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https://www.readbyqxmd.com/read/29033599/primary-ciliary-dyskinesia-mechanisms-and-management
#1
REVIEW
Nadirah Damseh, Nada Quercia, Nisreen Rumman, Sharon D Dell, Raymond H Kim
Primary ciliary dyskinesia is a genetically heterogeneous disorder of motile cilia that is predominantly inherited in an autosomal-recessive fashion. It is associated with abnormal ciliary structure and/or function leading to chronic upper and lower respiratory tract infections, male infertility, and situs inversus. The estimated prevalence of primary ciliary dyskinesia is approximately one in 10,000-40,000 live births. Diagnosis depends on clinical presentation, nasal nitric oxide, high-speed video-microscopy analysis, transmission electron microscopy, genetic testing, and immunofluorescence...
2017: Application of Clinical Genetics
https://www.readbyqxmd.com/read/29029020/the-endometrial-polarity-paradox-differential-regulation-of-polarity-within-secretory-phase-human-endometrium
#2
Sarah Whitby, Lois A Salamonsen, Jemma Evans
A major cause of infertility in normal and assisted reproduction cycles is failure of the endometrium to undergo appropriate changes during the secretory phase of the menstrual cycle as it acquires receptivity for an implanting blastocyst. Current dogma states that loss of epithelial polarity in the luminal epithelial cells, the point of first contact between maternal endometrium and blastocyst, may facilitate embryo implantation. Loss of polarity is likely an important change during the secretory phase to overcome mutual repulsion between otherwise polarised epithelial surfaces...
September 29, 2017: Endocrinology
https://www.readbyqxmd.com/read/29025019/differing-molecular-response-of-young-and-advanced-maternal-age-human-oocytes-to-ivm
#3
J M Reyes, E Silva, J L Chitwood, W B Schoolcraft, R L Krisher, P J Ross
STUDY QUESTION: What effect does maternal age have on the human oocyte's molecular response to in vitro oocyte maturation? SUMMARY ANSWER: Although polyadenylated transcript abundance is similar between young and advanced maternal age (AMA) germinal vesicle (GV) oocytes, metaphase II (MII) oocytes exhibit a divergent transcriptome resulting from a differential response to in vitro oocyte maturation. WHAT IS KNOWN ALREADY: Microarray studies considering maternal age or maturation stage have shown that either of these factors will affect oocyte polyadenylated transcript abundance in human oocytes...
September 15, 2017: Human Reproduction
https://www.readbyqxmd.com/read/29021707/pectinase-treated-panax-ginseng-protects-against-chronic-intermittent-heat-stress-induced-testicular-damage-by-modulating-hormonal-and-spermatogenesis-related-molecular-expression-in-rats
#4
Spandana Rajendra Kopalli, Kyu-Min Cha, Sang-Ho Lee, Ji-Hoon Ryu, Seock-Yeon Hwang, Min-Sik Jeong, Jong-Hwan Sung, Si-Kwan Kim
BACKGROUND: Elevated testicular temperature disrupts spermatogenesis and causes infertility. In the present study, the protective effect of enzymatically biotransformed Panax ginseng Meyer by pectinase (GINST) against chronic intermittent heat stress-induced testicular damage in rats was investigated. METHODS: Male Sprague-Dawley rats (4 wk old, 60-70 g) were divided into four groups: normal control (NC), heat-stress control (HC), heat-stress plus GINST-100 mg/kg (HG100), and heat-stress plus GINST-200 mg/kg (HG200) treatment groups...
October 2017: Journal of Ginseng Research
https://www.readbyqxmd.com/read/29017720/insights-into-the-molecular-roles-of-zika-virus-in-human-reproductive-complications-and-congenital-neuropathologies
#5
REVIEW
Rajendra Gharbaran, Latchman Somenarain
The recent upsurge in the association of congenital neurological disorders and infection by the Zika virus (ZIKV) has resulted in increased research focus on the biology of this flavivirus. Studies in animal models indicate that ZIKV can breach the placental barrier and selectively infect and deplete neuroprogenitor cells (NPCs) of the developing fetus, resulting in changes of brain structures, reminiscent of human microcephaly. In vitro and ex vivo studies using human cells and tissues showed that human NPCs and placental cells are targeted by ZIKV...
