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https://www.readbyqxmd.com/read/29067606/a-novel-homozygous-1-bp-deletion-in-the-nobox-gene-in-two-brazilian-sisters-with-primary-ovarian-failure
#1
Monica M França, Mariana F A Funari, Antonio M Lerario, Mirian Y Nishi, Carmem C Pita, Eveline G P Fontenele, Berenice B Mendonca
PURPOSE: Primary ovarian failure (POF) is characterized by amenorrhea, hypoestrogenism, and elevated gonadotropin levels in women leading to infertility under the age of 40 years. POF is a heterogeneous disease with different causes, and several genes have been associated with the POF phenotype. Thus, Whole-exome sequencing (WES) was performed in a consanguineous family with two sisters affected by POF. METHODS: All exons of both sisters were massively sequenced by WES, and the segregation was confirmed by Sanger sequencing...
December 2017: Endocrine
https://www.readbyqxmd.com/read/29047400/observation-of-the-influences-of-diosgenin-on-aging-ovarian-reserve-and-function-in-a-mouse-model
#2
Mingjie Shen, Cong Qi, Yan-Ping Kuang, Yang Yang, Qi-Feng Lyu, Hui Long, Zhi-Guang Yan, Ying-Yu Lu
BACKGROUND: The aim of this study was to investigate the impact of diosgenin, an important monomer of sapogenins in yams, on ovarian reserve in a natural aging mice model. STUDY DESIGN: This randomized controlled trial included 60 9-month-old C57 naturally aging female mice. Twenty-one mice were assigned to the dio group and were fed a single dose of diosgenin (200 mg/kg/day) suspended in 0.3% CMC. Twenty mice were assigned to the DHEA group and were fed a single dose of DHEA (1...
October 18, 2017: European Journal of Medical Research
https://www.readbyqxmd.com/read/28969006/the-molecular-characterization-of-porcine-egg-precursor-cells
#3
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/28923703/transcriptome-analysis-of-three-critical-periods-of-ovarian-development-in-yellow-river-carp-cyprinus-carpio
#4
Yongfang Jia, Ping Nan, Wanwan Zhang, Fang Wang, Ruihua Zhang, Tingting Liang, Xiaolin Ji, Qiyan Du, Zhongjie Chang
Ovary development is a complex process involving numerous genes; the molecular mechanism underlying the ovary development of carp is still unknown. Here we used Illumina HiSeq™ 2500 to explore the transcriptome of undifferentiated gland (PG), juvenile ovary (OJ) and adult ovary (OA) of Yellow River carp (Cyprinus carpio). A total of 58,749 unigenes were obtained, comprising 45,707 known genes and 13,042 new genes. We identified differentially-expressed genes (DEGs) during development and characterized the functional properties of DEGs by comparison with the gene ontology (GO) and Kyoto Encyclopedia of Genes and Genomes databases...
January 1, 2018: Theriogenology
https://www.readbyqxmd.com/read/28743298/r-spondin2-a-novel-target-of-nobox-identification-of-variants-in-a-cohort-of-women-with-primary-ovarian-insufficiency
#5
Justine Bouilly, Isabelle Beau, Sara Barraud, Valérie Bernard, Brigitte Delemer, Jacques Young, Nadine Binart
BACKGROUND: R-spondin2 (Rspo2) is a secreted agonist of the canonical Wnt/β-catenin signaling pathway. Rspo2 plays a key role in development of limbs, lungs and hair follicles, and more recently during ovarian follicle development. Rspo2 heterozygous deficient female mice become infertile around 4 months of age mimicking primary ovarian insufficiency (POI). The study aimed to investigate the regulation of RSPO2 and its potential involvement in pathophysiology of POI. METHODS: We cloned the RSPO2 promoter and performed transcriptional assays to determine if RSPO2 can be regulated by NOBOX, an ovarian transcription factor...
July 25, 2017: Journal of Ovarian Research
https://www.readbyqxmd.com/read/28711945/the-molecular-characterization-of-porcine-egg-precursor-cells
#6
Te-Sha Tsai, Jacqueline Johnson, Yvonne White, Justin C St 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...
