{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["39(3)"],"submitter":["Liu M"],"pubmed_abstract":["<h4>Purpose</h4>To evaluate the unknown genetic causes of teratozoospermia, and determine the pathogenicity of candidate variants.<h4>Methods</h4>A primary infertile patient and his family members were recruited in the West China Second University Hospital of Sichuan University. Whole-exome sequencing was performed to identify causative genes in a man with teratozoospermia. Immunofluorescence staining and western blotting were applied to assess the pathogenicity of the identified variant. Intracytoplasmic sperm injection (ICSI) was used to assist fertilization for the patient with teratozoospermia.<h4>Results</h4>We performed whole-exome sequencing (WES) and detected a novel homozygous frameshift mutation of c.335_336del [p.E112Vfs*3] in DNAJB13 on a primary infertile male patient. Intrigu"],"journal":["Journal of assisted reproduction and genetics"],"pagination":["757-764"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC8995218"],"repository":["biostudies-literature"],"pubmed_title":["A novel homozygous mutation in DNAJB13-a gene associated with the sperm axoneme-leads to teratozoospermia."],"pmcid":["PMC8995218"],"pubmed_authors":["Li J","Yang Y","Liu M","Jiang C","Zhou Y","Shen Y","Sun Y"],"additional_accession":[]},"is_claimable":false,"name":"A novel homozygous mutation in DNAJB13-a gene associated with the sperm axoneme-leads to teratozoospermia.","description":"<h4>Purpose</h4>To evaluate the unknown genetic causes of teratozoospermia, and determine the pathogenicity of candidate variants.<h4>Methods</h4>A primary infertile patient and his family members were recruited in the West China Second University Hospital of Sichuan University. Whole-exome sequencing was performed to identify causative genes in a man with teratozoospermia. Immunofluorescence staining and western blotting were applied to assess the pathogenicity of the identified variant. Intracytoplasmic sperm injection (ICSI) was used to assist fertilization for the patient with teratozoospermia.<h4>Results</h4>We performed whole-exome sequencing (WES) and detected a novel homozygous frameshift mutation of c.335_336del [p.E112Vfs*3] in DNAJB13 on a primary infertile male patient. Intrigu","dates":{"release":"2022-01-01T00:00:00Z","publication":"2022 Mar","modification":"2025-04-19T07:33:36.6Z","creation":"2025-04-19T07:33:36.6Z"},"accession":"S-EPMC8995218","cross_references":{"pubmed":["35166991"],"doi":["10.1007/s10815-022-02431-1"]}}