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Journal Article
American Journal of Clinical Pathology, ISSN 0002-9173, 09/2019, Volume 152, Issue Supplement_1, pp. S63 - S64
Abstract We report a case of a 15-year-old boy who presented with an intraventricular angiomatoid fibrous histiocytoma. The patient suffered a concussion... 
Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 08/2014, Volume 371, Issue 6, pp. 507 - 518
The stimulator of interferon genes (STING) protein bridges sensors of cytosolic DNA and the inflammatory pathway mediated by interferon-β. Activating mutations... 
MEDICINE, GENERAL & INTERNAL | FAMILIAL CHILBLAIN LUPUS | CYCLIC GMP-AMP | DNA | PROTEASOME SUBUNIT | LIPODYSTROPHY | SENSOR | MONOGENIC AUTOINFLAMMATORY DISEASES | EXPRESSION | I INTERFERON | INBORN-ERRORS | Up-Regulation | Phosphorylation | Humans | Infant | Male | Interferon-gamma - metabolism | Inflammation - metabolism | STAT1 Transcription Factor - metabolism | Skin Diseases, Vascular - genetics | Genes, Dominant | Female | Transcription, Genetic | Interferon-gamma - genetics | Cytokines - genetics | Infant, Newborn | Fibroblasts - metabolism | Skin Diseases, Vascular - metabolism | Cytokines - metabolism | Membrane Proteins - genetics | Sequence Analysis, DNA | Syndrome | Janus Kinases - antagonists & inhibitors | Lung Diseases - genetics | Pedigree | Age of Onset | Inflammation - genetics | Mutation | Pulmonary manifestations of general diseases | Blood circulation disorders | Genetic aspects | Research | Gene mutations | Risk factors | Transcription | Genes | Guanosine | Leukocytes (mononuclear) | Arthritis | Interleukin 6 | Cell activation | Vascular diseases | Lymphocytes | Cyclic GMP | Interleukin 1 | Peripheral blood | Fingers & toes | Fibroblasts | Janus kinase | Skin diseases | Children | Stat1 protein | Age | Deoxyribonucleic acid--DNA | Phenotypes | AMP | Patients | Endothelial cells | Studies | Biopsy | Ligands | Interferon | Autoimmune diseases | Apoptosis
Journal Article
by Kishi, Takayuki and Rider, Lisa G and Pak, Katherine and Barillas‐Arias, Lilliana and Henrickson, Michael and McCarthy, Paul L and Shaham, Bracha and Weiss, Pamela F and Horkayne‐Szakaly, Iren and Targoff, Ira N and Miller, Frederick W and Mammen, Andrew L and Abramson, Leslie S and Albert, Daniel A and Baer, Alan N and Balboni, Imelda M and Ballinger, Susan and Becker, Mara and Bingham, C. April and Bohnsack, John F and Botstein, Gary R and Carrasco, Ruy and Cartwright, Victoria W and Chao, Chun Peng T and Cron, Randy Q and Curiel, Rodolfo and DeGuzman, Marietta M and De la Pena, Wendy and Eberhard, B. Anne and Edelheit, Barbara S and Ellsworth, Janet and Finkel, Terri H and Fuhlbrigge, Robert C and Gabriel, Christos A and Gedalia, Abraham and Gewanter, Harry L and Goldmuntz, Ellen A and Goldsmith, Donald P and Gottlieb, Beth S and Graham, Brent and Griffin, Thomas A and Haftel, Hilary M and Hannan, William and Hennon, Teresa and Hoeltzel, Mark F and Hollister, J. Roger and Hopp, Russell J and Imundo, Lisa F and Jansen, Anna and Jarvis, James and Jerath, Rita S and Johnson, Courtney R and Jones, Olcay Y and Jung, Lawrence K and Kamdar, Ankur and Katona, Ildy M and Kim, Hanna and Kim, Susan and Kingsbury, Daniel J and Klein, Steven J and Lang, Bianca A and Levine, Johanan and Lindsley, Carol B and Mamyrova, Gulnara and Mitchell, Ray and Morishima, Chihiro and Moser, David W and Murphy, Frederick T and Myers, Linda K and Nanda, Kabita and Nativ, Simona and Oral, Elif A and Ostrov, Barbara E and Pappu, Ramesh and Parker, Christopher T and Passo, Murray H and Perez, Maria D and Person, Donald A and Punaro, Marilyn G and Rabinovich, C. Egla and Rennebohm, Robert M and Rivas‐Chacon, Rafael F and Ronis, Tova and Rosenkranz, Margalit and Schiffenbauer, Adam and Sheets, Robert M and Sherry, David D and Sills, Edward M and Sinal, Sara H and Stoll, Matthew and Sule, Sangeeta D and Sundel, Robert P and Vehe, Richard K and Vogelgesang, Scott A and Wargula, Jennifer C and Yung, Christine M and Zemel, Lawrence S and Childhood Myositis Heterogeneity S and Childhood Myositis Heterogeneity Study Group
Arthritis Care & Research, ISSN 2151-464X, 07/2017, Volume 69, Issue 7, pp. 1088 - 1094
Journal Article
Journal of the American College of Surgeons, ISSN 1072-7515, 2016, Volume 223, Issue 4, pp. e216 - e216
Journal Article
Radiographics, ISSN 0271-5333, 09/2016, Volume 36, Issue 5, pp. 1426 - 1447
Journal Article
Journal of Neuropathology & Experimental Neurology, ISSN 0022-3069, 09/2012, Volume 71, Issue 9, pp. 789 - 794
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 12/2012, Volume 91, Issue 6, pp. 1095 - 1102
Cowchock syndrome (CMTX4) is a slowly progressive X-linked recessive disorder with axonal neuropathy, deafness, and cognitive impairment. The disease locus was... 
