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molecular infertility

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https://www.readbyqxmd.com/read/28212592/novel-insights-into-gonadotropin-releasing-hormone-action-in-the-pituitary-gonadotrope
#1
Jessica L Brown, Mark Roberson
The hypothalamic-pituitary-gonadal axis controls reproduction via a series of hormones regulating gonadal function through interconnected feedback loops. Secretion of hypothalamic-derived gonadotropin-releasing hormone (GnRH) integrates inputs from higher brain centers to coordinate the activity of the pituitary gonadotrope and the biosynthesis and secretion of the gonadotropins which ultimately regulate gonadal function. Failure of GnRH to serve as the central integrator of this system has been associated with hypogonadotropic-hypogonadism and clinical infertility, while pharmacological application of GnRH analogs and gonadotropins have important implications of the treatment of such infertility...
February 17, 2017: Seminars in Reproductive Medicine
https://www.readbyqxmd.com/read/28196530/r248g-cystic-fibrosis-transmembrane-conductance-regulator-mutation-in-three-siblings-presenting-with-recurrent-acute-pancreatitis-and-reproductive-issues-a-case-series
#2
Seiichi Villalona, Guillermo Glover-López, Juan Antonio Ortega-García, Rosa Moya-Quiles, Pedro Mondejar-López, Maria C Martínez-Romero, Mariano Rigabert-Montiel, María D Pastor-Vivero, Manuel Sánchez-Solís
BACKGROUND: Mutational combinations of the cystic fibrosis transmembrane conductance regulator, CFTR, gene have different phenotypic manifestations at the molecular level with varying clinical consequences for individuals possessing such mutations. Reporting cystic fibrosis transmembrane conductance regulator mutations is important in understanding the genotype-phenotype correlations and associated clinical presentations in patients with cystic fibrosis. Understanding the effects of mutations is critical in developing appropriate treatments for individuals affected with cystic fibrosis, non-classic cystic fibrosis, or cystic fibrosis transmembrane conductance regulator-related disorders...
February 15, 2017: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/28179013/reac-technology-as-optimizer-of-stallion-spermatozoa-liquid-storage
#3
Fiammetta Berlinguer, Valeria Pasciu, Sara Succu, Ignazio Cossu, Sabrina Caggiu, Daniela Addis, Alessandro Castagna, Vania Fontani, Salvatore Rinaldi, Eraldo Sanna Passino
BACKGROUND: REAC technology (acronym for Radio Electric Asymmetric Conveyor) is a technology platform for neuro and bio modulation. It has already proven to optimize the ions fluxes at the molecular level and the molecular mechanisms driving cellular asymmetry and polarization. METHODS: This study was designed to verify whether this technology could extend spermatozoa life-span during liquid storage, while preserving their functions, DNA integrity and oxidative status...
February 8, 2017: Reproductive Biology and Endocrinology: RB&E
https://www.readbyqxmd.com/read/28148903/elevated-nf-%C3%AE%C2%BAb-signaling-in-asherman-syndrome-patients-and-animal-models
#4
Xiangzhen Wang, Nana Ma, Qiannan Sun, Chenlingzi Huang, Yanmei Liu, Xin Luo
Asherman syndrome (intrauterine adhesion) is often associated with menstrual abnormalities, infertility and recurrent miscarriage in female. Currently the molecular mechanism regulating the pathogenesis of Asherman syndrome is not known. Here we revealed that the inflammatory factor NF-κB expression is significantly elevated in the endometrial samples of Asherman syndrome patients. To further study the molecular mechanisms, we established an Asherman syndrome rat model and confirmed the important role of NF-κB in the pathogenesis of Asherman syndrome...
January 27, 2017: Oncotarget
https://www.readbyqxmd.com/read/28120211/molecular-effect-of-human-umbilical-cord-blood-cd34-positive-and-cd34-negative-stem-cells-and-their-conjugate-in-azoospermic-mice
#5
Somia H Abd Allah, Heba F Pasha, Abeer A Abdelrahman, Nehad F Mazen
Currently, azoospermia is one of the most common diseases of male infertility. Stem cell research is the new hope for novel therapy with a higher degree of safety and lower cost. This study aimed to investigate the effect of umbilical cord blood-derived stem cells (" and mesenchymal "UCB-MSCs") and mono-cell layer implanted into the induced azoospermic mice testis. Stem cells were isolated from umbilical cord blood and CD34+ve cells were separated from negative one by Mini MACs column. At 5th week after single injection of busulfan, stained mesenchymal (CD34-ve), hematopoietic stem cells (CD34+ve) and their conjugate (mono-cell layer) were injected locally into testis...
