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molecular infertility

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https://www.readbyqxmd.com/read/29456554/compound-heterozygous-variants-in-the-coiled-coil-domain-containing-40-gene-in-a-chinese-family-with-primary-ciliary-dyskinesia-cause-extreme-phenotypic-diversity-in-cilia-ultrastructure
#1
Lin Yang, Santasree Banerjee, Jie Cao, Xiaohong Bai, Zhijun Peng, Haixia Chen, Hui Huang, Peng Han, Shunyu Feng, Na Yi, Xueru Song, Jing Wu
Purpose: Primary ciliary dyskinesia (PCD) is a rare genetic disorder manifested with recurrent infections of respiratory tract and infertility. Mutations in more than 20 genes including the Coiled-Coil Domain Containing 40 ( CCDC40 ) gene are associated with PCD. A Chinese proband with a clinical diagnosis of PCD was analyzed for mutations in these genes to identify the genetic basis of the disease in the family. The proband showed altered mucociliary clearance of the airways, various degree of hyperemia and edema of the mucous membrane, left/right body asymmetry, infertility and ultrastructural abnormality of cilia in both sperm and bronchioles...
2018: Frontiers in Genetics
https://www.readbyqxmd.com/read/29453813/association-between-two-common-transitions-of-h2bfwt-gene-and-male-infertility-a-case-control-meta-and-structural-analysis
#2
M Teimouri, H Najaran, A Hosseinzadeh, T Mazoochi
H2BFWT is one of the testis-specific histones that plays a fundamental role in spermatogenesis, and single nucleotide polymorphisms (SNPs) in this gene may result in male infertility. This study aimed to investigate the association between -9C>T and 368A>G transitions of H2BFWT gene and male infertility through a case-control, meta-analysis, and a bioinformatics approach. In this case-control study, 490 subjects including 240 idiopathic infertile men and 250 healthy controls were included. The -9C>T and 368A>G SNPs genotyping were performed by a PCR-RFLP method...
February 17, 2018: Andrology
https://www.readbyqxmd.com/read/29453575/regulation-of-blood-testis-barrier-btb-dynamics-role-of-actin-and-microtubule-based-cytoskeletons
#3
Qing Wen, Elizabeth I Tang, Nan Li, Dolores D Mruk, Will M Lee, Bruno Silvestrini, C Yan Cheng
The blood-testis barrier (BTB) is an important ultrastructure in the testis that supports meiosis and postmeiotic spermatid development since a delay in the establishment of a functional Sertoli cell barrier during postnatal development in rats or mice by 17-20 day postpartum (dpp) would lead to a delay of the first wave of meiosis. Furthermore, irreversible disruption of the BTB by toxicants also induces infertility in rodents. Herein, we summarize recent findings that BTB dynamics (i.e., disassembly, reassembly, and stabilization) are supported by the concerted efforts of the actin- and microtubule (MT)-based cytoskeletons...
2018: Methods in Molecular Biology
https://www.readbyqxmd.com/read/29443055/a-seminiferous-tubule-squash-technique-for-the-cytological-analysis-of-spermatogenesis-using-the-mouse-model
#4
Stephen R Wellard, Jessica Hopkins, Philip W Jordan
Meiotic progression in males is a process that requires the concerted action of a number of highly regulated cellular events. Errors occurring during meiosis can lead to infertility, pregnancy loss or genetic defects. Commencing at the onset of puberty and continuing throughout adulthood, continuous semi-synchronous waves of spermatocytes undergo spermatogenesis and ultimately form haploid sperm. The first wave of mouse spermatocytes undergoing meiotic initiation appear at day 10 post-partum (10 dpp) and are released into the lumen of seminiferous tubules as mature sperm at 35 dpp...
February 6, 2018: Journal of Visualized Experiments: JoVE
https://www.readbyqxmd.com/read/29441603/molecular-analysis-of-cag-repeat-length-of-the-androgen-receptor-gene-and-y-chromosome-microdeletions-among-jordanian-azoospermic-infertile-males
#5
O Batiha, S Haifawi, M Al-Smadi, G J Burghel, Z Naber, A M Elbetieha, K Bodoor, A Al Sumadi, S Swaidat, Y Jarun, A Abdelnour
Assisted reproductive technology is a common procedure which helps millions of couples who suffer fertility problems worldwide every year. Screening for genetic abnormalities prior to such procedure is very important to prevent the transmission of harmful genetic mutations to future generations. Microdeletions within the azoospermia factor (AZF) region of the Y chromosome and the expansion of the CAG trinucleotides in the androgen receptor (AR) gene are among the susceptible causes of male infertility in different ethnic groups...
