نتائج البحث - "Michael H. Guo"

المصدر: Cell
Lettre, G & Auer, P L 2020, ' Trans-ethnic and Ancestry-Specific Blood-Cell Genetics in 746,667 Individuals from 5 Global Populations ', Cell, vol. 182, no. 5, pp. 1198-1213.e14 . https://doi.org/10.1016/j.cell.2020.06.045
Cell, 182(5), 1198-1213.e14. Cell Press
Chen, M-H, Raffield, L M, Mousas, A, Sakaue, S, Huffman, J E, Moscati, A, Trivedi, B, Jiang, T, Akbari, P, Vuckovic, D, Bao, E L, Zhong, X, Manansala, R, Laplante, V, Chen, M, Lo, K S, Qian, H, Lareau, C A, Beaudoin, M, Hunt, K A, Akiyama, M, Bartz, T M, Ben-Shlomo, Y, Beswick, A, Bork-Jensen, J, Bottinger, E P, Brody, J A, van Rooij, F J A, Chitrala, K, Cho, K, Choquet, H, Correa, A, Danesh, J, Di Angelantonio, E, Dimou, N, Ding, J, Elliott, P, Esko, T, Evans, M K, Floyd, J S, Broer, L, Grarup, N, Guo, M H, Greinacher, A, Haessler, J, Hansen, T, Howson, J M M, Linneberg, A, Pedersen, O, Loos, R J F & VA Million Veteran Program 2020, ' Trans-ethnic and Ancestry-Specific Blood-Cell Genetics in 746,667 Individuals from 5 Global Populations ', Cell, vol. 182, no. 5, pp. 1198-+ . https://doi.org/10.1016/j.cell.2020.06.045

مصطلحات موضوعية: LOCI, Mutation, Missense, Ethnic group, POLYGENIC RISK SCORES, HUMAN HEMATOPOIESIS, Biology, BIOBANK, phenome-wide association study, Polymorphism, Single Nucleotide, DISEASE, White People, General Biochemistry, Genetics and Molecular Biology, Article, Blood cell, 03 medical and health sciences, SINGLE-CELL, selective sweeps, 0302 clinical medicine, Asian People, parasitic diseases, Genetics, medicine, Humans, GENOME-WIDE ASSOCIATION, 030304 developmental biology, AFRICAN-AMERICANS, 0303 health sciences, interleukin-7, Interleukin-7, genetic architecture, Genetic architecture, TRAIT, HEK293 Cells, Phenotype, medicine.anatomical_structure, fine-mapping, polygenic trait score, lipids (amino acids, peptides, and proteins), FREQUENCY CODING VARIANTS, 030217 neurology & neurosurgery, Genome-Wide Association Study

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e1811f60972354d4d9bffd608966f4ea
https://pure.eur.nl/en/publications/b0512e42-bb15-4b65-9524-08ef2dd4cd7d

6

Dissection of multiple sclerosis genetics identifies B and CD4+ T cells as driver cell subsets

المؤلفون: Michael H. Guo, Prashanth Sama, Brenna A. LaBarre, Hrishikesh Lokhande, John Balibalos, Ci Chu, Xiaomi Du, Pouya Kheradpour, Charles C. Kim, Taylor Oniskey, Thomas Snyder, Damien Z. Soghoian, Howard L. Weiner, Tanuja Chitnis, Nikolaos A. Patsopoulos

المصدر: Genome biology. 23(1)

مصطلحات موضوعية: CD4-Positive T-Lymphocytes, B-Lymphocytes, Multiple Sclerosis, Immunity, Humans, Chromatin

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3c8d6172c01ed1a7ffe3535426ff4e54
https://pubmed.ncbi.nlm.nih.gov/35672799

Find this article in full text from Springer Verlag.

Find this article in full text from ProQuest

7

High-throughput splicing assays identify missense and silent splice-disruptive POU1F1 variants underlying pituitary hormone deficiency

المساهمون: University of Michigan [Ann Arbor], University of Michigan System, Universidade de São Paulo = University of São Paulo (USP), University Hospital Leipzig, Universidad de Buenos Aires [Buenos Aires] (UBA), Marseille medical genetics - Centre de génétique médicale de Marseille (MMG), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut Marseille Maladies Rares (MarMaRa), Aix Marseille Université (AMU), Service d'endocrinologie, diabète, maladies métaboliques [Hôpital de la Conception - APHM], University of Luebeck, Hospital de Niños 'Ricardo Gutiérrez', Laboratoire de Biochimie et de Biologie Moléculaire [Hôpital de la Conception - APHM], Hôpital de la Conception [CHU - APHM] (LA CONCEPTION), Leipzig University, West Chester University of Pennsylvania (WCUPA), National Children's Hospital, National Institutes of Health (R01HD097096to SAC, R01GM129123 to JOK), the Japan Society for Promotion of Science (HB), Grant 2013/03236-5 from the São Paulo Research Foundation (FAPESP) (IJPA), a grant from Pfizer (RP), and the Argentinean National Agency of Scientific and Technical Promotion, PICT 2016-2913 and PICT 2017-0002 (MIPM), Universidade de São Paulo (USP), University of Leipzig Medical Center, Gall, Valérie

المصدر: American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2021, 108 (8), pp.1526-1539. ⟨10.1016/j.ajhg.2021.06.013⟩
Am J Hum Genet

مصطلحات موضوعية: Adult, Male, Gene isoform, growth hormone deficiency, PIT-1, variants of uncertain significance, Adolescent, RNA Splicing, [SDV]Life Sciences [q-bio], Repressor, 030209 endocrinology & metabolism, [SDV.GEN] Life Sciences [q-bio]/Genetics, Biology, Article, Growth hormone deficiency, 03 medical and health sciences, alternative splicing, 0302 clinical medicine, multiplexed assays of variant effects, Genetics, medicine, Humans, Missense mutation, splice, transcriptional regulation, Child, massively parallel splicing assay, Genetics (clinical), Loss function, 030304 developmental biology, 0303 health sciences, [SDV.GEN]Life Sciences [q-bio]/Genetics, [SDV.MHEP] Life Sciences [q-bio]/Human health and pathology, Alternative splicing, medicine.disease, High-Throughput Screening Assays, Pedigree, [SDV] Life Sciences [q-bio], Pituitary Hormones, hypopituitarism, Child, Preschool, Mutation, RNA splicing, Transcription Factor Pit-1, General Economics, Econometrics and Finance, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology