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molecular infertility

Elena Ricci, Paola Viganò, Sonia Cipriani, Francesca Chiaffarino, Stefano Bianchi, Giorgia Rebonato, Fabio Parazzini
BACKGROUND: The potential association between endometriosis and physical activity (PA) has been suggested in several epidemiological studies.We aimed to establish whether PA influences endometriosis risk. METHODS: MEDLINE and EMBASE were searched using "physical activity" OR "exercise" combined with "endometriosis," in Medical Subject Headings and free text. We selected original articles in English, published up to April 2016, evaluating the association between endometriosis and recent or past PA (case-control or cohort studies)...
October 2016: Medicine (Baltimore)
J Floehr, E Dietzel, C Schmitz, A Chappell, W Jahnen-Dechent
STUDY QUESTION: Does antisense oligonucleotide (ASO)-mediated down-regulation of serum fetuin-B cause an infertility-like fetuin-B gene deficiency in female mice? SUMMARY ANSWER: Pharmacological fetuin-B down-regulation by ASO therapy results in reversible infertility in female mice. WHAT IS KNOWN ALREADY: Female fetuin-B deficient (Fetub(-/-)) mice are infertile owing to premature zona pellucida (ZP) hardening. Enzyme activity studies demonstrated that fetuin-B is a potent and highly specific inhibitor of the zona proteinase ovastacin, which cleaves ZP protein 2 (ZP2) and thus mediates definitive ZP hardening...
October 12, 2016: Molecular Human Reproduction
A M Barbosa, S R de Souza, A B Frare, R C Costa E Silva, I R da Costa, K S Freitas E Silva, C L Ribeiro Júnior, B M Bordin, K K V O Moura
Endometriosis is a disease that affects 10 to 15% of the women of reproductive age. It is characterized by the presence of endometrial-like tissues outside of the uterus. Some definitions claim that the functional ectopic tissue is sensitive to the action of hormones. Severity of endometriosis is defined according to a system proposed by the American Society for Reproductive Medicine, which is based on laparoscopic findings. A large number of genetic polymorphisms has been reported for CYP1A1, the gene that is responsible for enzymes involved in stage I detoxification of xenobiotics; this gene is located at 15q22-24, and encodes an isoenzyme that catalyzes the oxidation of polycyclic aromatic hydrocarbons present in phenolic compounds and epoxides...
August 26, 2016: Genetics and Molecular Research: GMR
Erica L Schoeller, Daniel D Clark, Sandeepa Dey, Nathan V Cao, Sheila J Semaan, Ling W Chao, Alexander S Kauffman, Lisa Stowers, Pamela L Mellon
Circadian rhythms synchronize physiological processes with the light-dark cycle and are regulated by a hierarchical system initiated in the suprachiasmatic nucleus (SCN), a hypothalamic region that receives direct photic input. The SCN then entrains additional oscillators in the periphery. Circadian rhythms are maintained by a molecular transcriptional feedback loop, of which BMAL1 is a key member. Disruption of circadian rhythms by deletion of the BMAL1 gene (Bmal1 KO) induces a variety of disease states, including infertility in males, due to unidentified mechanisms...
October 5, 2016: Endocrinology
Xiangrong Cui, Xuan Jing, Xueqing Wu, Meiqin Yan, Qiang Li, Yan Shen, Zhenqiang Wang
Infertility is a significant problem for human reproduction, with males and females equally affected. However, the molecular mechanisms underlying male infertility remain unclear. Spermatogenesis is a highly complex process involving mitotic cell division, meiosis cell division and spermiogenesis; during this period, unique and extensive chromatin and epigenetic modifications occur to bring about specific epigenetic profiles in spermatozoa. It has recently been suggested that the dysregulation of epigenetic modifications, in particular the methylation of sperm genomic DNA, may serve an important role in the development of numerous diseases...
October 2016: Experimental and Therapeutic Medicine
Doudou Wang, Ryo Nitta, Manatsu Morikawa, Hiroaki Yajima, Shigeyuki Inoue, Hideki Shigematsu, Masahide Kikkawa, Nobutaka Hirokawa
The kinesin-8 motor, KIF19A, accumulates at cilia tips and controls cilium length. Defective KIF19A leads to hydrocephalus and female infertility because of abnormally elongated cilia. Uniquely among kinesins, KIF19A possesses the dual functions of motility along ciliary microtubules and depolymerization of microtubules. To elucidate the molecular mechanisms of these functions we solved the crystal structure of its motor domain and determined its cryo-electron microscopy structure complexed with a microtubule...
September 30, 2016: ELife
Cecilia Vecoli, Luigi Montano, Maria Grazia Andreassi
About a quarter of the human diseases occurs for exposure to air pollution. The male reproductive system, and especially spermatogenesis, seems to be particularly sensitive. As result, male infertility is increasing in industrial countries becoming a top priority for public health. In addition to psychological distress and economic constraints, poorer semen quality may have trans-generational effects including congenital malformations in the offspring and predispose to later onset adult diseases. Genetic and epigenetic alterations are involved in the failure of spermatogenesis...
