long-QT syndrome in a new form of congenital generalized lipodystrophy with muscle rippling (CGL4) due to PTRF-CAVIN mutations. PLoS Genet. 2010; 6:e1000874.
-
(2010)
Plos Genet
, vol.6
-
-
Rajab, A.1
Straub, V.2
McCann, L.J.3
-
13
-
-
77956097576
-
Congenital generalized lipodystrophy, type 4 (CGL4) associated with myopathy due to novel PTRF mutations
-
Shastry S, Delgado MR, Dirik E, et al. Congenital generalized lipodystrophy, type 4 (CGL4) associated with myopathy due to novel PTRF mutations. Am J Med Genet A. 2010; 152A:2245–53.
-
(2010)
Am J Med Genet A
, vol.152A
, pp. 2245-2253
-
-
Shastry, S.1
Delgado, M.R.2
Dirik, E.3
-
14
-
-
0034059075
-
Nuclear lamin A/C R482Q mutation in Canadian kindreds with Dunnigan-type familial partial lipodystrophy
-
Cao H, Hegele RA. Nuclear lamin A/C R482Q mutation in Canadian kindreds with Dunnigan-type familial partial lipodystrophy. Hum Mol Genet. 2000;9:109–12.
-
(2000)
Hum Mol Genet
, vol.9
, pp. 109-112
-
-
Cao, H.1
Hegele, R.A.2
-
15
-
-
0033951216
-
LMNA, encoding lamin A/C, is mutated in partial lipodystrophy
-
Shackleton S, Lloyd DJ, Jackson SN, et al. LMNA, encoding lamin A/C, is mutated in partial lipodystrophy. Nature genetics. 2000;24:153–6.
-
(2000)
Nature Genetics
, vol.24
, pp. 153-156
-
-
Shackleton, S.1
Lloyd, D.J.2
Jackson, S.N.3
-
16
-
-
0033912260
-
Mutational and haplotype analyses of families with familial partial lipodystrophy (Dunnigan variety) reveal recurrent missense mutations in the globular C-terminal domain of lamin A/C
-
Speckman RA, Garg A, Du F, et al. Mutational and haplotype analyses of families with familial partial lipodystrophy (Dunnigan variety) reveal recurrent missense mutations in the globular C-terminal domain of lamin A/C. Am J Hum Genet. 2000;66:1192–8.
-
(2000)
Am J Hum Genet
, vol.66
, pp. 1192-1198
-
-
Speckman, R.A.1
Garg, A.2
Du, F.3
-
17
-
-
0036146384
-
A novel heterozygous mutation in peroxisome proliferator-activated receptor-gamma gene in a patient with familial partial lipodystrophy
-
Agarwal AK, Garg A. A novel heterozygous mutation in peroxisome proliferator-activated receptor-gamma gene in a patient with familial partial lipodystrophy. J Clin Endocrinol Metab. 2002;87:408–11.
-
(2002)
J Clin Endocrinol Metab
, vol.87
, pp. 408-411
-
-
Agarwal, A.K.1
Garg, A.2
-
18
-
-
0036894397
-
PPARG F388 L, a transactivation-deficient mutant, in familial partial lipodystrophy
-
Hegele RA, Cao H, Frankowski C, et al. PPARG F388 L, a transactivation-deficient mutant, in familial partial lipodystrophy. Diabetes. 2002;51:3586–90.
-
(2002)
Diabetes
, vol.51
, pp. 3586-3590
-
-
Hegele, R.A.1
Cao, H.2
Frankowski, C.3
-
20
-
-
2542528670
-
A family with severe insulin resistance and diabetes due to a mutation in AKT2
-
George S, Rochford JJ, Wolfrum C, et al. A family with severe insulin resistance and diabetes due to a mutation in AKT2. Science. 2004;304:1325–8.
-
(2004)
Science
, vol.304
, pp. 1325-1328
-
-
George, S.1
Rochford, J.J.2
Wolfrum, C.3
-
21
-
-
0015979147
-
Familial lipoatrophic diabetes with dominant transmission. A new syndrome
-
Dunnigan MG, Cochrane MA, Kelly A, Scott JW. Familial lipoatrophic diabetes with dominant transmission. A new syndrome. Q J Med. 1974;43:33–48.
-
(1974)
Q J Med
, vol.43
, pp. 33-48
-
-
Dunnigan, M.G.1
Cochrane, M.A.2
Kelly, A.3
Scott, J.W.4
-
22
-
-
0032959251
-
Adipose tissue distribution pattern in patients with familial partial lipodystrophy (Dunnigan variety)
-
Garg A, Peshock RM, Fleckenstein JL. Adipose tissue distribution pattern in patients with familial partial lipodystrophy (Dunnigan variety). J Clin Endocrinol Metab. 1999;84:170–4.
