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https://www.readbyqxmd.com/read/29302581/novel-genetic-associations-between-lung-cancer-and-indoor-radon-exposure
#1
Jung Ran Choi, Sang-Baek Koh, Seong Yong Park, Hye Run Kim, Hyojin Lee, Dae Ryong Kang
Background: Lung cancer is the leading cause of cancer-related death worldwide, for which smoking is considered as the primary risk factor. The present study was conducted to determine whether genetic alterations induced by radon exposure are associated with the susceptible risk of lung cancer in never smokers. Methods: To accurately identify mutations within individual tumors, next generation sequencing was conduct for 19 pairs of lung cancer tissue. The associations of germline and somatic variations with radon exposure were visualized using OncoPrint and heatmap graphs...
December 2017: Journal of Cancer Prevention
https://www.readbyqxmd.com/read/29289388/l-thyroxine-responsive-drop-attacks-in-childhood-benign-hereditary-chorea-a-case-report
#2
Tadashi Shiohama, Hirofumi Ohashi, Kenji Shimizu, Katsunori Fujii, Daiju Oba, Tomozumi Takatani, Mitsuhiro Kato, Naoki Shimojo
Benign hereditary chorea (BHC) is a rare autosomal dominant disease that is characterized by non-progressive chorea with early-childhood-onset, congenital hypothyroidism, and neonatal respiratory distress. Although tetrabenazine and levodopa are partly effective for chorea and drop attacks in some patients, there is no standard treatment option. We herein describe a childhood case of BHC that presented with l-thyroxine-responsive drop attacks. A genetic analysis revealed an interstitial deletion that included two enhancer regions of NKX2-1, providing genetic confirmation of BHC...
December 27, 2017: Brain & Development
https://www.readbyqxmd.com/read/29286389/differentiation-of-mouse-embryonic-stem-cells-into-cortical-interneuron-precursors
#3
David J Tischfield, Stewart A Anderson
GABAergic cortical interneurons are a heterogeneous population of cells that play critical roles in regulating the output of excitatory pyramidal neurons as well as synchronizing the outputs of pyramidal neuron ensembles. Deficits in interneuron function have been implicated in a variety of neuropsychiatric disorders, including schizophrenia, autism, and epilepsy. The derivation of cortical interneurons from embryonic stem cells not only allows for the study of their development and function, but provides insight into the molecular mechanisms underlying the pathogenesis of cortical interneuron-related disorders...
December 3, 2017: Journal of Visualized Experiments: JoVE
https://www.readbyqxmd.com/read/29279377/identification-of-fusion-genes-and-characterization-of-transcriptome-features-in-t-cell-acute-lymphoblastic-leukemia
#4
Bing Chen, Lu Jiang, Meng-Ling Zhong, Jian-Feng Li, Ben-Shang Li, Li-Jun Peng, Yu-Ting Dai, Bo-Wen Cui, Tian-Qi Yan, Wei-Na Zhang, Xiang-Qin Weng, Yin-Yin Xie, Jing Lu, Rui-Bao Ren, Su-Ning Chen, Jian-Da Hu, De-Pei Wu, Zhu Chen, Jing-Yan Tang, Jin-Yan Huang, Jian-Qing Mi, Sai-Juan Chen
T-cell acute lymphoblastic leukemia (T-ALL) is a clonal malignancy of immature T cells. Recently, the next-generation sequencing approach has allowed systematic identification of molecular features in pediatric T-ALL. Here, by performing RNA-sequencing and other genomewide analysis, we investigated the genomic landscape in 61 adult and 69 pediatric T-ALL cases. Thirty-six distinct gene fusion transcripts were identified, with SET-NUP214 being highly related to adult cases. Among 18 previously unknown fusions, ZBTB16-ABL1, TRA-SALL2, and involvement of NKX2-1 were recurrent events...