January 24, 2017: Molecular and Cellular Biochemistry
https://www.readbyqxmd.com/read/28106288/nuclear-inositide-signaling-via-phospholipase-c
#6
Stefano Ratti, Sara Mongiorgi, Giulia Ramazzotti, Matilde Y Follo, Giulia A Mariani, Pann-Ghill Suh, James A McCubrey, Lucio Cocco, Lucia Manzoli
The existence of an independent nuclear inositide pathway distinct from the cytoplasmic one has been demonstrated in different physiological systems and in diseases. In this prospect we analyze the role of PI-PLCβ1 nuclear isoform in relation to the cell cycle regulation, the cell differentiation and different physiopathological pathways focusing on the importance of the nuclear localization from both molecular and clinical point of view. PI-PLCβ1 is essential for G1/S transition through DAG and Cyclin D3 and plays also a central role in G2/M progression through Cyclin B1 and PKCα...
January 20, 2017: Journal of Cellular Biochemistry
https://www.readbyqxmd.com/read/28098238/expression-of-the-novel-maternal-centrosome-assembly-factor-wdr8-is-required-for-vertebrate-embryonic-mitoses
#7
Daigo Inoue, Manuel Stemmer, Thomas Thumberger, Thomas Ruppert, Felix Bärenz, Joachim Wittbrodt, Oliver J Gruss
The assembly of the first centrosome occurs upon fertilisation when male centrioles recruit pericentriolar material (PCM) from the egg cytoplasm. The mechanisms underlying the proper assembly of centrosomes during early embryogenesis remain obscure. We identify Wdr8 as a novel maternally essential protein that is required for centrosome assembly during embryonic mitoses of medaka (Oryzias latipes). By CRISPR-Cas9-mediated knockout, maternal/zygotic Wdr8-null (m/zWdr8(-/-)) blastomeres exhibit severe defects in centrosome structure that lead to asymmetric division, multipolar mitotic spindles and chromosome alignment errors...
January 18, 2017: Nature Communications
https://www.readbyqxmd.com/read/28093975/molecular-modeling-and-dynamics-simulation-analysis-of-katnal1-for-identification-of-novel-inhibitor-of-sperm-maturation
#8
Kishore Sarma, Shubhadeep Roychoudhury, Sudipta Sankar Bora, Budheswar Dehury, Pratap Parida, Saurav Das, Robin Das, Chandrajit Dohutia, Sangeeta Nath, Bibhas Deb, Mahendra K Modi
Rapid growth of world population is one of the biggest challenges faced by the human race. Hormone based birth control often causes various side effects, as such development of non-hormonal based contraceptives is the need of the hour. A recent study revealed that temporary infertility without changing hormone levels can be attained by inhibiting Katanin p60 ATPase-containing subunit A-like 1 protein (KATNAL1) which is critical in sperm maturation in the testes. This study revealed that, KATNAL1 is a soluble protein retained in the cytoplasm having molecular weight of 55,392 Dalton...
January 16, 2017: Combinatorial Chemistry & High Throughput Screening
https://www.readbyqxmd.com/read/28093458/single-cell-gene-expression-analysis-reveals-diversity-among-human-spermatogonia
#9
N Neuhaus, J Yoon, N Terwort, S Kliesch, J Seggewiss, A Huge, R Voss, S Schlatt, R V Grindberg, H R Schöler
STUDY QUESTION: Is the molecular profile of human spermatogonia homogeneous or heterogeneous when analysed at the single-cell level? SUMMARY ANSWER: Heterogeneous expression profiles may be a key characteristic of human spermatogonia, supporting the existence of a heterogeneous stem cell population. WHAT IS KNOWN ALREADY: Despite the fact that many studies have sought to identify specific markers for human spermatogonia, the molecular fingerprint of these cells remains hitherto unknown...
January 15, 2017: Molecular Human Reproduction
https://www.readbyqxmd.com/read/28089975/in-vitro-fertilization-in-37-women-with-systemic-lupus-erythematosus-or-antiphospholipid-syndrome-a-series-of-97-procedures
#10
Pauline Orquevaux, Agathe Masseau, Véronique Le Guern, Vanessa Gayet, Danièle Vauthier, Gaelle Guettrot-Imbert, Du Le Thi Huong, Bertrand Wechsler, Nathalie Morel, Patrice Cacoub, Jean-Loup Pennaforte, Jean-Charles Piette, Nathalie Costedoat-Chalumeau
OBJECTIVE: To compile and assess data about complication and success rates for in vitro fertilization (IVF) of women with systemic lupus erythematosus (SLE) and/or antiphospholipid syndrome (APS). To date, such data are sparse. METHODS: This retrospective study described women with SLE and/or APS who have had at least 1 IVF cycle. RESULTS: Thirty-seven women with SLE (n = 23, including 8 with antiphospholipid antibodies), SLE with APS (n = 4), or primary APS (n = 10) underwent 97 IVF procedures...
