Abstract:
:Individual spermatozoa from the father of two affected infants with osteogenesis imperfecta were separated by dilution and micromanipulation. A segment of the type I collagen gene containing the mutant region was amplified by nested polymerase chain reaction and sequenced. Among 40 individual spermatozoa, 15 specimens were identified as mutants with a substitution of guanine3208 to adenine (glycine862 to serine) while 18 and seven specimens were of the wild and mixed types respectively. Through this study, we have established a molecular procedure that can be considered as prerequisite for preimplantation diagnosis of genetic disorders with a single point mutation.
journal_name
Mol Hum Reprodjournal_title
Molecular human reproductionauthors
Iida T,Suzumori K,Ikuta K,Tanemura M,Yagami Y,Okamoto T,Hata Adoi
10.1093/molehr/2.2.131subject
Has Abstractpub_date
1996-02-01 00:00:00pages
131-4issue
2eissn
1360-9947issn
1460-2407journal_volume
2pub_type
杂志文章abstract::The involvement of protein kinases in platelet activating factor (PAF)-induced acrosome reaction of human spermatozoa was investigated using specific inhibitors of protein kinase A (PKA), protein kinase C (PKC) and protein tyrosine kinase (PTK). PAF (10(-9)-10(-11) M) treatment of spermatozoa enhanced the acrosome rea...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/2.6.401
更新日期:1996-06-01 00:00:00
abstract::Fatty acid amide hydrolase (FAAH) is involved in embryo development and implantation. Sex hormones down-modulate FAAH activity in the mouse uterus. However, the regulation of the FAAH gene in the uterus is unknown. Our results showed that FAAH mRNA is localized to uterine epithelial cells and circular myometrium durin...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/8.7.651
更新日期:2002-07-01 00:00:00
abstract::Deletions of the AZFc interval of the human Y chromosome are found in >5% of male patients with idiopathic infertility and are associated with a severely reduced sperm count. The most common deletion type is large (>1 Mb) and removes members of the Y-borne testis-specific gene families of BPY2, CDY1, DAZ, PRY, RBMY2 a...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/6.9.789
更新日期:2000-09-01 00:00:00
abstract::In recent years, the impact of sperm DNA damage on fertility has become an important issue. The different technologies developed to check sperm DNA fragmentation lead to the same conclusion: DNA damage negatively impacts upon reproductive processes. Oocyte DNA repair capacity is one of the cues to understanding embryo...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gam038
更新日期:2007-08-01 00:00:00
abstract::Early embryonic development is characterized by drastic changes in chromatin structure that affects the accessibility of the chromatin. In human, the chromosome reorganization and its involvement in the first linage segregation are poorly characterized due to the difficulties in obtaining human embryonic material and ...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gaaa048
更新日期:2020-09-01 00:00:00
abstract::In recent years, advances in imaging probes, cutting-edge microscopy techniques and powerful bioinformatics image analysis have markedly expanded the imaging toolbox available to developmental biologists. Apart from traditional qualitative studies, embryonic development can now be investigated in vivo with improved sp...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gav048
更新日期:2016-03-01 00:00:00
abstract::Regulation of germ-cell-specific transcription is essential for the differentiation and other physiological processes of germ cells. Germ-cell-specific transcription factors, Sohlh2 and Figla, play key roles in gametogenesis. To elucidate whether an epigenetic mechanism is involved in the controlled expression of Sohl...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gar017
更新日期:2011-09-01 00:00:00
abstract::We report here the molecular cloning and characterization of a novel human actin capping protein alpha3 (cpalpha3) cDNA, an orthologue of the mouse male germ cell-specific cpalpha3, and the organization of the human cpalpha3 genomic structure. The entire coding region of the human cpalpha3 cDNA showed 82.1% similarity...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/8.6.531
更新日期:2002-06-01 00:00:00