October 7, 2017: Pathology
https://www.readbyqxmd.com/read/29016666/novel-genes-and-mutations-in-patients-affected-by-recurrent-pregnancy-loss
#6
Paula Quintero-Ronderos, Eric Mercier, Michiko Fukuda, Ronald González, Carlos Fernando Suárez, Manuel Alfonso Patarroyo, Daniel Vaiman, Jean-Christophe Gris, Paul Laissue
Recurrent pregnancy loss is a frequently occurring human infertility-related disease affecting ~1% of women. It has been estimated that the cause remains unexplained in >50% cases which strongly suggests that genetic factors may contribute towards the phenotype. Concerning its molecular aetiology numerous studies have had limited success in identifying the disease's genetic causes. This might have been due to the fact that hundreds of genes are involved in each physiological step necessary for guaranteeing reproductive success in mammals...
2017: PloS One
https://www.readbyqxmd.com/read/28987005/hybrid-asexuality-as-a-primary-postzygotic-barrier-between-nascent-species-on-the-interconnection-between-asexuality-hybridization-and-speciation
#7
Karel Janko, Jan Pačes, Hilde Wilkinson-Herbots, Rui J Costa, Jan Roslein, Pavel Drozd, Nataliia Iakovenko, Jakub Rídl, Miluše Hroudová, Jan Kočí, Radka Reifová, Věra Šlechtová, Lukáš Choleva
Although sexual reproduction is ubiquitous throughout nature, the molecular machinery behind it has been repeatedly disrupted during evolution, leading to the emergence of asexual lineages in all eukaryotic phyla. Despite intensive research, little is known about what causes the switch from sexual reproduction to asexuality. Interspecific hybridization is one of the candidate explanations but the reasons for the apparent association between hybridization and asexuality remain unclear. In this study we combined cross-breeding experiments with population genetic and phylogenomic approaches to reveal the history of speciation and asexuality evolution in European spined loaches (Cobitis)...
October 7, 2017: Molecular Ecology
https://www.readbyqxmd.com/read/28973719/identification-of-differentially-expressed-genes-in-pathways-of-cerebral-neurotransmission-of-anovulatory-mice
#8
M A Azevedo, I D C G Silva
Polycystic ovary syndrome is the classic example of loss of functional cyclicity and anomalous feedback. In this case, the excessive extra-glandular production and conversion of androgens to estrogens are the pathophysiological basis of the chronic anovulation. The literature describes an experimental model of the polymicrocystic ovary in obese diabetic mice with insulin resistance. The fact that these animals exhibit obesity, insulin resistance, and infertility demonstrates their skill as an experimental model for polycystic ovary...
September 27, 2017: Genetics and Molecular Research: GMR
https://www.readbyqxmd.com/read/28969006/the-molecular-characterization-of-porcine-egg-precursor-cells
#9
Te-Sha Tsai, Jacqueline Johnson, Yvonne White, Justin C John
Female-factor infertility can be caused by poor oocyte quality and depleted ovarian reserves. Egg precursor cells (EPCs), isolated from the ovarian cortex, have the potential to be used to overcome female infertility. We aimed to define the origins of EPCs by analyzing their gene expression profiles and mtDNA content using a mini-pig model. We characterized FAC-sorted DDX4(+)-derived porcine EPCs by performing RNA-sequencing and determined that they utilize pathways important for cell cycle and proliferation, which supports the existence of adult mitotically active oogonial cells...
September 8, 2017: Oncotarget
https://www.readbyqxmd.com/read/28965844/female-infertility-caused-by-mutations-in-the-oocyte-specific-translational-repressor-patl2
#10
Sateesh Maddirevula, Serdar Coskun, Saad Alhassan, Atif Elnour, Hessa S Alsaif, Niema Ibrahim, Firdous Abdulwahab, Stefan T Arold, Fowzan S Alkuraya
Infertility is a relatively common disorder of the reproductive system and remains unexplained in many cases. In vitro fertilization techniques have uncovered previously unrecognized infertility phenotypes, including oocyte maturation arrest, the molecular etiology of which remains largely unknown. We report two families affected by female-limited infertility caused by oocyte maturation failure. Positional mapping and whole-exome sequencing revealed two homozygous, likely deleterious variants in PATL2, each of which fully segregates with the phenotype within the respective family...
