INT78203
From wiki-pain
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Sentences Mentioned In
Key: | Protein | Mutation | Event | Anatomy | Negation | Speculation | Pain term | Disease term |
PMP22 cDNA produced by the reverse transcriptase-polymerase chain reaction from rat sciatic nerve was expressed in Escherichia coli as a fusion protein with glutathione-S-transferase (GST). | |||||||||||||||
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PMP22 cDNA produced by the reverse transcriptase-polymerase chain reaction from rat sciatic nerve was expressed in Escherichia coli as a fusion protein with glutathione-S-transferase (GST). | |||||||||||||||
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Indeed, the first clinical signs of CMT1A were present in this patient. | |||||||||||||||
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2.9 Mb in size and included the PMP22 gene known to cause CMT1A disease with dosage-specific overexpression of PMP22 (Patel et al. 1992). | |||||||||||||||
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2.9 Mb in size and included the PMP22 gene known to cause CMT1A disease with dosage-specific overexpression of PMP22 (Patel et al. 1992). | |||||||||||||||
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Expression analysis of PMP22/Gas3 in premalignant and malignant pancreatic lesions. | |||||||||||||||
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The scenarios involve glutathione-S-transferase theta 1 (GSTT1) and hematopoietic cancer in hospital workers, human leukocyte antigen coding for glutamic acid in the 69th position (HLA DPB1(E69)) and chronic beryllium disease in beryllium workers, and peripheral myelin protein 22 (PMP22) deletion and carpal tunnel syndrome in railroad track workers. | |||||||||||||||
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This resulted in the insertion of the MDLS region into the middle SMS-REP/LCR17pB block, loss of the subtelomeric region 17p13.3, and part of 17p12, and duplication of the CMT1A and SMS regions. | |||||||||||||||
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GABA-A involvement in the expression of PMP22 is confirmed by the finding that in cultured rat Schwann cells a specific GABA antagonist such as bicuculline completely abolishes the stimulatory effect exerted by 5? | |||||||||||||||
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Genetic studies including SCA 1, 2, 3, 6, DRPLA, CMT1A, CMTX 1 were all negative. | |||||||||||||||
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Indeed aging nervous system, that is associated with a reduction in the synthesis of P0 and PMP22, appears to remain sensitive to some of progesterone's beneficial effects [34,35]. | |||||||||||||||
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Progesterone modulate the expression of key transcription factors for Schwann cell function, regulate Schwann cell proliferation and promote the expression of myelin proteins involved in the maintenance of myelin multilamellar structure, such as myelin protein zero and peripheral myelin protein 22. | |||||||||||||||
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An apparent underestimation of the full complexity of CCRs is well demonstrated in patient 1, in whom a complex karyotype was identified, including an inverted insertion of the MDLS region into the middle SMS-REP/LCR17pB block, two microdeletions (terminal and interstitial in 17p12) and a microduplication involving both SMS and CMT1A chromosome regions. | |||||||||||||||
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However both GABAA and GABAB receptors have been immunohistochemically identified in cultured Schwann cells from rat [30] and segments of rat sciatic nerve [31] and their activation by GABA agonists has been suggested to influence the expression of myelin proteins P0 and PMP22 [30]. | |||||||||||||||
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