Results 81 to 90 of about 2,192 (198)

Fine characterisation of a recombination hotspot at the DPY19L2 locus and resolution of the paradoxical excess of duplications over deletions in the general population. [PDF]

open access: yesPLoS Genetics, 2013
We demonstrated previously that 75% of infertile men with round, acrosomeless spermatozoa (globozoospermia) had a homozygous 200-Kb deletion removing the totality of DPY19L2.
Charles Coutton   +9 more
doaj   +1 more source

Novel ACTL7A variants in males lead to fertilization failure and male infertility

open access: yesAndrology, Volume 13, Issue 5, Page 1117-1126, July 2025.
Abstract Background Total fertilization failure occurs in 1%–3% of all intracytoplasmic sperm injection cycles. Genetic defects are found to be crucial causes responsible for total fertilization failure after intracytoplasmic sperm injection. However, the reported genes only elucidate a small proportion of total fertilization failure cases, and more ...
Meng Wang   +6 more
wiley   +1 more source

Genome-wide 5-hydroxymethylcytosine modification pattern is a novel epigenetic feature of globozoospermia

open access: yes, 2015
Discovery of 5-hydroxymethylcytosine (5hmC) in mammalian genomes has excited the field of epigenetics, but information on the genome-wide distribution of 5hmC is limited. Globozoospermia is a rare but severe cause of male infertility.
Chong, Ze-Chen   +8 more
core   +1 more source

Essential role for SUN5 in anchoring sperm head to the tail

open access: yeseLife, 2017
SUN (Sad1 and UNC84 domain containing)-domain proteins are reported to reside on the nuclear membrane playing distinct roles in nuclear dynamics. SUN5 is a new member of the SUN family, with little knowledge regarding its function.
Yongliang Shang   +18 more
doaj   +1 more source

Human asthenozoospermia: Update on genetic causes, patient management, and clinical strategies

open access: yesAndrology, Volume 13, Issue 5, Page 1044-1064, July 2025.
Abstract Background In mammals, sperm fertilization potential relies on efficient progression within the female genital tract to reach and fertilize the oocyte. This fundamental property is supported by the flagellum, an evolutionarily conserved organelle, which contains dynein motor proteins that provide the mechanical force for sperm propulsion and ...
Emma Cavarocchi   +5 more
wiley   +1 more source

The LINC complex component Sun4 plays a crucial role in sperm head formation and fertility

open access: yesBiology Open, 2015
LINC complexes are evolutionarily conserved nuclear envelope bridges, physically connecting the nucleus to the peripheral cytoskeleton. They are pivotal for dynamic cellular and developmental processes, like nuclear migration, anchoring and positioning ...
Elisabeth Pasch   +4 more
doaj   +1 more source

Novel variations in TENT5D lead to teratozoospermia in infertile patients

open access: yesAndrology, Volume 12, Issue 6, Page 1336-1346, September 2024.
Abstract Purpose Teratozoospermia is the main pathogenic factor of male infertility. However, the genetic etiology of teratozoospermia is largely unknown. This study aims to clarify the relationship between novel variations in TENT5D and teratozoospermia in infertile patients. Materials and methods Two infertile patients were enrolled.
Ying‐Teng Zhang   +10 more
wiley   +1 more source

A normal livebirth after intracytoplasmic sperm injection for globozoospermia without assisted oocyte activation

open access: yes, 2000
The successful outcome of intracytoplasmic sperm injection (ICSI) with round-headed spermatozoa (globozoospermia) is reported. A couple with infertility secondary to globozoospermia received ICSI treatment.
Stone, S   +4 more
core   +1 more source

Sperm morphology: Evaluating its clinical relevance in contemporary fertility practice

open access: yesReproductive Medicine and Biology, Volume 23, Issue 1, January/December 2024.
Abstract Background The World Health Organization (WHO) recommends reporting sperm morphology in a standard semen analysis. However, the clinical utility and prognostic value of morphology is often debated. Methods We reviewed and summarized studies that assessed both the benefits and limitations of sperm morphology in the context of natural fertility,
Daniel L. Pelzman, Jay I. Sandlow
wiley   +1 more source

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