December 26, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29246927/disruption-of-interneuron-neurogenesis-in-premature-newborns-and-reversal-with-estrogen-treatment
#5
Mahima Tibrewal, Bokun Cheng, Preeti Dohare, Furong Hu, Rana Mehdizadeh, Ping Wang, Deyou Zheng, Zoltan Ungvari, Praveen Ballabh
Preterm-born children suffer from neurobehavioral disorders. Premature birth terminates the hypoxic in utero environment and supply of maternal hormones. As the production of interneurons continues until the end of pregnancy, we hypothesized that premature birth would disrupt interneuron production and restoration of the hypoxic milieu or estrogen treatment might reverse interneuron generation. To test these hypotheses, we quantified interneuronal progenitors in the medial, lateral, and caudal ganglionic eminences (MGE, LGE, and CGE) of preterm- (E29 at D3 and D7) vs...
December 15, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/29237428/nkx2-1-expression-as-a-prognostic-marker-in-early-stage-non-small-cell-lung-cancer
#6
Jorge Moisés, Alfons Navarro, Sandra Santasusagna, Nuria Viñolas, Laureano Molins, José Ramirez, Jeisson Osorio, Adela Saco, Joan Josep Castellano, Carmen Muñoz, Sara Morales, Mariano Monzó, Ramón María Marrades
BACKGROUND: NKX2-1, a key molecule in lung development, is highly expressed in non-small cell lung cancer (NSCLC), particularly in lung adenocarcinoma (ADK), where it is a diagnostic marker. Studies of the prognostic role of NKX2-1 in NSCLC have reported contradictory findings. Two microRNAs (miRNAs) have been associated with NKX2-1: miR-365, which targets NKX2-1; and miR-33a, which is downstream of NKX2-1. We have examined the effect of NKX2-1, miR-365 and miR-33a on survival in a cohort of early-stage NSCLC patients and in sub-groups of patients classified according to the mutational status of TP53, KRAS, and EGFR...
December 13, 2017: BMC Pulmonary Medicine
https://www.readbyqxmd.com/read/29229852/regulatory-networks-specifying-cortical-interneurons-from-human-embryonic-stem-cells-reveal-roles-for-chd2-in-interneuron-development
#7
Kesavan Meganathan, Emily M A Lewis, Paul Gontarz, Shaopeng Liu, Edouard G Stanley, Andrew G Elefanty, James E Huettner, Bo Zhang, Kristen L Kroll
Cortical interneurons (cINs) modulate excitatory neuronal activity by providing local inhibition. During fetal development, several cIN subtypes derive from the medial ganglionic eminence (MGE), a transient ventral telencephalic structure. While altered cIN development contributes to neurodevelopmental disorders, the inaccessibility of human fetal brain tissue during development has hampered efforts to define molecular networks controlling this process. Here, we modified protocols for directed differentiation of human embryonic stem cells, obtaining efficient, accelerated production of MGE-like progenitors and MGE-derived cIN subtypes with the expected electrophysiological properties...
December 11, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29217200/timing-is-everything-reiterative-wnt-bmp-and-ra-signaling-regulate-developmental-competence-during-endoderm-organogenesis
#8
Scott A Rankin, Kyle W McCracken, David M Luedeke, Lu Han, James M Wells, John M Shannon, Aaron M Zorn
A small number of signaling pathways are used repeatedly during organogenesis, and they can have drastically different effects on the same population of cells depending on the embryonic stage. How cellular competence changes over developmental time is not well understood. Here we used Xenopus, mouse, and human pluripotent stem cells to investigate how the temporal sequence of Wnt, BMP, and retinoic acid (RA) signals regulates endoderm developmental competence and organ induction, focusing on respiratory fate...
