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https://www.readbyqxmd.com/read/28091399/sex-determination-and-maintenance-the-role-of-dmrt1-and-foxl2
#1
REVIEW
Shengsong Huang, Leping Ye, Haolin Chen
In many species, including mammals, sex determination is genetically based. The sex chromosomes that individuals carry determine sex identity. Although the genetic base of phenotypic sex is determined at the moment of fertilization, the development of testes or ovaries in the bipotential early gonads takes place during embryogenesis. During development, sex determination depends upon very few critical genes. When one of these key genes functions inappropriately, sex reversal may happen. Consequently, an individual's sex phenotype may not necessarily be consistent with the sex chromosomes that are present...
January 13, 2017: Asian Journal of Andrology
https://www.readbyqxmd.com/read/28076754/transcriptome-analysis-of-the-potential-roles-of-foxl2-in-chicken-pre-hierarchical-and-pre-ovulatory-granulosa-cells
#2
Jing Wang, Chengcheng Zhao, Jinqiu Li, Yanping Feng, Yanzhang Gong
Forkheadbox L2 (FOXL2) is a transcription factor involved in mammalian ovarian development, especially in granulosa cell differentiation. However, this factor's function in mature chicken ovary is unclear. To explore the function of FOXL2 in chicken granulosa cells, we performed RNA-seq to compare the transcriptomes of pre-hierarchical (phGCs) and pre-ovulatory granulosa cells (poGCs) by FOXL2 overexpression. We observed that focal adhesion might be one of the key pathways activated during the differentiation of granulosa cells, and FOXL2 might be involved in follicle selection by regulating the expression of cytokines and the concentration of cyclic adenosine monophosphate (cAMP)...
January 5, 2017: Comparative Biochemistry and Physiology. Part D, Genomics & Proteomics
https://www.readbyqxmd.com/read/28045957/normal-levels-of-sox9-expression-in-the-developing-mouse-testis-depend-on-the-tes-tesco-enhancer-but-this-does-not-act-alone
#3
Nitzan Gonen, Alexander Quinn, Helen C O'Neill, Peter Koopman, Robin Lovell-Badge
During mouse sex determination, transient expression of the Y-linked gene Sry up-regulates its direct target gene Sox9, via a 3.2 kb testis specific enhancer of Sox9 (TES), which includes a core 1.4 kb element, TESCO. SOX9 activity leads to differentiation of Sertoli cells, rather than granulosa cells from the bipotential supporting cell precursor lineage. Here, we present functional analysis of TES/TESCO, using CRISPR/Cas9 genome editing in mice. Deletion of TESCO or TES reduced Sox9 expression levels in XY fetal gonads to 60 or 45% respectively relative to wild type gonads, and reduced expression of the SOX9 target Amh...
January 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28002600/differential-expression-of-toll-like-receptors-in-goat-dominant-and-nondominant-follicles
#4
G X E, Y J Zhao, Y H Ma, M X Chu, Q H Hong, S J Lv, L Zhu, F K Li, Y G Han, X Wu, Y F Huang
The mechanism of dominant follicle selection is unclear because of its physiological complexity. However, some studies have reported that the immune system plays an important role in reproductive physiology. The objective of the current study was to investigate the differential expression of Toll-like receptors (TLRs) in the dominant (DFs) and nondominant follicles (NFs), and to determine the correlation between the expression of TLRs and the related genes, such as WNT4 and FOXL2. In this comparative study, the expression levels of TLRs, WNT4, and FOXL2 genes of DFs and NFs were obtained from three Dazu black goats were estimated using the real-time PCR...
December 19, 2016: Genetics and Molecular Research: GMR
https://www.readbyqxmd.com/read/27994055/smad3-regulates-follicle-stimulating-hormone-synthesis-by-pituitary-gonadotrope-cells-in-vivo
#5
Yining Li, Gauthier Schang, Ulrich Boehm, Chu-Xia Deng, Jonathan Graff, Daniel J Bernard
Pituitary follicle-stimulating hormone (FSH) is an essential regulator of fertility in females and of quantitatively normal spermatogenesis in males. Pituitary-derived activins are thought to act as major stimulators of FSH synthesis by gonadotrope cells. In vitro, activins signal via SMAD3, SMAD4, and forkhead box L2 (FOXL2) to regulate transcription of the FSHβ subunit gene (Fshb). Consistent with this model, gonadotrope-specific Smad4 or Foxl2 knockout mice have greatly reduced FSH and are subfertile. SMAD3's role in vivo is unresolved; however, residual FSH production in Smad4 conditional knockout mice may derive from partial compensation by SMAD3 and its ability to bind DNA in the absence of SMAD4...