January 15, 2017: Journal of Rheumatology
https://www.readbyqxmd.com/read/28068922/functional-changes-in-mrna-expression-and-alternative-pre-mrna-splicing-associated-with-the-effects-of-nutrition-on-apoptosis-and-spermatogenesis-in-the-adult-testis
#11
Yongjuan Guan, Guanxiang Liang, Graeme B Martin, Le Luo Guan
BACKGROUND: The effects of nutrition on testis mass in the sexually mature male have long been known, however, the cellular and molecular processes of the testis response to nutrition was not fully understood. METHODS: We tested whether the defects in spermatogenesis and increases in germ cell apoptosis in the testis that are induced by under-nutrition are associated with changes in mRNA expression and pre-mRNA alternative splicing using groups of 8 male sheep fed for a 10% increase or 10% decrease in body mass over 65 days...
January 10, 2017: BMC Genomics
https://www.readbyqxmd.com/read/28055014/globozoospermia-and-lack-of-acrosome-formation-in-gm130-deficient-mice
#12
Feng Han, Chunyi Liu, Lianjun Zhang, Min Chen, Yang Zhou, Yan Qin, Yaqing Wang, Min Chen, Shuguang Duo, Xiuhong Cui, Shilai Bao, Fei Gao
Globozoospermia is a common reproductive disorder that causes male infertility in humans, and the malformation or loss of acrosomes is the prominent feature of this disease. Although the acrosome is thought to be derived from the Golgi apparatus, the detailed molecular mechanisms remain unclear. GM130 is a cis-side localized Golgi matrix protein,whereas the physiological functions of this protein remain elusive. Here we showed that inactivation of GM130-caused male infertility in mouse model. The primary defects were the absence of acrosomes, round sperm heads, and aberrant assembly of the mitochondrial sheath, which comprise the characteristic features of human globozoospermia...
January 5, 2017: Cell Death & Disease
https://www.readbyqxmd.com/read/28052027/estrogen-receptor-%C3%AE-ligation-inhibits-hodgkin-lymphoma-growth-by-inducing-autophagy
#13
Marina Pierdominici, Angela Maselli, Silvia L Locatelli, Laura Ciarlo, Giuseppa Careddu, Mario Patrizio, Barbara Ascione, Antonella Tinari, Carmelo Carlo-Stella, Walter Malorni, Paola Matarrese, Elena Ortona
Although Hodgkin lymphoma (HL) is curable with current therapy, at least 20% of patients relapse or fail to make complete remission. In addition, patients who achieve long-term disease-free survival frequently undergo infertility, secondary malignancies, and cardiac failure, which are related to chemotherapeutic agents and radiation therapies. Hence, new therapeutic strategies able to counteract the HL disease in this important patient population are still a matter of study. Estrogens, in particular 17β-estradiol (E2), have been suggested to play a role in lymphoma cell homeostasis by estrogen receptors (ER) β activation...
January 31, 2017: Oncotarget
https://www.readbyqxmd.com/read/28032143/an-evidence-based-review-of-the-genotoxic-and-reproductive-effects-of-sulfur-mustard
#14
REVIEW
Fazlullah Khan, Kamal Niaz, Fatima Ismail Hassan, Mohammad Abdollahi
Sulfur mustard (SM) is a chemical warfare agent which is cytotoxic in nature, and at the molecular level, SM acts as DNA alkylating agent leading to genotoxic and reproductive effects. Mostly, the exposed areas of the body are the main targets for SM; however, it also adversely affects various tissues of the body and ultimately exhibits long-term complications including genotoxic and reproductive effects, even in the next generations. The effect of SM on reproductive system is the reason behind male infertility...
December 28, 2016: Archives of Toxicology
https://www.readbyqxmd.com/read/28030592/a-novel-missense-mutation-224g-t-r75m-in-sry-coding-region-interferes-with-nuclear-import-and-results-in-46-xy-complete-gonadal-dysgenesis
#15
Wufang Fan, Bei Wang, Shanshan He, Tengfei Zhang, Chenxing Yin, Yunping Chen, Shuqi Zheng, Jixia Zhang, Lin Li
SRY-mutation-caused sex reversal is a rare disease and mostly associated with a de novo mutation since the patients with defective SRY is infertile. There are many reports about SRY-mutation associated 46, XY ovarian disorder of sex development (DSD), but few described their molecular mechanism. Here we report a de novo mutation 224G>T (R75M) in SRY associated with a phenotypic female, 46, XY karyotype and dysgerminoma. The wild and mutated SRY were cloned into recombinant plasmid and expressed in cells in vitro, the result showed the mutated SRY is greatly accumulated in cytoplasm while the wild type SRY is mostly localized in nucleus...
