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https://www.readbyqxmd.com/read/29896840/17q21-32-q22-deletion-in-a-girl-with-osteogenesis-imperfecta-tricho-dento-osseous-syndrome-and-intellectual-disability
#1
Takayuki Yokoi, Toshiyuki Saito, Jun-Ichi Nagai, Kenji Kurosawa
The17q21q22 region contains COL1A1 and DLX3. COL1A1 haploinsufficiency mutations and heterozygous deletion of the entire COL1A1 gene lead to the mildest form of Osteogenesis Imperfecta (OI) type 1 (Bardai et al., 2015; Mannstadt et al., 2014; van Dijk et al., 2010).
June 12, 2018: Congenital Anomalies
https://www.readbyqxmd.com/read/29752438/role-of-fgfr2b-expression-and-signaling-in-keratinocyte-differentiation-sequential-involvement-of-pkc%C3%AE-and-pkc%C3%AE
#2
Benedetta Rosato, Danilo Ranieri, Monica Nanni, Maria Rosaria Torrisi, Francesca Belleudi
The tumor suppressor epithelial isoform of the fibroblast growth factor receptor 2 (FGFR2b) induces human keratinocyte early differentiation. Moreover, protein kinases C (PKCs) are known to regulate the differentiation program in several cellular contexts, including keratinocytes. Therefore, in this paper we propose to clarify if FGFR2b could play a role also in the late steps of keratinocyte differentiation and to assess if this receptor-induced process would sequentially involve PKCδ and PKCα isoforms. Immunofluorescence, biochemical, and molecular approaches, performed on 2D cultures or 3D organotypic rafts of human keratinocytes overexpressing FGFR2b by stable transduction, showed that receptor signaling induced the precocious onset and an accelerated progression of keratinocyte differentiation, indicating that FGFR2b is a crucial regulator of the entire program of keratinocyte differentiation...
May 11, 2018: Cell Death & Disease
https://www.readbyqxmd.com/read/29745813/pleiotropic-function-of-dlx3-in-amelogenesis-from-regulating-ph-and-keratin-expression-to-controlling-enamel-rod-decussation
#3
Olivier Duverger, Maria I Morasso
DLX3 is essential for tooth enamel development and is so far the only transcription factor known to be mutated in a syndromic form of amelogenesis imperfecta. Through conditional deletion of Dlx3 in the dental epithelium in mouse, we have previously established the involvement of DLX3 in enamel pH regulation, as well as in controlling the expression of sets of keratins that contribute to enamel rod sheath formation. Here, we show that the decussation pattern of enamel rods was lost in conditional knockout animals, suggesting that DLX3 controls the coordinated migration of ameloblasts during enamel secretion...
December 2018: Connective Tissue Research
https://www.readbyqxmd.com/read/29743241/new-insights-into-the-regulation-of-placental-growth-factor-gene-expression-by-the-transcription-factors-gcm1-and-dlx3-in-human-placenta
#4
Yueh-Ho Chiu, Ming-Ren Yang, Liang-Jie Wang, Ming-Hon Chen, Geen-Dong Chang, Hungwen Chen
Expression of placental growth factor (PGF) is closely associated with placental perfusion in early pregnancy. PGF is primarily expressed in placental trophoblasts, and its expression decreases in preeclampsia, associated with placental hypoxia. The transcription factors glial cells missing 1 (GCM1) and metal-regulatory transcription factor 1 (MTF1) have been implicated in the regulation of PGF gene expression through regulatory elements upstream and downstream of the PGF transcription start site, respectively...
May 9, 2018: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/29604248/mir-675-promotes-odontogenic-differentiation-of-human-dental-pulp-cells-by-epigenetic-regulation-of-dlx3
#5
Li Zeng, Na Zhao, Fang Li, Dong Han, Yang Liu, Haochen Liu, Shichen Sun, Yixiang Wang, Hailan Feng
In a previous study, we showed that microRNA-675 (miR-675) was significantly down-regulated in patients with tricho-dento-osseous (TDO) syndrome. One of the main features of TDO syndrome is dentin hypoplasia. Thus, we hypothesize that miR-675 plays a role in dentin development. In this study, we determined the role of miR-675 in the odontogenic differentiation of human dental pulp cells (hDPCs). Stable overexpression and knockdown of miR-675 in hDPCs were performed using recombinant lentiviruses containing U6 promoter-driven miR-675 and short hairpin-miR675 expression cassettes, respectively...