December 19, 2016: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/27940159/dmrt1-is-necessary-for-male-sexual-development-in-zebrafish
#6
Kaitlyn A Webster, Ursula Schach, Angel Ordaz, Jocelyn S Steinfeld, Bruce W Draper, Kellee R Siegfried
The dmrt1 (doublesex and mab-3 related transcription factor 1) gene is a key regulator of sex determination and/or gonadal sex differentiation across metazoan animals. This is unusual given that sex determination genes are typically not well conserved. The mechanisms by which zebrafish sex is determined have remained elusive due to the lack of sex chromosomes and the complex polygenic nature of sex determination in domesticated strains. To investigate the role of dmrt1 in zebrafish sex determination and gonad development, we isolated mutations disrupting this gene...
December 8, 2016: Developmental Biology
https://www.readbyqxmd.com/read/27914838/lacrimal-gland-involvement-in-blepharophimosis-ptosis-epicanthus-inversus-syndrome
#7
Ana Filipa Duarte, Patricia M S Akaishi, Greice A de Molfetta, Salomão Chodraui-Filho, Murilo Cintra, Alcina Toscano, Wilson Araujo Silva, Antonio A V Cruz
PURPOSE: To describe the involvement of the lacrimal gland (LG) in blepharophimosis-ptosis-epicanthus inversus syndrome (BPES). DESIGN: Observational, cross-sectional study. PARTICIPANTS: Twenty-one patients with BPES (10 female, 11 male) aged on average 15 years (range, 2-39 years), from 3 Brazilian medical centers and 1 Portuguese medical center. METHODS: Patients had their ocular surface evaluated with slit-lamp biomicroscopy, and tear production quantified with the Schirmer test I...
November 30, 2016: Ophthalmology
https://www.readbyqxmd.com/read/27885666/differential-expression-of-foxl2-and-cyp19a1a-mrna-during-gonad-developmental-stages-in-great-sturgeon-huso-huso
#8
M Yarmohammadi, M Pourkazemi, R Kazemi
This study aimed to determine the sex specificity and expression pattern of foxl2 and cyp19a1a genes in great sturgeon Huso huso gonads during gonadal sex differentiation and development. The results revealed that foxl2 and cyp19a1a mainly expressed in female gonads and during gonad development the foxl2 and cyp19a1a mRNA expression is required for ovarian development.
November 25, 2016: Journal of Fish Biology
https://www.readbyqxmd.com/read/27830327/lack-of-mutation-of-dicer1-and-foxl2-genes-in-microcystic-stromal-tumor-of-the-ovary
#9
Alexandra Meurgey, Françoise Descotes, Eliane Mery-Lamarche, Mojgan Devouassoux-Shisheboran
Microcystic stromal tumors (MCST), first described in 2009 by Irving et al., are rare ovarian neoplasms. The entity was introduced into the 2014 WHO classification of tumors of female reproductive organs in the group of sex cord-stromal tumors, which is rather heterogeneous. We studied three cases of ovarian tumor with the characteristic morphological features and immunohistochemical marker profiles of MCST. The three tumors showed micro, and macrocystic patterns with solid areas, and were composed of small round to spindle-shaped cells, without atypia...
November 9, 2016: Virchows Archiv: An International Journal of Pathology
https://www.readbyqxmd.com/read/27813081/genetics-and-genomics-of-ovarian-sex-cord-stromal-tumors
#10
REVIEW
Peter J Fuller, Dilys Leung, Simon Chu
Ovarian sex cord-stromal tumors represent ~8% of malignant ovarian tumors. The most common are granulosa cell tumors (GCT) which account for ~90% of malignant sex cord-stromal tumors. Recent studies have unravelled the key genomic and genetic events contributing to their pathogenesis. Sex cord-stromal tumors are found in the hereditary syndromes: Peutz-Jeghers Syndrome, Ollier disease and Maffucci syndrome, and DICER1 syndrome. Genomic studies have largely been limited to GCT where a number of recurring chromosomal abnormalities (monsomy and trisomy) have been identified although their contribution to pathogenesis remains unclear...
