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FOXL2

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https://www.readbyqxmd.com/read/29666332/expression-profiles-of-amh-and-foxl2-in-schizothorax-kozlovi-and-their-response-to-temperature-during-the-early-developmental-stage
#1
Yongfeng He, Xuge Wang, Xingbing Wu, Yongjiu Zhu, Deguo Yang
To elucidate the role of amh and foxl2 in sex differentiation of the teleost fish Schizothorax kozlovi, the full-length cDNAs were cloned from the mature testis and ovary by rapid amplification of cDNA ends (RACE), and their relative mRNA expression levels were determined by quantitative real-time polymerase chain reaction among tissues and temperature groups. The complete amh and foxl2 cDNAs of S. kozlovi were 2060 bp and 1750 bp, which encoded 568 and 306 amino acids, respectively. The amh were expressed only in gonads, while foxl2 was expressed in the gills, brain and gonads, both exhibiting relatively high tissue specificity...
March 2018: Journal of Genetics
https://www.readbyqxmd.com/read/29660837/dicer1-hotspot-mutations-in-ovarian-gynandroblastoma
#2
Yemin Wang, Anthony N Karnezis, Jamie Magrill, Basile Tessier-Cloutier, Amy Lum, Janine Senz, C Blake Gilks, W Glenn McCluggage, David G Huntsman, Friedrich Kommoss
AIMS: Gynandroblastoma is a rare ovarian sex cord-stromal tumor characterized by the presence of both male (Sertoli and/or Leydig cells) and female (granulosa cells) components. We investigated the mutational status of DICER1, FOXL2 and AKT1 genes at hotspot regions that are known to be the key driving events in the development of Sertoli-Leydig cell tumor (SLCT), adult granulosa cell tumor (aGCT) and juvenile granulosa cell tumor (jGCT), respectively, to gain insights into the molecular pathogenesis of gynandroblastoma...
April 16, 2018: Histopathology
https://www.readbyqxmd.com/read/29616724/sex-determination-and-gonadal-sex-differentiation-in-the-chicken-model
#3
Claire E Hirst, Andrew T Major, Craig A Smith
Our understanding of avian sex determination and gonadal development is derived primarily from the studies in the chicken. Analysis of gynandromorphic chickens and experimental chimeras indicate that sexual phenotype is at least partly cell autonomous in the chicken, with sexually dimorphic gene expression occurring in different tissue and different stages. Gonadal sex differentiation is just one of the many manifestations of sexual phenotype. As in other birds, the chicken has a ZZ male: ZW female sex chromosome system, in which the male is the homogametic sex...
2018: International Journal of Developmental Biology
https://www.readbyqxmd.com/read/29602213/expression-of-the-sox9-foxl2-vasa-and-trpv4-genes-in-the-ovaries-and-testes-of-the-morelet-s-crocodile-crocodylus-moreletii
#4
Adriana Martínez-Juárez, Marco A López-Luna, Tania J Porras-Gómez, Norma Moreno-Mendoza
The Sox9 gene is important for determining sex in vertebrates, as well as for maintaining testis morphology and fertility during adult life. In the same way, Vasa is an important gene for the maintenance of the germinal lineage and has been highly conserved throughout evolution, as it is expressed in germ cells of both vertebrates and invertebrates. In the particular case of crocodiles, the expression of Sox9 during gonadal morphogenesis and in the testes of 3-month-old Alligator mississippiensis has been studied...
March 30, 2018: Journal of Experimental Zoology. Part B, Molecular and Developmental Evolution
https://www.readbyqxmd.com/read/29549247/endogenous-c-jun-n-terminal-kinase-jnk-activity-marks-the-boundary-between-normal-and-malignant-granulosa-cells
#5
Gamze Bildik, Nazli Akin, Filiz Senbabaoglu, Yashar Esmalian, Gizem Nur Sahin, Defne Urman, Sercin Karahuseyinoglu, Umit Ince, Erhan Palaoglu, Cagatay Taskiran, Macit Arvas, Yilmaz Guzel, Kayhan Yakin, Ozgur Oktem
Granulosa cell tumor of the ovary (GCT) is a very rare tumor, accounting for only 2% of all ovarian tumors. It originates from sex cords in the ovary and can be divided into adult (95%) and juvenile (5%) types based on histologic findings. To date, no clear etiologic process has been identified other than a missense point mutation in the FOXL2 gene. Our previous works showed that c-Jun N-terminal kinase (JNK) pathway plays critical role in cell cycle progression and mitosis of normal and immortalized granulosa cells and follicle growth in rodent ovaries...