-
(1999)
J Clin Endocrinol Metab
, vol.84
, pp. 170-174
-
-
Garg, A.1
Peshock, R.M.2
Fleckenstein, J.L.3
-
23
-
-
0035145898
-
Phenotypic heterogeneity in patients with familial partial lipodystrophy (Dunnigan variety) related to the site of missense mutations in lamin a/c gene
-
Garg A, Vinaitheerthan M, Weatherall PT, Bowcock AM. Phenotypic heterogeneity in patients with familial partial lipodystrophy (dunnigan variety) related to the site of missense mutations in lamin a/c gene. J Clin Endocrinol Metab. 2001;86:59–65.
-
(2001)
J Clin Endocrinol Metab
, vol.86
, pp. 59-65
-
-
Garg, A.1
Vinaitheerthan, M.2
Weatherall, P.T.3
Bowcock, A.M.4
-
24
-
-
0034455698
-
Gender differences in the prevalence of metabolic complications in familial partial lipodystrophy (Dunnigan variety)
-
Garg A. Gender differences in the prevalence of metabolic complications in familial partial lipodystrophy (Dunnigan variety). J Clin Endocrinol Metab. 2000;85:1776–82.
-
(2000)
J Clin Endocrinol Metab
, vol.85
, pp. 1776-1782
-
-
Garg, A.1
-
25
-
-
0036098280
-
Multisystem dystrophy syndrome due to novel missense mutations in the amino-terminal head and alpha-helical rod domains of the lamin A/C gene
-
Garg A, Speckman RA, Bowcock AM. Multisystem dystrophy syndrome due to novel missense mutations in the amino-terminal head and alpha-helical rod domains of the lamin A/C gene. Am J Med. 2002;112:549–55.
-
(2002)
Am J Med
, vol.112
, pp. 549-555
-
-
Garg, A.1
Speckman, R.A.2
Bowcock, A.M.3
-
26
-
-
77954581091
-
Overlapping syndrome with familial partial lipodystrophy, Dunnigan variety and cardiomyopathy due to amino-terminal heterozygous missense lamin A/C mutations
-
Subramanyam L, Simha V, Garg A. Overlapping syndrome with familial partial lipodystrophy, Dunnigan variety and cardiomyopathy due to amino-terminal heterozygous missense lamin A/C mutations. Clin Genet. 2010;78:66–73.
-
(2010)
Clin Genet
, vol.78
, pp. 66-73
-
-
Subramanyam, L.1
Simha, V.2
Garg, A.3
-
27
-
-
0036171687
-
Body fat distribution and metabolic derangements in patients with familial partial lipodystrophy associated with mandibuloacral dysplasia
-
Simha V, Garg A. Body fat distribution and metabolic derangements in patients with familial partial lipodystrophy associated with mandibuloacral dysplasia. J Clin Endocrinol Metab. 2002;87:776–85.
-
(2002)
J Clin Endocrinol Metab
, vol.87
, pp. 776-785
-
-
Simha, V.1
Garg, A.2
-
28
-
-
12244293441
-
Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C
-
Novelli G, Muchir A, Sangiuolo F, et al. Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C. Am J Hum Genet. 2002;71:426–31.
-
(2002)
Am J Hum Genet
, vol.71
, pp. 426-431
-
-
Novelli, G.1
Muchir, A.2
Sangiuolo, F.3
-
29
-
-
0041919374
-
Zinc metalloproteinase, ZMPSTE24, is mutated in mandibuloacral dysplasia
-
Agarwal AK, Fryns JP, Auchus RJ, Garg A. Zinc metalloproteinase, ZMPSTE24, is mutated in mandibuloacral dysplasia. Hum Mol Genet. 2003;12:1995–2001
-
(2003)
Hum Mol Genet
, vol.12
, pp. 1995-2001
-
-
Agarwal, A.K.1
Fryns, J.P.2
Auchus, R.J.3
Garg, A.4
-
30
-
-
38949105879
-
Phenotype and course of Hutchinson-Gilford progeria syndrome
-
Merideth MA, Gordon LB, Clauss S, et al. Phenotype and course of Hutchinson-Gilford progeria syndrome. N Engl J Med. 2008;358:592–604.
-
(2008)
N Engl J Med
, vol.358
, pp. 592-604
-
-
Merideth, M.A.1
Gordon, L.B.2
Clauss, S.3
-
31
-
-
28744453386
-
Phenotypic heterogeneity in body fat distribution in patients with atypical Werner’s syndrome due to heterozygous Arg133Leu lamin A/C mutation
-
Jacob KN, Baptista F, dos Santos HG, et al. Phenotypic heterogeneity in body fat distribution in patients with atypical Werner’s syndrome due to heterozygous Arg133Leu lamin A/C mutation. J Clin Endocrinol Metab. 2005;90:6699–706.