November 4, 2016: Clinical Genetics
https://www.readbyqxmd.com/read/27810492/molecular-initiating-events-of-the-intersex-phenotype-low-dose-exposure-to-17%C3%AE-ethinylestradiol-rapidly-regulates-molecular-networks-associated-with-gonad-differentiation-in-the-adult-fathead-minnow-testis
#11
April Feswick, Jennifer R Loughery, Meghan A Isaacs, Kelly R Munkittrick, Christopher J Martyniuk
Intersex, or the presence of oocytes in the testes, has been documented in fish following exposure to wastewater effluent and estrogenic compounds. However, the molecular networks underlying the intersex condition are not completely known. To address this, we exposed male fathead minnows to a low, environmentally-relevant concentration of 17alpha-ethinylestradiol (EE2) (15ng/L) and measured the transcriptome response in the testis after 96h to identify early molecular initiating events that may proceed the intersex condition...
December 2016: Aquatic Toxicology
https://www.readbyqxmd.com/read/27810330/foxl2-402c-g-mutation-can-be-identified-in-the-circulating-tumor-dna-of-patients-with-adult-type-granulosa-cell-tumor
#12
Anniina Färkkilä, Melissa K McConechy, Winnie Yang, Aline Talhouk, Ying Ng, Amy Lum, Ryan D Morin, Kevin Bushell, Annika Riska, Jessica N McAlpine, C Blake Gilks, Leila Unkila-Kallio, Mikko Anttonen, David G Huntsman
Adult granulosa cell tumors (AGCTs) of the ovary are molecularly characterized by the pathognomonic FOXL2 402C>G (C134W) mutation. To improve diagnostics and follow-up, we developed a specific digital droplet PCR (ddPCR) assay to detect the FOXL2 mutation in the circulating tumor DNA (ctDNA) of AGCT patients. Optimization of the ddPCR assay was performed using a TaqMan primer/probe with the RainDance RainDrop digital PCR system. The ddPCR assay was performed on circulating cell-free DNA extracted from 120 serial plasma samples collected prospectively from 35 AGCT patients...
January 2017: Journal of Molecular Diagnostics: JMD
https://www.readbyqxmd.com/read/27801941/non-coding-variation-in-disorders-of-sex-development
#13
REVIEW
Dorien Baetens, Bérénice B Mendonça, Hannah Verdin, Martine Cools, Elfride De Baere
Genetic studies in Disorders of Sex Development (DSD), representing a wide spectrum of developmental or functional conditions of the gonad, have mainly been oriented towards the coding genome. Application of genomic technologies, such as whole exome sequencing, result in a molecular genetic diagnosis in ~50% of cases with DSD. Many of the genes mutated in DSD encode transcription factors such as SRY, SOX9, NR5A1, and FOXL2, characterized by a strictly regulated spatiotemporal expression. Hence, it can be hypothesized that at least part of the missing genetic variation in DSD can be explained by non-coding mutations in regulatory elements that alter gene expression, either by reduced, mis- or overexpression of their target genes...
November 1, 2016: Clinical Genetics
https://www.readbyqxmd.com/read/27798098/impaired-protein-stability-and-nuclear-localization-of-nobox-variants-associated-with-premature-ovarian-insufficiency
#14
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...
October 23, 2016: Human Molecular Genetics
https://www.readbyqxmd.com/read/27770806/rapid-growth-of-mitotically-active-cellular-fibroma-of-the-ovary-a-case-report-and-review-of-the-literature
#15
Katsuya Matsuda, Seiko Tateishi, Yuko Akazawa, Akira Kinoshita, Shiko Yoshida, Sachiko Morisaki, Ai Fukushima, Takahiro Matsuwaki, Koh-Ichiro Yoshiura, Masahiro Nakashima
BACKGROUND: Mitotically active cellular fibroma (MACF) of the ovary, characterized by relatively high mitotic activity without severe atypia, represents a relatively new disease entity. MACF is categorized as a benign ovarian tumor. However, due to a limited number of case reports, its clinical and pathological features and optimum management remains largely undetermined. Herein, we report on a rare case of MACF that grew rapidly in size and was diagnosed on detailed pathological examination...
