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https://www.readbyqxmd.com/read/29159607/high-resolution-melting-analysis-hrm-for-mutational-screening-of-dnajc17-gene-in-patients-affected-by-thyroid-dysgenesis
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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 how to separately derive lung vs. thyroid epithelial lineages, since 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 prior reports...
September 25, 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
#8
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
#9
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
#10
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
#11
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
#12
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
https://www.readbyqxmd.com/read/28808495/the-most-frequent-abca3-nonsense-mutation-p-tyr1515-y1515x-causing-lethal-neonatal-respiratory-failure-in-a-term-neonate
#13
AlNashmi AlAnazi, Ralph Epaud, Humariya Heena, Alix de Becdelievre, Abeer Mohammad Miqdad, Pascale Fanen
Defects in the surfactant biosynthesis are associated with respiratory distress syndrome, commonly occurring in premature infants due to lung immaturity. However, interstitial lung diseases have also been observed in full-term infants with mutations in the SFTPC, SFTPB, NKX2-1, or ABCA3 genes, involved in the surfactant metabolism. Herein, we report a newborn baby with neonatal respiratory distress and diffuse lung disease caused by ABCA3 mutation. The baby died at 5 weeks of age after developing pulmonary hypertension...
July 2017: Annals of Thoracic Medicine
https://www.readbyqxmd.com/read/28749785/mutation-analysis-of-the-nkx2-5-gene-in-iranian-pediatric-patients-with-congenital-hypothyroidism
#14
Mehri Khatami, Mohammad Mehdi Heidari, Fatemeh Tabesh, Mahtab Ordooei, Zohreh Salehifar
BACKGROUND: The embryonic development of the thyroid gland is regulated by the expression of several candidate genes which are related to congenital hypothyroidism. These genes include the numerous critical thyroid transcription factors such as NKX2.1, NKX2.5, FOXE1, and PAX8. The molecular analysis of these loci will be essential to the explanation of the participation of these transcription activators in the etiology of hypothyroidism. Among them, the role of NKX2.5 is important during the early thyroid morphogenesis and in controlling thyroidal cell differentiation and migration...
August 28, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28732825/heterogeneity-of-lung-disease-associated-with-nk2-homeobox-1-mutations
#15
Elodie Nattes, Stephanie Lejeune, Ania Carsin, Raphael Borie, Isabelle Gibertini, Juan Balinotti, Nadia Nathan, Sylvain Marchand-Adam, Caroline Thumerelle, Brigitte Fauroux, Emmanuelle Bosdure, Veronique Houdouin, Celine Delestrain, MaleK Louha, Remy Couderc, Alix De Becdelievre, Pascale Fanen, Benoit Funalot, Bruno Crestani, Antoine Deschildre, Jean-Christophe Dubus, Ralph Epaud
We retrospectively studied the clinical presentation, treatment modalities and outcome in 16 patients with heterozygous NKX2-1 mutation associated with chronic lung disease. Twelve different NKX2-1 mutations, including 4 novel mutations, were identified in the 16 patients. Nine patients presented with brain-lung-thyroid syndrome, 3 had neurological and lung symptoms and 4 had only pulmonary symptoms. Ten patients had neonatal respiratory distress, and 6 of them developed infiltrative lung disease (ILD). The other patients were diagnosed with ILD in childhood (n = 3) or in adulthood (n = 3)...
August 2017: Respiratory Medicine
https://www.readbyqxmd.com/read/28703219/genome-wide-association-and-expression-quantitative-trait-loci-studies-identify-multiple-susceptibility-loci-for-thyroid-cancer
#16
Ho-Young Son, Yul Hwangbo, Seong-Keun Yoo, Sun-Wha Im, San Duk Yang, Soo-Jung Kwak, Min Seon Park, Soo Heon Kwak, Sun Wook Cho, Jun Sun Ryu, Jeongseon Kim, Yuh-Seog Jung, Tae Hyun Kim, Su-Jin Kim, Kyu Eun Lee, Do Joon Park, Nam Han Cho, Joohon Sung, Jeong-Sun Seo, Eun Kyung Lee, Young Joo Park, Jong-Il Kim
Thyroid cancer is the most common cancer in Korea. Several susceptibility loci of differentiated thyroid cancer (DTC) were identified by previous genome-wide association studies (GWASs) in Europeans only. Here we conducted a GWAS and a replication study in Koreans using a total of 1,085 DTC cases and 8,884 controls, and validated these results using expression quantitative trait loci (eQTL) analysis and clinical phenotypes. The most robust associations were observed in the NRG1 gene (rs6996585, P=1.08 × 10(-10)) and this SNP was also associated with NRG1 expression in thyroid tissues...