abstract::Human endometrial stromal cells (ESC) can produce a variety of chemokines, especially after inflammatory stimulation. Interferon-gamma-inducible protein-10 (IP-10) is a potent chemoattractant for lymphocytes, and belongs to the family of non-ELR CXC chemokines. The expression of IP-10 in ESC after stimulation with int...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/8.2.176
更新日期:2002-02-01 00:00:00
abstract::The aetiology of cryptorchidism is for the most part unknown and appears to be multifactorial. Recently, a product of Leydig cells termed Leydig insulin-like hormone (INSL3) has been proposed as a putative trophic hormone of the first part of descent. Absence of Insl3 in male mice results in bilateral cryptorchidism a...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/6.4.298
更新日期:2000-04-01 00:00:00
abstract:STUDY QUESTION:Does dynamin regulate human sperm acrosomal exocytosis? SUMMARY ANSWER:Our studies of dynamin localization and function have implicated this family of mechanoenzymes in the regulation of progesterone-induced acrosomal exocytosis in human spermatozoa. WHAT IS KNOWN ALREADY:Completion of an acrosome reac...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gax044
更新日期:2017-10-01 00:00:00
abstract::Endometriosis is a gynaecological disease with a certain genetic background, but the locations of possible genomic aberrations are still poorly clarified. Intercellular adhesion molecule-1 (ICAM-1), which is a surface glycoprotein that promotes adhesion in immunological and inflammatory reactions, seems to play a role...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gag002
更新日期:2003-01-01 00:00:00
abstract:STUDY QUESTION:Do human adult Leydig cells (ALCs) within hyperplastic micronodules display characteristics of foetal LCs (FLCs)? SUMMARY ANSWER:The gene expression profiles of FLCs and all ALC subgroups were clearly different, but there were no significant differences in expressed genes between the normally clustered ...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gax012
更新日期:2017-05-01 00:00:00
abstract::Artificial oocyte activation to overcome failed fertilization after intracytoplasmic sperm injection (ICSI) in human oocytes typically employs Ca(2+) ionophores to produce a single cytosolic Ca(2+) increase. In contrast, recombinant phospholipase Czeta (PLCζ) causes Ca(2+) oscillations indistinguishable from those occ...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gav042
更新日期:2015-10-01 00:00:00
abstract::Preimplantation development shifts from a maternal to embryonic programme rapidly after fertilization. Although the majority of oogenetic products are lost during the maternal to embryonic transition (MET), several do survive this interval to contribute directly to supporting preimplantation development. Embryonic gen...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gan063
更新日期:2008-12-01 00:00:00
abstract::We have investigated the possible roles of oncostatin M (OSM), which is a member of the interleukin-6 family of cytokines, in endometrial and endometriotic stromal cell growth. Endometrial and endometriotic stromal cells were collected from the uterus or ovarian chocolate cysts. We observed the expression of mRNA tran...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/7.7.665
更新日期:2001-07-01 00:00:00
abstract::In humans, male and female partners contribute more or less equally to the infertility problem. In approximately 20% of infertile couples, the concurrence of male and female factors is suggested to be responsible for infertility. Neither of these factors are known nor is there a model system to prove this assumption. ...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/8.5.434
更新日期:2002-05-01 00:00:00
abstract::Morphological assessments are the main way in which fertility clinics select in vitro generated embryo(s) for transfer to the uterus. However, it is widely acknowledged that the microscopic appearance of an embryo is only weakly correlated with its viability. Furthermore, the extent to which morphology is affected by ...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gat073
更新日期:2014-02-01 00:00:00
abstract::Success rate in human pregnancies is believed to be very low and sex-specific mechanisms may operate in prenatal loss. Assuming a sex-differential in prenatal loss exists, we examined genetic markers in biologically plausible targets in the HLA complex, other immune system-related and iron-regulatory genes in 388 heal...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gaq047
更新日期:2010-10-01 00:00:00
