Kartagener's syndrome. A blinded, controlled study of cilia ultrastructure.
Kartagener's syndrome. A blinded, controlled study of cilia ultrastructure.
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卡塔格纳综合症。
DOI：
10.1001/archotol.1986.03780060058008
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发表时间：
1986
期刊：
影响因子：
--
通讯作者：
M. Strome
中科院分区：
文献类型：
--
作者：
R. Eavey;J. Nadol;L. Holmes;N. Laird;A. Lapey;M. Joseph;M. Strome
我们研究了Kartagener综合征（KS）基因纯合子患者和有支气管扩张和鼻窦炎但无逆位的KS表型患者的呼吸道粘膜纤毛超微结构。父母，作为专性载体的隐性KS基因，也评价了其他对照组。与正常人或KS患者的父母相比，四名KS患者的纤毛外动力蛋白臂显着减少。两个明显的KS表型的5例患者表现出独特的超微结构变化。没有其他受试者表现出明确的超微结构异常。内部对照样本显示，与受试者之间的变化相比，受试者内的外部动力蛋白臂的数量是一致的。外动力蛋白臂作为一个可靠的超微结构标记。KS携带者没有表现出明显的纤毛形态异常。并非所有慢性支气管扩张和鼻窦炎患者都表现出纤毛超微结构异常。
We investigated respiratory mucosa cilia ultrastructure in patients homozygous for the gene for Kartagener's syndrome (KS) and patients apparently phenotypic for KS who had bronchiectasis and sinusitis but without situs inversus. Parents, as obligate carriers of the recessive KS gene, were also evaluated among other control groups. The four patients with KS had significantly fewer cilia outer dynein arms than normal subjects or parents of patients with KS. Two of five patients apparently phenotypic for KS demonstrated distinctive ultrastructural changes. No other subjects demonstrated explicit ultrastructural abnormalities. Internal control specimens showed that the number of outer dynein arms was consistent within a subject compared with variation between subjects. The outer dynein arm serves as a dependable ultrastructural marker. Carriers of KS do not demonstrate distinctive morphologic cilia abnormalities. Not every patient with chronic bronchiectasis and sinusitis demonstrates abnormal cilia ultrastructure.
人类不动纤毛综合征中纤毛形态的异质性。
DOI：
10.1016/0022-5320(80)90114-8
发表时间：
1980
期刊：
Journal of ultrastructure research
影响因子：
--
作者：
Schneeberger,EE;McCormack,J;Issenberg,HJ;Schuster,SR;Gerald,PS
通讯作者：
Gerald,PS