Search for mutations involved in human globozoospermia*
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چکیده
منابع مشابه
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15 صفحه اولUltrastructural Morphology of Sperm from Human Globozoospermia
Globozoospermia is a rare disorder characterized by the presence of sperm with round head, lacking acrosome. Coiling tail around the nucleus has been reported since early human studies, but no specific significance has conferred it. By contrast, studies on animal models suggest that coiling tail around the nucleus could represent a crucial step of defective spermatogenesis, resulting in round-h...
متن کاملDPY19L2 gene mutations are a major cause of globozoospermia: identification of three novel point mutations.
Globozoospermia, characterized by round-headed spermatozoa without acrosomes, is a rare and severe teratozoospermia causing primary male infertility. Homozygous DPY19L2 deletions have been identified as the main cause of globozoospermia, blocking sperm head elongation and acrosome formation. Several previous studies showed a very different prevalence of DPY19L2 gene deletions among globozoosper...
متن کاملMLPA and sequence analysis of DPY19L2 reveals point mutations causing globozoospermia.
STUDY QUESTION Do DPY19L2 heterozygous deletions and point mutations account for some cases of globozoospermia? SUMMARY ANSWER Two DPY19L2 heterozygous deletions and three point mutations were identified, thus further confirming that genetic alterations of the DPY19L2 gene are the main cause of globozoospermia and indicating that DPY19L2 molecular diagnostics should not be stopped in the abse...
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Drug resistance (especially multiple drug resistance) in Mycobacterium tuberculosis makes global concerns in treatment and control of tuberculosis. Rapid diagnosis of drug resistant strains of the bacteria has vital importance in the prognosis of the disease. The aim of this study was to identify the mutations responsible for drug resistance in Mycobacterium tuberculosis strains derived from pa...
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ژورنال
عنوان ژورنال: Human Reproduction
سال: 2005
ISSN: 1460-2350,0268-1161
DOI: 10.1093/humrep/deh799