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JOURNAL ARTICLE
Simon Chamberland, Gariel Grant, Robert Machold, Erica R Nebet, Guoling Tian, Joshua Stich, Monica Hanani, Klas Kullander, Richard W Tsien
Hippocampal somatostatin-expressing ( Sst ) GABAergic interneurons (INs) exhibit considerable anatomical and functional heterogeneity. Recent single-cell transcriptome analyses have provided a comprehensive Sst -IN subpopulations census, a plausible molecular ground truth of neuronal identity whose links to specific functionality remain incomplete. Here, we designed an approach to identify and access subpopulations of Sst -INs based on transcriptomic features. Four mouse models based on single or combinatorial Cre- and Flp- expression differentiated functionally distinct subpopulations of CA1 hippocampal Sst- INs that largely tiled the morpho-functional parameter space of the Sst -INs superfamily...
April 23, 2024: Proceedings of the National Academy of Sciences of the United States of America
#2
Erika Uehara, Naoaki Hori, Kanako Tanase-Nakao, Kazuhisa Akiba, Hidefumi Sueoka, Keiko Matsubara, Satoshi Narumi
INTRODUCTION: NK2 homeobox 1 (NKX2-1) encodes a transcription factor NKX2-1 that is expressed in the thyroid gland, lung and brain. Dual oxidase 2 (DUOX2) encodes an enzyme which generates hydrogen peroxide and is involved in the thyroid hormone synthesis. Cases of congenital hypothyroidism (CH) with dyshormonogenesis showing two or more genetic variants are increasingly reported. We describe the first case of transient dyshormonogenesis who had experimentally-verified a loss of function NKX2-1 variant and DUOX2 variants...
April 18, 2024: Hormone Research in Pædiatrics
#3
JOURNAL ARTICLE
Alexandre Brudon, Marie Legendre, Arthur Mageau, Julien Bermudez, Philippe Bonniaud, Diane Bouvry, Jacques Cadranel, Aurélie Cazes, Bruno Crestani, Tristan Dégot, Céline Delestrain, Rémi Diesler, Ralph Epaud, Quentin Philippot, Nathalie Theou-Anton, Caroline Kannengiesser, Ibrahima Ba, Marie-Pierre Debray, Pascale Fanen, Efrosine Manali, Spyros Papiris, Nadia Nathan, Serge Amselem, Antoine Gondouin, Anne Guillaumot, Claire Andréjak, Stephane Jouneau, Guillaume Beltramo, Yurdagul Uzunhan, François Galodé, Virginie Westeel, Anas Mehdaoui, Sandrine Hirschi, Sylvie Leroy, Sylvain Marchand-Adam, Hilario Nunes, Clément Picard, Grégoire Prevot, Martine Reynaud-Gaubert, Paul De Vuyst, Lidwine Wemeau, Gautier Defossez, Gérard Zalcman, Vincent Cottin, Raphael Borie
RATIONALE: Several rare surfactant-related genes variants associated with interstitial lung disease are suspected to be associated with lung cancer, but data are missing. OBJECTIVES: We aimed to study the epidemiology and phenotype of lung cancer in an international cohort of surfactant-related gene (SRG) variant carriers. METHODS: We conducted a cross-sectional study of all adults with SRG variants in the OrphaLung network and compared lung cancer risk with telomerase-related gene (TRG) variant carriers...
April 4, 2024: European Respiratory Journal
#4
JOURNAL ARTICLE
Seyed-Morteza Javadirad
OBJECTIVE: Nodular goiter may increase the risk of thyroid cancer, but the genetic factors contributing to nodular goiter are not well understood. There is an overexpression of H19 lncRNA in goiter tissue and its target remains unknown. In this study, we attempted to identify a new target for H19 in the context of goiter development. METHODS: Using interaction energy calculations, the interaction between NKX2-1 mRNA and H19 lncRNA was examined. Putative microRNAs were found at the H19 lncRNA target site with the highest affinity for NKX2-1...
