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https://www.readbyqxmd.com/read/29691693/environmentally-relevant-concentrations-of-mercury-exposure-alter-thyroid-hormone-levels-and-gene-expression-in-the-hypothalamic-pituitary-thyroid-axis-of-zebrafish-larvae
#1
Yaling Sun, Yingwen Li, Zhihao Liu, Qiliang Chen
Mercury (Hg) is one of the most toxic heavy metals that can cause severe damage to fish. Studies have demonstrated that Hg has a specific affinity for the endocrine system, but little is known about the effects of Hg on thyroid endocrine system in fish. In this study, zebrafish embryos were exposed to environmentally relevant concentrations of 1, 4, and 16 μg/L Hg2+ (added as HgCl2 ) from 2 h post-fertilization (hpf) to 168 hpf. Thyroid hormone (TH) levels and mRNA expression levels of genes involved in the hypothalamus-pituitary-thyroid (HPT) axis were determined...
April 24, 2018: Fish Physiology and Biochemistry
https://www.readbyqxmd.com/read/29672706/dissecting-the-sources-of-gene-expression-variation-in-a-pan-cancer-analysis-identifies-novel-regulatory-mutations
#2
Anchal Sharma, Chuan Jiang, Subhajyoti De
Although the catalog of cancer-associated mutations in protein-coding regions is nearly complete for all major cancer types, an assessment of regulatory changes in cancer genomes and their clinical significance remain largely preliminary. Adopting bottom-up approach, we quantify the effects of different sources of gene expression variation in a cohort of 3899 samples from 10 cancer types. We find that copy number alterations, epigenetic changes, transcription factors and microRNAs collectively explain, on average, only 31-38% and 18-26% expression variation for cancer-associated and other genes, respectively, and that among these factors copy number alteration has the highest effect...
April 17, 2018: Nucleic Acids Research
https://www.readbyqxmd.com/read/29650690/the-genetic-characteristics-of-congenital-hypothyroidism-in-china-by-comprehensive-screening-of-21-candidate-genes
#3
Feng Sun, Jun-Xiu Zhang, Chang-Yi Yang, Guan-Qi Gao, Wen-Bin Zhu, Bing Han, Le-Le Zhang, Yue-Yue Wan, Xiao-Ping Ye, Yu-Ru Ma, Man-Man Zhang, Liu Yang, Qian-Yue Zhang, Wei Liu, Cui-Cui Guo, Gang Chen, Shuang-Xia Zhao, Ke-Yi Song, Huaidong Song
Objective Congenital hypothyroidism (CH), the most common neonatal metabolic disorder, is characterized by impaired neurodevelopment. Although several candidate genes have been associated with CH, comprehensive screening of causative genes has been limited. Desgin and Methods One-hundred and ten patients with primary CH were recruited in this study. All exons and exon-intron boundaries of 21 candidate genes for CH were analyzed by next-generation sequencing. And the intertance pattern of causative genes was analysised by the study of family pedigrees...
April 12, 2018: European Journal of Endocrinology
https://www.readbyqxmd.com/read/29621620/benign-hereditary-chorea-and-deletions-outside-nkx2-1-what-s-the-role-of-mbip
#4
Federica Invernizzi, Giovanna Zorzi, Andrea Legati, Giovanni Coppola, Pio D'Adamo, Nardo Nardocci, Barbara Garavaglia, Daniele Ghezzi
Heterozygous point mutations or deletions of the NKX2-1 gene cause benign hereditary chorea (BHC) or a various combinations of primary hypothyroidism, respiratory distress and neurological disorders. Deletions proximal to, but not encompassing, NKX2-1 have been described in few subjects with brain-lung-thyroid syndrome. We report on a three-generation Italian family, with 6 subjects presenting BHC and harboring a genomic deletion adjacent to NKX2-1 and including the gene MBIP, recently proposed to be relevant for the pathogenesis of brain-lung-thyroid syndrome...