October 22, 2016: Diagnostic Pathology
https://www.readbyqxmd.com/read/27770608/non-canonical-expression-patterns-and-evolutionary-rates-of-sex-biased-genes-in-a-seasonal-fish
#16
Miguel P Machado, Isa Matos, Ana R Grosso, Manfred Schartl, Maria M Coelho
Sex determination is a highly variable process that utilizes many different mechanisms to initiate the cascade of differentiation processes. The molecular pathways controlling sexual development are less conserved than previously assumed, and appear to require active maintenance in some species; indeed, the developmental decision of gonad phenotype in gonochoristic species is not fixed at an early developmental stage. Much of the knowledge about sex determination mechanisms was derived from research on gonochoristic, non-seasonal breeders...
December 2016: Molecular Reproduction and Development
https://www.readbyqxmd.com/read/27729108/characteristics-and-outcome-of-recurrence-in-molecularly-defined-adult-type-ovarian-granulosa-cell-tumors
#17
Saara Bryk, Anniina Färkkilä, Ralf Bützow, Arto Leminen, Johanna Tapper, Markku Heikinheimo, Leila Unkila-Kallio, Annika Riska
OBJECTIVE: Adult-type ovarian granulosa cell tumors (AGCTs) have an unpredictable tendency to relapse. In a carefully validated patient cohort, we evaluated the prognostic factors related to AGCT recurrence. METHODS: We identified all patients diagnosed with AGCT during 1956-2014 in Helsinki University Hospital, with a minimum follow-up of one year (n=240). After a histological review supplemented with FOXL2 (402C-G) mutation status analysis, we analyzed the clinical data for association with relapse...
December 2016: Gynecologic Oncology
https://www.readbyqxmd.com/read/27683263/smad3-activation-a-converging-point-of-dysregulated-tgf-beta-superfamily-signaling-and-genetic-aberrations-in-granulosa-cell-tumor-development
#18
Xin Fang, Yang Gao, Qinglei Li
Ovarian granulosa cell tumors (GCTs) are rare gynecologic tumors in women. Due to the rarity and limited research efforts invested, the etiology of GCTs remains poorly defined. A landmark study has discovered the mutation of forkhead box L2 (FOXL2) as a genetic hallmark of adult GCTs in the human. However, our understanding of the role of cell signaling in GCT development is far from complete. Increasing lines of evidence highlight the importance of TGF-beta (TGFB) superfamily signaling in the pathogenesis of GCTs...
November 2016: Biology of Reproduction
https://www.readbyqxmd.com/read/27649576/the-distribution-and-cellular-lineages-of-xx-and-xy-cells-in-gonads-associated-with-ovotesticular-disorder-of-sexual-development
#19
Noriko Nishina-Uchida, Ryuji Fukuzawa, Tomohiro Ishii, Matthew R Anaka, Tomonobu Hasegawa, Yukihiro Hasegawa
Individuals with a 46,XX/46,XY karyotype are categorized as ovotesticular disorder of sexual development (ODSD) and have gonads with either an ovary on one side and a testis on the other side or a mixed ovotestis. To examine the distribution of 46,XX and 46,XY cells in gonads of 3 patients with ODSD, FISH for X and Y chromosomes and immunohistochemistry for SOX9 and FOXL2 were carried out. FISH analysis showed that XX signals were present in Sertoli cells in the seminiferous tubules, while cells containing Y signals were seen in epithelia of ovarian follicles...
2016: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://www.readbyqxmd.com/read/27649556/involvement-of-foxl2-and-rspo1-in-ovarian-determination-development-and-maintenance-in-mammals
#20
Maëlle Pannetier, Anne-Amandine Chassot, Marie-Christine Chaboissier, Eric Pailhoux
In mammals, sex determination is a process through which the gonad is committed to differentiate into a testis or an ovary. This process relies on a delicate balance between genetic pathways that promote one fate and inhibit the other. Once the gonad is committed to the female pathway, ovarian differentiation begins and, depending on the species, is completed during gestation or shortly after birth. During this step, granulosa cell precursors, steroidogenic cells, and primordial germ cells start to express female-specific markers in a sex-dimorphic manner...
2016: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
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