February 28, 2024: Brazilian Journal of Otorhinolaryngology
#5
JOURNAL ARTICLE
Bingqiang Wen, Enhong Li, Guolun Wang, Timothy R Kalin, Dongfeng Gao, Peixin Lu, Tanya V Kalin, Vladimir V Kalinichenko
RATIONALE: Recent efforts in bioengineering and embryonic stem cell (ESC) technology allowed the generation of ESC-derived mouse lung tissues in transgenic mice missing critical morphogenetic genes. While epithelial cell lineages were efficiently generated from ESC, other cell types were mosaic. A complete contribution of donor ESC to lung tissue has never been achieved. The mouse lung has never been generated in a rat. OBJECTIVE: To generate the mouse lung in a rat...
March 20, 2024: American Journal of Respiratory and Critical Care Medicine
#6
JOURNAL ARTICLE
Sung-Min Hwang, Md Mahbubur Rahman, Eun Jin Go, Yong Ho Kim, Chul-Kyu Park
Gamma-aminobutyric acid (GABA) neuronal system-related transcription factors (TFs) play a critical role in GABA production, and GABA modulates diabetic neuropathic pain (DNP). The present study investigated the therapeutic effects of intrathecal delivery of two TFs achaete-scute homolog 1 (Ascl1) and LIM homeobox protein 6 (Lhx6) in a mouse model of DNP and elucidated their underlying mechanisms. GABA-related specific TFs, including Ascl1, Lhx6, distal-less homeobox 1, distal-less homeobox 5, the Nkx2.1 homeobox gene, and the Nkx2...
March 12, 2024: Biomedicine & Pharmacotherapy
#7
JOURNAL ARTICLE
Evgeny Reshetnikov, Maria Churnosova, Yuliya Reshetnikova, Vadim Stepanov, Anna Bocharova, Victoria Serebrova, Ekaterina Trifonova, Irina Ponomarenko, Inna Sorokina, Olga Efremova, Valentina Orlova, Irina Batlutskaya, Marina Ponomarenko, Vladimir Churnosov, Inna Aristova, Alexey Polonikov, Mikhail Churnosov
We aimed to explore the potential link of maternal age at menarche (mAAM) gene polymorphisms with risk of the fetal growth restriction (FGR). This case (FGR)-control (FGR free) study included 904 women (273 FGR and 631 control) in the third trimester of gestation examined/treated in the Departments of Obstetrics. For single nucleotide polymorphism (SNP) multiplex genotyping, 50 candidate loci of mAAM were chosen. The relationship of mAAM SNPs and FGR was appreciated by regression procedures (logistic/model-based multifactor dimensionality reduction [MB-MDR]) with subsequent in silico assessment of the assumed functionality pithy of FGR-related loci...
February 24, 2024: International Journal of Molecular Sciences
#8
Suhyeon Son, Hyunjin Jeong, Gyunghee Lee, Jae H Park, Siuk Yoo
scarecrow ( scro ) encodes a fly homolog of mammalian Nkx2.1 that is vital for early fly development as well as for optic lobe development. Interestingly, scro was reported to produce a circular RNA (circRNA). In this study, we identified 12 different scro circRNAs, which are either mono- or multi-exonic forms. The most abundant forms are circE2 carrying the second exon only and bi-exonic circE3-E4. Levels of circE2 show an age-dependent increase in adult heads, supporting a general trend of high accumulation of circRNAs in aged fly brains...
February 29, 2024: bioRxiv
#9
JOURNAL ARTICLE
Johanna Vercammen, Joke Terryn, Sien Van Daele, Sascha Vermeer, Wim Vandenberghe
No abstract text is available yet for this article.
March 7, 2024: Movement Disorders Clinical Practice
#10
JOURNAL ARTICLE
The first Indian patient with benign hereditary chorea due to a de novo mutation in the NKX2-1 gene.
Divyani Garg, Ayush Agarwal, Mohammed Faruq, Achal Kumar Srivastava
No abstract text is available yet for this article.