February 14, 2018: Andrologia
https://www.readbyqxmd.com/read/29439729/application-of-neural-networks-for-classification-of-patau-edwards-down-turner-and-klinefelter-syndrome-based-on-first-trimester-maternal-serum-screening-data-ultrasonographic-findings-and-patient-demographics
#6
Aida Catic, Lejla Gurbeta, Amina Kurtovic-Kozaric, Senad Mehmedbasic, Almir Badnjevic
BACKGROUND: The usage of Artificial Neural Networks (ANNs) for genome-enabled classifications and establishing genome-phenotype correlations have been investigated more extensively over the past few years. The reason for this is that ANNs are good approximates of complex functions, so classification can be performed without the need for explicitly defined input-output model. This engineering tool can be applied for optimization of existing methods for disease/syndrome classification. Cytogenetic and molecular analyses are the most frequent tests used in prenatal diagnostic for the early detection of Turner, Klinefelter, Patau, Edwards and Down syndrome...
February 13, 2018: BMC Medical Genomics
https://www.readbyqxmd.com/read/29435117/replication-of-hepatitis-e-virus-in-the-ovary-and-promotion-of-oocyte-apoptosis-in-rabbits-infected-with-hev-4
#7
Junqing An, Tianlong Liu, Ruiping She, Qiaoxing Wu, Jijing Tian, Ruihan Shi, Wenzhuo Hao, Xinxin Ren, Yue Yang, Yiyao Lu, Yifei Yang, Yuanheng Wu
Hepatitis E virus (HEV) infection can induce infertility and miscarriage in pregnant women and infect neonates through vertical transmission. However, the mechanism of infertility and vertical transmission remains unclear. In the present study, we evaluated the replication of HEV in the ovary and structural and molecular changes induced by HEV after intraperitoneal injection of HEV in rabbits. Positive- and negative-strand HEV RNA was detected in the ovaries at 28 and 49 days post-infection. Positive HEV open reading frames 2 and 3 signals were observed in the ovaries by immunohistochemistry staining...
January 12, 2018: Oncotarget
https://www.readbyqxmd.com/read/29432538/acquisition-of-oocyte-competence-to-develop-as-an-embryo-integrated-nuclear-and-cytoplasmic-events
#8
Marco Conti, Federica Franciosi
Infertility affects ~7% of couples of reproductive age with little change in incidence in the last two decades. ART, as well as other interventions, have made major strides in correcting this condition. However, and in spite of advancements in the field, the age of the female partner remains a main factor for a successful outcome. A better understanding of the final stages of gamete maturation yielding an egg that can sustain embryo development and a pregnancy to term remains a major area for improvement in the field...
February 8, 2018: Human Reproduction Update
https://www.readbyqxmd.com/read/29430151/azoospermia-factor-c-subregion-of-the-y-chromosome
#9
REVIEW
Mili Nailwal, Jenabhai B Chauhan
The azoospermia factor (AZF) region on the Y chromosome consists of genes required for spermatogenesis. Among the three subregions, the AZFc subregion located at the distal portion of AZF is the driver for genetic variation in Y chromosome. The candidate gene of AZFc is known as deleted in azoospermia gene, which is studied with interest because it is involved in germ cell development and most frequently deleted genes leading to oligozoospermia and azoospermia. Recently, two partial deletions in AZFc gr/gr and b2/b3 are characterized at the molecular level which showed homologous recombination between amplicons, affecting spermatogenesis process...
October 2017: Journal of Human Reproductive Sciences
https://www.readbyqxmd.com/read/29420391/clinical-management-of-endometriosis
#10
Tommaso Falcone, Rebecca Flyckt
Endometriosis is a common and challenging condition of reproductive-aged women that carries a high individual and societal cost. The many molecular dissimilarities between endometriosis lesions and eutopic endometrium create difficulties in the development of new drug therapies and treatments. Surgery remains the gold standard for definitive diagnosis, but it must be weighed against the risks of surgical morbidity and potential decreases in ovarian reserve, especially in the case of endometriomas. Safe and effective surgical techniques are discussed within this article for various presentations of endometriosis...