June 28, 2017: Oncotarget
https://www.readbyqxmd.com/read/28504655/transcription-factors-sohlh1-and-sohlh2-coordinate-oocyte-differentiation-without-affecting-meiosis-i
#7
Yong-Hyun Shin, Yu Ren, Hitomi Suzuki, Kayla J Golnoski, Hyo Won Ahn, Vasil Mico, Aleksandar Rajkovic
Following migration of primordial germ cells to the genital ridge, oogonia undergo several rounds of mitotic division and enter meiosis at approximately E13.5. Most oocytes arrest in the dictyate (diplotene) stage of meiosis circa E18.5. The genes necessary to drive oocyte differentiation in parallel with meiosis are unknown. Here, we have investigated whether expression of spermatogenesis and oogenesis bHLH transcription factor 1 (Sohlh1) and Sohlh2 coordinates oocyte differentiation within the embryonic ovary...
June 1, 2017: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/28289071/disorganization-of-the-germ-cell-pool-leads-to-primary-ovarian-insufficiency
#8
Ikko Kawashima, Kazuhiro Kawamura
The mammalian ovary is an organ that controls female germ cell development, storing them and releasing mature oocytes for transporting to the oviduct. During the fetal stage, female germ cells change from a proliferative state to meiosis before forming follicles with the potential for growth of surrounding somatic cells. Understanding of molecular and physiological bases of germ cell development in the fetal ovary contributed not only to the elucidation of genetic disorders in primary ovarian insufficiency (POI), but also advancement of novel treatments for patients with POI...
March 13, 2017: Reproduction: the Official Journal of the Society for the Study of Fertility
https://www.readbyqxmd.com/read/28182014/starvation-at-birth-impairs-germ-cell-cyst-breakdown-and-increases-autophagy-and-apoptosis-in-mouse-oocytes
#9
Yong-Yong Wang, Yuan-Chao Sun, Xiao-Feng Sun, Shun-Feng Cheng, Bo Li, Xi-Feng Zhang, Massimo De Felici, Wei Shen
The female reproductive lifespan is largely determined by the size of primordial follicle pool, which is established following germ cell cyst breakdown around birth. Almost two-third of oocytes are lost during germ cell cysts breakdown, following autophagic and apoptosis mechanisms. To investigate a possible relationship between germ cell cyst breakdown and nutrition supply, we established a starvation model in mouse pups at birth and evaluated the dynamics of cyst breakdown during nutrient deprivation. Our results showed that after 36 h of starvation between 1...
February 9, 2017: Cell Death & Disease
https://www.readbyqxmd.com/read/28089945/zearalenone-exposure-impairs-ovarian-primordial-follicle-formation-via-down-regulation-of-lhx8-expression-in-vitro
#10
Guo-Liang Zhang, Xiao-Feng Sun, Yan-Zhong Feng, Bo Li, Ya-Peng Li, Fan Yang, Charles Martin Nyachoti, Wei Shen, Shi-Duo Sun, Lan Li
Zearalenone (ZEA) is an estrogenic mycotoxin mainly produced as a secondary metabolite by numerous species of Fusarium. Previous work showed that ZEA had a negative impact on domestic animals with regard to reproduction. The adverse effects and the mechanisms of ZEA on mammalian ovarian folliculogenesis remain largely unknown, particularly its effect on primordial follicle formation. Thus, we investigated the biological effects of ZEA exposure on murine ovarian germ cell cyst breakdown and primordial follicle assembly...
February 15, 2017: Toxicology and Applied Pharmacology
https://www.readbyqxmd.com/read/27836978/a-homozygous-nobox-truncating-variant-causes-defective-transcriptional-activation-and-leads-to-primary-ovarian-insufficiency
#11
Lin Li, Binbin Wang, Wei Zhang, Beili Chen, Minna Luo, Jing Wang, Xi Wang, Yunxia Cao, Kehkooi Kee
STUDY QUESTION: Does a novel homozygous NOBOX truncating variant, identified in whole exome sequencing (WES) of patients with primary ovarian insufficiency (POI), cause defective transcriptional activation of multiple oocyte-related genes? SUMMARY ANSWER: A novel homozygous truncating mutation of NOBOX was confirmed to exhibit a loss-of-function effect using well-defined molecular and functional analyses. WHAT IS KNOWN ALREADY: Several NOBOX mutations have been reported to be associated with POI but all of them are heterozygous mutations...