June 1, 2018: Experimental Cell Research
https://www.readbyqxmd.com/read/29380438/homeobox-transcription-factor-dlx4-is-not-necessary-for-skin-development-and-homeostasis
#6
LETTER
Shreya Bhattacharya, Olivier Duverger, Stephen R Brooks, Maria I Morasso
Dlx4 is a member of a family of homeobox genes with homology to Drosophila distal-less (dll) gene. We show that Dlx4 expression pattern partially overlaps with its cis-linked gene Dlx3 during mouse development as well as in neonatal and adult skin. In mice, Dlx4 is expressed in the branchial arches, embryonic limbs, digits, nose, hair follicle and in the basal and suprabasal layers of mouse interfollicular epidermis. We show that inactivation of Dlx4 in mice did not result in any overtly gross pathology. Skin development, homeostasis and response to TPA treatment were similar in mice with loss of Dlx4 compared to wild-type counterparts...
March 2018: Experimental Dermatology
https://www.readbyqxmd.com/read/29246798/dlx3-dependent-stat3-signaling-in-keratinocytes-regulates-skin-immune-homeostasis
#7
Shreya Bhattacharya, Jin-Chul Kim, Youichi Ogawa, Gaku Nakato, Veronica Nagle, Stephen R Brooks, Mark C Udey, Maria I Morasso
Epidermal-specific deletion of the homeobox transcription regulator DLX3 disrupts keratinocyte differentiation and results in an IL-17-linked psoriasis-like skin inflammation. To identify the epidermal initiating signals produced by DLX3-null keratinocytes, we performed acute deletion of DLX3 in adult epidermis using a tamoxifen-inducible Krt14-cre/ERT system. K14CreERT;DLX3fl/fl skin exhibited dysregulated expression of differentiation-associated genes, upregulation of proinflammatory cytokines, and accumulation of Langerhans cells and macrophages within 3 days of tamoxifen-induced DLX3 ablation...
May 2018: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/29059672/lack-of-association-between-bmp2-dlx3-gene-polymorphisms-and-dental-caries-in-primary-and-permanent-dentitions
#8
Jakub Kastovsky, Petra Borilova Linhartova, Kristina Musilova, Lenka Zackova, Martina Kukletova, Lubomir Kukla, Lydie Izakovicova Holla
The aim of this study was to analyze the association between BMP2 (rs1884302) and DLX3 (rs2278163) gene polymorphisms and dental caries in primary and permanent dentitions. A total of 914 subjects were genotyped by the TaqMan methods: 176 caries-free children (with Decayed/Missing/Filled Teeth, DMFT = 0), 542 patients with dental caries in permanent dentition (DMFT ≥1), 83 caries-free children with primary teeth (with decayed/missing/filled teeth, dmft = 0), and 113 children with early childhood caries (ECC, dmft ≥1)...
October 24, 2017: Caries Research
https://www.readbyqxmd.com/read/28982936/transcriptional-control-of-ifnt-expression
#9
REVIEW
Toshihiko Ezashi, Kazuhiko Imakawa
Once interferon-tau (IFNT) had been identified as a type I IFN in sheep and cattle and its functions were characterized, numerous studies were conducted to elucidate the transcriptional regulation of this gene family. Transfection studies performed largely with human choriocarcinoma cell lines identified regulatory regions of the IFNT gene that appeared responsible for trophoblast-specific expression. The key finding was the recognition that the transcription factor ETS2 bound to a proximal region within the 5'UTR of a bovine IFNT and acted as a strong transactivator...
November 2017: Reproduction: the Official Journal of the Society for the Study of Fertility
https://www.readbyqxmd.com/read/28963438/dlx3-promotes-bone-marrow-mesenchymal-stem-cell-proliferation-through-h19-mir-675-axis
#10
Na Zhao, Li Zeng, Yang Liu, Dong Han, Haochen Liu, Jian Xu, Yuxi Jiang, Cuiying Li, Tao Cai, Hailan Feng, Yixiang Wang
The underlying molecular mechanism of the increased bone mass phenotype in Tricho-dento-osseous (TDO) syndrome remains largely unknown. Our previous study has shown that the TDO point mutation c.533A>G, Q178R in DLX3 could increase bone density in a TDO patient and transgenic mice partially through delaying senescence in bone marrow mesenchymal stem cells (BMSCs). In the present study, we provided a new complementary explanation for TDO syndrome: the DLX3 (Q178R) mutation increased BMSCs proliferation through H19/miR-675 axis...