February 5, 2018: Obstetrics and Gynecology
https://www.readbyqxmd.com/read/29417653/functional-proteomic-analysis-of-crossbred-holstein-friesian%C3%A2-%C3%A3-%C3%A2-sahiwal-bull-spermatozoa
#11
R Singh, G S Sengar, U Singh, R Deb, V Junghare, S Hazra, S Kumar, S Tyagi, A K Das, T V Raja, A Kumar
Male infertility is one of the prime concerns of dairy cattle production. The study was designed to find out differentially expressed proteins in categorized crossbred (Holstein Friesian × Sahiwal) bull semen to serve as potential biomarkers for male infertility. Frozen crossbred bull semen with satisfactory phenotypic records were defined as "good" and "poor" based on their fertility rates. A total of 1,547 proteins were detected in bull spermatozoa using liquid chromatography-mass spectrometer (LC-MS/MS) analysis...
February 7, 2018: Reproduction in Domestic Animals, Zuchthygiene
https://www.readbyqxmd.com/read/29411892/identification-of-novel-translocation-between-short-arm-of-chromosome-4-and-long-arm-of-chromosome-6-in-an-infertile-man-using-interphase-chromosome-profiling-icp
#12
S Kaul, H Kaur, S K S Vats, J Chawla, R Jindal, P Khetarpal
Conventional cytogenetics has always been a favourite to detect chromosomal aberrations. Carriers of chromosomal translocation are often phenotypically normal but are infertile. Couples are often advised to go for karyotyping, but culture failure or improper metaphase spread with poor banding often makes the analysis difficult. We report here a novel translocation between short arm of chromosome 4 and long arm of chromosome 6 in an infertile man using an advanced molecular cytogenetic technique of Interphase Chromosome Profiling (ICP)...
February 7, 2018: Andrologia
https://www.readbyqxmd.com/read/29404532/y-chromosome-microdeletions-frequency-in-idiopathic-azoospermia-oligoasthenozoospermia-and-oligospermia
#13
Delnya Gholami, Hamideh Jafari-Ghahfarokhi, Maryam Nemati-Dehkordi, Hossien Teimori
Background: Genetic factors are candidates for about 30% of male infertility with sperm production-related abnormalities. Y chromosome microdeletions are responsible for around 10% of male infertility. These microdeletions generally occur in azoospermia factor on the Yq. That is often associated with the quantitative reduction of sperm. Objective: The aim of this cross-sectional study was to determine the frequency of Yq microdeletions among idiopathic azoospermic, oligoasthenozoospermic, and oligospermic men in Shohada infertility center, Chaharmahal va Bakhtiari province...
November 2017: International Journal of Reproductive Biomedicine (Yazd, Iran)
https://www.readbyqxmd.com/read/29402772/ablation-of-the-mir-17-92-microrna-cluster-in-germ-cells-causes-subfertility-in-female-mice
#14
Jian Wang, Bo Xu, Geng G Tian, Tao Sun, Ji Wu
BACKGROUND/AIMS: Oogenesis is a highly complex process that is intricately regulated by interactions of multiple genes and signaling molecules. However, the underlying molecular mechanisms are poorly understood. There is emerging evidence that microRNAs contribute to oogenesis. Here, we aimed to investigate the role of miR-17-92 cluster in regulating oogenesis. METHODS: The miR-17-92 cluster was genetically ablated in germ cells of female mice by applying the Cre-loxp system for conditional gene knockout...
January 25, 2018: Cellular Physiology and Biochemistry
https://www.readbyqxmd.com/read/29376593/-association-of-polymorphism-of-gstt1-and-gstm1-genes-with-infertility-in-men
#15
N A Kurashova, E V Belyaeva, O A Ershova, B G Dashiev, T A Bairova, L I Kolesnikova
AIM: To identify the association between homozygous deletion genotypes of glutathione transferase genes GSTT1 (glutathione transferase theta 1), GSTM1 (glutathione S-transferase mu1) and infertility in Russian men. MATERIALS AND METHODS: The article presents a comparative analysis of the incidence of homozygous deletion genotypes of glutathione transferase genes GSTM1 and GSTT1 in Russian men with and without infertility. The study group comprised 160 infertile Russian men of reproductive age (mean age 30...
