http://purl.uniprot.org/citations/31463947 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
http://purl.uniprot.org/citations/31463947 | http://www.w3.org/2000/01/rdf-schema#comment | "Total fertilization failure (TFF), which is the failure of fertilization in all oocytes, occurs in 1%-3% of intracytoplasmic sperm injection (ICSI) cycles. However, the sperm-related factors that cause fertilization failure in humans are still largely unknown. Here, we identified three novel homozygous variations in the PLCZ1 gene in a recessive inheritance pattern in three consanguineous families, which all located in a key catalytic domain, and predicted to modify its secondary structure and thus impair its hydrolytic activity. Moreover, immunofluorescent staining revealed that PLCζ in mutant sperm exhibited abnormal localization patterns. ICSI-AOA resulted in an increased rate of normal fertilization compared with previous ICSI cycles (75.0% vs 2.2%, P < .001). In summary, we identified three novel homozygous variations in PLCZ1 that led to poor or failed fertilization that could be overcame by ICSI-AOA."xsd:string |
http://purl.uniprot.org/citations/31463947 | http://purl.org/dc/terms/identifier | "doi:10.1111/cge.13636"xsd:string |
http://purl.uniprot.org/citations/31463947 | http://purl.uniprot.org/core/author | "Gong F."xsd:string |
http://purl.uniprot.org/citations/31463947 | http://purl.uniprot.org/core/author | "Guo J."xsd:string |
http://purl.uniprot.org/citations/31463947 | http://purl.uniprot.org/core/author | "Li Y."xsd:string |
http://purl.uniprot.org/citations/31463947 | http://purl.uniprot.org/core/author | "Lu C."xsd:string |
http://purl.uniprot.org/citations/31463947 | http://purl.uniprot.org/core/author | "Lu G."xsd:string |
http://purl.uniprot.org/citations/31463947 | http://purl.uniprot.org/core/author | "Zhang T."xsd:string |
http://purl.uniprot.org/citations/31463947 | http://purl.uniprot.org/core/author | "Zheng W."xsd:string |
http://purl.uniprot.org/citations/31463947 | http://purl.uniprot.org/core/author | "Dai J."xsd:string |
http://purl.uniprot.org/citations/31463947 | http://purl.uniprot.org/core/author | "Lin G."xsd:string |
http://purl.uniprot.org/citations/31463947 | http://purl.uniprot.org/core/author | "Dai C."xsd:string |
http://purl.uniprot.org/citations/31463947 | http://purl.uniprot.org/core/date | "2020"xsd:gYear |
http://purl.uniprot.org/citations/31463947 | http://purl.uniprot.org/core/name | "Clin Genet"xsd:string |
http://purl.uniprot.org/citations/31463947 | http://purl.uniprot.org/core/pages | "347-351"xsd:string |
http://purl.uniprot.org/citations/31463947 | http://purl.uniprot.org/core/title | "Novel homozygous variations in PLCZ1 lead to poor or failed fertilization characterized by abnormal localization patterns of PLCzeta in sperm."xsd:string |
http://purl.uniprot.org/citations/31463947 | http://purl.uniprot.org/core/volume | "97"xsd:string |
http://purl.uniprot.org/citations/31463947 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/31463947 |
http://purl.uniprot.org/citations/31463947 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/31463947 |
http://purl.uniprot.org/uniprot/#_A0A140VJR9-mappedCitation-31463947 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/31463947 |
http://purl.uniprot.org/uniprot/#_Q86YW0-mappedCitation-31463947 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/31463947 |
http://purl.uniprot.org/uniprot/#_Q8N7S5-mappedCitation-31463947 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/31463947 |
http://purl.uniprot.org/uniprot/#_Q8N7X7-mappedCitation-31463947 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/31463947 |
http://purl.uniprot.org/uniprot/A0A140VJR9 | http://purl.uniprot.org/core/mappedCitation | http://purl.uniprot.org/citations/31463947 |