February 29, 2024: Journal of Movement Disorders
#11
JOURNAL ARTICLE
Osamu Machida, Haruko Sakamoto, Keiko Shimojima Yamamoto, Yuiko Hasegawa, Satoi Nii, Hidenori Okada, Kazuki Nishikawa, Shin-Ichi Sumimoto, Eriko Nishi, Nobuhiko Okamoto, Toshiyuki Yamamoto
Nucleotide variations or deletions in the NK2 homeobox 1 gene ( NKX2-1 ), located at 14q13.3, lead to symptoms associated with the brain, lungs, and thyroid, and the combination of these phenotypes is clinically recognized as the brain-lung-thyroid syndrome. Many types of nucleotide variants of NKX2-1 have been identified, and phenotypic variability has been reported. Chromosomal deletions involving NKX2-1 have also been reported; however, phenotypic differences between patients with nucleotide variants of NKX2-1 and patients with chromosomal deletions involving NKX2-1 have not been well established...
February 2024: Intractable & Rare Diseases Research
#12
JOURNAL ARTICLE
Sifan Wu, Qiqi Sheng, Pengjun Liu, Zhe Jiao, Jinru Lv, Rong Qiao, Dongkun Xie, Zanhan Wang, Jiamei Ge, Penghui Li, Tiaoxia Wei, Jie Lei, Jieyi Fan, Liang Wang
Patients diagnosed with non-small cell lung cancer (NSCLC) have a limited lifespan and exhibit poor immunotherapy outcomes. M1 macrophages have been found to be essential for antitumor immunity. This study aims to develop an immunotherapy response evaluation model for NSCLC patients based on transcription. RNA sequencing profiles of 254 advanced-stage NSCLC patients treated with immunotherapy are downloaded from the POPLAR and OAK projects. Immune cell infiltration in NSCLC patients is examined, and thereafter, different coexpressed genes are identified...
February 21, 2024: Acta Biochimica et Biophysica Sinica
#13
JOURNAL ARTICLE
Xinchun Yang, Xiaolong Wu, Yuqi Wang, Wenhao Li, Xiaojie Wu, Liming Yuan, Taiyong Yu, Na Li, Shiqiang Zhang, Jinlian Hua
Organoids are in vitro 3D models that are generated using stem cells to study organ development and regeneration. Despite the extensive research on lung organoids, there is limited information on pig lung cell generation or development. Here, we identified five epithelial cell types along with their characteristic markers using scRNA-seq. Additionally, we found that NKX2.1 and FOXA2 acted as the crucial core transcription factors in porcine lung development. The presence of SOX9/SOX2 double-positive cells was identified as a key marker for lung progenitor cells...
February 29, 2024: FASEB Journal: Official Publication of the Federation of American Societies for Experimental Biology
#14
JOURNAL ARTICLE
Ting Tao, Hui Chen, Qimei Xu, Zhen Li, Xuelian Chen, Xunjian Zhou, Wu Luo
Lymphatic metastasis is a common metastasis of lung adenocarcinoma (LUAD). The current study illustrated the action of lncRNA NKX2-1-AS1 in lymphangiogenesis in LUAD and the underlying mechanisms. Clinical tissue samples were collected for determining NKX2-1-AS1 expression. Then, H441 and H661 cells were selected to perform gain- and loss-of-function assays for dissecting the roles of NKX2-1-AS1 in LUAD cell proliferation and migration. Besides, H441 and H661 cell supernatant was harvested to stimulate HLECs for assessing tube formation ability...
January 29, 2024: Tissue & Cell
#15
JOURNAL ARTICLE
Martina Vescio, Matteo Bulloni, Giuseppe Pelosi, Linda Pattini
The transcription factors TTF1/NKX2-1 and ΔNp63/p40 are the counterposed molecular markers associated with the main Non-Small Cell Lung Cancer subtypes: TTF1 for adenocarcinoma, p40 for squamous cell carcinoma. Although they generally display a mutually exclusive expression, some exceptions exist simultaneously lacking or (very rarely) expressing both markers, either pattern being associated to poor prognosis. Hence, we quantitatively analyzed the relationship between their coordinated activity and prognosis...
