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https://www.readbyqxmd.com/read/29090230/genetic-screening-of-iranian-patients-with-46-xy-disorders-of-sex-development
#1
Azadeh Shojaei, Reza Ebrahimzadeh-Vesal, Ali Ahani, Maryam Razzaghy-Azar, Golnaz Khakpour, Farideh Ghazi, Javad Tavakkoly-Bazzaz
BACKGROUND: Disorders of sex development (DSDs) belong to uncommon pathologies and result from abnormalities during gonadal determination and differentiation. Various gene mutations involved in gonadal determination and differentiation have been associated with gonadal dysgenesis. Despite advances in exploration of genes and mechanisms involved in sex disorders, most children with severe 46,XY DSDs have no definitive etiological diagnoses; therefore, the possibility that other genes or loci might play important roles in these disorders needs to be explored...
October 2017: Reports of Biochemistry & Molecular Biology
https://www.readbyqxmd.com/read/28963671/dimorphic-expression-of-sex-related-genes-in-different-gonadal-development-stages-of-sterlet-acipenser-ruthenus-a-primitive-fish-species
#2
Wei Wang, Hua Zhu, Ying Dong, ZhaoHui Tian, Tian Dong, HongXia Hu, CuiJuan Niu
Molecular mechanism of sex determination and differentiation of sturgeon, a primitive fish species, is extraordinarily important due to the valuable caviar; however, it is still poorly known. The present work aimed to identify the major genes involved in regulating gonadal development of sterlet, a small species of sturgeon, from 13 candidate genes which have been shown to relate to gonadal differentiation and development in other teleost fish. The sex and gonadal development of sterlets were determined by histological observation and levels of sex steroids testosterone (T), 11-ketotestosterone (11-KT), and 17β-estradiol (E2) in serum...
December 2017: Fish Physiology and Biochemistry
https://www.readbyqxmd.com/read/28924487/a-novel-stop-mutation-p-gln22-of-dax1-nr0b1-results-in-late-onset-x-linked-adrenal-hypoplasia-congenita
#3
Judith Gerards, Michael M Ritter, Elke Kaminsky, Andreas Gal, Wolfgang Hoeppner, Marcus Quinkler
DAX1 (NR0B1) is an orphan nuclear receptor, which plays an important role in development and function of the adrenal glands and gonads. Mutations in DAX1 cause X-linked adrenal hypoplasia congenita (X-linked AHC), which is characterized by adrenal insufficiency (AI) and hypogonadotropic hypogonadism (HHG). Affected boys present with adrenal failure usually in childhood and, later in life, with delayed puberty. However, patients with a late-onset form of X-linked AHC have also been described in the past years...
2017: Endocrinology, Diabetes & Metabolism Case Reports
https://www.readbyqxmd.com/read/28893949/timing-of-adrenal-regression-controlled-by-synergistic-interaction-between-sf1-sumoylation-and-dax1
#4
Yewei Xing, Ken-Ichirou Morohashi, Holly A Ingraham, Gary D Hammer
The nuclear receptor steroidogenic factor 1 (Sf1, Nr5a1, Ad4bp) is crucial for formation, development and function of steroidogenic tissues. A fetal adrenal enhancer (FAdE) in the Sf1 gene was previously identified to direct Sf1 expression exclusively in the fetal adrenal cortex and is bound by both Sf1 and Dax1. Here, we have examined the function of Sf1 SUMOylation and its interaction with Dax1 on FAdE function. A diffused prolonged pattern of FAdE expression and delayed regression of the postnatal fetal cortex (X-zone) were detected in both the SUMOylation-deficient-Sf1(2KR/2KR) and Dax1 knockout mouse lines, with FAdE expression/activity retained in the postnatal 20αHSD-positive postnatal X-zone cells...
October 15, 2017: Development
https://www.readbyqxmd.com/read/28457890/context-dependent-functions-of-nanog-phosphorylation-in-pluripotency-and-reprogramming
#5
Arven Saunders, Dan Li, Francesco Faiola, Xin Huang, Miguel Fidalgo, Diana Guallar, Junjun Ding, Fan Yang, Yang Xu, Hongwei Zhou, Jianlong Wang
The core pluripotency transcription factor NANOG is critical for embryonic stem cell (ESC) self-renewal and somatic cell reprogramming. Although NANOG is phosphorylated at multiple residues, the role of NANOG phosphorylation in ESC self-renewal is incompletely understood, and no information exists regarding its functions during reprogramming. Here we report our findings that NANOG phosphorylation is beneficial, although nonessential, for ESC self-renewal, and that loss of phosphorylation enhances NANOG activity in reprogramming...
