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26 documents found
1: Title: Identification of candidate genes for congenital heart defects on proximal chromosome 8p.
Authors: Li, Tingting, et.al. .
Journal: Scientific reports (Sci Rep), Vol. 6, 2016 .
Snippet: The c.1A > T NKX2-6 generated a protein truncated by 45 amino acids with a decreased level of mRNA expression, whereas the NRG1 mutation had no significant effect on protein functions.
Affiliation: Department of Pediatric Cardiology, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200092, PR. China. Scientific Research Center, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200092, PR. China. .
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2: Title: [Genome-wide analysis of DNA methylation in prostate cancer using the technology of Infinium HumanMethylation450 BeadChip (HM450)].
Authors: Babalyan, K A, et.al. .
Journal: Voprosy onkologii (Vopr Onkol), Vol. 62 (1): 122-32, 2016 .
Snippet: In turn, the differences in the levels of methylation in genes GPRASP1, NKX2-6, ARX, CYBA, EPSTI1, RHCG been documented as a result of a number of genome-research oncology, but has not been studied in detail.
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3: Title: A novel NKX2.6 mutation associated with congenital ventricular septal defect.
Authors: Wang, Juan, et.al. .
Journal: Pediatric cardiology (Pediatr Cardiol), Vol. 36 (3): 646-56, 2015 .
Snippet: Congenital heart disease (CHD) is the most common birth defect and is the most prevalent non-infectious cause of infant death.
Affiliation: Department of Cardiology, Tongji Hospital, Tongji University School of Medicine, 389 Xincun Road, Shanghai, 200065, China, wang_juan1989@sina.cn. .
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4: Title: NKX2-6 mutation predisposes to familial atrial fibrillation.
Authors: Wang, Jun, et.al. .
Journal: International journal of molecular medicine (Int J Mol Med), Vol. 34 (6): 1581-90, 2014 .
Snippet: In this study, the entire coding exons and splice junction sites of the NK2 homeobox 6 (NKX2-6) gene, which encodes a homeodomain transcription factor important for cardiovascular development, were sequenced in 150 unrelated patients with lone AF, and a novel heterozygous NKX2-6 mutation, p.Q175H, was identified in an index patient.
Affiliation: Department of Cardiology, East Hospital, Tongji University School of Medicine, Shanghai 200120, P.R. China. Department of Cardiology, Jing-An District Central Hospital, Shanghai 200040, P.R. China. Department of Cardiology, Shanghai Chest Hospital, Shanghai Jiao Tong University, Shanghai 200030, P.R. China. .
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5: Title: Prevalence and spectrum of Nkx2.6 mutations in patients with congenital heart disease.
Authors: Zhao, Lan, et.al. .
Journal: European journal of medical genetics (Eur J Med Genet), Vol. 57 (10): 579-86, 2014 .
Snippet: In this study, the coding exons and flanking introns of the Nkx2.6 gene, which codes for a homeodomain-containing transcription factor important for normal cardiovascular development, were sequenced in 320 unrelated patients with CHD, and two novel heterozygous Nkx2.6 mutations, p.V176M and p.K177X, were identified in two unrelated patients with CHD, respectively, including a patient with tetralogy of Fallot and a patient with double outlet of right ventricle and ventricular septal defect.
Affiliation: Department of Cardiology, Yantaishan Hospital, 91 Jiefang Road, Yantai 264001, Shandong, China. Department of Pediatrics, Baoshan Branch of Huashan Hospital, Fudan University, 1999 West Changjiang Road, Shanghai 200431, China. Department of Pediatrics, Tongji Hospital, Tongji University School of Medicine, 389 Xincun Road, Shanghai 200065, China. Department of Neonatology, Shanghai Children's Hospital, Shanghai Jiao Tong University, 1400 West Beijing Road, Shanghai 200040, China. Department of Cardiology, Shanghai Chest Hospital, Shanghai Jiao Tong University, 241 West Huaihai Road, Shanghai 200030, China. Department of Extracorporal Circulation, Shanghai Chest Hospital, Shanghai Jiao Tong University, 241 West Huaihai Road, Shanghai 200030, China. Department of Cardiology, Shanghai Chest Hospital, Shanghai Jiao Tong University, 241 West Huaihai Road, Shanghai 200030, China; Cardiovascular Research Laboratory, Shanghai Chest Hospital, Shanghai Jiao Tong University, 241 West Huaihai Road, Shanghai 200030, China; Central Laboratory, Shanghai Chest Hospital, Shanghai Jiao Tong University, 241 West Huaihai Road, Shanghai 200030, China. Electronic address: qxingbiao@sina.cn. .
