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Journal Article
Circulation, ISSN 0009-7322, 08/2017, Volume 136, Issue 5, pp. 476 - 489
BACKGROUND:A chromosomal locus at 4q32.1 has been genome-wide significantly associated with coronary artery disease risk. The locus encompasses GUCY1A3, which... 
Myocardial infarction | Genome-wide association studies | Nitric oxide | Soluble guanylyl cyclase | Genetics | Genotype | Coronary artery disease | coronary artery disease | CORNEAL-DYSTROPHY | nitric oxide | ASSOCIATION ANALYSIS | ACTIVATION | CARDIAC & CARDIOVASCULAR SYSTEMS | MYOCARDIAL-INFARCTION | myocardial infarction | ATHEROSCLEROSIS | genotype | genetics | soluble guanylyl cyclase | UCSC | PERIPHERAL VASCULAR DISEASE | MUTATIONS | HYPERTENSION | genome-wide association studies | GENOME BROWSER | Muscle, Smooth, Vascular - metabolism | Soluble Guanylyl Cyclase - metabolism | Humans | Zinc Finger E-box-Binding Homeobox 1 - antagonists & inhibitors | Risk | Genetic Loci | Nitroprusside - pharmacology | RNA, Messenger - metabolism | Zinc Finger E-box-Binding Homeobox 1 - genetics | Zinc Finger E-box-Binding Homeobox 1 - metabolism | Soluble Guanylyl Cyclase - genetics | RNA Interference | Coronary Artery Disease - pathology | HEK293 Cells | Platelet Aggregation - drug effects | Muscle, Smooth, Vascular - drug effects | Sildenafil Citrate - pharmacology | Cell Line | Promoter Regions, Genetic | Transcription Factors - genetics | Muscle, Smooth, Vascular - cytology | Transcription Factors - metabolism | Cell Movement - drug effects | Homozygote | Cyclic GMP - metabolism | Blood Platelets - metabolism | Alleles | Coronary Artery Disease - genetics | Polymorphism, Single Nucleotide | Nitric Oxide - metabolism | RNA, Small Interfering - metabolism | Research | Gene expression | Coronary heart disease | Risk factors | Atherosclerosis | GWAS | human
Journal Article
Journal Article
Journal Article
by Kaiser, Frank J and Ansari, Morad and Braunholz, Diana and Concepción Gil-Roíguez, María and Decroos, Christophe and Wilde, Jonathan J and Fincher, Christopher T and Kaur, Maninder and Bando, Masashige and Amor, David J and Atwal, Paldeep S and Bahlo, Melanie and Bowman, Christine M and Bradley, Jacquelyn J and Brunner, Han G and Clark, Dinah and del Campo, Miguel and Di Donato, Nataliya and Diakumis, Peter and Dubbs, Holly and Dyment, David A and Eckhold, Juliane and Ernst, Sarah and Ferreira, Jose C and Francey, Lauren J and Gehlken, Ulrike and Guillén-Navarro, Encarna and Gyftodimou, Yolanda and Hall, Bryan D and Hennekam, Raoul and Hudgins, Louanne and Hullings, Melanie and Hunter, Jennifer M and Yntema, Helger and Innes, A. Micheil and Kline, Antonie D and Krumina, Zita and Lee, Hane and Leppig, Kathleen and Lynch, Sally Ann and Mallozzi, Mark B and Mannini, Linda and McKee, Shane and Mehta, Sarju G and Micule, Ieva and Mohammed, Shehla and Moran, Ellen and Mortier, Geert R and Moser, Joe-Ann S and Noon, Sarah E and Nozaki, Naohito and Nunes, Luis and Pappas, John G and Penney, Lynette S and Pérez-Aytés, Antonio and Petersen, Michael B and Puisac, Beatriz and Revencu, Nicole and Roeder, Elizabeth and Saitta, Sulagna and Scheuerle, Angela E and Schindeler, Karen L and Siu, Victoria M and Stark, Zornitza and Strom, Samuel P and Thiese, Heidi and Vater, Inga and Willems, Patrick and Williamson, Kathleen and Wilson, Louise C and Hakonarson, Hakon and Quintero-Rivera, Fabiola and Wierzba, Jolanta and Musio, Antonio and Gillessen-Kaesbach, Gabriele and Ramos, Feliciano J and Jackson, Laird G and Shirahige, Katsuhiko and Pié, Juan and Christianson, David W and Krantz, Ian D and Fitzpatrick, David R and Deardorff, Matthew A and Univ Washington Ctr Mendelian Geno and CareRare Canada Consortium and Care4Rare Canada Consortium and University of Washington Center for Mendelian Genomics
Human molecular genetics, ISSN 0964-6906, 2014, Volume 23, Issue 11, pp. 2888 - 2900
Journal Article
BBA - Gene Regulatory Mechanisms, ISSN 1874-9399, 11/2014, Volume 1839, Issue 11, pp. 1196 - 1204
encodes a transcription factor but its regulation is largely elusive. was shown to be repressed by THAP1 . Notably, mutations in both of these genes lead to... 
Regulation | Dystonia | Feed-back loop | Transcription | Expression | Compensation | STEM-CELLS | DOMAIN | RECOGNITION | BIOCHEMISTRY & MOLECULAR BIOLOGY | ZINC-FINGER | CLASSIFICATION | BIOPHYSICS | NEURONS | MUTATIONS | Gene mutations | Stem cells
Journal Article
Human Mutation, ISSN 1059-7794, 2014, Volume 36, Issue 1, pp. 26 - 29
Cornelia de Lange syndrome (CdLS) is a well characterized developmental disorder. The genetic cause of CdLS is a mutation in one of five associated genes... 
Life Sciences | Genetics
Journal Article
European journal of human genetics, ISSN 1018-4813, 2012, Volume 20, Issue 3, pp. 366 - 366
Cornelia de Lange syndrome (CdLS; or Brachmann-de Lange syndrome) is a dominantly inherited congenital malformation disorder with features that include... 
BIOCHEMISTRY & MOLECULAR BIOLOGY | GENETICS & HEREDITY | Daughters | De Lange's syndrome | Chromatin | Missense mutation | Growth rate | Deodorants | Congenital defects | N-Terminus | Cognitive ability | Cohesin | Mutation | Corrigendum
Journal Article
BioMed Research International, ISSN 2314-6133, 2016, Volume 2016, pp. 1 - 8
Cornelia de Lange syndrome (CdLS) is a rare genetically heterogeneous disorder with a high phenotypic variability including mental retardation, developmental... 
Journal Article