Structural abnormalities in the G-CSF receptor in severe congenital neutropenia.
Structural abnormalities in the G-CSF receptor in severe congenital neutropenia.
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严重先天性中性粒细胞减少症中 G-CSF 受体的结构异常。
DOI：
10.1089/152581699320171
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发表时间：
1999
期刊：
影响因子：
--
通讯作者：
Moore,MA
中科院分区：
文献类型：
--
作者：
Deshpande,RV;Lalezari,P;Pergolizzi,RG;Moore,MA
Structural abnormalities in the cytoplasmic region of the G-CSF receptor (G-CSF-R) or defects in signal transduction pathways triggered by the G-CSF-R or both have been implicated in the development of neutropenia and increased prediposition to leukemia in patients with severe congenital neutropenia (SCN). To assess the structural integrity of the G-CSF-R in SCN patients, the transmembrane and cytoplasmic regions of the G-CSF-R from 5 SCN patients were cloned and sequenced. DNA mutations (point, deletion, frame-shift, and silent) were observed in 3 patients. In 2 of these, the DNA mutations resulted in altered G-CSF-R protein sequences, including additions of novel C-terminal sequences. Three of the 5 mutant receptor clones lacked 115-121 amino acids in the cytoplasmic region, and 2 showed complete loss of the transmembrane and cytoplasmic regions. Neutrophils from 1 patient expressing these mutant receptors showed normal binding of radiolabeled G-CSF. G-CSF-R in 2 other patients with SCN showed no mutations. Our results indicate that structural abnormalities in the G-CSF-R may be present in some SCN patients. They may not affect the binding of G-CSF to the receptor but may contribute to the pathogenesis of SCN through impaired signal transduction pathways of the mutant G-CSF-R.
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DOI：
--
发表时间：
1992
期刊：
影响因子：
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作者：
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DOI：
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期刊：
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影响因子：
20.3
作者：
Vadhan-Raj,S;Jeha,SS;Buescher,S;LeMaistre,A;Yee,G;Lu,L;Lloreta,J;Hoots,WK;Hittelman,WN;Gutterman,JU
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DOI：
10.1111/j.1651-2227.1975.tb03847.x
发表时间：
1975
期刊：
Acta Pædiatrica
影响因子：
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作者：
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