December 2017: Urologii︠a︡
https://www.readbyqxmd.com/read/29360780/effects-of-zearalenone-exposure-on-the-tgf-%C3%AE-1-smad3-signaling-pathway-and-the-expression-of-proliferation-or-apoptosis-related-genes-of-post-weaning-gilts
#16
Min Zhou, Lijie Yang, Minghui Shao, Yuxi Wang, Weiren Yang, Libo Huang, Xuemei Zhou, Shuzhen Jiang, Zaibin Yang
Zearalenone (ZEA) is an estrogenic toxin produced by Fusarium species, which is widely distributed and posed a great health risk to both humans and farm animals. Reproductive disorders associated with ZEA such as premature puberty, infertility and abortion have plagued the animal husbandry, but the molecular mechanism is unclear. Because transforming growth factor-β1 (TGF-β1) signaling pathway is involved in the proliferation and apoptosis of cells, proliferating cell nuclear antigen (PCNA), B-cell lymphoma/leukemia-2 (BCL-2) and BCL-2 associated X protein (BAX) that all play indispensable roles in the normal development of the uterus, it is hypothesized that ZEA induces reproductive disorders is closely related to the expression of these genes...
January 23, 2018: Toxins
https://www.readbyqxmd.com/read/29359200/a-review-of-mechanisms-of-implantation
#17
REVIEW
Su-Mi Kim, Jong-Soo Kim
Implantation is a highly organized process that involves an interaction between a receptive uterus and a competent blastocyst. In humans, natural fecundity suggests that the chance of conception per cycle is relatively low (~30%) and two-third of lost pregnancies occur because of implantation failure. Defective implantation leads to adverse pregnancy outcomes including infertility, spontaneous miscarriage, intrauterine fetal growth restriction and preeclampsia. With use of advanced scientific technologies, gene expression analysis and genetically-engineered animal models have revealed critical cellular networks and molecular pathways...
December 2017: Balsaeng'gwa Saengsig
https://www.readbyqxmd.com/read/29342242/meiotic-spindle-formation-in-mammalian-oocytes-implications-for-human-infertility
#18
Suk Namgoong, Nam-Hyung Kim
In the final stage of oogenesis, mammalian oocytes generate a meiotic spindle and undergo chromosome segregation to yield an egg that is ready for fertilization. Herein, we describe the recent advances in understanding the mechanisms controlling formation of the meiotic spindle in metaphase I (MI) and metaphase II (MII) in mammalian oocytes, and focus on the differences between mouse and human oocytes. Unlike mitotic cells, mammalian oocytes lack typical centrosomes that consist of two centrioles and the surrounding pericentriolar matrix proteins (PCM), which serve as microtubule-organizing centers (MTOCs) in most somatic cells...
January 12, 2018: Biology of Reproduction
https://www.readbyqxmd.com/read/29342173/hormone-induced-differential-transcriptome-analysis-of-sertoli-cells-during-postnatal-maturation-of-rat-testes
#19
Mukesh Gautam, Indrashis Bhattacharya, Umesh Rai, Subeer S Majumdar
Sertoli cells (Sc) are unique somatic cells of testis that are the target of both FSH and testosterone (T) and regulate spermatogenesis. Although Sc of neonatal rat testes are exposed to high levels of FSH and T, robust differentiation of spermatogonial cells becomes conspicuous only after 11-days of postnatal age. We have demonstrated earlier that a developmental switch in terms of hormonal responsiveness occurs in rat Sc at around 12 days of postnatal age during the rapid transition of spermatogonia A to B...
2018: PloS One
https://www.readbyqxmd.com/read/29340252/positive-selection-on-human-gamete-recognition-genes
#20
Michael W Hart, Daryn A Stover, Vanessa Guerra, Sahar V Mozaffari, Carole Ober, Carina F Mugal, Ingemar Kaj
Coevolution of genes that encode interacting proteins expressed on the surfaces of sperm and eggs can lead to variation in reproductive compatibility between mates and reproductive isolation between members of different species. Previous studies in mice and other mammals have focused in particular on evidence for positive or diversifying selection that shapes the evolution of genes that encode sperm-binding proteins expressed in the egg coat or zona pellucida (ZP). By fitting phylogenetic models of codon evolution to data from the 1000 Genomes Project, we identified candidate sites evolving under diversifying selection in the human genes ZP3 and ZP2...
2018: PeerJ
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