-
(2005)
J Clin Endocrinol Metab
, vol.90
, pp. 6699-6706
-
-
Jacob, K.N.1
Baptista, F.2
Dos Santos, H.G.3
-
32
-
-
34447341169
-
Body fat distribution and metabolic variables in patients with neonatal progeroid syndrome
-
O’Neill B, Simha V, Kotha V, Garg A. Body fat distribution and metabolic variables in patients with neonatal progeroid syndrome. Am J Med Genet A. 2007;143:1421–30.
-
(2007)
Am J Med Genet A
, vol.143
, pp. 1421-1430
-
-
O’Neill, B.1
Simha, V.2
Kotha, V.3
Garg, A.4
-
33
-
-
79953329358
-
Further evidence for a marfanoid syndrome with neonatal progeroid features and severe generalized lipodystrophy due to frameshift mutations near the 3’ end of the FBN1 gene
-
Goldblatt J, Hyatt J, Edwards C, Walpole I. Further evidence for a marfanoid syndrome with neonatal progeroid features and severe generalized lipodystrophy due to frameshift mutations near the 3’ end of the FBN1 gene. Am J Med Genet A. 2011;155A:717–20.
-
(2011)
Am J Med Genet A
, vol.155A
, pp. 717-720
-
-
Goldblatt, J.1
Hyatt, J.2
Edwards, C.3
Walpole, I.4
-
34
-
-
78049297136
-
Marfan syndrome with neonatal progeroid syndromelike lipodystrophy associated with a novel frameshift mutation at the 3’ terminus of the FBN1-gene
-
Graul-Neumann LM, Kienitz T, Robinson PN, et al. Marfan syndrome with neonatal progeroid syndromelike lipodystrophy associated with a novel frameshift mutation at the 3’ terminus of the FBN1-gene. Am J Med Genet A. 2010;152A:2749–55.
-
(2010)
Am J Med Genet A
, vol.152A
, pp. 2749-2755
-
-
Graul-Neumann, L.M.1
Kienitz, T.2
Robinson, P.N.3
-
35
-
-
79953324900
-
Progeroid facial features and lipodystrophy associated with a novel splice site mutation in the final intron of the FBN1 gene
-
Horn D, Robinson PN. Progeroid facial features and lipodystrophy associated with a novel splice site mutation in the final intron of the FBN1 gene. Am J Med Genet A. 2011;155A:721–4.
-
(2011)
Am J Med Genet A
, vol.155A
, pp. 721-724
-
-
Horn, D.1
Robinson, P.N.2
-
36
-
-
84898916447
-
De novo heterozygous FBN1 mutations in the extreme C-terminal region cause progeroid fibrillinopathy
-
Garg A, Xing C. De novo heterozygous FBN1 mutations in the extreme C-terminal region cause progeroid fibrillinopathy. Am J Med Genet A. 2014;164A(5):1341–5.
-
(2014)
Am J Med Genet A
, vol.164A
, Issue.5
, pp. 1341-1345
-
-
Garg, A.1
Xing, C.2
-
37
-
-
0020583122
-
Autosomal dominant partial lipodystrophy associated with Rieger anomaly, short stature, and insulinopenic diabetes
-
Aarskog D, Ose L, Pande H, Eide N. Autosomal dominant partial lipodystrophy associated with Rieger anomaly, short stature, and insulinopenic diabetes. Am J Med Genet. 1983;15:29–38.
-
(1983)
Am J Med Genet
, vol.15
, pp. 29-38
-
-
Aarskog, D.1
Ose, L.2
Pande, H.3
Eide, N.4
-
38
-
-
0030052498
-
SHORT syndrome: A new case with probable autosomal dominant inheritance
-
Sorge G, Ruggieri M, Polizzi A, et al. SHORT syndrome: a new case with probable autosomal dominant inheritance. Am J Med Genet. 1996;61:178–81.
-
(1996)
Am J Med Genet
, vol.61
, pp. 178-181
-
-
Sorge, G.1
Ruggieri, M.2
Polizzi, A.3
-
39
-
-
84880251974
-
SHORT syndrome with partial lipodystrophy due to impaired phosphatidylinositol 3 kinase signaling
-
Chudasama KK, Winnay J, Johansson S, et al. SHORT syndrome with partial lipodystrophy due to impaired phosphatidylinositol 3 kinase signaling. Am J Hum Genet. 2013;93:150–7.
-
(2013)
Am J Hum Genet
, vol.93
, pp. 150-157
-
-
Chudasama, K.K.1
Winnay, J.2
Johansson, S.3
-
41
-
-
77956579857
-
An autosomal recessive syndrome of joint contractures, muscular atrophy, microcytic anemia, and panniculitis- associated lipodystrophy
-
Garg A, Hernandez MD, Sousa AB, et al. An autosomal recessive syndrome of joint contractures, muscular atrophy, microcytic anemia, and panniculitis- associated lipodystrophy. J Clin Endocrinol Metab. 2010;95:E58–63.