May 9, 2017: Stem Cell Reports
https://www.readbyqxmd.com/read/28397603/masculinization-related-genes-and-cell-mass-structures-during-early-gonadal-differentiation-in-the-african-clawed-frog-xenopus-laevis
#6
Mikako Wada, Kazuko Fujitani, Kei Tamura, Shuuji Mawaribuchi, Yosuke Kamata, Nobuhiko Takamatsu, Michihiko Ito
The African clawed frog Xenopus laevis has a female heterogametic ZZ/ZW-type sex-determining system. We previously discovered a W-linked female sex-determining gene dm-W that is involved in ovary formation, probably through the up-regulation of the estrogen synthesis genes cyp19a1 and foxl2. We also reported that a unique "mass-in-line structure", which disappears from ZZ gonads during early testicular development, might serve as the basis for ovary differentiation in ZW gonads. However, the molecular mechanisms underlying early masculinization are poorly understood...
April 2017: Zoological Science
https://www.readbyqxmd.com/read/28251550/the-mystery-of-puberty-initiation-genetics-and-epigenetics-of-idiopathic-central-precocious-puberty-icpp
#7
REVIEW
Sofia Leka-Emiri, George P Chrousos, Christina Kanaka-Gantenbein
Puberty is a major developmental stage. Damaging mutations, considered as "mistakes of nature", have contributed to the unraveling of the networks implicated in the normal initiation of puberty. Genes involved in the abnormal hypothalamic-pituitary-gonadal (HPG) axis development, in the normosmic idiopathic hypogonadotropic hypogonadism (nIHH), in the X-linked or autosomal forms of Kallmann syndrome and in precocious puberty have been identified (GNRH1, GNRHR, KISS1, GPR54, FGFR1, FGF8, PROK2, PROKR2, TAC3, TACR3, KAL1, PROK2, PROKR2, CHD7, LEP, LEPR, PC1, DAX1, SF-1, HESX-1, LHX3, PROP-1)...
August 2017: Journal of Endocrinological Investigation
https://www.readbyqxmd.com/read/28120505/dopamine-receptor-type-2-drd2-and-somatostatin-receptor-type-2-sstr2-agonists-are-effective-in-inhibiting-proliferation-of-progenitor-stem-like-cells-isolated-from-nonfunctioning-pituitary-tumors
#8
E Peverelli, E Giardino, D Treppiedi, M Meregalli, M Belicchi, V Vaira, S Corbetta, C Verdelli, E Verrua, A L Serban, M Locatelli, G Carrabba, G Gaudenzi, E Malchiodi, L Cassinelli, A G Lania, S Ferrero, S Bosari, G Vitale, Y Torrente, A Spada, G Mantovani
The role of progenitor/stem cells in pituitary tumorigenesis, resistance to pharmacological treatments and tumor recurrence is still unclear. This study investigated the presence of progenitor/stem cells in non-functioning pituitary tumors (NFPTs) and tested the efficacy of dopamine receptor type 2 (DRD2) and somatostatin receptor type 2 (SSTR2) agonists to inhibit in vitro proliferation. They found that 70% of 46 NFPTs formed spheres co-expressing stem cell markers, transcription factors (DAX1, SF1, ERG1) and gonadotropins...
April 15, 2017: International Journal of Cancer. Journal International du Cancer
https://www.readbyqxmd.com/read/27711951/novel-heterozygous-genetic-variants-in-patients-with-46-xy-gonadal-dysgenesis
#9
Vasundhera Chauhan, Viveka P Jyotsna, Vandana Jain, Rajesh Khadgawat, Rima Dada
46,XY gonadal dysgenesis (GD) constitutes a rare group of disorders characterized by the presence of dysfunctional testes in genotypic males. The molecular etiology is not known in about 2 thirds of instances. The aim of this study was to identify the genetic cause in patients with 46,XY gonadal dysgenesis. Based on clinical, cytogenetic, and biochemical screening, 10 patients with 46,XY GD were recruited. Direct sequencing of SRY, NR5A1, SOX9, DAX1, DHH, DMRT1 genes was carried out for molecular analysis. Among 10 patients, 5 were diagnosed with complete gonadal dysgenesis (CGD), 3 with partial gonadal dysgenesis (PGD), and 3 with testicular agenesis...
