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https://www.readbyqxmd.com/read/27711951/novel-heterozygous-genetic-variants-in-patients-with-46-xy-gonadal-dysgenesis
#1
V Chauhan, V P Jyotsna, V Jain, R Khadgawat, R 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...
October 6, 2016: 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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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
#10
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
#11
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
#12
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
https://www.readbyqxmd.com/read/26260363/a-duplication-upstream-of-sox9-was-not-positively-correlated-with-the-sry%C3%A2-negative-46-xx-testicular-disorder-of-sex-development-a-case-report-and-literature-review
#13
Xin-Yi Xia, Cui Zhang, Tian-Fu Li, Qiu-Yue Wu, Na Li, Wei-Wei Li, Ying-Xia Cui, Xiao-Jun Li, Yi-Chao Shi
The 46,XX male disorder of sex development (DSD) is rarely observed in humans. Patients with DSD are all male with testicular tissue differentiation. The mechanism of sex determination and differentiation remains to be elucidated. In the present case report, an 46,XX inv (9) infertile male negative for the sex‑determining region of the Y chromosome (SRY) gene was examined. This infertile male was systemically assessed by semen analysis, serum hormone testing and gonadal biopsy. Formalin‑fixed and paraffin‑embedded gonad tissues were assessed histochemically...
October 2015: Molecular Medicine Reports
https://www.readbyqxmd.com/read/26030781/clinical-and-molecular-characterization-of-five-spanish-kindreds-with-x-linked-adrenal-hypoplasia-congenita-atypical-findings-and-a-novel-mutation-in-nr0b1
#14
Amaia Rodríguez Estévez, Gustavo Pérez-Nanclares, Joaquin Fernández-Toral, Francisco Rivas-Crespo, Juan P López-Siguero, Ignacio Díez, Gema Grau, Luis Castaño
BACKGROUND: X-linked adrenal hypoplasia congenita (AHC) is caused by NR0B1 (DAX1) gene mutations. Affected male children suffer from adrenal insufficiency, leading to a salt-wasting crisis in early infancy and hypogonadotropic hypogonadism in adulthood. OBJECTIVE: To characterize clinically and at the molecular level a cohort of Spanish patients with AHC. PATIENTS AND METHODS: Nine boys (from five families) with AHC were screened for NR0B1 mutations...
September 2015: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/26024593/genome-wide-identification-evolution-and-expression-analysis-of-nuclear-receptor-superfamily-in-nile-tilapia-oreochromis-niloticus
#15
Yun-Ying Cheng, Wen-Jing Tao, Jin-Lin Chen, Li-Na Sun, Lin-Yan Zhou, Qiang Song, De-Shou Wang
The nuclear receptor (NR) superfamily, which is divided into 7 subfamilies, constitutes one of the largest classes of transcription factors. In this study, through comprehensive database search, we identified all NRs (including 4 novel members) from the tilapia (75), common carp (137), zebrafish (73), fugu (73), tetraodon (72), stickleback (70), medaka (69), coelacanth (55), spotted gar (51) and elephant shark (50). For 21 NRs, two duplicates were found in teleosts, while only one in tetrapods. These duplicates, except those of DAX1, SHP and GCNF found in the elephant shark, were derived from 3R (third round of genome duplication)...
September 10, 2015: Gene
https://www.readbyqxmd.com/read/26003139/intratesticular-alpha1-adrenergic-receptors-mediate-stress-disturbed-transcription-of-steroidogenic-stimulator-nur77-as-well-as-steroidogenic-repressors-dax1-and-arr19-in-leydig-cells-of-adult-rats
#16
Natasa J Stojkov-Mimic, Maja M Bjelic, Sava M Radovic, Aleksandar I Mihajlovic, Srdjan J Sokanovic, Aleksandar Z Baburski, Marija M Janjic, Tatjana S Kostic, Silvana A Andric
The aim of the present study was to define the role of testicular α1-adrenergic receptors (α1-ADRs) in stress-triggered adaptation of testosterone-producing Leydig cells of adult rats. Results showed that in vivo blockade of testicular α1-ADRs prevented partial recovery of circulating androgen levels registered after 10× repeated immobilization stress (10 × IMO). Moreover, α1-ADR-blockade diminished 10 × IMO-triggered recovery of Leydig cell androgen production, and abolished mitochondrial membrane potential recovery...