January 2017: Human Reproduction
https://www.readbyqxmd.com/read/27798098/impaired-protein-stability-and-nuclear-localization-of-nobox-variants-associated-with-premature-ovarian-insufficiency
#12
Ilaria Ferrari, Justine Bouilly, Isabelle Beau, Fabiana Guizzardi, Alberto Ferlin, Marzia Pollazzon, Mariacarolina Salerno, Nadine Binart, Luca Persani, Raffaella Rossetti
Premature ovarian insufficiency (POI) is a clinical syndrome defined by a loss of ovarian activity before the age of 40. Its pathogenesis is still largely unknown, but increasing evidences support a genetic basis in most cases. Among these, heterozygous mutations in NOBOX, a homeobox gene encoding a transcription factor expressed specifically by oocyte and granulosa cells within the ovary, have been reported in ∼6% of women with sporadic POI. The pivotal role of NOBOX in early folliculogenesis is supported by findings in knock-out mice...
December 1, 2016: Human Molecular Genetics
https://www.readbyqxmd.com/read/27603904/identification-of-multiple-gene-mutations-accounts-for-a-new-genetic-architecture-of-primary-ovarian-insufficiency
#13
Justine Bouilly, Isabelle Beau, Sara Barraud, Valérie Bernard, Kemal Azibi, Jérôme Fagart, Anne Fèvre, Anne Laure Todeschini, Reiner A Veitia, Chérif Beldjord, Brigitte Delemer, Catherine Dodé, Jacques Young, Nadine Binart
CONTEXT: Idiopathic primary ovarian insufficiency (POI) is a major cause of amenorrhea and infertility. POI affects 1% of women before age 40 years, and several genetic causes have been reported. To date, POI has been considered a monogenic disorder. OBJECTIVE: The aim of this study was to identify novel gene variations and to investigate if individuals with POI harbor mutation in multiple loci. PATIENTS AND METHODS: One hundred well-phenotyped POI patients were systematically screened for variants in 19 known POI loci (and potential candidate genes) using next-generation sequencing...
December 2016: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/27412763/characterization-and-target-genes-of-nine-human-prd-like-homeobox-domain-genes-expressed-exclusively-in-early-embryos
#14
Elo Madissoon, Eeva-Mari Jouhilahti, Liselotte Vesterlund, Virpi Töhönen, Kaarel Krjutškov, Sophie Petropoulous, Elisabet Einarsdottir, Sten Linnarsson, Fredrik Lanner, Robert Månsson, Outi Hovatta, Thomas R Bürglin, Shintaro Katayama, Juha Kere
PAIRED (PRD)-like homeobox genes belong to a class of predicted transcription factor genes. Several of these PRD-like homeobox genes have been predicted in silico from genomic sequence but until recently had no evidence of transcript expression. We found recently that nine PRD-like homeobox genes, ARGFX, CPHX1, CPHX2, DPRX, DUXA, DUXB, NOBOX, TPRX1 and TPRX2, were expressed in human preimplantation embryos. In the current study we characterized these PRD-like homeobox genes in depth and studied their functions as transcription factors...
2016: Scientific Reports
https://www.readbyqxmd.com/read/27341508/taf4b-regulates-oocyte-specific-genes-essential-for-meiosis
#15
Kathryn J Grive, Eric A Gustafson, Kimberly A Seymour, Melody Baddoo, Christoph Schorl, Kayla Golnoski, Aleksandar Rajkovic, Alexander S Brodsky, Richard N Freiman
TAF4b is a gonadal-enriched subunit of the general transcription factor TFIID that is implicated in promoting healthy ovarian aging and female fertility in mice and humans. To further explore the potential mechanism of TAF4b in promoting ovarian follicle development, we analyzed global gene expression at multiple time points in the human fetal ovary. This computational analysis revealed coordinate expression of human TAF4B and critical regulators and effectors of meiosis I including SYCP3, YBX2, STAG3, and DAZL...
