المؤلفون: Reem Kais Jan, Daniel L. Kastner, Francesco Boin, Chris T. Derk, Kathleen D. Kolstad, Vivien Hsu, Heather Gladue, Virginia D. Steen, Avram Goldberg, Paula S. Ramos, Victoria K. Shanmugam, Dinesh Khanna, Lorinda Chung, Ayo P. Doumatey, Richard M. Silver, Elana J. Bernstein, Amy R. Bentley, Pravitt Gourh, Nadia D. Morgan, Ami A. Shah, Maureen D. Mayes, Lesley Ann Saketkoo, Fredrick M. Wigley, Steven E. Boyden, Brynn Kron, Elena Schiopu, Benjamin D. Korman, Lindsey A. Criswell, Peter J. Steinbach, S. Louis Bridges, Suzanne Kafaja, Thomas A. Medsger, Daniel Shriner, James C. Mullikin, Settara C. Chandrasekharappa, Jessica K. Gordon, Robyn T. Domsic, Elaine F. Remmers, John Varga, Adebowale Adeyemo, Sarah A. Safran, Theresa Alexander, Marcin Trojanowski, Charles N. Rotimi

المصدر: Proceedings of the National Academy of Sciences of the United States of America
Proceedings of the National Academy of Sciences of the United States of America, vol 117, iss 1

مصطلحات موضوعية: Male, 0301 basic medicine, Secondary, Medical Sciences, autoantibodies, Sequence Homology, Datasets as Topic, medicine.disease_cause, Autoantigens, Scleroderma, 0302 clinical medicine, HLA Antigens, Phycodnaviridae, scleroderma, Viral, molecular mimicry, skin and connective tissue diseases, African Americans, education.field_of_study, Multidisciplinary, integumentary system, Biological Sciences, 3. Good health, HLA, Amino Acid, Molecular mimicry, Female, Mimiviridae, Protein Structure, European Continental Ancestry Group, Population, mimivirus, Human leukocyte antigen, Biology, Risk Assessment, 03 medical and health sciences, Antigen, medicine, Humans, Genetic Predisposition to Disease, Amino Acid Sequence, Antigens, Allele, education, Allele frequency, Alleles, 030203 arthritis & rheumatology, Systemic, Autoantibody, Computational Biology, medicine.disease, 030104 developmental biology, Immunology

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4a93c337973c75c6b198b9d9bb23399bTest
https://doi.org/10.1073/pnas.1906593116Test

المؤلفون: John I. Nurnberger, Denise E. Mauldin, Tatyana Shekhtman, Nathan D. Price, Richard Gelinas, Seth A. Ament, Francis J. McMahon, Nirmala Akula, Leroy Hood, Katherine Rouleau, Jared C. Roach, Elliot S. Gershon, Judith A. Badner, Howard J. Edenberg, Sevilla D. Detera-Wadleigh, Mary E. Brunkow, Anna-Barbara Stittrich, John R. Kelsoe, Gustavo Glusman, Liping Hou, Nicholas J. Schork, Justin Ashworth, David Craig, Szabolcs Szelinger

المصدر: Proceedings of the National Academy of Sciences. 112:3576-3581

مصطلحات موضوعية: Male, Candidate gene, Bipolar Disorder, European Continental Ancestry Group, Biology, Polymorphism, Single Nucleotide, Genome, White People, Risk Factors, CAMK2A, Humans, Missense mutation, Genetic Predisposition to Disease, ANK3, Gene, Genetic Association Studies, Genetic association, Neurons, Genetics, Multidisciplinary, CACNG2, Genetic Variation, Biological Sciences, Pedigree, Case-Control Studies, biology.protein, Female, Signal Transduction

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::39d7813b2aa071ffc1e3849c540914edTest
https://doi.org/10.1073/pnas.1424958112Test

المؤلفون: Agueda Rostagno, Gordon T. Plant, Ruben Vidal, Blas Frangione, Hans Brændgaard, Tamas Revesz, Jorge Ghiso, Eugene Kim, Marie Bojsen-Møller, Toke Bek, Janice L. Holton

المصدر: Vidal, R, Revesz, T, Rostagno, A, Kim, E, Holton, J L, Bek, T, Bojsen-Møller, M, Braendgaard, H, Plant, G, Ghiso, J & Frangione, B 2000, ' A decamer duplication in the 3' region of the BRI gene originates an amyloid peptide that is associated with dementia in a Danish kindred ', Proceedings of the National Academy of Sciences of the United States of America, vol. 97, no. 9, pp. 4920-5 . https://doi.org/10.1073/pnas.080076097Test

مصطلحات موضوعية: Male, Amyloid, Denmark, European Continental Ancestry Group, Molecular Sequence Data, Biology, White People, Gene Duplication, mental disorders, Gene duplication, medicine, Humans, Dementia, Integral membrane protein 2B, Amino Acid Sequence, education, 3' Untranslated Regions, Gene, Adaptor Proteins, Signal Transducing, Genetics, education.field_of_study, Membrane Glycoproteins, Multidisciplinary, Base Sequence, Sequence Homology, Amino Acid, Point mutation, Neurodegeneration, Membrane Proteins, Biological Sciences, medicine.disease, Temporal Lobe, Stop codon, Pedigree, Female, Cerebral amyloid angiopathy, Sequence Alignment

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3b011b83dbd06a4366197f5c454468cbTest
https://doi.org/10.1073/pnas.080076097Test