April 2, 2018: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29587142/developmental-history-provides-a-roadmap-for-the-emergence-of-tumor-plasticity
#5
Purushothama Rao Tata, Ryan D Chow, Srinivas Vinod Saladi, Aleksandra Tata, Arvind Konkimalla, Anne Bara, Daniel Montoro, Lida P Hariri, Angela R Shih, Mari Mino-Kenudson, Hongmei Mou, Shioko Kimura, Leif W Ellisen, Jayaraj Rajagopal
We show that the loss or gain of transcription factor programs that govern embryonic cell-fate specification is associated with a form of tumor plasticity characterized by the acquisition of alternative cell fates normally characteristic of adjacent organs. In human non-small cell lung cancers, downregulation of the lung lineage-specifying TF NKX2-1 is associated with tumors bearing features of various gut tissues. Loss of Nkx2-1 from murine alveolar, but not airway, epithelium results in conversion of lung cells to gastric-like cells...
March 26, 2018: Developmental Cell
https://www.readbyqxmd.com/read/29569581/genetic-basis-for-childhood-interstitial-lung-disease-among-japanese-infants-and-children
#6
Itaru Hayasaka, Kazutoshi Cho, Takuma Akimoto, Masahiko Ikeda, Yutaka Uzuki, Masafumi Yamada, Koh Nakata, Itsuko Furuta, Tadashi Ariga, Hisanori Minakami
BackgroundGenetic variants responsible for childhood interstitial lung disease (chILD) have not been studied extensively in Japanese patients.MethodsThe study population consisted of 62 Japanese chILD patients. Twenty-one and four patients had pulmonary hypertension resistant to treatment (PH) and hypothyroidism, respectively. Analyses of genetic variants were performed in all 62 patients for SFTPC and ABCA3, in all 21 PH patients for FOXF1, and in a limited number of patients for NKX2.1.ResultsCausative genetic variants for chILD were identified in 11 (18%) patients: SFTPC variants in six, NKX2...
February 2018: Pediatric Research
https://www.readbyqxmd.com/read/29551766/thyroid-transcription-factor-1-enhances-cellular-statin-sensitivity-via-perturbing-cholesterol-metabolism
#7
Shao-Chiang Lai, Cody A Phelps, Aleena M Short, Sucharita M Dutta, David Mu
We have discovered an unexpected connection between a critical lung development and cancer gene termed thyroid transcription factor 1 (TTF-1 also known as NKX2-1) and cholesterol metabolism. Our published work implicates that TTF-1 positively regulates miR-33a which is known to repress ATP-binding cassette transporter 1 (ABCA1) and thus its cholesterol efflux activity. We set out to demonstrate that a higher TTF-1 expression would presumably inhibit cholesterol efflux and consequently raise intracellular cholesterol level...
March 19, 2018: Oncogene
https://www.readbyqxmd.com/read/29546359/molecular-analysis-of-congenital-hypothyroidism-in-saudi-arabia-slc26a7-mutation-is-a-novel-defect-in-thyroid-dyshormonogenesis
#8
Minjing Zou, Ali S Alzahrani, Ali Al-Odaib, Mohammad A Alqahtani, Omer Babiker, Roua A Al-Rijjal, Huda A BinEssa, Walaa E Kattan, Anwar F Al-Enezi, Ali Al Qarni, Manar S A Al-Faham, Essa Y Baitei, Afaf Alsagheir, Brian F Meyer, Yufei Shi
Context: Congenital hypothyroidism (CH) is the most common neonatal endocrine disorder, affecting one in 3000 to 4000 newborns. Since the introduction of a newborn screening program in 1988, more than 300 cases have been identified. The underlying genetic defects have not been systematically studied. Objective: To identify the mutation spectrum of CH-causing genes. Methods: Fifty-five patients from 47 families were studied by next-generation exome sequencing...