October 5, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28955201/fragile-x-associated-diminished-ovarian-reserve-and-primary-ovarian-insufficiency-from-molecular-mechanisms-to-clinical-manifestations
#11
REVIEW
Limor Man, Jovana Lekovich, Zev Rosenwaks, Jeannine Gerhardt
Fragile X syndrome (FXS), is caused by a loss-of-function mutation in the FMR1 gene located on the X-chromosome, which leads to the most common cause of inherited intellectual disability in males and the leading single-gene defect associated with autism. A full mutation (FM) is represented by more than 200 CGG repeats within the FMR1 gene, resulting in FXS. A FM is inherited from women carrying a FM or a premutation (PM; 55-200 CGG repeats) allele. PM is associated with phenotypes distinct from those associated with FM...
2017: Frontiers in Molecular Neuroscience
https://www.readbyqxmd.com/read/28950833/alphavbeta3-integrin-expression-within-uterine-endometrium-in-unexplained-infertility-a-prospective-cohort-study
#12
Ahmed Elnaggar, Amr H Farag, Mohamed E Gaber, Mohamed Abdel Hafeez, Mohamed S Ali, Alaa M Atef
BACKGROUND: Implantation defect is one of these contributing factors for unexplained infertility. In the mid-luteal phase, when implantation is expected to happen, Integrins expression is remarkably increased. So, Integrins could potentially serve as markers for the frame of the window of implantation. αVβ3 integrin could have a role as a potential receptor for embryonic attachment. The aim of the current study is to investigate whether the women with unexplained infertility have a pattern of expression of endometrial αvβ3 integrin that could differ from those who have normal fertility or not...
September 26, 2017: BMC Women's Health
https://www.readbyqxmd.com/read/28919691/molecular-etiopathology-of-naturally-occurring-reproductive-diseases-in-female-goats
#13
V Beena, R V S Pawaiya, K Gururaj, D D Singh, A K Mishra, N K Gangwar, V K Gupta, R Singh, A K Sharma, M Karikalan, Ashok Kumar
AIM: The aim of the present study was to investigate the molecular etiopathology of occurrence of reproductive diseases in female goats. Reproductive diseases in goats account for major economic losses to goat farmers in terms of valuable loss of offspring and animal productivity. MATERIALS AND METHODS: A total of 660 female genitalia were examined for pathological conditions (macroscopic and microscopic lesions). The etiopathological study was carried out for the presence of pathogenic organisms such as Brucella, Chlamydia, and Campylobacter in the uterus and ovary...
August 2017: Veterinary World
https://www.readbyqxmd.com/read/28911212/apposition-to-endometrial-epithelial-cells-activates-mouse-blastocysts-for-implantation
#14
Peter T Ruane, Stéphane C Berneau, Rebekka Koeck, Jessica Watts, Susan J Kimber, Daniel R Brison, Melissa Westwood, John D Aplin
STUDY QUESTION: How do interactions between blastocyst-stage embryos and endometrial epithelial cells regulate the early stages of implantation in an in vitro model? SUMMARY ANSWER: Mouse blastocyst apposition with human endometrial epithelial cells initiates trophectoderm differentiation to trophoblast, which goes on to breach the endometrial epithelium. WHAT IS KNOWN ALREADY: In vitro models using mouse blastocysts and human endometrial cell lines have proven invaluable in the molecular characterisation of embryo attachment to endometrial epithelium at the onset of implantation...
September 1, 2017: Molecular Human Reproduction
https://www.readbyqxmd.com/read/28886318/new-insights-into-the-expression-profile-of-microrna-34c-and-p53-in-infertile-men-spermatozoa-and-testicular-tissue
#15
S Rahbar, M G Novin, E Alizadeh, V Shahnazi, F Pashaei-Asl, Y A AsrBadr, L Farzadi, E Ebrahimie, M Pashaiasl
Spermatogenesis is proliferation and differentiation processes of stem spermatogonia into mature spermatozoa controlled by the genes responsible for transcription and post transcription levels. MicroRNAs (miRNA) are  the key factors during gene expression in RNA silencing and post-transcriptional regulation. They play main roles in regulation of early and late spermatogenesis, and reproduction. In this study, we investigate the role of miRNAs in infertile males.The patients were assigned to five groups based on semen analysis (n=55), including normozoospermic (N), moderate oligoasthenoteratozoospermic (MOAT), severe oligoasthenoteratozoospermic (SOAT), obstructive azoospermia (OA) and non-obstructive azoospermia (NOA)...