September 26, 2016: Environmental Science and Pollution Research International
Nageswara Rao Boggavarapu, Sujata Lalitkumar, Vijay Joshua, Sergo Kasvandik, Andres Salumets, Parameswaran Grace Lalitkumar, Kristina Gemzell-Danielsson
The complexity of endometrial receptivity at the molecular level needs to be explored in detail to improve the management of infertility. Here, differential expression of transcriptomes in receptive endometrial glands and stroma revealed Ectonucleotide Pyrophosphatase/Phosphodiesterase 3 (ENPP3) as a progesterone regulated factor and confirmed by various methods, both at mRNA and protein level. The involvement of ENPP3 in embryo attachment was tested in an in vitro model for human embryo implantation. Interestingly, there was high expression of ENPP3 mRNA in stroma but not protein...
September 26, 2016: Scientific Reports
Laura Benaglia, Giorgio Candotti, Enrico Papaleo, Luca Pagliardini, Marta Leonardi, Marco Reschini, Lavinia Quaranta, Maria Munaretto, Paola Viganò, Massimo Candiani, Paolo Vercellini, Edgardo Somigliana
STUDY QUESTION: Are women with endometriosis who conceive with IVF at increased risk of preterm birth? SUMMARY ANSWER: Women with endometriosis who conceive with IVF do not face an increased risk of preterm birth. WHAT IS KNOWN ALREADY: The eutopic endometrium of women with endometriosis has been repeatedly shown to present molecular and cellular alterations. On this basis, it has been hypothesized that pregnancy outcome may be altered in affected women...
September 24, 2016: Human Reproduction
B Li, H Luo, Q Weng, S Wang, Z Pan, Z Xie, W Wu, H Liu, Q Li
FK506-binding protein 6 (FKBP6) is essential for meiosis during mammalian spermatogenesis. However, the molecular regulation of FKBP6 during spermatogenesis remains unclear. In the present study, we performed molecular characterization of the meiosis-specific gene FKBP6 in yak testes. Yak FKBP6 encodes a polypeptide of 295 amino acid residues with an FK506-binding domain (FKBP_C) and three tetratricopeptide repeat domains. The methylation level of the FKBP6 promoter in testes was significantly higher in cattle-yak with male sterility than in yak, and the FKBP6 promoter was methylated in liver tissues in which FKBP6 is not expressed...
September 22, 2016: Reproduction in Domestic Animals, Zuchthygiene
Bibhas Kar, Subbiah Sivamani, Shankar Kundavi, Thankam Rama Varma
BACKGROUND: Androgen insensitivity syndrome or testicular feminization syndrome is a rare X-linked recessive disorder, which encompasses a wide range of phenotypes that are caused by numerous different mutations in the androgen receptor gene. Complete androgen insensitivity syndrome occurs when the body cannot use androgens at all. People with this form of the condition have the external sex characteristics of females, but do not have a uterus and therefore do not menstruate and are unable to conceive a child (infertile)...
October 2016: Journal of Obstetrics and Gynaecology of India
Oriana Bonanno, Giulietta Romeo, Paola Asero, Franca Maria Pezzino, Roberto Castiglione, Nunziatina Burrello, Giuseppe Sidoti, Giovanni Vanni Frajese, Enzo Vicari, Rosario D'Agata
Severely low sperm motility is a frequent cause of infertility. This pathological condition is multifactorial. However, mechanisms underlying the development of this condition are not completely understood. Single abnormalities have been reported in sperms of patients with asthenozoospermia. In the present study, we characterized, in 22 normozoospermic men and in 37 patients with asthenozoospermia, biochemical, molecular, and genomic abnormalities that frequently occur in sperm of patients with asthenozoospermia...
September 20, 2016: Reproduction: the Official Journal of the Society for the Study of Fertility
Jianbing Liu, Chunling Shen, Weimin Fan, Yan Chen, Aijun Zhang, Yun Feng, Zheng Li, Ying Kuang, Zhugang Wang
PRSS37, a putative trypsin-like serine protease, is highly conserved during mammalian evolution as revealed by multiple sequence alignment. Mice deficient for Prss37 gene exhibit male infertility, but their mating behavior, spermatogenesis, sperm morphology, and motility remain unaffected, similar to a situation called unexplained male infertility (UMI) in men (human being). Here, we demonstrated that PRSS37 is restrictively expressed in human testis, where it is mainly located in the elongating and elongated spermatids during spermiogenesis as shown by immunohistochemical analysis of normal human testicular sections...