December 4, 2017: Developmental Biology
https://www.readbyqxmd.com/read/29159607/high-resolution-melting-analysis-hrm-for-mutational-screening-of-dnajc17-gene-in-patients-affected-by-thyroid-dysgenesis
#9
I C Nettore, S Desiderio, E De Nisco, V Cacace, L Albano, N Improda, P Ungaro, M Salerno, A Colao, P E Macchia
BACKGROUND: Congenital hypothyroidism is a frequent disease occurring with an incidence of about 1/1500 newborns/year. In about 75% of the cases, CH is caused by alterations in thyroid morphogenesis, defined "thyroid dysgenesis" (TD). TD is generally a sporadic disease but in about 5% of the cases a genetic origin has been demonstrated. Previous studies indicate that Dnajc17 as a candidate modifier gene for hypothyroidism, since it is expressed in the thyroid bud, interacts with NKX2...
November 20, 2017: Journal of Endocrinological Investigation
https://www.readbyqxmd.com/read/29143419/long-non-coding-rna-rp11-380d23-2-drives-distal-proximal-patterning-of-the-lung-by-regulating-pitx2-expression
#10
Poulomi Banerjee, Harshini Surendran, Kapil Bharti, Kaoru Morishita, Anurag Varshney, Rajarshi Pal
Early lung development is a tightly orchestrated process encompassing (a) formation of definitive endoderm, (b) anteriorization of definitive endoderm followed by (c) specification and maturation of both proximal and distal lung precursors. Several reports detailing the interaction of genes and proteins during lung development are available; however, studies reporting the role(s) of long non-coding RNAs (lncRNA) in lung morphogenesis are limited. To investigate this, we tailored a protocol for differentiation of human induced pluripotent stem cells into distal and proximal lung progenitors to mimic in vivo lung development...
November 16, 2017: Stem Cells
https://www.readbyqxmd.com/read/29142304/maternal-exposure-to-iodine-excess-throughout-pregnancy-and-lactation-induces-hypothyroidism-in-adult-male-rat-offspring
#11
Caroline Serrano-Nascimento, Rafael Barrera Salgueiro, Thiago Pantaleão, Vânia Maria Corrêa da Costa, Maria Tereza Nunes
This study aimed to investigate the consequences of maternal exposure to iodine excess (IE; 0.6 mg NaI/L) throughout pregnancy and lactation on the hypothalamus-pituitary-thyroid axis of the male offspring in adulthood. Maternal IE exposure increased hypothalamic Trh mRNA expression and pituitary Tsh expression and secretion in the adult male offspring. Moreover, the IE-exposed offspring rats presented reduced thyroid hormones levels, morphological alterations in the thyroid follicles, increased thyroid oxidative stress and decreased expression of thyroid differentiation markers (Tshr, Nis, Tg, Tpo, Mct8) and thyroid transcription factors (Nkx2...
November 15, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29111262/overcoming-monocarboxylate-transporter-8-mct8-deficiency-to-promote-human-oligodendrocyte-differentiation-and-myelination
#12
Jae Young Lee, Min Joung Kim, Devy Deliyanti, Michael F Azari, Fernando Rossello, Adam Costin, Georg Ramm, Edouard G Stanley, Andrew G Elefanty, Jennifer L Wilkinson-Berka, Steven Petratos
Cell membrane thyroid hormone (TH) transport can be facilitated by the monocarboxylate transporter 8 (MCT8), encoded by the solute carrier family 16 member 2 (SLC16A2) gene. Human mutations of the gene, SLC16A2, result in the X-linked-inherited psychomotor retardation and hypomyelination disorder, Allan-Herndon-Dudley syndrome (AHDS). We posited that abrogating MCT8-dependent TH transport limits oligodendrogenesis and myelination. We show that human oligodendrocytes (OL), derived from the NKX2.1-GFP human embryonic stem cell (hESC) reporter line, express MCT8...
