نتایج جستجو برای: nkx2

تعداد نتایج: 827  

Journal: :Development 1999
J M Reecy X Li M Yamada F J DeMayo C S Newman R P Harvey R J Schwartz

Nkx2-5 marks the earliest recognizable cardiac progenitor cells, and is activated in response to inductive signals involved in lineage specification. Nkx2-5 is also expressed in the developing foregut, thyroid, spleen, stomach and tongue. One approach to elucidate the signals involved in cardiogenesis was to examine the transcriptional regulation of early lineage markers such as Nkx2-5. We gene...

2013
Stefan Nagel Stefan Ehrentraut Jürgen Tomasch Hilmar Quentmeier Corinna Meyer Maren Kaufmann Hans G. Drexler Roderick A. F. MacLeod

Homeobox genes encode transcription factors ubiquitously involved in basic developmental processes, deregulation of which promotes cell transformation in multiple cancers including hematopoietic malignancies. In particular, NKL-family homeobox genes TLX1, TLX3 and NKX2-5 are ectopically activated by chromosomal rearrangements in T-cell neoplasias. Here, using transcriptional microarray profilin...

Journal: :Journal of medical genetics 2014
Anne Thorwarth Sarah Schnittert-Hübener Pamela Schrumpf Ines Müller Sabine Jyrch Christof Dame Heike Biebermann Gunnar Kleinau Juri Katchanov Markus Schuelke Grit Ebert Anne Steininger Carsten Bönnemann Knut Brockmann Hans-Jürgen Christen Patricia Crock Francis deZegher Matthias Griese Jacqueline Hewitt Sten Ivarsson Christoph Hübner Klaus Kapelari Barbara Plecko Dietz Rating Iva Stoeva Hans-Hilger Ropers Annette Grüters Reinhard Ullmann Heiko Krude

BACKGROUND NKX2-1 encodes a transcription factor with large impact on the development of brain, lung and thyroid. Germline mutations of NKX2-1 can lead to dysfunction and malformations of these organs. Starting from the largest coherent collection of patients with a suspected phenotype to date, we systematically evaluated frequency, quality and spectrum of phenotypic consequences of NKX2-1 muta...

2015
Romaric Bouveret Ashley J Waardenberg Nicole Schonrock Mirana Ramialison Tram Doan Danielle de Jong Antoine Bondue Gurpreet Kaur Stephanie Mohamed Hananeh Fonoudi Chiann-Mun Chen Merridee A Wouters Shoumo Bhattacharya Nicolas Plachta Sally L Dunwoodie Gavin Chapman Cédric Blanpain Richard P Harvey

We take a functional genomics approach to congenital heart disease mechanism. We used DamID to establish a robust set of target genes for NKX2-5 wild type and disease associated NKX2-5 mutations to model loss-of-function in gene regulatory networks. NKX2-5 mutants, including those with a crippled homeodomain, bound hundreds of targets including NKX2-5 wild type targets and a unique set of "off-...

Journal: :Neuron 2008
Laura A.B. Elias Gregory B. Potter Arnold R. Kriegstein

The homeobox transcription factor, Nkx2-1, plays multiple roles during forebrain development. Using restricted genetic ablation of Nkx2-1, in this issue of Neuron, Butt et al. show that Nkx2-1 in telencephalic progenitors regulates interneuron subtype specification, while Nóbrega-Pereira et al. demonstrate that postmitotic Nkx2-1 regulates migration and sorting of interneurons to the striatum o...

2017
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 fo...

Journal: :Cell 2007
Owen W.J. Prall Mary K. Menon Mark J. Solloway Yusuke Watanabe Stéphane Zaffran Fanny Bajolle Christine Biben Jim J. McBride Bronwyn R. Robertson Hervé Chaulet Fiona A. Stennard Natalie Wise Daniel Schaft Orit Wolstein Milena B. Furtado Hidetaka Shiratori Kenneth R. Chien Hiroshi Hamada Brian L. Black Yumiko Saga Elizabeth J. Robertson Margaret E. Buckingham Richard P. Harvey

During heart development the second heart field (SHF) provides progenitor cells for most cardiomyocytes and expresses the homeodomain factor Nkx2-5. We now show that feedback repression of Bmp2/Smad1 signaling by Nkx2-5 critically regulates SHF proliferation and outflow tract (OFT) morphology. In the cardiac fields of Nkx2-5 mutants, genes controlling cardiac specification (including Bmp2) and ...

Journal: :Neuron 2008
Sandrina Nóbrega-Pereira Nicoletta Kessaris Tonggong Du Shioko Kimura Stewart A. Anderson Oscar Marín

The homeodomain transcription factor Nkx2-1 plays key roles in the developing telencephalon, where it regulates the identity of progenitor cells in the medial ganglionic eminence (MGE) and mediates the specification of several classes of GABAergic and cholinergic neurons. Here, we have investigated the postmitotic function of Nkx2-1 in the migration of interneurons originating in the MGE. Exper...

Journal: :Cardiovascular research 2011
Ryota Terada Sonisha Warren Jonathan T Lu Kenneth R Chien Andy Wessels Hideko Kasahara

AIMS Human congenital heart disease linked to mutations in the homeobox transcription factor, NKX2-5, is characterized by cardiac anomalies, including atrial and ventricular septal defects as well as conduction and occasional defects in contractility. In the mouse, homozygous germline deletion of Nkx2-5 gene results in death around E10.5. It is, however, not established whether Nkx2-5 is necess...

2017
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 sequenc...

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