2016: PloS One
https://www.readbyqxmd.com/read/28008940/deficiency-of-mkrn2-causes-abnormal-spermiogenesis-and-spermiation-and-impairs-male-fertility
#16
Xu Qian, Lin Wang, Bo Zheng, Zhu-Mei Shi, Xin Ge, Cheng-Fei Jiang, Ying-Chen Qian, Dong-Mei Li, Wei Li, Xue Liu, Yu Yin, Ji-Tai Zheng, Hua Shen, Min Wang, Xue-Jiang Guo, Jun He, Marie Lin, Ling-Zhi Liu, Jia-Hao Sha, Bing-Hua Jiang
Although recent studies have shed insights on some of the potential causes of male infertility, new underlining molecular mechanisms still remain to be elucidated. Makorin-2 (Mkrn2) is an evolutionarily conserved gene whose biological functions are not fully known. We developed an Mrkn2 knockout mouse model to study the role of this gene, and found that deletion of Mkrn2 in mice led to male infertility. Mkrn2 knockout mice produced abnormal sperms characterized by low number, poor motility, and aberrant morphology...
December 23, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27997882/mutations-in-genes-coding-for-synaptonemal-complex-proteins-and-their-impact-on-human-fertility
#17
Adriana Geisinger, Ricardo Benavente
Human infertility is often classified as idiopathic in both males and females. Meiotic errors may account for at least part of these cases. As the synaptonemal complex (SC, a meiosis-specific protein scaffold) is essential for successful meiosis progression, in this paper, we analyzed the mutations in genes coding for SC components described in infertile patients to assess to what extent alterations in the SC can be related to human infertility. So far, mutations in SYCP3 and SYCE1 genes have been reported...
2016: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/27992447/heat-sensing-receptor-trpv1-is-a-mediator-of-thermotaxis-in-human-spermatozoa
#18
Luca De Toni, Andrea Garolla, Massimo Menegazzo, Sabina Magagna, Andrea Di Nisio, Iva Šabović, Maria Santa Rocca, Valentina Scattolini, Andrea Filippi, Carlo Foresta
The molecular bases of sperm thermotaxis, the temperature-oriented cell motility, are currently under investigation. Thermal perception relies on a subclass of the transient receptor potential [TRP] channels, whose member TRPV1 is acknowledged as the heat sensing receptor. Here we investigated the involvement of TRPV1 in human sperm thermotaxis. We obtained semen samples from 16 normozoospermic subjects attending an infertility survey programme, testis biopsies from 6 patients with testicular germ cell cancer and testis fine needle aspirates from 6 patients with obstructive azoospermia undergoing assisted reproductive technologies...
2016: PloS One
https://www.readbyqxmd.com/read/27989988/novel-mutations-and-structural-deletions-in-tubb8-expanding-mutational-and-phenotypic-spectrum-of-patients-with-arrest-in-oocyte-maturation-fertilization-or-early-embryonic-development
#19
Biaobang Chen, Bin Li, Da Li, Zheng Yan, Xiaoyan Mao, Yao Xu, Jian Mu, Qiaoli Li, Li Jin, Lin He, Yanping Kuang, Qing Sang, Lei Wang
STUDY QUESTION: Are there any new type of mutations and novel phenotypes in patients with arrest in oocyte maturation, fertilization or early embryonic development having tubulin beta eight class VIII (TUBB8) mutations? SUMMARY ANSWER: We identified new types of mutations in TUBB8 associated with maturation, fertilization and developmental arrest. WHAT IS KNOWN ALREADY: We previously found heterozygous mutations and a homozygous frameshift/internal seven amino acid deletion in TUBB8 that are responsible for oocyte maturation arrest...
December 17, 2016: Human Reproduction
https://www.readbyqxmd.com/read/27967242/low-dose-dihydrotestosterone-drives-metabolic-dysfunction-via-cytosolic-and-nuclear-hepatic-androgen-receptor-mechanisms
#20
Stanley Andrisse, Shameka Childress, Yaping Ma, Katelyn Billings, Yi Chen, Ping Xue, Ashley Stewart, Momodou L Sonko, Andrew Wolfe, Sheng Wu
Androgen excess in women is associated with metabolic dysfunction (obesity, hyperinsulinemia, insulin resistance, and increased risk of type 2 diabetes (T2D)) and reproductive dysfunction (polycystic ovaries, amenorrhea, dysregulated gonadotropin release, and infertility). We sought to identify the effects of androgen excess on glucose metabolic dysfunction and the specific mechanisms of action by which androgens are inducing pathology. We developed a mouse model that displayed pathophysiological serum androgen levels with normal body mass/composition to ensure that the phenotypes were directly from androgens and not an indirect consequence of obesity...
December 14, 2016: Endocrinology
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