Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 88

1.

PSMB8 encoding the β5i proteasome subunit is mutated in joint contractures, muscle atrophy, microcytic anemia, and panniculitis-induced lipodystrophy syndrome.

Agarwal AK, Xing C, DeMartino GN, Mizrachi D, Hernandez MD, Sousa AB, Martínez de Villarreal L, dos Santos HG, Garg A.

Am J Hum Genet. 2010 Dec 10;87(6):866-72. doi: 10.1016/j.ajhg.2010.10.031.

2.

An autosomal recessive syndrome of joint contractures, muscular atrophy, microcytic anemia, and panniculitis-associated lipodystrophy.

Garg A, Hernandez MD, Sousa AB, Subramanyam L, Martínez de Villarreal L, dos Santos HG, Barboza O.

J Clin Endocrinol Metab. 2010 Sep;95(9):E58-63. doi: 10.1210/jc.2010-0488. Epub 2010 Jun 9.

3.

Proteasome-associated autoinflammatory syndromes: advances in pathogeneses, clinical presentations, diagnosis, and management.

McDermott A, Jacks J, Kessler M, Emanuel PD, Gao L.

Int J Dermatol. 2015 Feb;54(2):121-9. doi: 10.1111/ijd.12695. Epub 2014 Dec 18. Review.

PMID:
25521013
4.

Mutations in proteasome subunit β type 8 cause chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature with evidence of genetic and phenotypic heterogeneity.

Liu Y, Ramot Y, Torrelo A, Paller AS, Si N, Babay S, Kim PW, Sheikh A, Lee CC, Chen Y, Vera A, Zhang X, Goldbach-Mansky R, Zlotogorski A.

Arthritis Rheum. 2012 Mar;64(3):895-907. doi: 10.1002/art.33368.

5.

Proteasome assembly defect due to a proteasome subunit beta type 8 (PSMB8) mutation causes the autoinflammatory disorder, Nakajo-Nishimura syndrome.

Arima K, Kinoshita A, Mishima H, Kanazawa N, Kaneko T, Mizushima T, Ichinose K, Nakamura H, Tsujino A, Kawakami A, Matsunaka M, Kasagi S, Kawano S, Kumagai S, Ohmura K, Mimori T, Hirano M, Ueno S, Tanaka K, Tanaka M, Toyoshima I, Sugino H, Yamakawa A, Tanaka K, Niikawa N, Furukawa F, Murata S, Eguchi K, Ida H, Yoshiura K.

Proc Natl Acad Sci U S A. 2011 Sep 6;108(36):14914-9. doi: 10.1073/pnas.1106015108. Epub 2011 Aug 18.

6.

A mutation in the immunoproteasome subunit PSMB8 causes autoinflammation and lipodystrophy in humans.

Kitamura A, Maekawa Y, Uehara H, Izumi K, Kawachi I, Nishizawa M, Toyoshima Y, Takahashi H, Standley DM, Tanaka K, Hamazaki J, Murata S, Obara K, Toyoshima I, Yasutomo K.

J Clin Invest. 2011 Oct;121(10):4150-60. doi: 10.1172/JCI58414. Epub 2011 Sep 1.

7.

Additive loss-of-function proteasome subunit mutations in CANDLE/PRAAS patients promote type I IFN production.

Brehm A, Liu Y, Sheikh A, Marrero B, Omoyinmi E, Zhou Q, Montealegre G, Biancotto A, Reinhardt A, Almeida de Jesus A, Pelletier M, Tsai WL, Remmers EF, Kardava L, Hill S, Kim H, Lachmann HJ, Megarbane A, Chae JJ, Brady J, Castillo RD, Brown D, Casano AV, Gao L, Chapelle D, Huang Y, Stone D, Chen Y, Sotzny F, Lee CC, Kastner DL, Torrelo A, Zlotogorski A, Moir S, Gadina M, McCoy P, Wesley R, Rother KI, Hildebrand PW, Brogan P, Krüger E, Aksentijevich I, Goldbach-Mansky R.

J Clin Invest. 2015 Nov 2;125(11):4196-211. doi: 10.1172/JCI81260. Epub 2015 Oct 20. Erratum in: J Clin Invest. 2016 Feb;126(2):795. Rother, Kristina [corrected to Rother, Kristina I].

8.

Nakajo-Nishimura syndrome: an autoinflammatory disorder showing pernio-like rashes and progressive partial lipodystrophy.

Kanazawa N.