abstract::Prostaglandin E2 (PGE2) plays a key role in the maintenance of human pregnancy and labour onset. PGE2 can elicit diverse actions within the uterus depending on the PGE2 receptors (EP1, EP2, EP3 and EP4) expressed. By signalling through different intracellular pathways the EP receptors may inhibit or promote smooth mus...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gah158
更新日期:2005-04-01 00:00:00
abstract:STUDY HYPOTHESIS:Does a preferential X chromosome inactivation (XCI) pattern exist in female human pluripotent stem cells (hPSCs) and does the pattern change during long-term culture or upon differentiation? STUDY FINDING:We identified two independent phenomena that lead to aberrant XCI patterns in female hPSC: a rapi...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gaw004
更新日期:2016-04-01 00:00:00
abstract::Cystic fibrosis (CF) is usually considered a rare disease in the Indian population. Two studies have reported on the frequency of cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in Indian males with congenital absence of the vas deferens (CAVD), however, data on the spectrum of CFTR gene muta...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gau047
更新日期:2014-09-01 00:00:00
abstract:STUDY HYPOTHESIS:What factors in mouse oocytes are involved in the ageing-related decline in oocyte quality? STUDY FINDING:The maternal effect gene Mater is involved in ageing-related oocyte quality decline in mice. WHAT IS KNOWN ALREADY:Premature loss of centromere cohesion is a hallmark of ageing-related oocyte qua...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gaw001
更新日期:2016-04-01 00:00:00
abstract::Acrosome status in human spermatozoa from 20 normozoospermic men was evaluated by flow cytometry following the induction of the acrosome reaction with the ionophore A23187. Dual fluorescence staining of methanol fixed spermatozoa incubated with and without (control) the ionophore A23187 was performed with probes which...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/4.3.243
更新日期:1998-03-01 00:00:00
abstract::Patients with endometriosis are characterized by the ability of the endometrium to implant and by the peritoneal response to the tissue; angiogenic factors may play a significant role in the aetiology of endometriosis supporting the implantation of ectopic endometrial cells. Vascular endothelial growth factor (VEGF) i...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/6.1.50
更新日期:2000-01-01 00:00:00
abstract::Testis expressed gene 18 (Tex18) is a small gene with one exon of 240 bp, which is specifically expressed in male germ cells. The gene encodes for a protein of 80 amino acids with unknown domain. To investigate the function of (Tex18) gene, we generated mice with targeted disruption of the (Tex18) gene by homologous r...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gal107
更新日期:2007-03-01 00:00:00
abstract::In spite of progress in diagnosis and treatment, prostate cancer has become one of the most frequent lethal cancers in males in many Western industrialized countries. Research on the molecular biology of prostate cancer is expected to reveal those aspects of Western lifestyle contributing to its high incidence with th...
journal_title:Molecular human reproduction
pub_type: 杂志文章,评审
doi:10.1093/molehr/gag064
更新日期:2003-08-01 00:00:00
abstract:STUDY QUESTION:Does A20 regulate mediators involved in the terminal processes of human labour in primary myometrial and amnion cells? SUMMARY ANSWER:A20 is a nuclear factor-kappa B (NF-κB) responsive gene that acts as a negative regulator of NF-κB-induced expression of pro-labour mediators. WHAT IS KNOWN ALREADY:Infl...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gax041
更新日期:2017-09-01 00:00:00
abstract::Advanced glycation end products (AGEs) affect the follicular microenvironment. The close relationship between AGEs, proinflammatory cytokine production and activation of the unfolded protein response (UPR), which involves activating transcription factor 4 (ATF4), is crucial for regulation of various cellular functions...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gaz050
更新日期:2019-11-30 00:00:00
abstract::Observational human data and several lines of animal experimental data indicate that maternal obesity impairs offspring health. Here, we comprehensively tested the model that maternal obesity causes defects in the next three generations of oocytes and embryos. We exposed female F0 mice to a high-fat/high-sugar (HF/HS)...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gaz049
更新日期:2019-11-30 00:00:00