July 13, 2017: Nature Communications
https://www.readbyqxmd.com/read/28691208/transcriptomic-profile-analysis-of-mouse-neural-tube-development-by-rna-seq
#17
Juan Yu, Jianbing Mu, Qian Guo, Lihong Yang, Juan Zhang, Zhizhen Liu, Baofeng Yu, Ting Zhang, Jun Xie
The neural tube is the primordium of the central nervous system (CNS) in which its development is not entirely clear. Understanding the cellular and molecular basis of neural tube development could, therefore, provide vital clues to the mechanism of neural tube defects (NTDs). Here, we investigated the gene expression profiles of three different time points (embryonic day (E) 8.5, 9.5 and 10.5) of mouse neural tube by using RNA-seq approach. About 391 differentially expressed genes (DEGs) were screened during mouse neural tube development, including 45 DEGs involved in CNS development, among which Bmp2, Ascl1, Olig2, Lhx1, Wnt7b and Eomes might play the important roles...
September 2017: IUBMB Life
https://www.readbyqxmd.com/read/28677170/inactivating-mutations-and-hypermethylation-of-the-nkx2-1-ttf-1-gene-in-non-terminal-respiratory-unit-type-lung-adenocarcinomas
#18
Daisuke Matsubara, Manabu Soda, Taichiro Yoshimoto, Yusuke Amano, Yuji Sakuma, Azusa Yamato, Toshihide Ueno, Shinya Kojima, Tomoki Shibano, Yasuyuki Hosono, Masahito Kawazu, Yoshihiro Yamashita, Shunsuke Endo, Koichi Hagiwara, Masashi Fukayama, Takashi Takahashi, Hiroyuki Mano, Toshiro Niki
The major driver mutations of lung cancer, EGFR mutations and EML4-ALK fusion, are mainly detected in terminal respiratory unit (TRU)-type lung adenocarcinomas, which typically show lepidic and/or papillary patterns, but are rarely associated with a solid or invasive mucinous morphology. In order to elucidate the key genetic events in non-TRU-type lung cancer, we carried out whole-exome sequencing on 43 non-TRU-type lung adenocarcinomas based on morphology (17 acinar, nine solid, and two enteric adenocarcinomas, and 15 adenocarcinomas with a mucinous morphology)...
September 2017: Cancer Science
https://www.readbyqxmd.com/read/28668442/resveratrol-has-anti-thyroid-effects-both-in%C3%A2-vitro-and-in%C3%A2-vivo
#19
Cesidio Giuliani, Manuela Iezzi, Laura Ciolli, Alba Hysi, Ines Bucci, Serena Di Santo, Cosmo Rossi, Mirco Zucchelli, Giorgio Napolitano
Resveratrol is a natural polyphenol with antioxidant, anti-inflammatory, and antiproliferative properties. We have shown previously that resveratrol decreases sodium/iodide symporter expression and iodide uptake in thyrocytes, both in vitro and in vivo. In the present study, we further investigated the effects of resveratrol, with evaluation of the expression of additional thyroid-specific genes in the FRTL-5 rat thyroid cell line: thyroglobulin, thyroid peroxidase, TSH receptor, Nkx2-1, Foxe1 and Pax8. We observed decreased expression of these genes in FRTL-5 cells treated with 10 μM resveratrol...
September 2017: Food and Chemical Toxicology
https://www.readbyqxmd.com/read/28660995/age-at-diagnosis-and-gender-modify-the-risk-of-9q22-and-14q13-polymorphisms-for-papillary-thyroid-carcinoma
#20
Dorota Kula, Michał Kalemba, Zbigniew Puch, Joanna Polańska, Michał Świerniak, Dagmara Rusinek, Jadwiga Żebracka-Gala, Małgorzata Kowalska, Daria Handkiewicz-Junak, Monika Kowal, Tomasz Tyszkiewicz, Ewelina Piasna, Agnieszka Czarniecka, Agnieszka Pawlaczek, Jolanta Krajewska, Sylwia Szpak-Ulczok, Barbara Jarząb
INTRODUCTION: Papillary thyroid cancer (PTC) shows familial occurrence, and some susceptibility single nucleotide polymorphisms (SNPs) have been identified in FOXE1 and near the NKX2-1 locus. The aim of our study was to analyse the association of PTC risk with SNPs in FOXE1 (rs965513, rs1867277, rs1443434) and near the NKX2-1 locus (rs944289) in a Polish population, and, in the second step, the interac-tion between SNPs and patient-related factors (age at diagnosis and gender). MATERIAL AND METHODS: A total of 2243 DNA samples from PTC patients and 1160 controls were included in the study...
2017: Endokrynologia Polska
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