March 16, 2018: Cell Death & Disease
https://www.readbyqxmd.com/read/29546597/proteome-and-transcriptome-analysis-of-ovary-intersex-gonads-and-testis-reveals-potential-key-sex-reversal-differentiation-genes-and-mechanism-in-scallop-chlamys-nobilis
#6
Yu Shi, Wenguang Liu, Maoxian He
Bivalve mollusks exhibit hermaphroditism and sex reversal/differentiation. Studies generally focus on transcriptional profiling and specific genes related to sex determination and differentiation. Few studies on sex reversal/differentiation have been reported. A combination analysis of gonad proteomics and transcriptomics was conducted on Chlamys nobilis to provide a systematic understanding of sex reversal/differentiation in bivalves. We obtained 4258 unique peptides and 93,731 unigenes with good correlation between messenger RNA and protein levels...
March 15, 2018: Marine Biotechnology
https://www.readbyqxmd.com/read/29524574/identification-and-differential-expression-of-micrornas-in-testis-and-ovary-of-amur-sturgeon-acipenser-schrenckii
#7
Xiujuan Zhang, Linmiao Li, Haiying Jiang, Jinge Ma, Juan Li, Jinping Chen
BACKGROUND: MicroRNAs (miRNAs) cooperate with sex-related genes in post-transcriptional regulation and play extremely important roles in the establishment of sexually dimorphic traits in animals. However, the gonad miRNAs and expression patterns of miRNAs in sturgeon have not been investigated. METHODS: In the present study, we used high-throughput small RNA sequencing (RNA-Seq) to discover gonad miRNAs from the ovaries and testes of Amur sturgeons (Acipenser schrenckii)...
March 7, 2018: Gene
https://www.readbyqxmd.com/read/29523193/human-amniotic-mesenchymal-stem-cells-improve-ovarian-function-in-natural-aging-through-secreting-hepatocyte-growth-factor-and-epidermal-growth-factor
#8
Chenyue Ding, Qinyan Zou, Fuxin Wang, Huihua Wu, Rulei Chen, Jinghuan Lv, Mingfa Ling, Jian Sun, Wei Wang, Hong Li, Boxian Huang
BACKGROUND: Although many reports show that various kinds of stem cells have the ability to recover function in premature ovarian aging, few studies have looked at stem cell treatment of natural ovarian aging (NOA). We designed this experimental study to investigate whether human amniotic mesenchymal stem cells (hAMSCs) retain the ability to restore ovarian function, and how hAMSCs work in this process. METHODS: To build the NOA mouse model, the mice were fed for 12-14 months normally with young fertile female mice as the normal control group (3-5 months old)...
March 9, 2018: Stem Cell Research & Therapy
https://www.readbyqxmd.com/read/29518581/transcriptome-analysis-identifies-genes-involved-in-sex-determination-and-development-of-xenopus-laevis-gonads
#9
Rafal P Piprek, Milena Damulewicz, Malgorzata Kloc, Jacek Z Kubiak
Development of the gonads is a complex process, which starts with a period of undifferentiated, bipotential gonads. During this period the expression of sex-determining genes is initiated. Sex determination is a process triggering differentiation of the gonads into the testis or ovary. Sex determination period is followed by sexual differentiation, i.e. appearance of the first testis- and ovary-specific features. In Xenopus laevis W-linked DM-domain gene (DM-W) had been described as a master determinant of the gonadal female sex...
March 2, 2018: Differentiation; Research in Biological Diversity
https://www.readbyqxmd.com/read/29508928/genomic-signatures-reveal-selection-of-characteristics-within-and-between-meishan-pig-populations
#10
H Sun, Z Wang, Z Zhang, Q Xiao, S Mawed, Z Xu, X Zhang, H Yang, M Zhu, M Xue, X Liu, W Zhang, Y Zhen, Q Wang, Y Pan
The Chinese Meishan pig breed is well known for its high prolificacy. Moreover, this breed can be divided into three types based on their body size: big Meishan, middle Meishan (MMS) and small Meishan (SMS) pigs. Few studies have reported on the genetic signatures of Meishan pigs, particularly on a genome-wide scale. Exploring for genetic signatures could be quite valuable for revealing the genetic architecture of phenotypic variation. Thus, we performed research in two parts based on the genome reducing and sequencing data of 143 Meishan pigs (74 MMS pigs, 69 SMS pigs)...
