Advances in the molecular genetic studies of acephalic spermatozoa syndrome
Acephalic spermatozoa syndrome (ASS) is characterized by a predominance of headless spermatozoa with abnormal head-tail junction in the ejaculate, which causes severe male infertility. The pathogenic mechanism of ASS remained unclarified for a long time until recent identification of the four ASS-associated genes SUN5, PMFBP1, TSGA10, and BRDT and their mutations due to the development of high-throughput sequencing technology. This review summarizes the advances in the genetic studies of ASS, focusing on its pathogenic molecular mechanisms, which provide an important basis for the molecular diagnosis of the disease as well as for assisted reproductive technology.
| Medienart: |
Artikel |
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| Erscheinungsjahr: |
2019 |
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| Erschienen: |
2019 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:25 |
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| Enthalten in: |
Zhonghua nan ke xue = National journal of andrology - 25(2019), 9 vom: 03. Sept., Seite 838-842 |
| Sprache: |
Chinesisch |
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| Beteiligte Personen: |
Li, Lin [VerfasserIn] |
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| Anmerkungen: |
Date Completed 11.05.2020 Date Revised 11.05.2020 published: Print Citation Status MEDLINE |
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| Förderinstitution / Projekttitel: |
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| PPN (Katalog-ID): |
NLM308188020 |
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| 245 | 1 | 0 | |a Advances in the molecular genetic studies of acephalic spermatozoa syndrome |
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| 520 | |a Acephalic spermatozoa syndrome (ASS) is characterized by a predominance of headless spermatozoa with abnormal head-tail junction in the ejaculate, which causes severe male infertility. The pathogenic mechanism of ASS remained unclarified for a long time until recent identification of the four ASS-associated genes SUN5, PMFBP1, TSGA10, and BRDT and their mutations due to the development of high-throughput sequencing technology. This review summarizes the advances in the genetic studies of ASS, focusing on its pathogenic molecular mechanisms, which provide an important basis for the molecular diagnosis of the disease as well as for assisted reproductive technology | ||
| 650 | 4 | |a Journal Article | |
| 650 | 4 | |a Review | |
| 650 | 4 | |a BRDT | |
| 650 | 4 | |a PMFBP1 | |
| 650 | 4 | |a SUN5 | |
| 650 | 4 | |a TSGA10 | |
| 650 | 4 | |a gene mutation | |
| 650 | 4 | |a whole-exome sequencing | |
| 650 | 4 | |a acephalic spermatozoa syndrome | |
| 650 | 7 | |a BRDT protein, human |2 NLM | |
| 650 | 7 | |a Cytoskeletal Proteins |2 NLM | |
| 650 | 7 | |a Membrane Proteins |2 NLM | |
| 650 | 7 | |a Nuclear Proteins |2 NLM | |
| 650 | 7 | |a SUN5 protein, human |2 NLM | |
| 650 | 7 | |a TSGA10 protein, human |2 NLM | |
| 700 | 1 | |a Wang, Jing-Shang |e verfasserin |4 aut | |
| 700 | 1 | |a Yin, Cheng-Hong |e verfasserin |4 aut | |
| 700 | 1 | |a Yue, Wen-Tao |e verfasserin |4 aut | |
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