المؤلفون: Correa-da-Silva, Felipe, Carter, Jenny, Wang, Xin-Yuan, Sun, Rui, Pathak, Ekta, Kuhn, José Manuel Monroy, Schriever, Sonja C, Maya-Monteiro, Clarissa M, Jiao, Han, Kalsbeek, Martin J, Moraes-Vieira, Pedro M M, Gille, Johan J P, Sinnema, Margje, Stumpel, Constance T R M, Curfs, Leopold M G, Stenvers, Dirk Jan, Pfluger, Paul T, Lutter, Dominik, Pereira, Alberto M, Kalsbeek, Andries, Fliers, Eric, Swaab, Dick F, Wilkinson, Lawrence, Gao, Yuanqing, Yi, Chun-Xia

المصدر: Correa-da-Silva , F , Carter , J , Wang , X-Y , Sun , R , Pathak , E , Kuhn , J M M , Schriever , S C , Maya-Monteiro , C M , Jiao , H , Kalsbeek , M J , Moraes-Vieira , P M M , Gille , J J P , Sinnema , M , Stumpel , C T R M , Curfs , L M G , Stenvers , D J , Pfluger , P T , Lutter , D , Pereira , A M , Kalsbeek , A , Fliers , ....

مصطلحات موضوعية: Fornix, Glymphatic system, Hypothalamus, Immunosurveillance, Microglia, Myelin, Oxytocin, Humans, Mice, Animals, Prader-Willi Syndrome/genetics psychology, