المؤلفون: Shupeng Wang, Wen Li, Chen Li, Xue-Yan Duan, Jun Duan

المصدر: Journal of Cellular and Molecular Medicine

مصطلحات موضوعية: Lipopolysaccharides, Male, 0301 basic medicine, Autophagy-Related Proteins, Down-Regulation, ATG16L1, Single-nucleotide polymorphism, Polymorphism, Single Nucleotide, Peripheral blood mononuclear cell, Pathogenesis, Pulmonary Disease, Chronic Obstructive, 03 medical and health sciences, 0302 clinical medicine, Risk Factors, single nucleotide polymorphism, ventilator‐associated pneumonia, microRNA, Genotype, Autophagy, Humans, Medicine, Genetic Predisposition to Disease, Alleles, Aged, Interleukin-6, Tumor Necrosis Factor-alpha, business.industry, Incidence, Ventilator-associated pneumonia, Pneumonia, Ventilator-Associated, Original Articles, Cell Biology, Transfection, Middle Aged, medicine.disease, respiratory tract diseases, MicroRNAs, 030104 developmental biology, Gene Expression Regulation, Case-Control Studies, 030220 oncology & carcinogenesis, Immunology, Leukocytes, Mononuclear, Molecular Medicine, Female, Original Article, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::62bf6dfe402779455db2e0f2690b4f80Test
https://doi.org/10.1111/jcmm.15824Test

المؤلفون: Xue Yan Duan, Bert B.A. de Vries, Michael J. Bamshad, Dorothy K. Grange, Callie S. Kwartler, Deborah A. Nickerson, Dongchuan Guo, Dieter Kotzot, Xuetong Shen, Ellen S. Regalado, Rolph Pfundt, Dianna M. Milewicz, Kenneth Lieberman, Alan C. Braverman, Heather L. Gornik, Lauren Mellor-Crummey, Albert Schinzel, Min-Lee Yang, Santhi K. Ganesh, Dong H. Kim

المساهمون: University of Zurich, Milewicz, Dianna M

المصدر: American Journal of Human Genetics, 100, 21-30
American Journal of Human Genetics, 100, 1, pp. 21-30

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Heterozygote, 2716 Genetics (clinical), medicine.medical_specialty, Vascular smooth muscle, Adolescent, 10039 Institute of Medical Genetics, DNA repair, Cell Cycle Proteins, Genes, Recessive, 610 Medicine & health, Fibromuscular dysplasia, Biology, Compound heterozygosity, Article, Bone and Bones, Muscle, Smooth, Vascular, Frameshift mutation, 03 medical and health sciences, 1311 Genetics, Internal medicine, Genetics, medicine, Fibromuscular Dysplasia, Humans, Exome, Genetics (clinical), Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Learning Disabilities, Vascular disease, Brachydactyly, Homozygote, Nuclear Proteins, Grange syndrome, Cell Cycle Checkpoints, Syndrome, Middle Aged, Cell cycle, medicine.disease, Pedigree, 030104 developmental biology, Endocrinology, Mutation, 570 Life sciences, biology, Female, Syndactyly, Transcription Factors

وصف الملف: Dong-chuan_Guo_et_al,_Loss-of-Function_Mutations_in_YY1AP1.pdf - application/pdf; application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e360a5dd25aea135da58506d41d812e7Test
https://doi.org/10.1016/j.ajhg.2016.11.008Test

المؤلفون: Limin Gong, Siddharth K. Prakash, Lawrence Yang Zhu, Regie Lyn P. Santos-Cortez, Shao Qing Kuang, Corey L. Reynolds, Ellen S. Regalado, Eric C. Swindell, Xue Yan Duan, Suzanne M. Leal, Deborah A. Nickerson, Jay Shendure, Guillaume Jondeau, Michael J. Bamshad, Catherine Boileau, Callie S. Kwartler, Milan Jamrich, Andrew M. Peters, Mark W. Majesky, Olga Medina-Martinez, Dianna M. Milewicz, Dongchuan Guo, Xiu-Rong Dong

المصدر: Journal of Clinical Investigation. 126:948-961

مصطلحات موضوعية: Adult, Cyclin-Dependent Kinase Inhibitor p21, Male, 0301 basic medicine, Pathology, medicine.medical_specialty, Myocytes, Smooth Muscle, Mutation, Missense, Gene Expression, Apoptosis, Vascular Remodeling, Biology, Muscle, Smooth, Vascular, 03 medical and health sciences, Aortic aneurysm, Aneurysm, medicine.artery, Ascending aorta, medicine, Animals, Humans, Myocyte, Thoracic aorta, Genetic Predisposition to Disease, Aortic rupture, Aorta, Cells, Cultured, Genetic Association Studies, Zebrafish, Mice, Knockout, Aortic Aneurysm, Thoracic, Forkhead Transcription Factors, General Medicine, Anatomy, Middle Aged, medicine.disease, Pedigree, Mice, Inbred C57BL, Aortic Dissection, 030104 developmental biology, cardiovascular system, Aortic pressure, Female, Tumor Suppressor Protein p53, Research Article

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d448f8339ae3569f0da7c02ad30cbc66Test
https://doi.org/10.1172/jci83778Test

المؤلفون: Alexandra Janda, Jian Huang, Richard J. Kulmacz, James T. Stull, Xue Yan Duan, Dongchuan Guo, Kristine E. Kamm, Limin Gong, Jiyuan Chen, Dianna M. Milewicz, Shanzhi Wang, Callie S. Kwartler

مصطلحات موضوعية: 0301 basic medicine, Pathology, medicine.medical_specialty, Aortic Diseases, Aorta, Thoracic, Disease, 030204 cardiovascular system & hematology, 03 medical and health sciences, symbols.namesake, Mice, 0302 clinical medicine, Report, Genetics, MYH11, Medicine, Animals, Humans, Family history, Gene, Genetics (clinical), Aortic dissection, biology, Aortic Aneurysm, Thoracic, business.industry, Genetic Variation, MYLK, medicine.disease, Actins, Aortic Dissection, Disease Models, Animal, 030104 developmental biology, biology.protein, Mendelian inheritance, symbols, cardiovascular system, ACTA2, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::612a8c0ca3edea34b38a9a69b8581259Test
https://europepmc.org/articles/PMC6035370Test/

المؤلفون: Regie Lyn P. Santos-Cortez, Deborah A. Nickerson, Xue-Yan Duan, Jay Shendure, Ellen S. Regalado, Dianna M. Milewicz, Zhao Ren, Ellen M. Hostetler, Bo Cai, Rocio Moran, Anthony L. Estrera, Hazim J. Safi, Catherine Boileau, Guillaume Jondeau, Michael J. Bamshad, Pauline Arnaud, Dongchuan Guo, David Liang, Suzanne M. Leal, Limin Gong

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Physiology, Population, Molecular Sequence Data, Lysyl oxidase, 030204 cardiovascular system & hematology, Biology, medicine.disease_cause, Article, Protein-Lysine 6-Oxidase, 03 medical and health sciences, Aortic aneurysm, 0302 clinical medicine, medicine.artery, medicine, Thoracic aorta, Humans, Amino Acid Sequence, education, Exome, Exome sequencing, Aged, Genetics, Mutation, education.field_of_study, Aortic Aneurysm, Thoracic, Genetic Variation, Middle Aged, medicine.disease, Pedigree, Aortic Dissection, 030104 developmental biology, Female, Cardiology and Cardiovascular Medicine, Haploinsufficiency

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d7284e27b315e6b8b7345258db60f871Test
https://europepmc.org/articles/PMC4839295Test/