Mapping the Non-Canonical Splicing Variants: Decrypting the Hidden Genetic Architecture of Idiopathic Male Infertility.
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DOI: 10.1002/advs.202515512
Abstract: Canonical splicing variants (±2) contribute significantly to genetic disorders, yet the clinical significance of non-canonical splicing variants (NCSVs) that occur outside of canonical splicing sites remains unknown in male infertility. A comprehensive evaluation of reported… read more here.
Keywords: infertility; canonical splicing; non canonical; splicing variants ... See more keywords
Novel homozygous truncating variants in ZMYND15 causing severe oligozoospermia and their implications for male infertility
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DOI: 10.1002/humu.24138
Abstract: Sequence variants of ZMYND15 cause azoospermia in humans, but they have not yet been reported in infertile men with severe oligozoospermia (SO). We performed whole‐exome and Sanger sequencing to identify suspected causative variants in 414… read more here.
Keywords: novel homozygous; variants zmynd15; male infertility; infertility ... See more keywords
Genetic variations of antioxidant genes and their association with male infertility in Vietnamese men
Sign Up to like & getrecommendations! Published in 2023 at "Journal of Clinical Laboratory Analysis"
DOI: 10.1002/jcla.24829
Abstract: Antioxidant genes, such as superoxide dismutase (SOD), catalase (CAT), and nitric oxide synthase (NOS), play critical roles in spermatogenesis and sperm functions. Polymorphisms of antioxidant genes have been shown to be strongly associated with sperm… read more here.
Keywords: association male; variations antioxidant; genes association; genetic variations ... See more keywords
Novel biallelic mutations in TTC29 cause asthenoteratospermia and male infertility
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DOI: 10.1002/mgg3.2078
Abstract: Multiple morphological abnormalities of the sperm flagella (MMAF), which is characterized as asthenoteratospermia involving absent, short, bent, coiled, and/or irregular‐caliber flagella, is a rare recessive inherited disorder associated with male infertility. To date, genetic causes… read more here.
Keywords: novel biallelic; mutations ttc29; biallelic mutations; asthenoteratospermia ... See more keywords
Proteomic analysis of seminal extracellular vesicle proteins involved in asthenozoospermia by iTRAQ
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DOI: 10.1002/mrd.23224
Abstract: Asthenozoospermia is a common cause of male infertility, but in most cases its etiology is unknown. The exocytic cell vesicles called seminal extracellular vesicles in the human seminal fluid have been reported to play a… read more here.
Keywords: extracellular vesicles; involved asthenozoospermia; seminal extracellular; proteomic analysis ... See more keywords
Changes in porcine cauda epididymal fluid proteome by disrupting the HPT axis: Unveiling potential mechanisms of male infertility
Sign Up to like & getrecommendations! Published in 2020 at "Molecular Reproduction and Development"
DOI: 10.1002/mrd.23408
Abstract: Male infertility or subfertility is frequently associated with disruption of the hypothalamic–pituitary–testis axis events, like secondary hypogonadism. However, little is known how this condition affects the proteomic composition of the epididymal fluid. In the present… read more here.
Keywords: fluid; gnrh immunized; cauda epididymal; male infertility ... See more keywords
Nationwide survey of urological specialists regarding male infertility: results from a 2015 questionnaire in Japan
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DOI: 10.1002/rmb2.12065
Abstract: To investigate the incidence, etiology, treatment indications, and outcomes regarding infertile male patients in Japan. read more here.
Keywords: urological specialists; survey urological; regarding male; nationwide survey ... See more keywords
Two cases of reversible male infertility due to congenital adrenal hyperplasia combined with testicular adrenal rest tumor
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DOI: 10.1002/rmb2.12068
Abstract: Testicular adrenal rest tumor (TART) is one of the possible causes of male infertility, accompanied by congenital adrenal hyperplasia (CAH). Here are reported two cases of TARTs that were referred to Kobe City Medical Center… read more here.
Keywords: rest tumor; congenital adrenal; adrenal rest; male infertility ... See more keywords
The role of the radiologist in the evaluation of male infertility: recommendations of the European Society of Urogenital Radiology-Scrotal and Penile Imaging Working Group (ESUR-SPIWG) for scrotal imaging
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DOI: 10.1007/s00330-024-10964-5
Abstract: The Scrotal and Penile Imaging Working Group (SPIWG) of the European Society of Urogenital Radiology (ESUR) aimed to produce recommendations on the role of the radiologist in the evaluation of male infertility focused on scrotal… read more here.
Keywords: male infertility; radiology; esur spiwg; scrotal imaging ... See more keywords
The X chromosome and male infertility
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DOI: 10.1007/s00439-019-02101-w
Abstract: The X chromosome is a key player in germ cell development, as has been highlighted for males in previous studies revealing that the mammalian X chromosome is enriched in genes expressed in early spermatogenesis. In… read more here.
Keywords: chromosome male; genetics; biology; male infertility ... See more keywords
A framework for high-resolution phenotyping of candidate male infertility mutants: from human to mouse
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DOI: 10.1007/s00439-020-02159-x
Abstract: Male infertility is a heterogeneous condition of largely unknown etiology that affects at least 7% of men worldwide. Classical genetic approaches and emerging next-generation sequencing studies support genetic variants as a frequent cause of male… read more here.
Keywords: high resolution; resolution phenotyping; male infertility; infertility ... See more keywords