June 2016: PLoS Genetics
https://www.readbyqxmd.com/read/27050391/rac1-modulates-the-formation-of-primordial-follicles-by-facilitating-stat3-directed-jagged1-gdf9-and-bmp15-transcription-in-mice
#16
Lihua Zhao, Xinhua Du, Kun Huang, Tuo Zhang, Zhen Teng, Wanbao Niu, Chao Wang, Guoliang Xia
The size of the primordial follicle pool determines the reproductive potential of mammalian females, and establishment of the pool is highly dependent on specific genes expression. However, the molecular mechanisms by which the essential genes are regulated coordinately to ensure primordial follicle assembly remain a mystery. Here, we show that the small GTPase Rac1 plays an indispensable role in controlling the formation of primordial follicles in mouse ovary. Employing fetal mouse ovary organ culture system, we demonstrate that disruption of Rac1 retarded the breakdown of germline cell cysts while Rac1 overexpression accelerated the formation of primordial follicles...
April 6, 2016: Scientific Reports
https://www.readbyqxmd.com/read/26848058/nobox-is-a-strong-autosomal-candidate-gene-in-tunisian-patients-with-primary-ovarian-insufficiency
#17
N Bouali, B Francou, J Bouligand, B Lakhal, I Malek, M Kammoun, J Warszawski, S Mougou, A Saad, A Guiochon-Mantel
Premature ovarian insufficiency (POI) affects approximately 1% of women before the age of 40. Genetic contribution is a significant component of POI. In this context, heterozygous mutations in NOBOX, BMP15 and GDF9 have been reported. The objective of our study was to evaluate the prevalence of these genes mutations in 125 unrelated Tunisian patients diagnosed with POI. The screening of NOBOX gene revealed three missense mutations (p.Arg117Trp; p.Gly91Trp and p.Pro619Leu) in eight patients. These mutations were not found in a 200 ethnically matched women without fertility problem...
May 2016: Clinical Genetics
https://www.readbyqxmd.com/read/26554027/gap-junctions-are-essential-for-murine-primordial-follicle-assembly-immediately-before-birth
#18
Zhen Teng, Chao Wang, Yijing Wang, Kun Huang, Xi Xiang, Wanbao Niu, Lizhao Feng, Lihua Zhao, Hao Yan, Hua Zhang
The reserve of primordial follicles determines the reproductive ability of the female mammal over its reproductive life. The primordial follicle is composed of two types of cells: oocytes and surrounding pre-granulosa cells. However, the underlying mechanism regulating primordial follicle assembly is largely undefined. In this study, we found that gap junction communication (GJC) established between the ovarian cells in the perinatal mouse ovary may be involved in the process. First, gap junction structures between the oocyte and surrounding pre-granulosa cells appear at about 19...
February 2016: Reproduction: the Official Journal of the Society for the Study of Fertility
https://www.readbyqxmd.com/read/26243799/genetics-of-primary-ovarian-insufficiency-new-developments-and-opportunities
#19
REVIEW
Yingying Qin, Xue Jiao, Joe Leigh Simpson, Zi-Jiang Chen
BACKGROUND: Primary ovarian insufficiency (POI) is characterized by marked heterogeneity, but with a significant genetic contribution. Identifying exact causative genes has been challenging, with many discoveries not replicated. It is timely to take stock of the field, outlining the progress made, framing the controversies and anticipating future directions in elucidating the genetics of POI. METHODS: A search for original articles published up to May 2015 was performed using PubMed and Google Scholar, identifying studies on the genetic etiology of POI...
November 2015: Human Reproduction Update
https://www.readbyqxmd.com/read/26076587/lhx8-regulates-primordial-follicle-activation-and-postnatal-folliculogenesis
#20
Yu Ren, Hitomi Suzuki, Krishna Jagarlamudi, Kayla Golnoski, Megan McGuire, Rita Lopes, Vassilis Pachnis, Aleksandar Rajkovic
BACKGROUND: The early stages of ovarian follicle formation-beginning with the breakdown of germ cell cysts and continuing with the formation of primordial follicles and transition to primary and secondary follicles-are critical in determining reproductive life span and fertility. Previously, we discovered that global knockouts of germ cell-specific transcriptional co-regulators Sohlh1, Sohlh2, Lhx8, and Nobox, cause rapid oocyte loss and ovarian failure. Also factors such as Nobox and Sohlh1 are associated with human premature ovarian failure...
June 16, 2015: BMC Biology
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