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6: Title: Whole genome DNA methylation signature of HER2-positive breast cancer.
Authors: Lindqvist, Breezy M, et.al. .
Journal: Epigenetics, Vol. 9 (8): 1149-62, 2014 .
Snippet: Within these genes, we observed an overrepresentation of homeobox family genes, including several genes that have not been previously reported in relation to cancer (DBX1, NKX2-6, SIX6).
Affiliation: School of Health and Medical Sciences; Örebro University; Örebro, Sweden. Department of Medical Biosciences/Clinical Chemistry; Umeå University; Umeå, Sweden. .
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7: Title: Conotruncal malformations and absent thymus due to a deleterious NKX2-6 mutation.
Authors: Ta-Shma, Asaf, et.al. .
Journal: Journal of medical genetics (J Med Genet), Vol. 51 (4): 268-70, 2014 .
Snippet: The clear phenotype associated with a homozygous deleterious mutation in the present report, falls well within the spectrum of the cardiac defects seen in DiGeorge syndrome, is in agreement with NKX2-6 downstream location in the TBX1 signalling pathway and confirms NKX2-6 role in human cardiogenesis.
Affiliation: Department of Pediatric Cardiology, Hadassah, Hebrew University Medical Center, Jerusalem, Israel. .
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8: Title: A focused in situ hybridization screen identifies candidate transcriptional regulators of thymic epithelial cell development and function.
Authors: Wei, Qiaozhi, et.al. .
Journal: PloS one, Vol. 6 (11): e26795, 2011 .
Snippet: From our data mining we selected the transcription factors Foxg1, Isl1, Gata3, Nkx2-5, Nkx2-6 and Sox2 for further studies.
Affiliation: Department of Genetics, University of Georgia, Athens, Georgia, United States of America. .
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9: Title: Conservation of gene linkage in dispersed vertebrate NK homeobox clusters.
Authors: Wotton, Karl R, et.al. .
Journal: Development genes and evolution (Dev Genes Evol), Vol. 219 (9-10): 481-96, 2009 .
Snippet: Nk homeobox genes are important regulators of many different developmental processes including muscle, heart, central nervous system and sensory organ development.
Affiliation: Department of Craniofacial Development, King's College London, Floor 27 Guy's Tower, Guy's Hospital, London Bridge, London, SE1 9RT, UK. .
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10: Title: Clinical and molecular characterization of two patients with a 6.75 Mb overlapping deletion in 8p12p21 with two candidate loci for congenital heart defects.
Authors: Willemsen, Marjolein H, et.al. .
Journal: European journal of medical genetics (Eur J Med Genet), Vol. 52 (2-3): 134-9, 2009 Mar-Jun .
Snippet: Congenital heart anomalies are also common and might at least to some extent be due to haploinsufficiency of NKX2-6 or NRG1.
Affiliation: Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands. m.willemsen@antrg.umcn.nl .
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11: Title: NKX2.5/NKX2.6 mutations are not a common cause of isolated type 1 truncus arteriosus in a small cohort of multiethnic cases.
Authors: Khetyar, Maher, et.al. .
Journal: Genetic testing (Genet Test), Vol. 12 (4): 467-9, 2008 .
No Abstract available.
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12: Title: Identification of downstream genetic pathways of Tbx1 in the second heart field.
Authors: Liao, Jun, et.al. .
Journal: Developmental biology (Dev Biol), Vol. 316 (2): 524-37, 2008 .
Snippet: Isl1, a key marker for the SHF, as well as Hod and Nkx2-6, were downregulated in Tbx1(-/-) mutants, while genes required for cardiac morphogenesis, such as Raldh2, Gata4, and Tbx5, as well as a subset of muscle contractile genes, signifying myocardial differentiation, were ectopically expressed.
Affiliation: Department of Molecular Genetics, Albert Einstein College of Medicine, 1300 Morris Park Ave., Bronx, NY 10461, USA. .
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13: Title: Specific DNA binding by the homeodomain Nkx2.5(C56S): detection of impaired DNA or unfolded protein by isothermal titration calorimetry.
Authors: Fodor, Elfrieda, et.al. .
Journal: Proteins, Vol. 64 (1): 13-8, 2006 .
Snippet: By using a lower temperature (85 vs. 95 degrees C) during the annealing of complementary DNA strands, damage of the 18-bp duplex DNA (T(m) = 72 degrees C) is avoided, and titrations with the homeodomain are normal at temperatures from 10 to 40 degrees C when >95% of the protein is folded.
