Abstract:
:Human chromosome deletions in Yq11 seem to occur frequently as de novo mutation events in men with idiopathic azoospermia or severe oligozoospermia. However, the molecular extensions of these deletions are variable. They can be large and therefore visible under the microscope or small, not visible under the microscope, and containing the deletion of one or more DNA loci recently mapped in an apparently consecutive order along the Yq11 chromosome region. The results of 20 extensive microdeletion screening programmes have now corroborated the prevalence of the deletion of three non-overlapping DNA regions in proximal, middle and distal Yq11, which were designated earlier as AZFa, AZFb and AZFc. Deletions of single DNA loci were also reported, but as de novo and as polymorphic mutation events. Their clinical significance with regard to the men's infertility should therefore initially be handled with caution. Multiple Y genes expressed in human testis have now been mapped to each AZF region. At least one of them should be functional in human spermatogenesis and, if mutated, cause azoospermia. However, gene-specific mutations leading to the azoospermia phenotype have not yet been found for any of these AZF candidate genes. This might raise the question as to whether an AZF gene really exists in Yq11 or if the azoospermia phenotypes are only observed after deletion of a complete AZF region, after deletion of its complete gene content.
journal_name
Mol Hum Reprodjournal_title
Molecular human reproductionauthors
Vogt PHdoi
10.1093/molehr/4.8.739subject
Has Abstractpub_date
1998-08-01 00:00:00pages
739-44issue
8eissn
1360-9947issn
1460-2407journal_volume
4pub_type
杂志文章,评审abstract::Charcot-Marie-Tooth (CMT) disease type 1A is an autosomal dominant peripheral neuropathy characterized by slow progressive distal muscle wasting and weakness, and decreased nerve conduction velocities. Most CMT1A cases (>98%) are caused by a duplication of a 1.5 Mb region on the short arm of chromosome 17 containing t...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/4.10.978
更新日期:1998-10-01 00:00:00
abstract::Human sperm contain similar amounts of protamine-1 (P1) and protamine-2 (P2). Although an aberrant protamine ratio have been observed in subfertile men, functional evidence is provided by protamine knockout mice exhibiting male infertility. As sperm DNA integrity is known to be linked with DNA fragmentation and apopto...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gar011
更新日期:2011-07-01 00:00:00
abstract::The reproductive lifespan of a woman is determined by the gradual recruitment of quiescent follicles into the growing pool. In humans, ovarian tissue removal from its in vivo environment induces spontaneous activation of resting follicles. Similarly, pharmacological activation of the PI3K/Akt pathway leads to accelera...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gaz053
更新日期:2019-11-30 00:00:00
abstract::Several lines of evidence indicate that mammalian fertilization is initiated via a binding process that is dependent upon the recognition of oligosaccharide sequences associated with zona pellucida (ZP) glycoproteins. Here, specific chemical and enzymatic methods were employed to modify human ZP and to test their effe...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/4.4.318
更新日期:1998-04-01 00:00:00
abstract:STUDY QUESTION:Which different pathways and functions are altered in rhesus monkey oocytes that fail to mature after an ovulatory stimulus? SUMMARY ANSWER:Failed to mature (FTM) oocytes complete a large portion of the transition in transcriptome composition associated with normal maturation, but also manifest numerous...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gay032
更新日期:2018-10-01 00:00:00
abstract::An altered inflammatory activity due to functionally relevant polymorphisms of the innate immune system may influence pathways leading to labour and, therefore, impact on the frequency of preterm birth. We examined five polymorphisms of the innate immune system in a large cohort of preterm very-low-birth-weight (VLBW,...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gah120
更新日期:2004-12-01 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 QUESTION:Can enzymatically dispersed testicular cells from adult men reassemble into seminiferous cord-like structures in vitro? SUMMARY ANSWER:Adult human testicular somatic cells reassembled into testicular cord-like structures via dynamic interactions of Sertoli and peritubular cells. WHAT IS KNOWN ALREADY:I...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gax063
更新日期:2018-02-01 00:00:00
abstract::Polar body emission is a specialized cell division throughout the animal kingdom, serving to reduce chromosome ploidy while preserving the egg cytoplasm. Critical to polar body emission are the asymmetric positioning of the meiotic spindle prior to anaphase, with one pole attached to the oocyte cortex, and the simulta...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gar026
更新日期:2011-05-01 00:00:00
abstract::Survivin is a novel inhibitor of apoptosis. It has been reported that survivin is expressed during fetal development and in cancer tissues, but its expression has not been reported in adult tissues. We investigated the expression of survivin in the endometria of women with regular menstrual cycles using reverse transc...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/6.6.529
更新日期:2000-06-01 00:00:00
abstract:Study Question:Can endometrial mesenchymal stromal cells (E-MSCs) differentiate into endothelial cells in an in vitro co-culture system with human umbilical vein endothelial cells (HUVECs)? Summary Answer:E-MSCs can acquire endothelial markers and function in a direct co-culture system with HUVECs. What is Known Alre...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gax006
更新日期:2017-03-01 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::Human endometrium is the major organ that produces glycodelin A (GdA). The production of endometrial GdA causes a fluctuation of the peripheral glycodelin concentrations in women during the menstrual cycle and pregnancy. It has recently been reported that the rise of plasma concentrations of glycodelin is correlated w...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/5.4.372
更新日期:1999-04-01 00:00:00