-
(2010)
J Clin Endocrinol Metab
, vol.95
-
-
Garg, A.1
Hernandez, M.D.2
Sousa, A.B.3
-
42
-
-
78649775528
-
PSMB8 encoding the beta5i proteasome subunit is mutated in joint contractures, muscle atrophy, microcytic anemia, and panniculitis-induced lipodystrophy syndrome
-
Agarwal AK, Xing C, DeMartino GN, et al. PSMB8 encoding the beta5i proteasome subunit is mutated in joint contractures, muscle atrophy, microcytic anemia, and panniculitis-induced lipodystrophy syndrome. Am J Hum Genet. 2010;87:866–72.
-
(2010)
Am J Hum Genet
, vol.87
, pp. 866-872
-
-
Agarwal, A.K.1
Xing, C.2
Demartino, G.N.3
-
43
-
-
2442515965
-
Proteasome function in antigen presentation: Immunoproteasome complexes, Peptide production, and interactions with viral proteins
-
Rivett AJ, Hearn AR. Proteasome function in antigen presentation: immunoproteasome complexes, Peptide production, and interactions with viral proteins. Curr Protein Pept Sci. 2004;5:153–61.
-
(2004)
Curr Protein Pept Sci
, vol.5
, pp. 153-161
-
-
Rivett, A.J.1
Hearn, A.R.2
-
44
-
-
76249121423
-
Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome
-
Torrelo A, Patel S, Colmenero I, et al. Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome. J Am Acad Dermatol. 2010;62:489–95.
-
(2010)
J am Acad Dermatol
, vol.62
, pp. 489-495
-
-
Torrelo, A.1
Patel, S.2
Colmenero, I.3
-
45
-
-
80052836194
-
Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome: A case report
-
2010:epub ahead of print
-
Ramot Y, Czarnowicki T, Maly A, et al. Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome: a case report. Pediatr Dermatol. 2011;28(5)538–41 (2010:epub ahead of print).
-
(2011)
Pediatr Dermatol
, vol.28
, Issue.5
, pp. 538-541
-
-
Ramot, Y.1
Czarnowicki, T.2
Maly, A.3
-
46
-
-
77957820683
-
A novel syndrome of mandibular hypoplasia, deafness, and progeroid features associated with lipodystrophy, undescended testes, and male hypogonadism
-
Shastry S, Simha V, Godbole K, et al. A novel syndrome of mandibular hypoplasia, deafness, and progeroid features associated with lipodystrophy, undescended testes, and male hypogonadism. J Clin Endocrinol Metab. 2010;95:E192–7.
-
(2010)
J Clin Endocrinol Metab
, vol.95
-
-
Shastry, S.1
Simha, V.2
Godbole, K.3
-
47
-
-
84881025265
-
An in-frame deletion at the polymerase active site of POLD1 causes a multisystem disorder with lipodystrophy
-
Weedon MN, Ellard S, Prindle MJ, et al. An in-frame deletion at the polymerase active site of POLD1 causes a multisystem disorder with lipodystrophy. Nat Genet. 2013;45:947–50.
-
(2013)
Nat Genet
, vol.45
, pp. 947-950
-
-
Weedon, M.N.1
Ellard, S.2
Prindle, M.J.3
-
48
-
-
36549038120
-
Mutations in LMF1 cause combined lipase deficiency and severe hypertriglyceridemia
-
Peterfy M, Ben-Zeev O, Mao HZ, et al. Mutations in LMF1 cause combined lipase deficiency and severe hypertriglyceridemia. Nat Genet. 2007;39:1483–7.
-
(2007)
Nat Genet
, vol.39
, pp. 1483-1487
-
-
Peterfy, M.1
Ben-Zeev, O.2
Mao, H.Z.3
-
49
-
-
0035018124
-
Adipose tissue fatty acid composition in humans with lipoprotein lipase deficiency
-
Ullrich NF, Purnell JQ, Brunzell JD. Adipose tissue fatty acid composition in humans with lipoprotein lipase deficiency. J Investig Med. 2001;49:273–5.
-
(2001)
J Investig Med
, vol.49
, pp. 273-275
-
-
Ullrich, N.F.1
Purnell, J.Q.2
Brunzell, J.D.3
-
50
-
-
0036833472
-
Lipodystrophy in human immunodeficiency virus-infected patients
-
Chen D, Misra A, Garg A. Lipodystrophy in human immunodeficiency virus-infected patients. J Clin Endocrinol Metab. 2002;87:4845–56.