November 15, 2017: Clinical Science (1979-)
https://www.readbyqxmd.com/read/28954238/rapid-chromatin-switch-in-the-direct-reprogramming-of-fibroblasts-to-neurons
#11
Orly L Wapinski, Qian Yi Lee, Albert C Chen, Rui Li, M Ryan Corces, Cheen Euong Ang, Barbara Treutlein, Chaomei Xiang, Valérie Baubet, Fabian Patrik Suchy, Venkat Sankar, Sopheak Sim, Stephen R Quake, Nadia Dahmane, Marius Wernig, Howard Y Chang
How transcription factors (TFs) reprogram one cell lineage to another remains unclear. Here, we define chromatin accessibility changes induced by the proneural TF Ascl1 throughout conversion of fibroblasts into induced neuronal (iN) cells. Thousands of genomic loci are affected as early as 12 hr after Ascl1 induction. Surprisingly, over 80% of the accessibility changes occur between days 2 and 5 of the 3-week reprogramming process. This chromatin switch coincides with robust activation of endogenous neuronal TFs and nucleosome phasing of neuronal promoters and enhancers...
September 26, 2017: Cell Reports
https://www.readbyqxmd.com/read/28883412/bmp-2-induced-dspp-transcription-is-mediated-by-dlx3-osx-signaling-pathway-in-odontoblasts
#12
Guobin Yang, Guohua Yuan, Mary MacDougall, Chen Zhi, Shuo Chen
Dentin sialophosphoprotein (Dspp) as a differentiation marker of odontoblasts is regulated by BMP-2. However, the intimate mechanism is still unknown. Transcription factors Dlx3 and Osx are essential for odontoblasts differentiation. We hypothesized that BMP-2 regulation of Dspp transcription was mediated by Dlx3 and/or Osx in odontoblasts. In the present investigation, we found that BMP-2 stimulated expression and nuclear translocation of Dlx3 and Osx in odontoblasts both in vitro and in vivo. Osx was a downstream target of Dlx3 and both of them stimulated Dsp expression...
September 7, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28718809/maternal-choline-supplementation-alters-fetal-growth-patterns-in-a-mouse-model-of-placental-insufficiency
#13
Julia H King, Sze Ting Cecilia Kwan, Jian Yan, Kevin C Klatt, Xinyin Jiang, Mark S Roberson, Marie A Caudill
Impairments in placental development can adversely affect pregnancy outcomes. The bioactive nutrient choline may mitigate some of these impairments, as suggested by data in humans, animals, and human trophoblasts. Herein, we investigated the effects of maternal choline supplementation (MCS) on parameters of fetal growth in a Dlx3 +/- (distal-less homeobox 3) mouse model of placental insufficiency. Dlx3 +/- female mice were assigned to 1X (control), 2X, or 4X choline intake levels during gestation. Dams were sacrificed at embryonic days E10...
July 18, 2017: Nutrients
https://www.readbyqxmd.com/read/28670783/a-de-novo-germline-mutation-of-dlx3-in-a-brown-swiss-calf-with-tricho-dento-osseus-like-syndrome
#14
Sonja Hofstetter, Monika Welle, Daniela Gorgas, Pierre Balmer, Petra Roosje, Thomas Mock, Mireille Meylan, Vidhya Jagannathan, Cord Drögemüller
OBJECTIVE: A novel congenital disorder affecting a calf was observed, and its phenotype and genetic mutation identified. ANIMAL: A six-month-old female Brown Swiss calf. METHODS: Diagnostic investigation and whole genome sequencing of a case parent trio was performed. RESULTS: The calf had a dull kinky coat with mild hypotrichosis, and teeth with brown staining and enamel defects. Histological examination of skin biopsies was compatible with a follicular dysplasia...
July 2, 2017: Veterinary Dermatology
https://www.readbyqxmd.com/read/28533516/asd-restricted-and-repetitive-behaviors-associated-at-17q21-33-genes-prioritized-by-expression-in-fetal-brains
#15
R M Cantor, L Navarro, H Won, R L Walker, J K Lowe, D H Geschwind
Autism spectrum disorder (ASD) is a behaviorally defined condition that manifests in infancy or early childhood as deficits in communication skills and social interactions. Often, restricted and repetitive behaviors (RRBs) accompany this disorder. ASD is polygenic and genetically complex, so we hypothesized that focusing analyses on intermediate core component phenotypes, such as RRBs, can reduce genetic heterogeneity and improve statistical power. Applying this approach, we mined Caucasian genome-wide association studies (GWAS) data from two of the largest ASD family cohorts, the Autism Genetics Resource Exchange and Autism Genome Project (AGP)...