November 2017: EBioMedicine
https://www.readbyqxmd.com/read/29069744/eight-potential-biomarkers-for-distinguishing-between-lung-adenocarcinoma-and-squamous-cell-carcinoma
#13
Jian Xiao, Xiaoxiao Lu, Xi Chen, Yong Zou, Aibin Liu, Wei Li, Bixiu He, Shuya He, Qiong Chen
Lung adenocarcinoma (LADC) and squamous cell carcinoma (LSCC) are the most common non-small cell lung cancer histological phenotypes. Accurate diagnosis distinguishing between these two lung cancer types has clinical significance. For this study, we analyzed four Gene Expression Omnibus (GEO) datasets (GSE28571, GSE37745, GSE43580, and GSE50081). We then imported the datasets into the Gene-Cloud of Biotechnology Information online platform to identify genes differentially expressed in LADC and LSCC. We identified DSG3 (desmoglein 3), KRT5 (keratin 5), KRT6A (keratin 6A), KRT6B (keratin 6B), NKX2-1 (NK2 homeobox 1), SFTA2 (surfactant associated 2), SFTA3 (surfactant associated 3), and TMC5 (transmembrane channel-like 5) as potential biomarkers for distinguishing between LADC and LSCC...
September 22, 2017: Oncotarget
https://www.readbyqxmd.com/read/28954305/novel-mutations-in-the-nkx2-1-gene-and-the-pax8-gene-in-a-boy-with-brain-lung-thyroid-syndrome
#14
Pia Hermanns, Małgorzata Kumorowicz-Czoch, Helmut Grasberger, Samuel Refetoff, Joachim Pohlenz
Objective To elucidate the molecular mechanism which causes thyroid dysgenesis (TD) in a boy with brain-lung-thyroid syndrome. Design, patients, measurements We describe a patient with TD, respiratory disease and cerebral palsy who is heterozygous for mutations in two different genes, the PAX8 (p.E234K) and the NKX2.1 (p.A329GfsX108). In vitro studies were performed to functionally characterize these mutations. Congenital hypothyroidism (CH) was identified by neonatal screening associated with a hypoplastic thyroid gland...
September 27, 2017: Experimental and Clinical Endocrinology & Diabetes
https://www.readbyqxmd.com/read/28947536/pluripotent-stem-cell-differentiation-reveals-distinct-developmental-pathways-regulating-lung-versus-thyroid-lineage-specification
#15
Maria Serra, Konstantinos-Dionysios Alysandratos, Finn Hawkins, Katherine B McCauley, Anjali Jacob, Jinyoung Choi, Ignacio S Caballero, Marall Vedaie, Anita A Kurmann, Laertis Ikonomou, Anthony N Hollenberg, John M Shannon, Darrell N Kotton
The in vitro-directed differentiation of pluripotent stem cells (PSCs) through stimulation of developmental signaling pathways can generate mature somatic cell types for basic laboratory studies or regenerative therapies. However, there has been significant uncertainty regarding a method to separately derive lung versus thyroid epithelial lineages, as these two cell types each originate from Nkx2-1+ foregut progenitors and the minimal pathways claimed to regulate their distinct lineage specification in vivo or in vitro have varied in previous reports...
November 1, 2017: Development
https://www.readbyqxmd.com/read/28922831/the-transcription-factors-coup-tfi-and-coup-tfii-have-distinct-roles-in-arealisation-and-gabaergic-interneuron-specification-in-the-early-human-fetal-telencephalon
#16
Ayman Alzu'bi, Susan J Lindsay, Lauren F Harkin, Jack McIntyre, Steven N Lisgo, Gavin J Clowry
In human telencephalon at 8-12 postconceptional weeks, ribonucleic acid quantitative sequencing and immunohistochemistry revealed cortical chicken ovalbumin upstream promotor-transcription factor 1 (COUP-TFI) expression in a high ventro-posterior to low anterior gradient except for raised immunoreactivity in the anterior ventral pallium. Unlike in mouse, COUP-TFI and SP8 were extensively co-expressed in dorsal sensory neocortex and dorsal hippocampus whereas COUPTFI/COUPTFII co-expression defined ventral temporal cortex and ventral hippocampus...