September 5, 2015: Molecular and Cellular Endocrinology
https://www.readbyqxmd.com/read/25985323/dax1-overexpression-in-pediatric-adrenocortical-tumors-a-synergic-role-with-sf1-in-tumorigenesis
#17
G R V de Sousa, I C Soares, A M Faria, V B Domingues, A Wakamatsu, A M Lerario, V A F Alves, M C N Zerbini, B B Mendonca, M C B V Fragoso, A C Latronico, M Q Almeida
DAX1 transcription factor is a key determinant of adrenogonadal development, acting as a repressor of SF1 targets in steroidogenesis. It was recently demonstrated that DAX1 regulates pluripotency and differentiation in murine embryonic stem cells. In this study, we investigated DAX1 expression in adrenocortical tumors (ACTs) and correlated it with SF1 expression and clinical parameters. DAX1 and SF1 protein expression were assessed in 104 ACTs from 34 children (25 clinically benign and 9 malignant) and 70 adults (40 adenomas and 30 carcinomas)...
August 2015: Hormone and Metabolic Research, Hormon- und Stoffwechselforschung, Hormones et Métabolisme
https://www.readbyqxmd.com/read/25968435/novel-mutations-of-dax1-nr0b1-in-two-chinese-families-with-x-linked-adrenal-hypoplasia-congenita-and-hypogonadotropic-hypogonadism
#18
Guijun Qin, Hongfei Ji, Xialian Li, Xiaokun Ma, Danping Wang
OBJECTIVE: To analyze the DAX1 (NR0B1) (dosage-sensitive sex reversal-adrenal hypoplasia congenita (AHC) critical region on the X chromosome gene 1) gene in two Chinese families with AHC and hypogonadotrophic hypogonadism (HHG). PATIENTS AND METHODS: Two families with 4 affected males, 5 carrier females, and 4 unaffected males were investigated. Sequencing of the entire 1413-bp coding region of DAX1 (NR0B1) gene was performed in both patients and their family members...
July 2015: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/25916112/-dax1-unusual-member-of-nuclear-receptors-superfamily-with-diverse-functions
#19
REVIEW
A S Orekhova, P M Rubtsov
Nuclear receptors (NRs) are ligand-activated transcription factors that play an important role in metabolism, homeostasis, differentiation and development regulation. NRs are also involved in pathogenesis of various diseases. For most of NRs natural ligands are known. Ligand-activated NRs bind specific nucleotide sequences in target genes and induce their expression. DAX1 protein is an unusual member of NR superfamily that does not have ligand and lacks typical DNA-binding domain. It was established 20 years ago that DAX1 plays a critical role in regulation of adrenal and gonadal development and in biosynthesis of steroid hormones, however the molecular mechanisms of its action remained not fully understood...
January 2015: Molekuliarnaia Biologiia
https://www.readbyqxmd.com/read/25772165/nr0b1-is-a-negative-regulator-of-zscan4c-in-mouse-embryonic-stem-cells
#20
Setsuko Fujii, Satomi Nishikawa-Torikai, Yoko Futatsugi, Yayoi Toyooka, Mariko Yamane, Satoshi Ohtsuka, Hitoshi Niwa
Nuclear receptor subfamily 0, group B, member 1 (Nr0b1, also known as Dax1) is regarded as an important component of the transcription factor network that governs pluripotency in mouse embryonic stem (ES) cells. Here we generated inducible knockout ES cells for Nr0b1 using the Cre-loxP system and analyzed its precise function. We succeeded in establishing the Nr0b1-null ES cells and confirmed their pluripotency by showing their contribution to chimeric embryos. However, they proliferated slowly with over-expression of 2-cell stage specific transcripts including Zscan4c, which is known to be involved in telomere elongation in ES cells...
2015: Scientific Reports
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