-
1
-
-
80455153667
-
-
Japanese sources
-
Japanese sources
-
-
-
-
2
-
-
80455155410
-
-
Japanese sources
-
Japanese sources
-
-
-
-
3
-
-
80455133874
-
-
Japanese sources
-
Japanese sources
-
-
-
-
4
-
-
80455160702
-
-
Japanese sources
-
Japanese sources
-
-
-
-
5
-
-
80455153660
-
-
Japanese sources
-
Japanese sources
-
-
-
-
6
-
-
80455153661
-
-
Japanese sources
-
Japanese sources
-
-
-
-
7
-
-
80455155408
-
-
Japanese sources
-
Japanese sources
-
-
-
-
8
-
-
80455153666
-
-
Japanese sources
-
Japanese sources
-
-
-
-
9
-
-
84943211442
-
A syndrome with nodular erythema, elongated and thickened fingers and emaciation
-
Kitano, Y., et al.: A syndrome with nodular erythema, elongated and thickened fingers and emaciation. Arch Dermatol. 121: 1053-1056, 1985.
-
(1985)
Arch Dermatol
, vol.121
, pp. 1053-1056
-
-
Kitano, Y.1
-
10
-
-
80455160700
-
-
Japanese sources
-
Japanese sources
-
-
-
-
11
-
-
80455153665
-
-
Japanese sources
-
Japanese sources
-
-
-
-
12
-
-
80455133877
-
-
Japanese sources
-
Japanese sources
-
-
-
-
13
-
-
80455160701
-
-
Japanese sources
-
Japanese sources
-
-
-
-
14
-
-
80455160697
-
-
Japanese sources
-
Japanese sources
-
-
-
-
15
-
-
80455133873
-
-
Japanese sources
-
Japanese sources
-
-
-
-
16
-
-
80455133876
-
-
Japanese sources
-
Japanese sources
-
-
-
-
17
-
-
0027354738
-
Hereditary lipo-muscular atrophy with joint contracture, skin eruptions and hyper-γ-globulinemia: A new syndrome
-
Tanaka, M., et al.: Hereditary lipo-muscular atrophy with joint contracture, skin eruptions and hyper-γ-globulinemia: a new syndrome. Intern Med. 32: 42-45, 1993.
-
(1993)
Intern Med
, vol.32
, pp. 42-45
-
-
Tanaka, M.1
-
18
-
-
80455133870
-
-
Japanese sources
-
Japanese sources
-
-
-
-
19
-
-
80455133871
-
-
Japanese sources
-
Japanese sources
-
-
-
-
20
-
-
80455133872
-
-
Japanese sources
-
Japanese sources
-
-
-
-
21
-
-
41849126317
-
A case of periodic-fever-syndrome-like disorder with lipodystrophy, myositis, and autoimmune abnormalities
-
Kasagi, S., et al.: A case of periodic-fever-syndrome-like disorder with lipodystrophy, myositis, and autoimmune abnormalities. Mod Rheumatol. 18: 203-207, 2008.
-
(2008)
Mod Rheumatol
, vol.18
, pp. 203-207
-
-
Kasagi, S.1
-
22
-
-
80455153664
-
-
Japanese sources
-
Japanese sources
-
-
-
-
23
-
-
80455160698
-
-
Japanese sources
-
Japanese sources
-
-
-
-
24
-
-
80052565561
-
Assembly defect due to a PSMB8 mutation reduces proteasome activity and causes the autoinflammatory disorder, Nakajo-Nishimura syndrome
-
Arima, K., et al.: Assembly defect due to a PSMB8 mutation reduces proteasome activity and causes the autoinflammatory disorder, Nakajo-Nishimura syndrome. Proc Natl Acad Sci USA. 108: 14914-9, 2011.
-
(2011)
Proc Natl Acad Sci USA
, vol.108
, pp. 14914-14919
-
-
Arima, K.1
-
25
-
-
80053397654
-
A mutation in the immunoproteasome subunit PSMB8 causes autoinflammation and lipodaystrophy in humans
-
Kitamura, A., et al: A mutation in the immunoproteasome subunit PSMB8 causes autoinflammation and lipodaystrophy in humans. J Clin Invest. 121: 4150-60, 2011.
-
(2011)
J Clin Invest
, vol.121
, pp. 4150-4160
-
-
Kitamura, A.1
-
26
-
-
76249121423
-
Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome
-
Torrelo, A., et al.: Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome. J Am Acad Dermatol. 62: 489-495, 2010.
-
(2010)
J Am Acad Dermatol
, vol.62
, pp. 489-495
-
-
Torrelo, A.1
-
27
-
-
80052836194
-
Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome: A case report
-
in press
-
Ramot, Y., et al.: Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome: a case report. Pediatr Dermatol. in press.
-
Pediatr Dermatol
-
-
Ramot, Y.1
-
28
-
-
77956579857
-
An autosomal recessive syndrome of joint contractures, muscular atrophy, microcytic anemia, and panniculitis-associated lipodystrophy
-
Garg, A., et al.: An autosomal recessive syndrome of joint contractures, muscular atrophy, microcytic anemia, and panniculitis-associated lipodystrophy. J Clin Endocrinol Metab. 95: E58-63, 2010.