August 30, 2017: Cellular and Molecular Biology
https://www.readbyqxmd.com/read/28864986/the-role-of-maternal-nutrition-during-the-periconceptional-period-and-its-effect-on-offspring-phenotype
#16
Tom P Fleming, Judith J Eckert, Oleg Denisenko
The early preimplantation embryo has been rigorously studied for decades to understand inherent reproductive and developmental mechanisms driving its morphogenesis from before fertilisation through to and beyond implantation. Recent research has demonstrated that this short developmental window is also critical for the embryo's interaction with external, maternal factors, particularly nutritional status. Here, maternal dietary quality has been shown to alter the pattern of development in an enduring way that can influence health throughout the lifetime...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/28853925/sex-determination-in-the-mammalian-germline
#17
Cassy Spiller, Peter Koopman, Josephine Bowles
Sexual reproduction crucially depends on the production of sperm in males and oocytes in females. Both types of gamete arise from the same precursor, the germ cells. We review the events that characterize the development of germ cells during fetal life as they commit to, and prepare for, oogenesis or spermatogenesis. In females, fetal germ cells enter meiosis, whereas in males they delay meiosis and instead lose pluripotency, activate an irreversible program of prospermatogonial differentiation, and temporarily cease dividing...
August 30, 2017: Annual Review of Genetics
https://www.readbyqxmd.com/read/28843117/identification-of-endocrine-active-disinfection-by-products-dbps-that-bind-to-the-androgen-receptor
#18
Breanne E Holmes, Lisa Smeester, Rebecca C Fry, Howard S Weinberg
The formation of disinfection by-products (DBPs) in drinking water occurs when chemical disinfectants such as chlorine and chloramine react with natural organic matter and anthropogenic pollutants. Some DBPs have been linked to bladder cancer and infertility; however, the underlying mechanism of action is unknown. One possibility is disruption of the endocrine system, with DBPs binding to the androgen receptor and subsequently altering gene expression. Using the androgen receptor-binding assay and in silico molecular docking, the binding affinity of 21 suspected and known DBPs were tested individually at concentrations over the range 0...
August 22, 2017: Chemosphere
https://www.readbyqxmd.com/read/28838077/the-unique-microbiology-and-molecular-pathogenesis-of-mycoplasma-genitalium
#19
REVIEW
Chris L McGowin, Patricia A Totten
Mycoplasma genitalium is increasingly appreciated as a common cause of sexually transmitted disease syndromes, including urethritis in men and cervicitis, endometritis, pelvic inflammatory disease, and possibly preterm birth, tubal factor infertility, and ectopic pregnancy in women. Despite these disease associations, which parallel those of Chlamydia trachomatis and Neisseria gonorrhoeae, the mechanisms by which this pathogen elicits inflammation, causes cellular damage, and persists in its only natural host (humans) are unique and are not fully understood...
July 15, 2017: Journal of Infectious Diseases
https://www.readbyqxmd.com/read/28836280/molecular-characterisation-of-a-case-of-dicentric-y-presented-as-nonobstructive-azoospermia-with-testicular-early-maturation-arrest
#20
P Kumar, M Jain, A K Kalsi, A Halder
The dicentric Y chromosome is the most common cytogenetically visible structural abnormality of Y chromosome. The sites of break and fusion of dicentric Y are variable, but break and fusion at Yq12 (proximal to the pseudoautosomal region 2/PAR 2) is very rare. Dicentric Y chromosome is unstable during cell division and likely to generate chromosomal mosaicism. Here, we report a case of infertile male with nonmosaic 46,XY where chromosome Y was dicentric with break and fusion at Yq12 (proximal to PAR 2). Clinical presentation of the case was nonobstructive azoospermia due to early maturation arrest at the primary spermatocyte stage...
August 24, 2017: Andrologia
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