May 1, 2018: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/29538355/mutations-in-the-thyroid-transcription-factor-gene-nkx2-1-result-in-decreased-expression-of-sftpb-and-sftpc
#9
Stephanie J Attarian, Sandra L Leibel, Ping Yang, Danielle N Alfano, Brian P Hackett, F Sessions Cole, Aaron Hamvas
BackgroundMutations in the NK2 homeobox 1 (NKX2-1) gene are associated with lung disease in infants and children. We hypothesize that disruption of normal surfactant gene expression with these mutations contributes to the respiratory phenotypes observed.MethodsTo assess transactivational activity, cotransfection of luciferase reporter vectors containing surfactant protein B or C (SFTPB or SFTPC) promoters with NKX2-1 plasmids was performed and luciferase activity was measured. To assess the binding of mutated proteins to target DNA, electrophoretic mobility shift assays (EMSA) were performed using nuclear protein labeled with oligonucleotide probes representing NKX2-1 consensus binding sequences followed by gel electrophoresis...
April 11, 2018: Pediatric Research
https://www.readbyqxmd.com/read/29535911/small-cell-lung-cancer-tumors-and-preclinical-models-display-heterogeneity-of-neuroendocrine-phenotypes
#10
Wei Zhang, Luc Girard, Yu-An Zhang, Tomohiro Haruki, Mahboubeh Papari-Zareei, Victor Stastny, Hans K Ghayee, Karel Pacak, Trudy G Oliver, John D Minna, Adi F Gazdar
Background: Small cell lung cancer (SCLC) is a deadly, high grade neuroendocrine (NE) tumor without recognized morphologic heterogeneity. However, over 30 years ago we described a SCLC subtype with "variant" morphology which did not express some NE markers and exhibited more aggressive growth. Methods: To quantitate NE properties of SCLCs, we developed a 50-gene expression-based NE score that could be applied to human SCLC tumors and cell lines, and genetically engineered mouse (GEM) models...
February 2018: Translational Lung Cancer Research
https://www.readbyqxmd.com/read/29517585/genetic-causes-and-clinical-management-of-pediatric-interstitial-lung-diseases
#11
Nadia Nathan, Keren Borensztajn, Annick Clement
PURPOSE OF REVIEW: Interstitial lung disease (ILD) in children (chILD) is an umbrella term for a heterogeneous group of rare respiratory disorders that are mostly chronic and associated with high morbidity and mortality. The pathogenesis of the various chILD is complex and implicates genetic contributors. The purpose of this review is to provide updated information on the molecular defects associated with the development of chILD. RECENT FINDINGS: Currently, the main mutations are identified in the surfactant genes SFTPA1, SFTPA2, SFTPB, SFTPC, ABCA3, and NKX2-1...
May 2018: Current Opinion in Pulmonary Medicine
https://www.readbyqxmd.com/read/29507184/developmental-decline-in-the-microrna-199a-mir-199a-mir-214-cluster-in-human-fetal-lung-promotes-type-ii-cell-differentiation-by-upregulating-key-transcription-factors
#12
Ritu Mishra, Houda Benlhabib, Wei Guo, Connie B Lerma Cervantes, Carole R Mendelson
The major surfactant protein, SP-A (a product of the SFTPA gene), serves as a marker of type II pneumocyte differentiation and surfactant synthesis. SFTPA expression in cultured human fetal lung (HFL) epithelial cells is upregulated by hormones that increase cyclic AMP (cAMP) and activate TTF-1/NKX2.1 and NF-κB. To further define mechanisms for type II cell differentiation and induction of SP-A, we investigated roles of microRNAs (miRNAs). Using microarray to identify differentially expressed miRNAs in HFL epithelial cells during type II cell differentiation in culture, we observed that members of the miRNA 199a (miR-199a)/miR-214 cluster were significantly downregulated during differentiation...