abstract::The use of interphase fluorescent in situ hybridization (FISH) has shown that a large number of human embryos exhibit chromosomal abnormalities in vitro. The most common abnormality is mosaicism which is seen in up to 50% of preimplantation embryos at all stages of development. In this study, comparative genomic hybri...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gam087
更新日期:2008-02-01 00:00:00
abstract::Sperm capacitation is a maturation event that takes place in the female reproductive tract and is essential for fertilization. A family of phospholipid-binding proteins present in bovine seminal plasma (BSP proteins) binds the sperm membrane at ejaculation and promotes bovine sperm capacitation. Homologues of these pr...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gal098
更新日期:2007-01-01 00:00:00
abstract::Controlling the sex of offspring by the separation of X and Y chromosome-bearing spermatozoa using flow cytometry has been reported as a clinical technique aiding prevention of X-linked diseases. Although this technique has resulted in several hundred normal births in animals and at least one human birth, there is sti...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/3.9.821
更新日期:1997-09-01 00:00:00
abstract:STUDY QUESTION:Could a more detailed evaluation of marmoset spermatogonial morphology, kinetics and niches using high-resolution light microscopy (HRLM) lead to new findings? SUMMARY ANSWER:Three subtypes of marmoset undifferentiated spermatogonia, which were not evenly distributed in terms of number and position alon...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gay017
更新日期:2018-06-01 00:00:00
abstract::Mammalian sperm chromatin is highly condensed, so isolating DNA from such chromatin can be a formidable task. The procedures that produce high quality DNA from somatic cells fail to yield quality sperm DNA. In this study we have modified the previously used guanidinium method to make it simple and efficient in isolati...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/3.11.953
更新日期:1997-11-01 00:00:00
abstract::Imprinted genes are characterized by expression of only one of the two alleles according to its inheritance from the mother or the father. This mono-allelic expression must arise from primary differential epigenetic modification of the parental alleles of the imprinted gene in the spermatozoon and the oocyte. Most of ...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/7.9.839
更新日期:2001-09-01 00:00:00
abstract::Oocyte vitrification has been introduced into clinical settings without extensive pre-clinical safety testing. In this study, we analysed major safety aspects of human oocyte vitrification in a high security closed system: (i) chromosomal meiotic segregation, (ii) embryonic developmental kinetics and (iii) DNA (hydrox...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gav013
更新日期:2015-06-01 00:00:00
abstract::Embryo implantation and subsequent decidualization, trophoblast invasion and formation of a functional placenta are crucial for establishment and maintenance of pregnancy. Interleukin-11 signalling has been shown to be obligatory for adequate decidualization and trophoblast invasion in mice. Defects in IL-11 signallin...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gah107
更新日期:2004-11-01 00:00:00
abstract::Ascorbic acid serves a vital role as a pre-eminent antioxidant. In animals, it has been shown to be concentrated in granulosa and theca cells of the follicle, in luteal cells of the corpus luteum, and in the peripheral cytoplasm of the oocyte. We have previously identified hormonally-regulated ascorbic acid transporte...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/5.4.299
更新日期:1999-04-01 00:00:00
abstract::Prader-Willi syndrome (PWS) is a genomic disorder mostly caused by deletions of 15q11-q13 region (70%). It has been suggested that the particular genomic architecture of 15q11-q13 region, characterized to be flanked by low copy repeats, could predispose it to Non-Allelic Homologous Recombination (NAHR). However, no st...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gaq005
更新日期:2010-05-01 00:00:00
abstract::Inhibin production has been demonstrated in malignant epithelial ovarian tumours, but secretion of inhibins by benign cystadenoma has not yet been reported. The present study evaluated the concentrations of inhibin A and inhibin B and the relationship with oestradiol and nitric oxide metabolites in fluid collected fro...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/6.12.1079
更新日期:2000-12-01 00:00:00
abstract::This study was undertaken to evaluate the effects of gamma-aminobutyric acid (GABA) and GABAergic agonists and antagonists on sperm kinematic parameters and hyperactivation, evaluated by a computer-assisted semen analysis (CASA) system, and intracellular cAMP content in 22 normozoospermic semen samples. Because of the...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/2.10.733
更新日期:1996-10-01 00:00:00
abstract::Follicular fluid proteoglycans play an important role in human oocyte maturation, including the development of a fluid-filled compartment and maintenance of the hypocoagulative state of the follicular fluid. Human xylosyltransferase (EC 2.4.2.26, XT) is the key enzyme in the biosynthesis of glycosaminoglycan chains in...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/8.12.1079
更新日期:2002-12-01 00:00:00
abstract::Mammalian sperm undergo a series of maturation steps before acquiring fertilization competence. Our previous work demonstrated the importance of binder of sperm (BSP) proteins in bovine sperm capacitation. Recent studies identified a BSP-homologous DNA sequence in the human genome (BSPH1) and mRNA expression in the ep...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gan077
更新日期:2009-02-01 00:00:00
abstract:STUDY QUESTION:Is it possible to identify original compounds that are able to enhance sperm motility from the venom of the scorpion Scorpio maurus palmatus? SUMMARY ANSWER:We identified a potent disulfide-rich peptide (DRP) of 73 amino acids that significantly improved the motility of fresh and frozen-thawed sperm in ...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gaw075
更新日期:2017-02-10 00:00:00
abstract::Human pregnancy represents a situation of semiallograft to maternal host. Therefore, it has been reported that tolerance to the fetal allograft represents a mechanism for maintaining a pregnancy. CD4(+)CD25(bright) regulatory T cells are known to play an important role in the development and maintenance of tolerance i...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gah044
更新日期:2004-05-01 00:00:00