Affiliation: Section on Protein Chemistry, Laboratory of Biochemistry, National Heart, Lung and Blood Institute, National Institutes of Health, Bethesda, Maryland 20892-8012, USA. .
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14: Title: [Role of mammalian polycomb group gene products in embryo genesis].
Authors: Fujimura, Yu-ichi, et.al. .
Journal: Tanpakushitsu kakusan koso. Protein, nucleic acid, enzyme (Tanpakushitsu Kakusan Koso), Vol. 50 (6 Suppl): 563-8, 2005 .
No Abstract available.
Affiliation: fujimura@rcai.riken.jp .
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15: Title: Common arterial trunk associated with a homeodomain mutation of NKX2.6.
Authors: Heathcote, Kirsten, et.al. .
Journal: Human molecular genetics (Hum Mol Genet), Vol. 14 (5): 585-93, 2005 .
Snippet: mutation reduced transcription activating function, synergism with partners at the ANF and connexin-40 (Cx40) promoters
Affiliation: Department of Clinical Developmental Science, St George's Hospital Medical School, London, UK. .
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16: Title: NK-2 class homeobox genes and pharyngeal/oral patterning: Nkx2-3 is required for salivary gland and tooth morphogenesis.
Authors: Biben, Christine, et.al. .
Journal: The International journal of developmental biology (Int J Dev Biol), Vol. 46 (4): 415-22, 2002 .
Snippet: Several homeobox genes of the NK-2 class (Nkx2-1, Nkx2-3, Nkx2-5 and Nkx2-6) are expressed regionally in the developing pharynx, and Nkx2-1 mutants and Nkx2-5/Nkx2-6 double mutants show loss of thyroid and distal lung progenitors, and pharyngeal cell viability, respectively.
Affiliation: Victor Chang Cardiac Research Institute, St Vincent's Hospital, Darlinghurst, NSW, Australia. .
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17: Title: Nkx2.5 and Nkx2.6, homologs of Drosophila tinman, are required for development of the pharynx.
Authors: Tanaka, M, et.al. .
Journal: Molecular and cellular biology (Mol Cell Biol), Vol. 21 (13): 4391-8, 2001 .
Snippet: These results demonstrated a critical role of the NK-2 homeobox genes in the differentiation, proliferation, and survival of pharyngeal endodermal cells.
Affiliation: Cardiovascular Division, Beth Israel Deaconess Medical Center, and Department of Medicine, Harvard Medical School, Boston, Massachusetts 02215, USA. .
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18: Title: Characterization of homo- and heterodimerization of cardiac Csx/Nkx2.5 homeoprotein.
Authors: Kasahara, H, et.al. .
Journal: The Journal of biological chemistry (J Biol Chem), Vol. 276 (7): 4570-80, 2001 .
Snippet: We found that the HD of Csx/Nkx2.5 binds as a monomer as well as a dimer to its DNA binding sites in the promoter of the atrial natriuretic factor (ANF) gene, an in vivo target gene of Csx/Nkx2.5.
Affiliation: Cardiovascular Division, Beth Israel Deaconess Medical Center, Department of Medicine, Harvard Medical School, Boston, Massachusetts 02215, USA. hkasahar@caregroup.harvard.edu .
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19: Title: Nkx3.1, a murine homolog of Ddrosophila bagpipe, regulates epithelial ductal branching and proliferation of the prostate and palatine glands.
Authors: Tanaka, M, et.al. .
Journal: Developmental dynamics : an official publication of the American Association of Anatomists (Dev Dynam), Vol. 219 (2): 248-60, 2000 .
Snippet: Nkx3.1 is an early marker of the sclerotome and a subset of vascular smooth muscle cells, and at later stages, this gene is expressed in the prostate, palatine glands, kidney, and restricted regions of the central nervous system.
Affiliation: Cardiovascular Division, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, Massachusetts 02215, USA. .
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20: Title: Targeted disruption of the Nkx3.1 gene in mice results in morphogenetic defects of minor salivary glands: parallels to glandular duct morphogenesis in prostate.
Authors: Schneider, A, et.al. .
Journal: Mechanisms of development (Mech Develop), Vol. 95 (1-2): 163-74, 2000 .
Snippet: 1/LacZ allele faithfully reflected the known expression domains of Nkx3.1 in sclerotome, a subset of blood vessels, Rathke's pouch, and ductal epithelium in prostate and minor salivary glands during pre- and postnatal mouse development.
Affiliation: Department of Cell and Molecular Biology, University of Braunschweig, Spielmannstrasse 7, 38106, Braunschweig, Germany. .
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