ArticleCroatian medical journal2021
A novel mutation in FK506 binding protein-like (FKBPL) causes male infertility.
Article in Croatian medical journal, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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3 citing papers in PubMed, 3 citations in OpenAlex.
- A long noncoding RNA with enhancer-like function in pig zygotic genome activation.Journal of molecular cell biology · 2025Article
- New perspectives in the genetic diagnosis of male infertility.Croatian medical journal · 2021Article
- Mutations in Hsp90 Cochaperones Result in a Wide Variety of Human Disorders.Frontiers in molecular biosciences · 2021Review
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Authors and funding
3 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
aimTo perform a mutation analysis of FK506 binding protein-like (FKBPL) in patients with azoospermia.
methodsDNA samples were isolated from the peripheral blood of 30 azoospermic male patients with normal 46 XY karyotype and 10 healthy controls. Multiplex polymerase chain reaction assays were used to evaluate Y microdeletions, and the patients without deletions were further analyzed. Sanger sequencing was used for mutation analysis.
resultsA heterozygous adenine to guanine substitution was observed at position c.28 (c.28A>G) (one patient), guanine to adenine substitution at c.90 (c.90G>A) (three patients), and a novel insertion mutation of TCTCATAAGTCT at c. 229_240dup (two patients), all in FKBPL exon 2. Furthermore, four different benign variants were observed in the same gene.
conclusionOur study supports the literature on the etiologic effects of changes on autosomal chromosomes and highlights the importance of molecular analysis of all known and unknown genes that could be involved in male sexual development and function.
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Identifiers
34212559PMC8275947W3176134890What OpenQuestion holds
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