MARIE-TOOTH-DISEASE | MENTAL-RETARDATION | GENETICS & HEREDITY | MOTOR-SENSORY NEUROPATHY | DEAFNESS | FACTOR AIF | CELL-DEATH | Neuroimaging | Exons | Humans | Apoptosis - genetics | Male | Muscle, Skeletal - metabolism | Mitochondria - ultrastructure | Charcot-Marie-Tooth Disease - genetics | Hearing Loss, Sensorineural - diagnosis | Mental Retardation, X-Linked - genetics | Apoptosis Inducing Factor - chemistry | Cell Nucleus - metabolism | Mitochondria - genetics | Base Sequence | Mental Retardation, X-Linked - diagnosis | Charcot-Marie-Tooth Disease - metabolism | Apoptosis Inducing Factor - metabolism | Hearing Loss, Sensorineural - metabolism | Oxidation-Reduction | Muscle, Skeletal - ultrastructure | Models, Molecular | Hearing Loss, Sensorineural - genetics | Mitochondria - metabolism | Apoptosis Inducing Factor - genetics | Protein Transport | Magnetic Resonance Imaging | Cell Nucleus - genetics | Pedigree | Brain - pathology | Protein Conformation | Muscle, Skeletal - pathology | Mutation | Charcot-Marie-Tooth Disease - diagnosis | Mental Retardation, X-Linked - metabolism | Charcot joints | Care and treatment | Research | Nucleotide sequencing | Gene mutations | DNA sequencing | Oxidases | Deafness | Nervous system diseases | Neurosciences | Genes | Genomics | Genetic research | Genetic aspects | Mitochondrial DNA | Apoptosis | Report
Journal Article
International Journal of Gynecological Pathology, ISSN 0277-1691, 01/2004, Volume 23, Issue 1, pp. 41 - 44
Journal Article
Annals of Medicine and Surgery, ISSN 2049-0801, 05/2019, Volume 41, pp. 20 - 28
Optimizing nerve regeneration and mitigating muscle atrophy are the keys to successful outcomes in peripheral nerve damage. We investigated whether mesenchymal... 
Sciatic nerve repair | Microsurgery | Cell therapy | Rat | Motor function | Mesenchymal stem cells
Journal Article
Annals of medicine and surgery (2012), ISSN 2049-0801, 05/2019, Volume 41, p. 20
Optimizing nerve regeneration and mitigating muscle atrophy are the keys to successful outcomes in peripheral nerve damage. We investigated whether mesenchymal... 
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 03/2015, Volume 114, Issue 3, pp. 474 - 482
Journal Article
Acta neuropathologica communications, ISSN 2051-5960, 2014, Volume 2, Issue 1, p. 153
Journal Article
Molecular Genetics and Metabolism Reports, ISSN 2214-4269, 09/2018, Volume 16, pp. 76 - 81
Exertional rhabdomyolysis is a metabolic event characterized by the release of muscle content into the circulation due to exercise-driven breakdown of skeletal... 
Multiple genetic variants | Synergistic heterozygosity | Mitochondrial diseases | Oligogenic inheritance | Metabolic disorders | Exertional rhabdomyolysis | OXIDATION | MALIGNANT HYPERTHERMIA | MYOPATHY | DEFICIENCY | INBORN-ERRORS | SKELETAL-MUSCLE | METABOLISM | GENETICS & HEREDITY | GLYCOGENOLYSIS | MUTATIONS
Journal Article
Case reports in genetics, ISSN 2090-6544, 2018, Volume 2018, pp. 6898546 - 6
Individuals with Sickle Cell Trait (SCT), generally considered a benign carrier state of hemoglobin S (HbAS), are thought to be at risk for exertional... 
Journal Article