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https://www.readbyqxmd.com/read/27885666/differential-expression-of-foxl2-and-cyp19a1a-mrna-during-gonad-developmental-stages-in-great-sturgeon-huso-huso
#1
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
#2
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
#3
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
#4
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-granulosa-cell-tumors
#5
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...
October 31, 2016: Journal of Molecular Diagnostics: JMD
https://www.readbyqxmd.com/read/27801941/non-coding-variation-in-disorders-of-sex-development
#6
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
#7
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
#8
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
#9
M P Machado, I Matos, A R Grosso, M Schartl, M 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...
October 22, 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
#10
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
#11
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...
September 28, 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
#12
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
#13
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
https://www.readbyqxmd.com/read/27648785/composite-serous-borderline-tumor-and-adult-granulosa-cell-tumor-like-area-is-it-a-true-neoplastic-agct-or-tumor-like-proliferation
#14
Jun Yu, Xiu Nie
We report the 402C-G FOXL2 mutation status in 1 epithelial ovarian lesion in a 38-yr-old woman showing stromal proliferations that were morphologically indistinguishable from adult granulosa cell tumor (AGCT). The lesion was a serous borderline tumor. The AGCT-like components were distributed within the septa and cyst walls. FOXL2 mutation was absent. The combination of an epithelial neoplasm and AGCT-like areas is rare but described. The AGCT-like components are likely to be tumor-like proliferations but not truly neoplastic AGCT...
September 17, 2016: International Journal of Gynecological Pathology
https://www.readbyqxmd.com/read/27634218/dna-methylation-profiling-of-esophageal-adenocarcinoma-using-methylation-ligation-dependent-macroarray-mlm
#15
Isabelle Guilleret, Lorena Losi, Sonia T Chelbi, Sergio Fonda, Stéphanie Bougel, Sara Saponaro, Gaia Gozzi, Loredana Alberti, Richard Braunschweig, Jean Benhattar
Most types of cancer cells are characterized by aberrant methylation of promoter genes. In this study, we described a rapid, reproducible, and relatively inexpensive approach allowing the detection of multiple human methylated promoter genes from many tissue samples, without the need of bisulfite conversion. The Methylation Ligation-dependent Macroarray (MLM), an array-based analysis, was designed in order to measure methylation levels of 58 genes previously described as putative biomarkers of cancer. The performance of the design was proven by screening the methylation profile of DNA from esophageal cell lines, as well as microdissected formalin-fixed and paraffin-embedded (FFPE) tissues from esophageal adenocarcinoma (EAC)...
October 14, 2016: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/27604691/the-genetic-make-up-of-ovarian-development-and-function-the-focus-on-the-transcription-factor-foxl2
#16
Maëva Elzaiat, Anne-Laure Todeschini, Sandrine Caburet, Reiner A Veitia
In a 46, XY individual, the presence of the Y chromosome harboring the testis-determining factor (SRY) triggers testis determination and differentiation. In a 46, XX individual, the absence of SRY along with the activation of genes associated with the female pathway leads to ovarian development. The latter process has long been considered as a default pathway. However, recent studies have cast doubts on this dogma. Here, after a brief overview of the main steps of ovarian development, we focus on three genes WNT4, RSPO1 and FOXL2 that are essential for ovarian determination, differentiation and/or maintenance...
September 8, 2016: Clinical Genetics
https://www.readbyqxmd.com/read/27603904/identification-of-multiple-gene-mutations-accounts-for-a-new-genetic-architecture-of-primary-ovarian-insufficiency
#17
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, 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...
September 7, 2016: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/27585489/gli1-progenitor-cells-in-the-adrenal-capsule-of-the-adult-mouse-give-rise-to-heterotopic-gonadal-like-tissue
#18
Julia Dörner, Verena Martinez Rodriguez, Ricarda Ziegler, Theresa Röhrig, Rebecca S Cochran, Ronni M Götz, Mark D Levin, Marjut Pihlajoki, Markku Heikinheimo, David B Wilson
As certain strains of mice age, hyperplastic lesions resembling gonadal tissue accumulate beneath the adrenal capsule. Gonadectomy (GDX) accelerates this heterotopic differentiation, resulting in the formation of wedge-shaped adrenocortical neoplasms that produce sex steroids. Stem/progenitor cells that reside in the adrenal capsule and retain properties of the adrenogonadal primordium are thought to be the source of this heterotopic tissue. Here, we demonstrate that GLI1(+) progenitors in the adrenal capsule give rise to gonadal-like cells that accumulate in the subcapsular region...
August 29, 2016: Molecular and Cellular Endocrinology
https://www.readbyqxmd.com/read/27583788/foxl3-a-target-of-mir-9-stimulates-spermatogenesis-in-spermatogonia-during-natural-sex-change-in-monopterus-albus
#19
Yu Gao, Dan Jia, Qing Hu, Dapeng Li
Two foxl2 paralogs, foxl2 (also named foxl2a) and foxl3 (also named foxl2b) were considered as fish-specific duplicates. Both belong to the Forkhead box family of transcription factors, which play important roles in regulating reproduction involved in sexual differentiation and regulation of primordial germ cell and gonadal somatic cell development. We isolated the complete foxl3 cDNA from the rice field eel (Monopterus albus), which undergoes a natural female-to-male sex change via an intersex stage during its life cycle...
September 1, 2016: Endocrinology
https://www.readbyqxmd.com/read/27544059/validation-of-the-shox2-ptger4-dna-methylation-marker-panel-for-plasma-based-discrimination-between-malignant-and-non-malignant-lung-disease-patients
#20
Anne Schlegel, Denise Kottwitz, Thomas König, Reimo Tetzner, Gunter Weiss
INTRODUCTION: Low-dose computed tomography (LDCT) is used for screening for lung cancer (LC) in high risk patients in the US. The definition of high risk and the impact of frequent LDCT false positive results remains a challenge. DNA methylation biomarkers are valuable non-invasive diagnostic tools for cancer detection. This study reports on the evaluation of methylation markers in plasma DNA for LC detection, and discrimination of malignant from non-malignant lung disease. METHODS: Circulating DNA was extracted from 3...
August 17, 2016: Journal of Thoracic Oncology
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