March 6, 2018: Animal Genetics
https://www.readbyqxmd.com/read/29506120/granulosa-cells-from-human-primordial-and-primary-follicles-show-differential-global-gene-expression-profiles
#11
E H Ernst, S Franks, K Hardy, P Villesen, K Lykke-Hartmann
STUDY QUESTION: Can novel genetic candidates involved in follicle dormancy, activation and integrity be identified from transcriptomic profiles of isolated granulosa cells from human primordial and primary follicles? SUMMARY ANSWER: The granulosa cell compartment of the human primordial and primary follicle was extensively enriched in signal transducer and activator of transcription 3 (STAT3) and cAMP-response element binding protein (CREB) signalling, and several other putative signalling pathways that may also be mediators of follicle growth and development were identified...
February 28, 2018: Human Reproduction
https://www.readbyqxmd.com/read/29505555/novel-genetic-variants-of-sporadic-atrial-septal-defect-asd-in-a-chinese-population-identified-by-whole-exome-sequencing-wes
#12
Yong Liu, Yu Cao, Yaxiong Li, Dongyun Lei, Lin Li, Zong Liu Hou, Shen Han, Mingyao Meng, Jianlin Shi, Yayong Zhang, Yi Wang, Zhaoyi Niu, Yanhua Xie, Benshan Xiao, Yuanfei Wang, Xiao Li, Lirong Yang, Wenju Wang, Lihong Jiang
BACKGROUND Recently, mutations in several genes have been described to be associated with sporadic ASD, but some genetic variants remain to be identified. The aim of this study was to use whole-exome sequencing (WES) combined with bioinformatics analysis to identify novel genetic variants in cases of sporadic congenital ASD, followed by validation by Sanger sequencing. MATERIAL AND METHODS Five Han patients with secundum ASD were recruited, and their tissue samples were analyzed by WES, followed by verification by Sanger sequencing of tissue and blood samples...
March 5, 2018: Medical Science Monitor: International Medical Journal of Experimental and Clinical Research
https://www.readbyqxmd.com/read/29481440/blepharophimosis-ptosis-epicanthus-inversus-syndrome-caused-by-a-54-kb-microdeletion-in-a-foxl2-cis-regulatory-element
#13
Arjan Bouman, Mieke van Haelst, Rosalina van Spaendonk
No abstract text is available yet for this article.
February 23, 2018: Clinical Dysmorphology
https://www.readbyqxmd.com/read/29478779/loss-of-function-of-the-nuclear-receptor-nr2f2-encoding-coup-tf2-causes-testis-development-and-cardiac-defects-in-46-xx-children
#14
Anu Bashamboo, Caroline Eozenou, Anne Jorgensen, Joelle Bignon-Topalovic, Jean-Pierre Siffroi, Capucine Hyon, Attila Tar, Péter Nagy, Janos Sólyom, Zita Halász, Annnabel Paye-Jaouen, Sophie Lambert, David Rodriguez-Buritica, Rita Bertalan, Laetitia Martinerie, Ewa Rajpert-De Meyts, John C Achermann, Ken McElreavey
Emerging evidence from murine studies suggests that mammalian sex determination is the outcome of an imbalance between mutually antagonistic male and female regulatory networks that canalize development down one pathway while actively repressing the other. However, in contrast to testis formation, the gene regulatory pathways governing mammalian ovary development have remained elusive. We performed exome or Sanger sequencing on 79 46,XX SRY-negative individuals with either unexplained virilization or with testicular/ovotesticular disorders/differences of sex development (TDSD/OTDSD)...
February 16, 2018: American Journal of Human Genetics
https://www.readbyqxmd.com/read/29471425/foxl2c134w-induced-cyp19-expression-via-cooperation-with-smad3-in-hgrc1-cells
#15
Martina Belli, Nahoko Iwata, Tomoko Nakamura, Akira Iwase, Dwayne Stupack, Shunichi Shimasaki
Germline knockout studies in female mice demonstrated an essential role for FOXL2 in early follicle development, while an inducible granulosa cell (GC) specific deletion of Foxl2 in adults has shown ovary-to-testis somatic sex reprogramming. In women, over 120 different germline mutations in the FOXL2 gene have been shown to cause blepharophimosis/ptosis/epicantus inversus syndrome associated with or without primary ovarian insufficiency. By contrast, a single somatic mutation (FOXL2C134W) accounts for almost all adult-type GC tumors (aGCTs)...