January 2017: Hormone and Metabolic Research, Hormon- und Stoffwechselforschung, Hormones et Métabolisme
https://www.readbyqxmd.com/read/27601327/esrrb-directly-binds-to-gata6-promoter-and-regulates-its-expression-with-dax1-and-ncoa3
#10
Kousuke Uranishi, Tadayuki Akagi, Hiroshi Koide, Takashi Yokota
Estrogen-related receptor beta (Esrrb) is expressed in embryonic stem (ES) cells and is involved in self-renewal ability and pluripotency. Previously, we found that Dax1 is associated with Esrrb and represses its transcriptional activity. Further, the disruption of the Dax1-Esrrb interaction increases the expression of the extra-embryonic endoderm marker Gata6 in ES cells. Here, we investigated the influences of Esrrb and Dax1 on Gata6 expression. Esrrb overexpression in ES cells induced endogenous Gata6 mRNA and Gata6 promoter activity...
September 30, 2016: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/27267667/nr0b1-dax1-mutation-in-zebrafish-causes-female-to-male-sex-reversal-through-abnormal-gonadal-proliferation-and-differentiation
#11
Sijie Chen, Hefei Zhang, Fenghua Wang, Wei Zhang, Gang Peng
Sex determinations are diverse in vertebrates. Although many sex-determining genes and pathways are conserved, the mechanistic roles of these genes and pathways in the genetic sex determination are not well understood. DAX1 (encoded by the NR0B1 gene) is a vertebrate specific orphan nuclear receptor that regulates gonadal development and sexual determination. In human, duplication of the NR0B1 gene leads to male-to-female sex reversal. In mice, Nr0b1 shows both pro-testis and anti-testis functions. We generated inheritable nr0b1 mutation in the zebrafish and found the nr0b1 mutation caused homozygous mutants to develop as fertile males due to female-to-male sex reversal...
September 15, 2016: Molecular and Cellular Endocrinology
https://www.readbyqxmd.com/read/27264242/the-emerging-roles-of-orphan-nuclear-receptors-in-prostate-cancer
#12
REVIEW
Dinglan Wu, Alyson Cheung, Yuliang Wang, Shan Yu, Franky L Chan
Orphan nuclear receptors are members of the nuclear receptor (NR) superfamily and are so named because their endogenous physiological ligands are either unknown or may not exist. Because of their important regulatory roles in many key physiological processes, dysregulation of signalings controlled by these receptors is associated with many diseases including cancer. Over years, studies of orphan NRs have become an area of great interest because their specific physiological and pathological roles have not been well-defined, and some of them are promising drug targets for diseases...
August 2016: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/27228460/rfx1-maintains-testis-cord-integrity-by-regulating-the-expression-of-itga6-in-male-mouse-embryos
#13
Bo Wang, Tao Qi, Shi-Qin Chen, Lei Ye, Zhan-Sen Huang, Hao Li
Formation and maintenance of testis cords during embryogenesis are essential for establishing testicular structure and function in adults. At least five genes (Wt1, Dhh, Sox8/Sox9, and Dax1) appear to be required for the maintenance of testis cord integrity in mice. Here, we report that RFX1 is specifically expressed in fetal Sertoli cells. Mouse embryos conditionally deficient in Rfx1 (Rfx1(flox/flox) , Amh-Cre) possessed disrupted testis cords, as the basal lamina lining was fragmented or completely absent in some areas of the testes...
July 2016: Molecular Reproduction and Development
https://www.readbyqxmd.com/read/27035099/x-linked-adrenal-hypoplasia-congenita-and-hypogonadotropic-hypogonadism-identification-and-in%C3%A2-vitro-study-of-a-novel-small-indel-in-the-nr0b1-gene
#14
Tingting Yu, Jian Wang, Yongguo Yu, Xiaodong Huang, Qihua Fu, Yiping Shen, Fuxiang Chen
DAX1 is an orphan nuclear receptor that has a key role in the development and function of the adrenal and reproductive axes. Mutations in NR0B1, the gene encoding DAX1, result in X-linked adrenal hypoplasia congenita (AHC) and hypogonadotropic hypogonadism (HHG). A Chinese pedigree with X-linked AHC and HHG was investigated in the present study. Sequence analysis identified a novel small indel variant, c.195_207delinsTG, in the NR0B1 gene. To determine the effect of this variant on DAX1 expression, reverse‑transcription quantitative PCR and western blot assays were performed...
May 2016: Molecular Medicine Reports
https://www.readbyqxmd.com/read/27026067/x-linked-adrenal-hypoplasia-congenita-due-to-nr0b1-dax1-deficiency-presenting-as-severe-respiratory-distress-in-near-term-infants
#15
Tijen Karsli, Jennifer Sutter, Prem S Shekhawat
No abstract text is available yet for this article.