-
(2002)
J Clin Endocrinol Metab
, vol.87
, pp. 4845-4856
-
-
Chen, D.1
Misra, A.2
Garg, A.3
-
51
-
-
0034457885
-
HIV protease inhibitor-related lipodystrophy syndrome
-
Carr A. HIV protease inhibitor-related lipodystrophy syndrome. Clin Infect Dis. 2000;30(Suppl 2):S135–42.
-
(2000)
Clin Infect Dis
, vol.30
, Issue.2
-
-
Carr, A.1
-
52
-
-
11344293751
-
Cardiovascular risk and bodyfat abnormalities in HIV-infected adults
-
Grinspoon S, Carr A. Cardiovascular risk and bodyfat abnormalities in HIV-infected adults. N Engl J Med. 2005;352:48–62.
-
(2005)
N Engl J Med
, vol.352
, pp. 48-62
-
-
Grinspoon, S.1
Carr, A.2
-
53
-
-
1542642958
-
Clinical features and metabolic and autoimmune derangements in acquired partial lipodystrophy: Report of 35 cases and review of the literature
-
Misra A, Peethambaram A, Garg A. Clinical features and metabolic and autoimmune derangements in acquired partial lipodystrophy: report of 35 cases and review of the literature. Medicine (Baltimore). 2004;83:18–34.
-
(2004)
Medicine (Baltimore)
, vol.83
, pp. 18-34
-
-
Misra, A.1
Peethambaram, A.2
Garg, A.3
-
54
-
-
0037339129
-
Clinical features and metabolic derangements in acquired generalized lipodystrophy: Case reports and review of the literature
-
Misra A, Garg A. Clinical features and metabolic derangements in acquired generalized lipodystrophy: case reports and review of the literature. Medicine. 2003;82:129–46.
-
(2003)
Medicine
, vol.82
, pp. 129-146
-
-
Misra, A.1
Garg, A.2
-
56
-
-
48349108128
-
HIVprotease inhibitors block the enzymatic activity of purified Ste24p
-
Hudon SE, Coffinier C, Michaelis S, et al. HIVprotease inhibitors block the enzymatic activity of purified Ste24p. Biochem Biophys Res Commun. 2008;374:365–8.
-
(2008)
Biochem Biophys Res Commun
, vol.374
, pp. 365-368
-
-
Hudon, S.E.1
Coffinier, C.2
Michaelis, S.3
-
57
-
-
0037161026
-
Association between altered expression of adipogenic factor SREBP1 in lipoatrophic adipose tissue from HIV-1-infected patients and abnormal adipocyte differentiation and insulin resistance
-
Bastard JP, Caron M, Vidal H, et al. Association between altered expression of adipogenic factor SREBP1 in lipoatrophic adipose tissue from HIV-1-infected patients and abnormal adipocyte differentiation and insulin resistance. Lancet. 2002;359:1026–31.
-
(2002)
Lancet
, vol.359
, pp. 1026-1031
-
-
Bastard, J.P.1
Caron, M.2
Vidal, H.3
-
58
-
-
0034008520
-
A syndrome of lipoatrophy, lactic acidaemia and liver dysfunction associated with HIV nucleoside analogue therapy: Contribution to protease inhibitor-related lipodystrophy syndrome
-
Carr A, Miller J, Law M, Cooper DA. A syndrome of lipoatrophy, lactic acidaemia and liver dysfunction associated with HIV nucleoside analogue therapy: contribution to protease inhibitor-related lipodystrophy syndrome. AIDS. 2000; 14:F25–32.
-
(2000)
AIDS
, vol.14
, pp. F25-F32
-
-
Carr, A.1
Miller, J.2
Law, M.3
Cooper, D.A.4
-
59
-
-
0346995096
-
Toxicity of nucleoside analogues used to treat AIDS and the selectivity of the mitochondrial DNA polymerase
-
Lee H, Hanes J, Johnson KA. Toxicity of nucleoside analogues used to treat AIDS and the selectivity of the mitochondrial DNA polymerase. Biochemistry. 2003;42:14711–9.
-
(2003)
Biochemistry
, vol.42
, pp. 14711-14719
-
-
Lee, H.1
Hanes, J.2
Johnson, K.A.3
-
60
-
-
33645500068
-
Lipodystrophy: Lessons in lipid and energy metabolism
-
Simha V, Garg A. Lipodystrophy: lessons in lipid and energy metabolism. Curr Opin Lipidol. 2006;17:162–9.