April 2018: Molecular Psychiatry
https://www.readbyqxmd.com/read/28521150/the-effects-of-copper-oxide-nanoparticles-on-dorsoventral-patterning-convergent-extension-and-neural-and-cardiac-development-of-zebrafish
#16
Jia Xu, Qiuping Zhang, Xu Li, Sihui Zhan, Lifeng Wang, Dongyan Chen
Currently, nanoparticles are widely used in biomedicine and industry. CuO nanoparticles (CuO-NPs) are versatile materials in our daily life and their toxicity has drawn extensive attention. In this study, we concentrate on the effect of CuO-NPs on early zebrafish development. The results reveal that CuO-NPs can induce abnormal phenotypes of a smaller head and eyes and delayed epiboly. The gene expression pattern shows that CuO-NPs spatially narrow the expression of dorsal genes chordin and goosecoid and alter the expression of dlx3, ntl and hgg which are related to the cell migration of gastrulation...
July 2017: Aquatic Toxicology
https://www.readbyqxmd.com/read/28515447/dlx3-interacts-with-gcm1-and-inhibits-its-transactivation-stimulating-activity-in-a-homeodomain-dependent-manner-in-human-trophoblast-derived-cells
#17
Sha Li, Mark S Roberson
The placental transcription factors Distal-less 3 (DLX3) and Glial cell missing-1 (GCM1) have been shown to coordinate the specific regulation of PGF in human trophoblast cell lines. While both factors independently have a positive effect on PGF gene expression, when combined, DLX3 acts as an antagonist to GCM. Despite this understanding, potential mechanisms accounting for this regulatory interaction remain unexplored. We identify physical and functional interactions between specific domains of DLX3 and GCM1 in human trophoblast-derived cells by performing immunoprecipitation and mammalian one hybrid assays...
May 17, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28424525/genome-wide-detection-of-copy-number-variation-in-chinese-indigenous-sheep-using-an-ovine-high-density-600-k-snp-array
#18
Qing Ma, Xuexue Liu, Jianfei Pan, Lina Ma, Yuehui Ma, Xiaohong He, Qianjun Zhao, Yabin Pu, Yingkang Li, Lin Jiang
Copy number variants (CNVs) represent a form of genomic structural variation underlying phenotypic diversity. In this study, we used the Illumina Ovine SNP 600 K BeadChip array for genome-wide detection of CNVs in 48 Chinese Tan sheep. A total of 1,296 CNV regions (CNVRs), ranging from 1.2 kb to 2.3 Mb in length, were detected, representing approximately 4.7% of the entire ovine genome (Oar_v3.1). We combined our findings with five existing CNVR reports to generate a composite genome-wide dataset of 4,321 CNVRs, which revealed 556 (43%) novel CNVRs...
April 19, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28419554/the-major-mir-31-target-genes-stk40-and-lats2-and-their-implications-in-the-regulation-of-keratinocyte-growth-and-hair-differentiation
#19
Liming Luan, Jianyun Shi, Zhengquan Yu, Thomas Andl
Emerging evidence indicates that even subtle changes in the expression of key genes of signalling pathways can have profound effects. MicroRNAs (miRNAs) are masters of subtlety and generally have only mild effects on their target genes. The microRNA miR-31 is one of the major microRNAs in many cutaneous conditions associated with activated keratinocytes, such as the hyperproliferative diseases psoriasis, non-melanoma skin cancer and hair follicle growth. miR-31 is a marker of the hair growth phase, and in our miR-31 transgenic mouse model it impairs the function of keratinocytes...
June 2017: Experimental Dermatology
https://www.readbyqxmd.com/read/28344658/flightless-i-governs-cell-fate-by-recruiting-the-sumo-isopeptidase-senp3-to-distinct-hox-genes
#20
Arnab Nayak, Anja Reck, Christian Morsczeck, Stefan Müller
BACKGROUND: Despite recent studies on the role of ubiquitin-related SUMO modifier in cell fate decisions, our understanding on precise molecular mechanisms of these processes is limited. Previously, we established that the SUMO isopeptidase SENP3 regulates chromatin assembly of the MLL1/2 histone methyltransferase complex at distinct HOX genes, including the osteogenic master regulator DLX3 . A comprehensive mechanism that regulates SENP3 transcriptional function was not understood. RESULTS: Here, we identified flightless-I homolog (FLII), a member of the gelsolin family of actin-remodeling proteins, as a novel regulator of SENP3...
2017: Epigenetics & Chromatin
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