October 1, 2017: Cerebral Cortex
https://www.readbyqxmd.com/read/28842991/the-amniotic-fluid-as-a-source-of-mesenchymal-stem-cells-with-lung-specific-characteristics
#17
Flore Lesage, Silvia Zia, Julio Jiménez, Jan Deprest, Jaan Toelen
The amniotic fluid is a clinically accessible source of mesenchymal stem cells (AF-MSC) during gestation, which enables autologous cellular therapy for perinatal disorders. The origin of AF-MSC remains elusive: renal and neuronal progenitors have been isolated from the AF-MSC pool, yet no cells with pulmonary characteristics. We analyzed gene expression of pulmonary and renal markers of 212 clonal lines of AF-MSC isolated from amniocentesis samples. AF-MSC were cultured on dishes coated with extracellular matrix (ECM) proteins from decellularized fetal rabbit lungs...
August 26, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28839101/hyperoxia-treatment-of-trek-1-trek-2-traak-deficient-mice-is-associated-with-a-reduction-in-surfactant-proteins
#18
Andreas Schwingshackl, Benjamin Lopez, Bin Teng, Charlean L Luellen, Florian Lesage, John Belperio, Riccardo Olcese, Christopher M Waters
We previously proposed a role for the 2-pore domain potassium (K2P) channel TREK-1 in hyperoxia (HO)-induced lung injury. To determine whether redundancy between the 3 TREK isoforms (TREK-1, TREK-2, TRAAK) could protect from HO-induced injury, we now examined the effect of deletion of all 3 TREK isoforms in a clinically relevant scenario of prolonged HO exposure and mechanical ventilation (MV). We exposed WT and TREK-1/TREK-2/TRAAK-deficient (triple ko) mice to either room air, 72 hours HO, MV (high and low tidal volume), or a combination of HO+MV, and measured quasi-static lung compliance, BAL protein concentration, histologic lung injury scores (LIS), cellular apoptosis, and cytokine levels...
August 24, 2017: American Journal of Physiology. Lung Cellular and Molecular Physiology
https://www.readbyqxmd.com/read/28838957/vascular-endothelium-plays-a-key-role-in-directing-pulmonary-epithelial-cell-differentiation
#19
Jiayi Yao, Pierre J Guihard, Xiuju Wu, Ana M Blazquez-Medela, Melissa J Spencer, Medet Jumabay, Peter Tontonoz, Alan M Fogelman, Kristina I Boström, Yucheng Yao
The vascular endothelium is critical for induction of appropriate lineage differentiation in organogenesis. In this study, we report that dysfunctional pulmonary endothelium, resulting from the loss of matrix Gla protein (MGP), causes ectopic hepatic differentiation in the pulmonary epithelium. We demonstrate uncontrolled induction of the hepatic growth factor (HGF) caused by dysregulated cross talk between pulmonary endothelium and epithelium in Mgp-null lungs. Elevated HGF induced hepatocyte nuclear factor 4 α (Hnf4a), which competed with NK2 homeobox 1 (Nkx2...
October 2, 2017: Journal of Cell Biology
https://www.readbyqxmd.com/read/28813670/nkx2-1-is-required-in-the-embryonic-septum-for-cholinergic-system-development-learning-and-memory
#20
Lorenza Magno, Caswell Barry, Christoph Schmidt-Hieber, Polyvios Theodotou, Michael Häusser, Nicoletta Kessaris
The transcription factor NKX2-1 is best known for its role in the specification of subsets of cortical, striatal, and pallidal neurons. We demonstrate through genetic fate mapping and intersectional focal septal deletion that NKX2-1 is selectively required in the embryonic septal neuroepithelium for the development of cholinergic septohippocampal projection neurons and large subsets of basal forebrain cholinergic neurons. In the absence of NKX2-1, these neurons fail to develop, causing alterations in hippocampal theta rhythms and severe deficiencies in learning and memory...
August 15, 2017: Cell Reports
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