February 24, 2016: Pediatrics and Neonatology
https://www.readbyqxmd.com/read/27007510/a-cytogenomic-approach-in-a-case-of-syndromic-xy-gonadal-dysgenesis
#16
Milena Simioni, Isabella Lopes Monlleó, Camila M Costa de Queiroz, Ilanna Fragoso Peixoto Gazzaneo, Diogo L Lima do Nascimento, Reinaldo Luna de Omena Filho, Cristiane Santos da Cruz Piveta, Maricilda Palandi de Mello, Vera L Gil-da-Silva-Lopes
This is the first molecular characterization of a female XY patient with an Xp duplication due to an X;22 translocation. Array CGH detected a copy number gain of ∼36 Mb in the Xp22.33p21.1 region involving 150 genes. Clinical and molecular studies described in the literature have suggested DAX1 duplication as the major cause responsible for a sex reversal phenotype. Additionally, the interaction between genes and their possible role in clinical features are presented to support the discussion on genotype-phenotype correlation in cases of syndromic XY gonadal dysgenesis...
2016: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://www.readbyqxmd.com/read/26792939/testis-cord-maintenance-in-mouse-embryos-genes-and-signaling
#17
REVIEW
Su-Ren Chen, Yi-Xun Liu
Testis cords, embryonic precursors of the seminiferous tubules, are fundamental for testis structure and function. Delay or disruption of testis cord formation could result in gonadal dysgenesis. Although mechanisms regulating testis cord formation during sex determination have been well-studied, the genes and signaling pathways involving in testis cord maintenance after the cords have formed are not well characterized. It is now clear that the maintenance of cord structure is an active process. In this review, we summarize the recent findings regarding the regulation of testis cord integrity by a series of Sertoli cell transcription factors, including the WT1-SOX8/SOX9-beta-CATENIN-DHH network, GPR56, STIM1, and NR0B1 (also known as DAX1)...
February 2016: Biology of Reproduction
https://www.readbyqxmd.com/read/26578091/molecular-cloning-and-characterization-of-amh-and-dax1-genes-and-their-expression-during-sex-inversion-in-rice-field-eel-monopterus-albus
#18
Qing Hu, Wei Guo, Yu Gao, Rong Tang, Dapeng Li
The full-length cDNAs of amh and dax1 in the hermaphrodite, rice-field eel (Monopterus albus), were cloned and characterized in this study. Multiple sequence alignment revealed Dax1 was well conserved among vertebrates, whereas Amh had a low degree of similarity between different vertebrates. Their expression profiles in gonads during the course of sex inversion and tissues were investigated. The tissue distribution indicated amh was expressed mostly in gonads and was scarcely detectable in other tissues, whereas the expression of dax1 was widespread among the different tissues, especially liver and gonads...
2015: Scientific Reports
https://www.readbyqxmd.com/read/26464492/crispr-cas9-mediated-dax1-knockout-in-the-monkey-recapitulates-human-ahc-hh
#19
Yu Kang, Bo Zheng, Bin Shen, Yongchang Chen, Lei Wang, Jianying Wang, Yuyu Niu, Yiqiang Cui, Jiankui Zhou, Hong Wang, Xuejiang Guo, Bian Hu, Qi Zhou, Jiahao Sha, Weizhi Ji, Xingxu Huang
Mutations in the DAX1 locus cause X-linked adrenal hypoplasia congenita (AHC) and hypogonadotropic hypogonadism (HH), which manifest with primary adrenal insufficiency and incomplete or absent sexual maturation, respectively. The associated defects in spermatogenesis can range from spermatogenic arrest to Sertoli cell only syndrome. Conclusions from Dax1 knockout mouse models provide only limited insight into AHC/HH disease mechanisms, because mouse models exhibit more extensive abnormalities in testicular development, including disorganized and incompletely formed testis cords with decreased number of peritubular myoid cells and male-to-female sex reversal...
December 20, 2015: Human Molecular Genetics
https://www.readbyqxmd.com/read/26448365/presence-of-21-hydroxylase-antibodies-in-a-boy-with-x-linked-adrenal-hypoplasia-congenita
#20
Shipra Bansal, Salvador Castells, Vatcharapan Umpaichitra, Sheila Perez-Colon
BACKGROUND: X-linked adrenal hypoplasia congenita is a rare cause of primary adrenal insufficiency (PAI) in children due to mutations in NR0B1/DAX1 (nuclear receptor subfamily 0, group B, member 1/dosage-sensitive sex reversal-adrenal hypoplasia congenita at the critical region of the X chromosome, gene 1). Another rare cause of PAI in children is autoimmune adrenal disease (AAD) which could be either isolated or as part of autoimmune polyglandular syndrome. Antibody to major auto-antigen, 21-hydroxylase, is highly specific for AAD...
2015: Hormone Research in Pædiatrics
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