-
(2010)
J Clin Endocrinol Metab
, vol.95
-
-
Garg, A.1
-
29
-
-
78649775528
-
PSMB8 encoding the β5i proteasome subunit is mutated in joint contractures, muscular atrophy, microcytic anemia, and panniculitis-induced lipodystrophy syndrome
-
Agarwal, A. K., et al.: PSMB8 encoding the β5i proteasome subunit is mutated in joint contractures, muscular atrophy, microcytic anemia, and panniculitis-induced lipodystrophy syndrome. Am J Hum Genet. 87: 866-872, 2010.
-
(2010)
Am J Hum Genet
, vol.87
, pp. 866-872
-
-
Agarwal, A.K.1
-
30
-
-
80455160695
-
-
Japanese sources
-
Japanese sources
-
-
-
-
31
-
-
80455160694
-
-
Japanese sources
-
Japanese sources
-
-
-
-
32
-
-
77950400643
-
Aicardi-Goutieres syndrome and related phenotypes: Linking nucleic acid metabolism with autoimmunity
-
Crow, Y. J., et al.: Aicardi-Goutieres syndrome and related phenotypes: linking nucleic acid metabolism with autoimmunity. Hum Mol Genet. 18: R130-R136, 2009.
-
(2009)
Hum Mol Genet
, vol.18
-
-
Crow, Y.J.1
-
33
-
-
79952185204
-
Lipodystrophy: Pathophysiology and advances in treatment
-
Fiorenza, C. G., et al.: Lipodystrophy: pathophysiology and advances in treatment Nat Rev Endocrinol. 7: 137-150, 2011.
-
(2011)
Nat Rev Endocrinol
, vol.7
, pp. 137-150
-
-
Fiorenza, C.G.1
-
34
-
-
80455133868
-
-
Japanese sources
-
Japanese sources
-
-
-
-
35
-
-
0023266155
-
An autopsy case of a syndrome with muscular atrophy, decreased subcutaneous fat, skin eruption and hyper?-globulinemia: Peculiar vascular changes and muscle fiber degeneration
-
Oyanagi, K., et al: An autopsy case of a syndrome with muscular atrophy, decreased subcutaneous fat, skin eruption and hyper?-globulinemia: peculiar vascular changes and muscle fiber degeneration. Acta Neuropathol. 73: 313-319, 1987.
-
(1987)
Acta Neuropathol
, vol.73
, pp. 313-319
-
-
Oyanagi, K.1
-
36
-
-
80455153662
-
-
Japanese sources
-
Japanese sources
-
-
-
-
37
-
-
80455153663
-
-
Japanese sources
-
Japanese sources
-
-
-
-
38
-
-
1542642958
-
Clinical features and metabolic and autoimmune derangements in acquired partial lipodystrophy: Report of 35 cases and review of the literature
-
Misra, A., et al.: Clinical features and metabolic and autoimmune derangements in acquired partial lipodystrophy: report of 35 cases and review of the literature. Medicine. 83: 18-34, 2004.
-
(2004)
Medicine
, vol.83
, pp. 18-34
-
-
Misra, A.1
-
39
-
-
4344639904
-
Small vessel vasculitis and relapsing panniculitis in tumour necrosis factor receptor associated periodic syndrome (TRAPS)
-
Lamprecht, P., et al.: Small vessel vasculitis and relapsing panniculitis in tumour necrosis factor receptor associated periodic syndrome (TRAPS). Ann Rheum Dis. 63: 1518-1520, 2004.
-
(2004)
Ann Rheum Dis
, vol.63
, pp. 1518-1520
-
-
Lamprecht, P.1
-
40
-
-
84856158216
-
Mutations in PSMB8 cause CANDLE syndrome with evidence of genetic and phenotypic heterogeneity
-
in press
-
Liu, Y., et al.: Mutations in PSMB8 cause CANDLE syndrome with evidence of genetic and phenotypic heterogeneity. Arthritis Rheum. in press.
-
Arthritis Rheum
-
-
Liu, Y.1
-
41
-
-
59249084491
-
The proteasome: Overview of structure and functions
-
Tanaka, K.: The proteasome: Overview of structure and functions. Proc Jpn Acad Ser B Phys Biol Sci. 85: 12-36, 2009.
-
(2009)
Proc Jpn Acad Ser B Phys Biol Sci
, vol.85
, pp. 12-36
-
-
Tanaka, K.1
-
42
-
-
0027991677
-
MHC class I expression in mice lacking the proteasome subunit LMP-7
-
Fehling, H. J., et al.: MHC class I expression in mice lacking the proteasome subunit LMP-7. Science. 265: 1234-1237, 1994.
-
(1994)
Science
, vol.265
, pp. 1234-1237
-
-
Fehling, H.J.1
-
43
-
-
79952184583
-
Mitochondrial reactive oxygen species promote production of proinflammatory cytokines and are elevated in TNFR1-associated periodic syndrome (TRAPS)
-
Bulua, A. C., et al.: Mitochondrial reactive oxygen species promote production of proinflammatory cytokines and are elevated in TNFR1-associated periodic syndrome (TRAPS). J Exp Med. 208: 519-533, 2011.
-
(2011)
J Exp Med
, vol.208
, pp. 519-533
-
-
Bulua, A.C.1
-
44
-
-
67650388103
-
A selective inhibitor of the immunoproteasome subunit LMP7 blocks cytokine production and attenuates progression of experimental arthritis
-
Muchamuel, T., et al.: A selective inhibitor of the immunoproteasome subunit LMP7 blocks cytokine production and attenuates progression of experimental arthritis. Nat Med. 15: 781-787, 2009.
-
(2009)
Nat Med
, vol.15
, pp. 781-787
-
-
Muchamuel, T.1
|