-
(2006)
Curr Opin Lipidol
, vol.17
, pp. 162-169
-
-
Simha, V.1
Garg, A.2
-
61
-
-
14844304398
-
Reduced adiponectin and HDL cholesterol without elevated C-reactive protein: Clues to the biology of premature atherosclerosis in Hutchinson-Gilford Progeria Syndrome
-
Gordon LB, Harten IA, Patti ME, Lichtenstein AH. Reduced adiponectin and HDL cholesterol without elevated C-reactive protein: clues to the biology of premature atherosclerosis in Hutchinson-Gilford Progeria Syndrome. J Pediatr. 2005;146:336–41.
-
(2005)
J Pediatr
, vol.146
, pp. 336-341
-
-
Gordon, L.B.1
Harten, I.A.2
Patti, M.E.3
Lichtenstein, A.H.4
-
62
-
-
0042736696
-
LMNA mutations in atypical Werner’s syndrome
-
Chen L, Lee L, Kudlow BA, et al. LMNA mutations in atypical Werner’s syndrome. Lancet. 2003;362:440–5.
-
(2003)
Lancet
, vol.362
, pp. 440-445
-
-
Chen, L.1
Lee, L.2
Kudlow, B.A.3
-
63
-
-
33644827082
-
Overproduction of large VLDL particles is driven by increased liver fat content in man
-
Adiels M, Taskinen MR, Packard C, et al. Overproduction of large VLDL particles is driven by increased liver fat content in man. Diabetologia. 2006;49:755–65.
-
(2006)
Diabetologia
, vol.49
, pp. 755-765
-
-
Adiels, M.1
Taskinen, M.R.2
Packard, C.3
-
65
-
-
48749110651
-
Lipid droplets: A classic organelle with new outfits
-
Fujimoto T, Ohsaki Y, Cheng J, et al. Lipid droplets: a classic organelle with new outfits. Histochem Cell Biol. 2008;130:263–79.
-
(2008)
Histochem Cell Biol
, vol.130
, pp. 263-279
-
-
Fujimoto, T.1
Ohsaki, Y.2
Cheng, J.3
-
66
-
-
38049184643
-
The lipodystrophy protein seipin is found at endoplasmic reticulum lipid droplet junctions and is important for droplet morphology
-
Szymanski KM, Binns D, Bartz R, et al. The lipodystrophy protein seipin is found at endoplasmic reticulum lipid droplet junctions and is important for droplet morphology. Proc Natl Acad Sci U S A. 2007;104:20890–95.
-
(2007)
Proc Natl Acad Sci U S A
, vol.104
, pp. 20890-20895
-
-
Szymanski, K.M.1
Binns, D.2
Bartz, R.3
-
67
-
-
39049151385
-
Fld1p, a functional homologue of human seipin, regulates the size of lipid droplets in yeast
-
Fei W, Shui G, Gaeta B, et al. Fld1p, a functional homologue of human seipin, regulates the size of lipid droplets in yeast. J Cell Biol. 2008;180:473–82.
-
(2008)
J Cell Biol
, vol.180
, pp. 473-482
-
-
Fei, W.1
Shui, G.2
Gaeta, B.3
-
68
-
-
2342510295
-
Role of caveolin- 1 in the modulation of lipolysis and lipid droplet formation
-
Cohen AW, Razani B, Schubert W, et al. Role of caveolin- 1 in the modulation of lipolysis and lipid droplet formation. Diabetes. 2004;53:1261–70.
-
(2004)
Diabetes
, vol.53
, pp. 1261-1270
-
-
Cohen, A.W.1
Razani, B.2
Schubert, W.3
-
69
-
-
33745844829
-
Cholesterol- induced caveolin targeting to lipid droplets in adipocytes: A role for caveolar endocytosis
-
Le Lay S, Hajduch E, Lindsay MR, et al. Cholesterol- induced caveolin targeting to lipid droplets in adipocytes: a role for caveolar endocytosis. Traffic. 2006;7:549–61.
-
(2006)
Traffic
, vol.7
, pp. 549-561
-
-
Le Lay, S.1
Hajduch, E.2
Lindsay, M.R.3
-
70
-
-
58749091644
-
Molecular mechanisms of hepatic steatosis and insulin resistance in the AGPAT2-deficient mouse model of congenital generalized lipodystrophy
-
Cortes VA, Curtis DE, Sukumaran S, et al. Molecular mechanisms of hepatic steatosis and insulin resistance in the AGPAT2-deficient mouse model of congenital generalized lipodystrophy. Cell Metab. 2009;9:165–76.
-
(2009)
Cell Metab
, vol.9
, pp. 165-176
-
-
Cortes, V.A.1
Curtis, D.E.2
Sukumaran, S.3
-
71
-
-
0023932658
-
Metabolic studies in lipoatrophic diabetes: Mechanism of hyperglycemia and evidence of resistance to insulin of lipid metabolism
-
Beylot M, Sautot G, Laville M, Cohen R. Metabolic studies in lipoatrophic diabetes: mechanism of hyperglycemia and evidence of resistance to insulin of lipid metabolism. Diabete Metab. 1988;14:20–4.