January 30, 2024: Scientific Reports
#16
JOURNAL ARTICLE
Christopher J Herbst, Elena Lopez-Rodriguez, Vladimir Gluhovic, Sabrina Schulz, Raphael Brandt, Sara Timm, Jubilant Abledu, Juliana Falivene, Peter Pennitz, Holger Kirsten, Geraldine Nouailles, Martin Witzenrath, Matthias Ochs, Wolfgang M Kuebler
In vitro lung research requires appropriate cell culture models that adequately mimic in vivo structure and function. Previously, researchers have extensively utilized commercially available and easily expandable A549 and NCI-H441 cells which replicate some yet not all features of alveolar epithelial cells. Specifically, these cells are often restricted by terminally altered expression while lacking important alveolar epithelial characteristics. Of late, human primary alveolar epithelial cells (hPAEpC) have become commercially available, but are so far poorly specified...
January 11, 2024: American Journal of Respiratory Cell and Molecular Biology
#17
Hua He, Sheila M Bell, Ashley Kuenzi Davis, Shuyang Zhao, Anusha Sridharan, Cheng-Lun Na, Minzhe Guo, Yan Xu, John Snowball, Daniel T Swarr, William J Zacharias, Jeffrey A Whitsett
Differential chromatin accessibility accompanies and mediates transcriptional control of diverse cell fates and their differentiation during embryogenesis. While the critical role of NKX2-1 and its transcriptional targets in lung morphogenesis and pulmonary epithelial cell differentiation is increasingly known, mechanisms by which chromatin accessibility alters the epigenetic landscape and how NKX2-1 interacts with other co-activators required for alveolar epithelial cell differentiation and function are not well understood...
December 20, 2023: bioRxiv
#18
JOURNAL ARTICLE
Yan Shu, Julin Yuan, Christer Hogstrand, Zhiyu Xue, Xilan Wang, Chunsheng Liu, Tao Li, Dapeng Li, Liqin Yu
2-ethylhexyl diphenyl phosphate (EHDPP) strongly binds to transthyretin (TTR) and affects the expression of genes involved in the thyroid hormone (TH) pathway in vitro. However, it is still unknown whether EHDPP induces endocrine disruption of THs in vivo. In this study, zebrafish (Danio rerio) embryos (< 2 h post-fertilization (hpf)) were exposed to environmentally relevant concentrations of EHDPP (0, 0.1, 1, 10, and 100 μg·L-1 ) for 120 h. EHDPP was detected in 120 hpf larvae at concentrations of 0...
December 23, 2023: Aquatic Toxicology
#19
Jichao Chen, Dalia Hassan
Cell plasticity theoretically extends to all possible cell types, but naturally decreases as cells differentiate, whereas injury-repair re-engages the developmental plasticity. Here we show that the lung alveolar type 2 (AT2)-specific transcription factor (TF), CEBPA, restricts AT2 cell plasticity in the mouse lung. AT2 cells undergo transcriptional and epigenetic maturation postnatally. Without CEBPA, both neonatal and mature AT2 cells reduce the AT2 program, but only the former reactivate the SOX9 progenitor program...
December 14, 2023: Research Square
#20
JOURNAL ARTICLE
Yo-Taro Shirai, Nobuo Hoshi, Jerrold M Ward, Huaitian Liu, Raul E Cachau, Maxwell P Lee, Shioko Kimura
Background Thyroid cancer cell lines have been of great value for the study of thyroid cancer. However, the availability of benign thyroid adenoma cell lines is limited. Methods Cell lines were established from thyroid adenomatous nodules that developed in mice treated with the goitrogen amitrole. Expression of epithelial, mesenchymal and thyroid markers of these established cell lines was determined and the effect of lentivirus-transduced overexpression of NKX2-1, a master regulator of thyroid development, on the thyroid marker expression was examined...
December 27, 2023: Thyroid: Official Journal of the American Thyroid Association
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