February 19, 2018: Endocrinology
https://www.readbyqxmd.com/read/29419871/-identification-of-de-novo-chromosomal-structural-abnormalities-using-whole-genome-sequencing
#16
Qin Zhang, Jian Ou, Wei Wang, Tao Feng, Chengying Duan, Peipei Li, Chunhua Lin, Hong Li
OBJECTIVE To assess the value of whole genome sequencing for the identification of de novo structural chromosomal abnormalities. METHODS Whole genome sequencing was utilized to analyze a boy with a peripheral blood karyotype of 46,XY,ins(3)(q21p13p21). The patient manifested with ocular abnormalities including blepharophimosis and ptosis. RESULTS Whole genome sequencing suggested a fragmentation of chromosome 3 (from position 55 473 257 to 78 341 929) has been inserted into between 136 876 730 to 138 643 831, and the breakpoints have occurred in the intergenic region...
February 10, 2018: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/29415736/uterine-foxl2-regulates-the-adherence-of-the-trophectoderm-cells-to-the-endometrial-epithelium
#17
Michal Elbaz, Ron Hadas, Louise M Bilezikjian, Eran Gershon
BACKGROUND: Forkhead Transcription Factor L2 (FOXL2) is a member of the forkhead family with important roles in reproduction. Recent studies showed that FOXL2 is expressed in human and bovine endometrium and that its levels fluctuate during pregnancy. In this study, we aimed at evaluating the expression and function of FOXL2 in embryo implantation. METHODS: Mouse uteri at different days of pregnancy were isolated and analyzed for the expression and localization of FOXL2...
February 7, 2018: Reproductive Biology and Endocrinology: RB&E
https://www.readbyqxmd.com/read/29409506/the-molecular-mechanism-of-ovarian-granulosa-cell-tumors
#18
REVIEW
Jiaheng Li, Riqiang Bao, Shiwei Peng, Chunping Zhang
Over these years, more and more sex cord-stromal tumors have been reported. Granulosa cell tumor (GCT) is a rare tumor in ovaries, accounts for 2% to 5% of ovarian cancers. The main different feature of GCTs from other ovarian cancers is that GCTs can lead to abnormally secreted hormones (estrogen, inhibin and Müllerian inhibiting substance). The GCT is divided into two categories according to the age of patients, namely AGCT (adult granulosa cell tumor) and JGCT (Juvenile granulosa cell tumor). AGCT patients accounts for 95%...
February 6, 2018: Journal of Ovarian Research
https://www.readbyqxmd.com/read/29378385/novel-foxl2-mutations-cause-blepharophimosis-ptosis-epicanthus-inversus-syndrome-with-premature-ovarian-insufficiency
#19
Xiao-Wen Yang, Wen-Bin He, Fei Gong, Wen Li, Xiu-Rong Li, Chang-Gao Zhong, Guang-Xiu Lu, Ge Lin, Juan Du, Yue-Qiu Tan
BACKGROUND: Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is a malformation of the eyelids. Forkhead Box L2 (FOXL2) is the only gene known to be associated with BPES. METHODS: We identified two Han Chinese BPES families with premature ovarian insufficiency (POI). Sanger sequencing and in vitro functional analysis were performed to identify the genetic cause. RESULTS: Sanger sequencing identified two novel mutations (c.462_468del, c...
January 29, 2018: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/29360964/deciphering-the-link-between-doubly-uniparental-inheritance-of-mtdna-and-sex-determination-in-bivalves-clues-from-comparative-transcriptomics
#20
Charlotte Capt, Sébastien Renaut, Fabrizio Ghiselli, Liliana Milani, Nathan A Johnson, Bernard E Sietman, Donald T Stewart, Sophie Breton
Bivalves exhibit an astonishing diversity of sexual systems and sex-determining mechanisms. They can be gonochoric, hermaphroditic or androgenetic, with both genetic and environmental factors known to determine or influence sex. One unique sex-determining system involving the mitochondrial genome has also been hypothesized to exist in bivalves with doubly uniparental inheritance (DUI) of mtDNA. However, the link between DUI and sex determination remains obscure. In this study, we performed a comparative gonad transcriptomics analysis for two DUI-possessing freshwater mussel species to better understand the mechanisms underlying sex determination and DUI in these bivalves...
February 1, 2018: Genome Biology and Evolution
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