Allergol Int. 2012 Jun;61(2):197-206. doi: 10.2332/allergolint.11-RAI-0416. Epub 2012 Mar 25. Review.

9.

Dysfunctional immunoproteasomes in autoinflammatory diseases.

Arimochi H, Sasaki Y, Kitamura A, Yasutomo K.

Inflamm Regen. 2016 May 28;36:13. doi: 10.1186/s41232-016-0011-8. eCollection 2016. Review.

10.

Transspecies dimorphic allelic lineages of the proteasome subunit beta-type 8 gene (PSMB8) in the teleost genus Oryzias.

Miura F, Tsukamoto K, Mehta RB, Naruse K, Magtoon W, Nonaka M.

Proc Natl Acad Sci U S A. 2010 Dec 14;107(50):21599-604. doi: 10.1073/pnas.1012881107. Epub 2010 Nov 23.

11.

Hereditary lipo-muscular atrophy with joint contracture, skin eruptions and hyper-gamma-globulinemia: a new syndrome.

Tanaka M, Miyatani N, Yamada S, Miyashita K, Toyoshima I, Sakuma K, Tanaka K, Yuasa T, Miyatake T, Tsubaki T.

Intern Med. 1993 Jan;32(1):42-5. Review.

12.

CANDLE syndrome: chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature-a rare case with a novel mutation.

Cavalcante MP, Brunelli JB, Miranda CC, Novak GV, Malle L, Aikawa NE, Jesus AA, Silva CA.

Eur J Pediatr. 2016 May;175(5):735-40. doi: 10.1007/s00431-015-2668-4. Epub 2015 Nov 14.

PMID:
26567544
13.
14.

A case of proteasome-associated auto-inflammatory syndrome with compound heterozygous mutations.

McDermott A, Jesus AA, Liu Y, Kim P, Jacks J, Montealegre Sanchez GA, Chen Y, Kannan A, Schnebelen A, Emanuel PD, Shalin S, Hiatt K, Goldbach-Mansky R, Gao L.

J Am Acad Dermatol. 2013 Jul;69(1):e29-32. doi: 10.1016/j.jaad.2013.01.015. No abstract available.

15.

A new infant case of Nakajo-Nishimura syndrome with a genetic mutation in the immunoproteasome subunit: an overlapping entity with JMP and CANDLE syndrome related to PSMB8 mutations.

Kunimoto K, Kimura A, Uede K, Okuda M, Aoyagi N, Furukawa F, Kanazawa N.

Dermatology. 2013;227(1):26-30. doi: 10.1159/000351323. Epub 2013 Aug 8.

PMID:
23942189
16.

Dichotomous haplotypic lineages of the immunoproteasome subunit genes, PSMB8 and PSMB10, in the MHC class I region of a Teleost Medaka, Oryzias latipes.

Tsukamoto K, Sakaizumi M, Hata M, Sawara Y, Eah J, Kim CB, Nonaka M.

Mol Biol Evol. 2009 Apr;26(4):769-81. doi: 10.1093/molbev/msn305. Epub 2009 Jan 6.

PMID:
19126869
17.

[Nakajo-Nishimura syndrome].

Kanazawa N, Arima K, Ida H, Yoshiura K, Furukawa F.

Nihon Rinsho Meneki Gakkai Kaishi. 2011;34(5):388-400. Review. Japanese.

18.

CANDLE syndrome: a recently described autoinflammatory syndrome.

Tüfekçi Ö, Bengoa Ş, Karapinar TH, Ataseven EB, İrken G, Ören H.

J Pediatr Hematol Oncol. 2015 May;37(4):296-9. doi: 10.1097/MPH.0000000000000212.

PMID:
25036278
19.

Dimorphisms of the proteasome subunit beta type 8 gene (PSMB8) of ectothermic tetrapods originated in multiple independent evolutionary events.

Huang CH, Tanaka Y, Fujito NT, Nonaka M.

Immunogenetics. 2013 Nov;65(11):811-21. doi: 10.1007/s00251-013-0729-2. Epub 2013 Aug 28.

PMID:
23982299
20.

Interferon-γ-induced upregulation of immunoproteasome subunit assembly overcomes bortezomib resistance in human hematological cell lines.

Niewerth D, Kaspers GJ, Assaraf YG, van Meerloo J, Kirk CJ, Anderl J, Blank JL, van de Ven PM, Zweegman S, Jansen G, Cloos J.

J Hematol Oncol. 2014 Jan 13;7:7. doi: 10.1186/1756-8722-7-7.

Supplemental Content

Support Center