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Colchicine resistance(CLCS)

MedGen UID:
396151
Concept ID:
C1861502
Disease or Syndrome
Synonyms: COLCHICINE SENSITIVITY
 
Gene (location): ABCB1 (7q21.12)
OMIM®: 120080

Recent clinical studies

Etiology

Eisenstein EM, Berkun Y, Ben-Chetrit E
Clin Exp Rheumatol 2013 May-Jun;31(3 Suppl 77):103-7. Epub 2013 Sep 9 [Epub ahead of print] PMID: 24064023
Hashkes PJ, Spalding SJ, Giannini EH, Huang B, Johnson A, Park G, Barron KS, Weisman MH, Pashinian N, Reiff AO, Samuels J, Wright DA, Kastner DL, Lovell DJ
Ann Intern Med 2012 Oct 16;157(8):533-41. doi: 10.7326/0003-4819-157-8-201210160-00003. PMID: 23070486
Berkun Y, Karban A, Padeh S, Pras E, Shinar Y, Lidar M, Livneh A, Bujanover Y
Semin Arthritis Rheum 2012 Aug;42(1):84-8. Epub 2012 Jan 12 doi: 10.1016/j.semarthrit.2011.12.002. [Epub ahead of print] PMID: 22244368
Ozen F, Silan C, Uludag A, Candan F, Silan F, Ozdemir S, Atik S, Ozdemir O
Ren Fail 2011;33(9):899-903. Epub 2011 Aug 18 doi: 10.3109/0886022X.2011.605980. [Epub ahead of print] PMID: 21851199
Tufan A, Babaoglu MO, Akdogan A, Yasar U, Calguneri M, Kalyoncu U, Karadag O, Hayran M, Ertenli AI, Bozkurt A, Kiraz S
J Rheumatol 2007 Jul;34(7):1540-4. Epub 2007 Jun 15 [Epub ahead of print] PMID: 17610314

Diagnosis

Eisenstein EM, Berkun Y, Ben-Chetrit E
Clin Exp Rheumatol 2013 May-Jun;31(3 Suppl 77):103-7. Epub 2013 Sep 9 [Epub ahead of print] PMID: 24064023
La Regina M, Ben-Chetrit E, Gasparyan AY, Livneh A, Ozdogan H, Manna R
Clin Exp Rheumatol 2013 May-Jun;31(3 Suppl 77):41-6. Epub 2013 Sep 9 [Epub ahead of print] PMID: 24064013
Aldea A, Campistol JM, Arostegui JI, Rius J, Maso M, Vives J, Yagüe J
Am J Med Genet A 2004 Jan 1;124A(1):67-73. doi: 10.1002/ajmg.a.20296. PMID: 14679589
Druley TE, Stein WD, Ruth A, Roninson IB
Biochemistry 2001 Apr 10;40(14):4323-31. PMID: 11284688
Chamla Y, Bégueret J
Hum Genet 1982;61(1):73-5. PMID: 7129432

Therapy

Ben-Zvi I, Livneh A
Isr Med Assoc J 2014 May;16(5):271-3. PMID: 24979828
La Regina M, Ben-Chetrit E, Gasparyan AY, Livneh A, Ozdogan H, Manna R
Clin Exp Rheumatol 2013 May-Jun;31(3 Suppl 77):41-6. Epub 2013 Sep 9 [Epub ahead of print] PMID: 24064013
Hentgen V, Grateau G, Kone-Paut I, Livneh A, Padeh S, Rozenbaum M, Amselem S, Gershoni-Baruch R, Touitou I, Ben-Chetrit E
Semin Arthritis Rheum 2013 Dec;43(3):387-91. Epub 2013 Jun 3 doi: 10.1016/j.semarthrit.2013.04.011. [Epub ahead of print] PMID: 23742958
Soriano A, Verecchia E, Afeltra A, Landolfi R, Manna R
Clin Rev Allergy Immunol 2013 Aug;45(1):117-30. doi: 10.1007/s12016-013-8358-y. PMID: 23322405
Aldea A, Campistol JM, Arostegui JI, Rius J, Maso M, Vives J, Yagüe J
Am J Med Genet A 2004 Jan 1;124A(1):67-73. doi: 10.1002/ajmg.a.20296. PMID: 14679589

Prognosis

Eisenstein EM, Berkun Y, Ben-Chetrit E
Clin Exp Rheumatol 2013 May-Jun;31(3 Suppl 77):103-7. Epub 2013 Sep 9 [Epub ahead of print] PMID: 24064023
La Regina M, Ben-Chetrit E, Gasparyan AY, Livneh A, Ozdogan H, Manna R
Clin Exp Rheumatol 2013 May-Jun;31(3 Suppl 77):41-6. Epub 2013 Sep 9 [Epub ahead of print] PMID: 24064013
Hashkes PJ, Spalding SJ, Giannini EH, Huang B, Johnson A, Park G, Barron KS, Weisman MH, Pashinian N, Reiff AO, Samuels J, Wright DA, Kastner DL, Lovell DJ
Ann Intern Med 2012 Oct 16;157(8):533-41. doi: 10.7326/0003-4819-157-8-201210160-00003. PMID: 23070486
Berkun Y, Karban A, Padeh S, Pras E, Shinar Y, Lidar M, Livneh A, Bujanover Y
Semin Arthritis Rheum 2012 Aug;42(1):84-8. Epub 2012 Jan 12 doi: 10.1016/j.semarthrit.2011.12.002. [Epub ahead of print] PMID: 22244368
Aldea A, Campistol JM, Arostegui JI, Rius J, Maso M, Vives J, Yagüe J
Am J Med Genet A 2004 Jan 1;124A(1):67-73. doi: 10.1002/ajmg.a.20296. PMID: 14679589

Clinical prediction guides

Eisenstein EM, Berkun Y, Ben-Chetrit E
Clin Exp Rheumatol 2013 May-Jun;31(3 Suppl 77):103-7. Epub 2013 Sep 9 [Epub ahead of print] PMID: 24064023
La Regina M, Ben-Chetrit E, Gasparyan AY, Livneh A, Ozdogan H, Manna R
Clin Exp Rheumatol 2013 May-Jun;31(3 Suppl 77):41-6. Epub 2013 Sep 9 [Epub ahead of print] PMID: 24064013
Wu CT, Budding M, Griffin MS, Croop JM
Mol Cell Biol 1991 Aug;11(8):3940-8. PMID: 2072901Free PMC Article
Akiyama S, Fojo A, Hanover JA, Pastan I, Gottesman MM
Somat Cell Mol Genet 1985 Mar;11(2):117-26. PMID: 3856953
Chamla Y, Bégueret J
Hum Genet 1982;61(1):73-5. PMID: 7129432

Recent systematic reviews

Eisenstein EM, Berkun Y, Ben-Chetrit E
Clin Exp Rheumatol 2013 May-Jun;31(3 Suppl 77):103-7. Epub 2013 Sep 9 [Epub ahead of print] PMID: 24064023
Hentgen V, Grateau G, Kone-Paut I, Livneh A, Padeh S, Rozenbaum M, Amselem S, Gershoni-Baruch R, Touitou I, Ben-Chetrit E
Semin Arthritis Rheum 2013 Dec;43(3):387-91. Epub 2013 Jun 3 doi: 10.1016/j.semarthrit.2013.04.011. [Epub ahead of print] PMID: 23742958
Soriano A, Verecchia E, Afeltra A, Landolfi R, Manna R
Clin Rev Allergy Immunol 2013 Aug;45(1):117-30. doi: 10.1007/s12016-013-8358-y. PMID: 23322405

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