-
(1988)
Diabete Metab
, vol.14
, pp. 20-24
-
-
Beylot, M.1
Sautot, G.2
Laville, M.3
Cohen, R.4
-
72
-
-
61749100743
-
Postreceptor insulin resistance contributes to human dyslipidemia and hepatic steatosis
-
Semple RK, Sleigh A, Murgatroyd PR, et al. Postreceptor insulin resistance contributes to human dyslipidemia and hepatic steatosis. J Clin Invest. 2009;119:315–22.
-
(2009)
J Clin Invest
, vol.119
, pp. 315-322
-
-
Semple, R.K.1
Sleigh, A.2
Murgatroyd, P.R.3
-
73
-
-
0037148928
-
Leptin-replacement therapy for lipodystrophy
-
Oral EA, Simha V, Ruiz E, et al. Leptin-replacement therapy for lipodystrophy. N Engl J Med. 2002;346:570–8.
-
(2002)
N Engl J Med
, vol.346
, pp. 570-578
-
-
Oral, E.A.1
Simha, V.2
Ruiz, E.3
-
74
-
-
77956576248
-
Effects of tesamorelin (TH9507), a growth hormone-releasing factor analog, in human immunodeficiency virusinfected patients with excess abdominal fat: A pooled analysis of two multicenter, double-blind placebocontrolled phase 3 trials with safety extension data
-
Falutz J, Mamputu JC, Potvin D, et al. Effects of tesamorelin (TH9507), a growth hormone-releasing factor analog, in human immunodeficiency virusinfected patients with excess abdominal fat: a pooled analysis of two multicenter, double-blind placebocontrolled phase 3 trials with safety extension data. J Clin Endocrinol Metab. 2010;95:4291–304.
-
(2010)
J Clin Endocrinol Metab
, vol.95
, pp. 4291-4304
-
-
Falutz, J.1
Mamputu, J.C.2
Potvin, D.3
-
75
-
-
0034663140
-
Efficacy and safety of troglitazone in the treatment of lipodystrophy syndromes
-
Arioglu E, Duncan-Morin J, Sebring N, et al. Efficacy and safety of troglitazone in the treatment of lipodystrophy syndromes. Ann Intern Med. 2000;133:263–74.
-
(2000)
Ann Intern Med
, vol.133
, pp. 263-274
-
-
Arioglu, E.1
Duncan-Morin, J.2
Sebring, N.3
-
76
-
-
27844530578
-
Long-term treatment experience in a subject with Dunnigan-type familial partial lipodystrophy: Efficacy of rosiglitazone
-
Ludtke A, Heck K, Genschel J, et al. Long-term treatment experience in a subject with Dunnigan-type familial partial lipodystrophy: efficacy of rosiglitazone. Diabet Med. 2005;22:1611–3.
-
(2005)
Diabet Med
, vol.22
, pp. 1611-1613
-
-
Ludtke, A.1
Heck, K.2
Genschel, J.3
-
77
-
-
38449091246
-
Efficacy and safety of pioglitazone in treatment of a patient with an atypical partial lipodystrophy syndrome
-
Sleilati GG, Leff T, Bonnett JW, Hegele RA. Efficacy and safety of pioglitazone in treatment of a patient with an atypical partial lipodystrophy syndrome. Endocr Pract. 2007;13:656–61.
-
(2007)
Endocr Pract
, vol.13
, pp. 656-661
-
-
Sleilati, G.G.1
Leff, T.2
Bonnett, J.W.3
Hegele, R.A.4
-
78
-
-
53249092413
-
Monogenic polycystic ovary syndrome due to a mutation in the lamin A/C gene is sensitive to thiazolidinediones but not to metformin
-
Gambineri A, Semple RK, Forlani G, et al. Monogenic polycystic ovary syndrome due to a mutation in the lamin A/C gene is sensitive to thiazolidinediones but not to metformin. Eur J Endocrinol/Eur Federation Endocr Soc. 2008;159:347–53.
-
(2008)
Eur J Endocrinol/Eur Federation Endocr Soc
, vol.159
, pp. 347-353
-
-
Gambineri, A.1
Semple, R.K.2
Forlani, G.3
-
79
-
-
0642312212
-
Response to treatment with rosiglitazone in familial partial lipodystrophy due to a mutation in the LMNA gene
-
Owen KR, Donohoe M, Ellard S, Hattersley AT. Response to treatment with rosiglitazone in familial partial lipodystrophy due to a mutation in the LMNA gene. Diabet Med. 2003;20:823–7.
