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Nature Genetics, ISSN 1061-4036, 09/2014, Volume 46, Issue 10, pp. 1140 - 1146
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
Journal of Bone and Mineral Research, ISSN 0884-0431, 05/2019, Volume 34, Issue 5, pp. 883 - 895
ABSTRACT Melorheostosis is a rare non‐hereditary condition characterized by dense hyperostotic lesions with radiographic “dripping candle wax” appearance.... 
MICRO‐CT | MELORHEOSTOSIS | NANOINDENTATION | BONE BIOPSIES | HISTOLOGY | QUANTITATIVE BACKSCATTERED ELECTRON IMAGING (qBEI) | MICRO-CT | Genetic research | Bones | Genetic aspects | Hardness | Density | Phenotypes | Bone lesions | Calcium | Melorheostosis | Mechanical properties | Lamellae | Trauma | Osteoid | Apposition | Computed tomography | Biopsy | Mineralization | Porosity | Mutation | Bone imaging | Bone composition
Journal Article
Nature Communications, ISSN 2041-1723, 12/2018, Volume 9, Issue 1, pp. 1390 - 12
Melorheostosis is a sporadic disease of uncertain etiology characterized by asymmetric bone overgrowth and functional impairment. Using whole exome sequencing,... 
MEK1 MUTATIONS | OSTEOBLAST DIFFERENTIATION | PROTEIN | BONE DYSPLASIA | MULTIDISCIPLINARY SCIENCES | LUNG ADENOCARCINOMA | GERMLINE MUTATIONS | BUSCHKE-OLLENDORFF-SYNDROME | SCLEROSTEOSIS | MAPK PATHWAY | OSTEOPOIKILOSIS | Bone and Bones - pathology | Melorheostosis - metabolism | Cell Proliferation | Skin - metabolism | Humans | Melorheostosis - pathology | MAP Kinase Kinase 1 - genetics | Bone Morphogenetic Protein 2 - metabolism | Bone and Bones - metabolism | Mitogen-Activated Protein Kinase 1 - genetics | Cell Differentiation | Osteogenesis - genetics | Skin - pathology | Bone Morphogenetic Protein 2 - genetics | Mitogen-Activated Protein Kinase 3 - genetics | Signal Transduction | Gene Expression Regulation | MAP Kinase Kinase 1 - metabolism | Whole Exome Sequencing | Osteoblasts - pathology | Melorheostosis - genetics | Mitogen-Activated Protein Kinase 3 - metabolism | Calcification, Physiologic | Mosaicism | Mutation | Primary Cell Culture | Osteoblasts - metabolism | Mitogen-Activated Protein Kinase 1 - metabolism | Cell proliferation | Immunohistochemistry | Flow cytometry | Melorheostosis | Osteoblasts | Bone growth | Cell activation | Biomedical materials | Etiology | Mineralization | Skin diseases | Biocompatibility | Lesions | Bone lesions | Bone morphogenetic protein 2 | Therapeutic applications | Extracellular signal-regulated kinase | Histology | Patients | Osteoid | Cytometry | Osteoblastogenesis | Skin | Bone | Osteogenesis
Journal Article
Journal Article
The Journal of Allergy and Clinical Immunology, ISSN 0091-6749, 05/2018, Volume 141, Issue 5, pp. 1943 - 1947.e9
On receptor stimulation, MyD88 oligomerizes, causing recruitment and activation of IRAKs to form the myddosome (ie, MyD88 signaling complex),1 ultimately... 
B-CELL LYMPHOMA | SOMATIC MUTATION | KAPPA-B | IMMUNOLOGY | ALLERGY | DEFICIENCY | Antigens | Phosphorylation | Dendritic cells | Laboratories | Chicken pox | Neutrophils | Arthritis | Gene expression | Kinases | E.S.R | Proteins | Lymphocytes | Fibroblasts | MyD88 protein | Software | Mutation
Journal Article
by J. Craig Venter and Mark D. Adams and Eugene W. Myers and Peter W. Li and Richard J. Mural and Granger G. Sutton and Hamilton O. Smith and Mark Yandell and Cheryl A. Evans and Robert A. Holt and Jeannine D. Gocayne and Peter Amanatides and Richard M. Ballew and Daniel H. Huson and Jennifer Russo Wortman and Qing Zhang and Chinnappa D. Kodira and Xiangqun H. Zheng and Lin Chen and Marian Skupski and Gangadharan Subramanian and Paul D. Thomas and Jinghui Zhang and George L. Gabor Miklos and Catherine Nelson and Samuel Broder and Andrew G. Clark and Joe Nadeau and Victor A. McKusick and Norton Zinder and Arnold J. Levine and Richard J. Roberts and Mel Simon and Carolyn Slayman and Michael Hunkapiller and Randall Bolanos and Arthur Delcher and Ian Dew and Daniel Fasulo and Michael Flanigan and Liliana Florea and Aaron Halpern and Sridhar Hannenhalli and Saul Kravitz and Samuel Levy and Clark Mobarry and Knut Reinert and Karin Remington and Jane Abu-Threideh and Ellen Beasley and Kendra Biddick and Vivien Bonazzi and Rhonda Brandon and Michele Cargill and Ishwar Chandramouliswaran and Rosane Charlab and Kabir Chaturvedi and Zuoming Deng and Valentina Di Francesco and Patrick Dunn and Karen Eilbeck and Carlos Evangelista and Andrei E. Gabrielian and Weiniu Gan and Wangmao Ge and Fangcheng Gong and Zhiping Gu and Ping Guan and Thomas J. Heiman and Maureen E. Higgins and Rui-Ru Ji and Zhaoxi Ke and Karen A. Ketchum and Zhongwu Lai and Yiding Lei and Zhenya Li and Jiayin Li and Yong Liang and Xiaoying Lin and Fu Lu and Gennady V. Merkulov and Natalia Milshina and Helen M. Moore and Ashwinikumar K Naik and Vaibhav A. Narayan and Beena Neelam and Deborah Nusskern and Douglas B. Rusch and Steven Salzberg and Wei Shao and Bixiong Shue and Jingtao Sun and Zhen Yuan Wang and Aihui Wang and Xin Wang and Jian Wang and Ming-Hui Wei and Ron Wides and Chunlin Xiao and Chunhua Yan and ...
Science, ISSN 0036-8075, 2/2001, Volume 291, Issue 5507, pp. 1304 - 1351
Journal Article