September 20, 2016: Acta Biochimica et Biophysica Sinica
Hirohito Shima, Shuichi Yatsuga, Akie Nakamura, Shinichiro Sano, Takako Sasaki, Noriyuki Katsumata, Erina Suzuki, Kenichiro Hata, Kazuhiko Nakabayashi, Yukihide Momozawa, Michiaki Kubo, Kohji Okamura, Shigeo Kure, Yoichi Matsubara, Tsutomu Ogata, Satoshi Narumi, Maki Fukami
NR0B1 is the causative gene for X-linked adrenal hypoplasia congenita, characterized by adrenal insufficiency, hypogonadotropic hypogonadism, and infertility. We identified an NR0B1 frameshift mutation in a boy with precocious puberty who had no signs of adrenal insufficiency. Blood examination revealed elevated testosterone levels and gonadotropin hyperresponses to gonadotropin releasing hormone (GnRH) stimulation, together with normal adrenal hormone levels. GnRH analog treatment partially ameliorated his clinical features...
2016: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
Meriem Baziz, Zohra Hamouli-Said, Ilham Ratbi, Mohamed Habel, Soukaina Guaoua, Aziza Sbiti, Abdelaziz Sefiani
BACKGROUND: In Algeria, the data on infertility and its various causes are rare. Recently, the introduction of assisted reproduction has allowed expecting that 300000 couples, which represent 7% of couples of reproductive age, face difficulty conceiving a child. Knowing that most idiopathic cases are likely to be due to chromosomal abnormalities, we aimed to investigate genetic defects by karyotype analysis in Algerian infertile men, using peripheral blood lymphocytes. METHODS: A cytogenetic study was conducted on 10 men from infertile couples by Karyotype analysis of R-banding performed by lymphocyte culture technique...
June 2016: Iranian Journal of Public Health
Xinqi Zhong, Yi-Zhou Jiang, Peiwen Liu, Wenzhi He, Zhongtang Xiong, Weijie Chang, Jiandong Zhu, Qiliang Cui
Assisted reproductive technology (ART) is widely used for the women with infertility conditions to achieve pregnancy. However, the adverse effects of ART may lead to poor perinatal and neonatal outcomes, e.g., preterm birth and low body weight. In this study, we investigated the inflammatory molecular factors and microRNA that might be involved in ART related preterm birth. We found the elevation of Toll-like 4 receptor (TLR4), activation of NFκB pathway and down-regulation of microRNA-146a (miR-146a), a negative regulator of NFκB, in the placenta of preterm birth and ART, indicating preterm birth and ART were associated with inflammation signaling activation...
September 12, 2016: Oncotarget
Jennifer Borgmann, Frank Tüttelmann, Bernd Dworniczak, Albrecht Röpke, Hye-Won Song, Sabine Kliesch, Miles F Wilkinson, Sandra Laurentino, Jörg Gromoll
The X-linked reproductive homeobox (RHOX) gene cluster encodes transcription factors preferentially expressed in reproductive tissues. This gene cluster has important roles in male fertility based on phenotypic defects of Rhox-mutant mice and the finding that aberrant RHOX promoter methylation is strongly associated with abnormal human sperm parameters. However, little is known about the molecular mechanism of RHOX function in humans. Using gene expression profiling, we identified genes regulated by members of the human RHOX gene cluster...
September 15, 2016: Human Molecular Genetics
Felipe A Navarrete, Antonio Alvau, Hoi Chang Lee, Lonny R Levin, Jochen Buck, Patricia Martin-De Leon, Celia M Santi, Dario Krapf, Jesse Mager, Rafael A Fissore, Ana M Salicioni, Alberto Darszon, Pablo E Visconti
Mammalian sperm acquire fertilizing capacity in the female tract in a process called capacitation. At the molecular level, capacitation requires protein kinase A activation, changes in membrane potential and an increase in intracellular calcium. Inhibition of these pathways results in loss of fertilizing ability in vivo and in vitro. We demonstrated that transient incubation of mouse sperm with Ca(2+) ionophore accelerated capacitation and rescued fertilizing capacity in sperm with inactivated PKA function...
2016: Scientific Reports
Bridget B Baker, Jeremiah S Yee, Danielle N Meyer, Doris Yang, Tracie R Baker
We have shown that zebrafish (Danio rerio) are an excellent model for evaluating the link between early life stage exposure to environmental chemicals and disease in adulthood and subsequent unexposed generations. Previously, we used this model to identify transgenerational effects of dioxin (2,3,7,8-tetrachlorodibenzo-p-dioxin [TCDD]) on skeletal development, sex ratio, and reproductive capacity. Transgenerational inheritance of TCDD toxicity, notably decreased reproductive capacity, appears to be mediated through the male germ line...
October 2016: Zebrafish
Yan Ouyang, Yueqiu Tan, Yan Yi, Fei Gong, Ge Lin, Xihong Li, Guangxiu Lu
STUDY QUESTION: Do early pregnancy losses (EPLs) with and without embryos differ in chromosomal distributions? SUMMARY ANSWER: The chromosomal abnormality rate is significantly higher in miscarriages with embryos than without after in vitro fertilization (IVF)-embryo transfer. WHAT IS KNOWN ALREADY: Chromosomal abnormalities are the main causes of EPLs, the rate of which is up to 24-30% in the IVF population. Little research has been conducted on the correlations between the chromosomal distributions of EPL and the existence of an embryo or with the postmortem embryonic pole length, and the existing results have been inconsistent...
October 2016: Human Reproduction
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