June 1, 2018: Molecular and Cellular Biology
https://www.readbyqxmd.com/read/29477862/the-brain-lung-thyroid-syndrome-blts-a-novel-deletion-in-chromosome-14q13-2-q21-1-expands-the-phenotype-to-humoral-immunodeficiency
#13
Beatriz Villafuerte, Daniel Natera-de-Benito, Aidy González, María A Mori, María Palomares, Julián Nevado, Sixto García-Miñaur, Pablo Lapunzina, Luis I González-Granado, Luis M Allende, José C Moreno
Genetic defects of NKX2-1 are classically associated with hypothyroidism, benign chorea and neonatal respiratory distress. The purpose of this study was to identify the genetic pathogenesis of the "NKX2-1 triad" in a 10 year-old female presenting additional features barely described in the disorder. In the neonatal period, she presented with generalized hypotonia and respiratory distress, with later episodes of frequent wheezing. At 3 month-age developmental dysplasia of the hip was diagnosed and at 10 months, primary hypothyroidism was detected and treated...
February 22, 2018: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29407447/roles-of-thyroid-transcription-factor-1-in-lung-cancer-biology
#14
Cody A Phelps, Shao-Chiang Lai, David Mu
Thyroid transcription factor 1 (TTF-1 or NKX2-1) is a transcription factor of fundamental importance in driving lung maturation and morphogenesis. In the last decade, scientists began to appreciate the functional roles of TTF-1 in lung tumorigenesis. This movement was triggered by the discoveries of genetic alterations of TTF-1 in the form of gene amplification in lung cancer. Many downstream target genes of TTF-1 relevant to the lung cancer biology of TTF-1 have been documented. One of the most surprising findings was that TTF-1 may exhibit either pro- or antitumorigenic activities, an outcome with the complexity exceeding the original anticipation purely based on the fact that TTF-1 undergoes gene amplification in lung cancer...
2018: Vitamins and Hormones
https://www.readbyqxmd.com/read/29392776/a-homozygous-loss-of-function-mutation-in-pde2a-associated-to-early-onset-hereditary-chorea
#15
Vincenzo Salpietro, Belen Perez-Dueñas, Kosuke Nakashima, Victoria San Antonio-Arce, Andreea Manole, Stephanie Efthymiou, Jana Vandrovcova, Conceicao Bettencourt, Niccolò E Mencacci, Christine Klein, Michy P Kelly, Ceri H Davies, Haruhide Kimura, Alfons Macaya, Henry Houlden
BACKGROUND: We investigated a family that presented with an infantile-onset chorea-predominant movement disorder, negative for NKX2-1, ADCY5, and PDE10A mutations. METHODS: Phenotypic characterization and trio whole-exome sequencing was carried out in the family. RESULTS: We identified a homozygous mutation affecting the GAF-B domain of the 3',5'-cyclic nucleotide phosphodiesterase PDE2A gene (c.1439A>G; p.Asp480Gly) as the candidate novel genetic cause of chorea in the proband...
March 2018: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/29361553/a-branching-morphogenesis-program-governs-embryonic-growth-of-the-thyroid-gland
#16
Shawn Liang, Ellen Johansson, Guillermo Barila, Daniel L Altschuler, Henrik Fagman, Mikael Nilsson
The developmental program that regulates thyroid progenitor cell proliferation is largely unknown. Here, we show that branching-like morphogenesis is a driving force to attain final size of the embryonic thyroid gland in mice. Sox9, a key factor in branching organ development, distinguishes Nkx2-1+ cells in the thyroid bud from the progenitors that originally form the thyroid placode in anterior endoderm. As lobes develop the thyroid primordial tissue branches several generations. Sox9 and Fgfr2b are co-expressed distally in the branching epithelium prior to folliculogenesis...
January 25, 2018: Development
https://www.readbyqxmd.com/read/29302581/novel-genetic-associations-between-lung-cancer-and-indoor-radon-exposure
#17
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
#18
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...
April 2018: Brain & Development
https://www.readbyqxmd.com/read/29286389/differentiation-of-mouse-embryonic-stem-cells-into-cortical-interneuron-precursors
#19
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
#20
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...
January 9, 2018: Proceedings of the National Academy of Sciences of the United States of America
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