نتایج جستجو برای: total globozoospermia
تعداد نتایج: 800043 فیلتر نتایج به سال:
SPACA1 is a membrane protein that localizes in the equatorial segment of spermatozoa in mammals and is reported to function in sperm-egg fusion. We produced a Spaca1 gene-disrupted mouse line and found that the male mice were infertile. The cause of this sterility was abnormal shaping of the sperm head reminiscent of globozoospermia in humans. Disruption of Spaca1 led to the disappearance of th...
We report the successful outcome of intracytoplasmic sperm injection (ICSI) treatment in two siblings with familial globozoospermia. After controlled ovarian hyperstimulation and oocyte pick-up, retrieved oocytes were mechanically activated before ICSI and a fertilization rate of 33.3% was achieved in the first case. The second couple underwent ICSI without oocyte activation and a 9.1% fertiliz...
cases found that 11 patients (61.1%) had a homozygous deletion of a 200‐kb fragment of the DPY19L gene, two (11.1%) had a homozygous nonsynonymous mutation in exon 8 (p.R298C), one (5.6%) had a homozygous new splice site mutation at the junction of exon‐intron 16 (c.1579_1580 + 4delAGGTAAinsTCAT), and four (22.2%) had no mutations in DPY19L2, SPATA16, or PICK1.4 In humans, the DPY19L2 gene is l...
BACKGROUND Male infertility affects >20 million men worldwide and represents a major health concern. Although multifactorial, male infertility has a strong genetic basis which has so far not been extensively studied. Recent studies of consanguineous families and of small cohorts of phenotypically homogeneous patients have however allowed the identification of a number of autosomal recessive cau...
Acrosome plays an integral role during fertilization and its absence in individuals with globozoospermia leads to failure of in vitro fertilization (IVF) and oocyte activation post-intracytoplasmic sperm injection (ICSI). A variety of processes, organelles and structures are involved in acrosome biogenesis including, trans-Golgi network (TGN), acroplaxome and cellular trafficking. This review a...
We have read with a great interest the excellent article by Pasch et al. (2015) which describes the role of Sun4 in sperm head formation and fertility. The authors have used a Sun4 knockout (Sun4) mouse model to study the function of Sun4 in spermatogenesis. They observed that homozygous Sun4 males are infertile and present a globozoospermia-like phenotype. Further, they demonstrate that Sun4 i...
BACKGROUND The intracytoplasmic sperm injection procedure ending with total fertilization failure is very distressfull event for both the clinician and the patient. OBJECTIVE The aim of this study was to identify independent factors which could be used to identify total fertilization failure before the day of intracytoplasmic sperm injection. MATERIALS AND METHODS This was a retrospective s...
The trans-Golgi network (TGN) functions as a hub organelle in the exocytosis of clathrin-coated membrane vesicles, and SMAP2 is an Arf GTPase-activating protein that binds to both clathrin and the clathrin assembly protein (CALM). In the present study, SMAP2 is detected on the TGN in the pachytene spermatocyte to the round spermatid stages of spermatogenesis. Gene targeting reveals that SMAP2-d...
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