azoospermia/protease

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The value of epididymal protease inhibitor in differential diagnosis between obstructive azoospermia and non-obstructive azoospermia.

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There are no efficient and noninvasive clinical tests to distinguish between obstructive azoospermia (OA) and non-obstructive azoospermia (NOA). Epididymal protease inhibitor (Eppin) protein is secreted specifically by testes and epididymides in male reproductive system. It does not exist in seminal

Ubiquitin-specific protease 26 (USP26) is not essential for mouse gametogenesis and fertility.

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Ubiquitin-specific protease 26 (USP26) is a deubiquitylating enzyme belonging to the USPs family with a transcription pattern restricted to the male germline. Since protein ubiquitination is an essential regulatory mechanism during meiosis, many efforts have been focused on elucidating the function

[Detection of Y chromosome microdeletions in semen of patients with azoospermia: study of 241 cases].

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OBJECTIVE To set up a simple and reliable method to screen Y chromosome microdeletions in semen of azoospermic patients, and to explore the incidence and loci of Y chromosome microdeletions in Chinese azoospermia. METHODS Two hundred and forty-one semen samples, 51 containing blood, were collected

Association of 370-371insACA, 494T>C, and 1423C>T haplotype in ubiquitin-specific protease 26 gene and male infertility: a meta-analysis.

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Whether the 370-371insACA, 494T>C, and 1423C>T haplotype in ubiquitin-specific protease 26 (USP26) gene is associated with male infertility is controversial. To clarify this issue, we conducted a meta-analysis based on the most recent studies. Eligible studies were screened by using PubMed and

Novel mutations in testis-specific ubiquitin protease 26 gene may cause male infertility and hypogonadism.

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Patients (n = 188) with non-obstructive azoospermia (NOA), and 17 fertile controls were screened for sequence changes in the ubiquitin specific protease (USP) 26 gene. Semen analysis, hormonal evaluation, and testicular biopsies were performed. DNA was extracted from whole blood. Denaturing

Mutations in the chromosome pairing gene FKBP6 are not a common cause of non-obstructive azoospermia.

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Although it is generally thought that spermatogenic failure has a genetic background, to date only a limited percentage of men with non-obstructive azoospermia (NOA) are diagnosed with a genetic defect. The only common and well-established genetic causes of NOA in humans are numerical and structural

Association between ubiquitin-specific protease USP26 polymorphism and male infertility in Chinese men.

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BACKGROUND Increased sperm ubiquitin was inversely associated with sperm count and motility. Ubiquitin-specific protease 26 (USP26), which is an X-linked gene, has been studied as a potential infertility gene. There are conflicting reports on whether variations in USP26 are associated with

SPINK2 deficiency causes infertility by inducing sperm defects in heterozygotes and azoospermia in homozygotes.

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Azoospermia, characterized by the absence of spermatozoa in the ejaculate, is a common cause of male infertility with a poorly characterized etiology. Exome sequencing analysis of two azoospermic brothers allowed the identification of a homozygous splice mutation in SPINK2, encoding a serine

ADAMTS1 and ADAMTS5 metalloproteases produced by Sertoli cells: a potential diagnostic marker in azoospermia.

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In this study, our aim was to detect protein levels of A Disintegrin and Metalloproteinase with Thrombospondin Motifs 1 and 5 (ADAMTS1 and ADAMTS5) proteases and to examine the effect of in vitro FSH supplementation on protease production in cultured Sertoli cells. The expression of

Serum anti-Müllerian hormone levels do not predict the efficiency of testicular sperm retrieval in men with non-obstructive azoospermia.

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BACKGROUND We aimed to determine whether serum concentrations of anti-Müllerian hormone (AMH) can be used as a tool for prediction of the efficacy of sperm retrieval. METHODS This was a prospective cohort observational study. AMH levels were determined in 47 men presenting for infertility

Ubiquitin-specific protease (USP26) gene alterations associated with male infertility and recurrent pregnancy loss (RPL) in Iranian infertile patients.

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OBJECTIVE The human X chromosome is enriched with testis-specific genes that may be crucial for male fertility. Mutations in USP26 gene have been proposed to be associated with male infertility. Moreover, the importance of the ubiquitin pathway during different stages of mammalian fertilization and

Sequence analysis of the X-linked USP26 gene in severe male factor infertility patients and fertile controls.

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The 1090C>T,L364F variant of the ubiquitin protease 26 (USP26) gene does not appear to be related to male infertility. Mutations of the USP26 gene do not appear to be a common cause of idiopathic azoospermia or severe oligozoospermia.

Alterations of the USP26 gene in Caucasian men.

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The Ubiquitin Specific Protease 26 gene is a testis-specific gene that is located on the X chromosome. Sequence variants of this gene were previously reported in men with azoospermia caused by defects at the level of spermatogenesis. Especially a cluster of three changes (c.370_371insACA, c.494T>C

Transcriptional levels of four Y chromosome-linked AZF genes in azoospermic men and their association with successful sperm retrieval.

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OBJECTIVE To investigate the transcriptional levels of four azoospermia factor genes in the testis of azoospermic men and to investigate the association between transcriptional levels and the results of sperm retrieval. METHODS Thirty-eight azoospermic men with normal karyotype and without Y

Single nucleotide polymorphisms of USP26 in azoospermic men.

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Some studies have focused on the association between male infertility and single nucleotide polymorphisms (SNPs) in the ubiquitin-specific protease 26 (USP26) gene, but the results are controversial. In this case-control study including both normozoospermic men and patients with nonobstructive

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