-
(2003)
Diabet Med
, vol.20
, pp. 823-827
-
-
Owen, K.R.1
Donohoe, M.2
Ellard, S.3
Hattersley, A.T.4
-
80
-
-
55449132035
-
Prolonged thiazolidinedione therapy does not reverse fat loss in patients with familial partial lipodystrophy, Dunnigan variety. Diabetes
-
Simha V, Rao S, Garg A. Prolonged thiazolidinedione therapy does not reverse fat loss in patients with familial partial lipodystrophy, Dunnigan variety. Diabetes, Obes Metab. 2008; 10:1275–6.
-
(2008)
Obes Metab
, vol.10
, pp. 1275-1276
-
-
Simha, V.1
Rao, S.2
Garg, A.3
-
81
-
-
0344375097
-
Human metabolic syndrome resulting from dominant-negative mutations in the nuclear receptor peroxisome proliferator- activated receptor-g
-
Savage DB, Tan GD, Acerini CL, et al. Human metabolic syndrome resulting from dominant-negative mutations in the nuclear receptor peroxisome proliferator- activated receptor-g. Diabetes. 2003;52:910–7.
-
(2003)
Diabetes
, vol.52
, pp. 910-917
-
-
Savage, D.B.1
Tan, G.D.2
Acerini, C.L.3
-
82
-
-
21344447493
-
Long-term efficacy of leptin replacement in patients with generalized lipodystrophy
-
Javor ED, Cochran EK, Musso C, et al. Long-term efficacy of leptin replacement in patients with generalized lipodystrophy. Diabetes. 2005;54:1994–2002.
-
(2005)
Diabetes
, vol.54
, pp. 1994-2002
-
-
Javor, E.D.1
Cochran, E.K.2
Musso, C.3
-
83
-
-
33846950833
-
Efficacy and safety of leptin-replacement therapy and possible mechanisms of leptin actions in patients with generalized lipodystrophy
-
Ebihara K, Kusakabe T, Hirata M, et al. Efficacy and safety of leptin-replacement therapy and possible mechanisms of leptin actions in patients with generalized lipodystrophy. J Clin Endocrinol Metab. 2007;92:532–41.
-
(2007)
J Clin Endocrinol Metab
, vol.92
, pp. 532-541
-
-
Ebihara, K.1
Kusakabe, T.2
Hirata, M.3
-
84
-
-
33947283865
-
Long-term efficacy of leptin replacement in patients with Dunnigan- type familial partial lipodystrophy
-
Park JY, Javor ED, Cochran EK, et al. Long-term efficacy of leptin replacement in patients with Dunnigan- type familial partial lipodystrophy. Metabolism. 2007;56:508–16.
-
(2007)
Metabolism
, vol.56
, pp. 508-516
-
-
Park, J.Y.1
Javor, E.D.2
Cochran, E.K.3
-
85
-
-
4544286790
-
Effects of exogenous leptin on satiety and satiation in patients with lipodystrophy and leptin insufficiency
-
McDuffie JR, Riggs PA, Calis KA, et al. Effects of exogenous leptin on satiety and satiation in patients with lipodystrophy and leptin insufficiency. J Clin Endocrinol Metab. 2004;89:4258–63.
-
(2004)
J Clin Endocrinol Metab
, vol.89
, pp. 4258-4263
-
-
McDuffie, J.R.1
Riggs, P.A.2
Calis, K.A.3
-
86
-
-
0036114844
-
Leptin reverses insulin resistance and hepatic steatosis in patients with severe lipodystrophy
-
Petersen KF, Oral EA, Dufour S, et al. Leptin reverses insulin resistance and hepatic steatosis in patients with severe lipodystrophy. J Clin Invest. 2002;109:1345–50.
-
(2002)
J Clin Invest
, vol.109
, pp. 1345-1350
-
-
Petersen, K.F.1
Oral, E.A.2
Dufour, S.3
-
87
-
-
0043172530
-
Effect of leptin replacement on intrahepatic and intramyocellular lipid content in patients with generalized lipodystrophy
-
Simha V, Szczepaniak LS, Wagner AJ, et al. Effect of leptin replacement on intrahepatic and intramyocellular lipid content in patients with generalized lipodystrophy. Diabetes Care. 2003;26:30–35.
-
(2003)
Diabetes Care
, vol.26
, pp. 30-35
-
-
Simha, V.1
Szczepaniak, L.S.2
Wagner, A.J.3
-
88
-
-
16244363679
-
Leptin reverses nonalcoholic steatohepatitis in patients with severe lipodystrophy
-
Javor ED, Ghany MG, Cochran EK, et al. Leptin reverses nonalcoholic steatohepatitis in patients with severe lipodystrophy. Hepatology. 2005;41:753–60
-
(2005)
Hepatology
, vol.41
, pp. 753-760
-
-
Javor, E.D.1
Ghany, M.G.2
Cochran, E.K.3
|