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: Joseph S. Coselli, Julie De Backer, Anthony L. Estrera, Hazim J. Safi, Scott A. LeMaire, Dongchuan Guo, Dianna M. Milewicz, Hong Shen, Michael J. Bamshad, Deborah A. Nickerson, Xue-Yan Duan, Ellen S. Regalado

المصدر: Eur J Hum Genet

مصطلحات موضوعية: Male, Pathology, medicine.medical_specialty, Proteasome Endopeptidase Complex, animal structures, Population, Mutation, Missense, Protein degradation, medicine.disease_cause, Article, Aortic aneurysm, Aneurysm, Genetics, medicine, Missense mutation, Humans, Family, education, Telangiectasia, Genetics (clinical), Smad4 Protein, Mutation, education.field_of_study, integumentary system, Aortic Aneurysm, Thoracic, business.industry, Ubiquitination, Middle Aged, medicine.disease, digestive system diseases, Aortic Dissection, Amino Acid Substitution, embryonic structures, Proteolysis, Female, Age of onset, medicine.symptom, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::365a1c37e3639a51863e69408db7c4afTest
https://pubmed.ncbi.nlm.nih.gov/30809044Test

المؤلفون: Ruili Yang, Chider Chen, Takayoshi Yamaza, Xue Yan Duan, Xin-Hua Feng, Yi Liu, Cunye Qu, Xia Lin, Kentaro Akiyama, Haiyan Qin, Yi-Bu Chen, Songtao Shi, Hank H. Qi, Anh D. Le, Qunzhou Zhang

المصدر: Cell Stem Cell. 13(5):577-589

مصطلحات موضوعية: Biology, Bioinformatics, Article, Epigenesis, Genetic, Course of action, 03 medical and health sciences, Mice, 0302 clinical medicine, Transforming Growth Factor beta, medicine, Genetics, Animals, Humans, Epigenetics, Smad3 Protein, Autocrine signalling, 030304 developmental biology, 0303 health sciences, Notice, LOOP (programming language), Basic Helix-Loop-Helix Leucine Zipper Transcription Factors, Mesenchymal stem cell, Transforming growth factor beta, Cell Biology, Ossifying fibroma, medicine.disease, Phenotype, 030220 oncology & carcinogenesis, Fibroma, Ossifying, Cancer research, biology.protein, Neoplastic Stem Cells, Tumor Stem Cells, Molecular Medicine, Fibroma, Stem cell, Transforming growth factor

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aa455f86d940742703c736e55dfc9817Test

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/