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eLife, ISSN 2050-084X, 2015, Volume 4, Issue 4
Myopathies decrease muscle functionality. Mutations in ryanodine receptor 1 (RyR1) are often associated with myopathies with microscopic core-like structures... 
mouse | cell biology | ryanodine receptor | KATP channel | potassium homeostasis | human | congenital myopathy | SKELETAL-MUSCLE | MALIGNANT HYPERTHERMIA | SENSITIVE K+ CHANNELS | CA2+ RELEASE | INTRACELLULAR CALCIUM | BIOLOGY | HYPOKALEMIC PERIODIC PARALYSIS | MOLECULAR-CLONING | CHANNEL RYANODINE RECEPTOR | ENERGY TURNOVER | MUSCLE SARCOPLASMIC-RETICULUM | Potassium - metabolism | Calcium - metabolism | Humans | Ryanodine Receptor Calcium Release Channel - metabolism | RNA, Messenger - metabolism | Mitochondria - ultrastructure | Glyburide - pharmacology | Muscle, Skeletal - drug effects | Ethylnitrosourea | Biological Transport - drug effects | Homeostasis - drug effects | Myopathy, Central Core - genetics | NAD - metabolism | Biomarkers - metabolism | Mice, Inbred C57BL | RNA, Messenger - genetics | Muscle, Skeletal - ultrastructure | Mitochondria - metabolism | Muscular Diseases - pathology | Mitochondria - drug effects | Mutation - genetics | Gene Expression Regulation - drug effects | KATP Channels - metabolism | Phenotype | Animals | Myopathy, Central Core - pathology | Diet | Ryanodine Receptor Calcium Release Channel - genetics | Biopsy | Heterozygote | Muscle, Skeletal - pathology | Muscular Diseases - genetics | Medical research | Congenital diseases | Disease | Homeostasis | Ryanodine receptors | Fatigue | Potassium channels | Drug development | Muscle contraction | Calcium (mitochondrial) | Fever | Mitochondria | Rodents | Mutation | Laboratory animals | Central core disease | Potassium | Myopathy | Index Medicus
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 06/2012, Volume 90, Issue 6, pp. 1014 - 1027
Journal Article
Nature, ISSN 0028-0836, 09/2012, Volume 489, Issue 7415, pp. 313 - 317
Cornelia de Lange syndrome (CdLS) is a dominantly inherited congenital malformation disorder, caused by mutations in the cohesin-loading protein NIPBL1,2 for... 
SISTER-CHROMATID COHESION | NIPPED-B | COMPLEX | NIPBL | HUMAN GENOME | RNA-SEQ | MULTIDISCIPLINARY SCIENCES | X-CHROMOSOME-INACTIVATION | S-PHASE | PROTEINS | BINDING | Chromatin - metabolism | Chondroitin Sulfate Proteoglycans - chemistry | Humans | Crystallography, X-Ray | Male | Phosphoproteins - metabolism | Cell Cycle Proteins - chemistry | Chromatin Immunoprecipitation | Repressor Proteins - deficiency | De Lange Syndrome - metabolism | Fibroblasts | Female | Transcription, Genetic | Acetylation | Binding Sites | Repressor Proteins - metabolism | De Lange Syndrome - genetics | Repressor Proteins - chemistry | Chromosomal Proteins, Non-Histone - metabolism | Histone Deacetylases - genetics | Cell Cycle Proteins - metabolism | Chondroitin Sulfate Proteoglycans - metabolism | Histone Deacetylases - chemistry | Histone Deacetylases - deficiency | Mutant Proteins - genetics | Prophase | Models, Molecular | Repressor Proteins - genetics | Histone Deacetylases - metabolism | Mutant Proteins - metabolism | Nuclear Proteins - metabolism | Mutation - genetics | Proteins - genetics | Mutant Proteins - chemistry | Protein Conformation | HeLa Cells | Adaptor Proteins, Signal Transducing - metabolism | Anaphase | Chromatin - genetics | Chromosomal Proteins, Non-Histone - chemistry | Genetics | De Lange syndrome | Genetic aspects | Research | Mutation (Biology) | Proteins | Cell culture | Genes | Cell cycle | Mutation | Females | Chromosomes | Crystal structure | Index Medicus | Chromatin | Repressor Proteins | Life Sciences | Phosphoproteins | Chromosomal Proteins, Non-Histone | Histone Deacetylases | De Lange Syndrome | Chondroitin Sulfate Proteoglycans | Nuclear Proteins | Mutant Proteins | Adaptor Proteins, Signal Transducing | Development Biology | Cell Cycle Proteins
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
Journal Article
Journal Article
Heart rhythm, ISSN 1547-5271, 2010, Volume 7, Issue 7, pp. 912 - 919
BACKGROUND:: Considering that ~2% of Caucasian controls host rare, non-synonymous variants in the SCN5A-encoded cardiac sodium channel, caution must be... 
Journal Article
Journal Article
The Journal of biological chemistry, ISSN 0021-9258, 11/2006, Volume 281, Issue 46, pp. 34973 - 34981
The members of the NF-kappaB transcription factor family are key regulators of gene expression in the immune response. Different combinations of NF-kappaB... 
Amino Acid Sequence | Animals | I-kappa B Kinase - metabolism | Transcription Factor RelA - metabolism | Humans | Cells, Cultured | Mice | Transcriptional Activation - physiology | NF-kappa B p52 Subunit - metabolism | Index Medicus
Journal Article
British Journal of Ophthalmology, ISSN 0007-1161, 09/2011, Volume 95, Issue 9, p. 1337
Journal Article
British Journal of Ophthalmology, ISSN 0007-1161, 09/2011, Volume 95, Issue 9, p. 1336
Journal Article
British Journal of Ophthalmology, ISSN 0007-1161, 09/2011, Volume 95, Issue 9, pp. 1336 - 1337
Journal Article
British Journal of Ophthalmology, ISSN 0007-1161, 09/2011, Volume 95, Issue 9, p. 1337
Journal Article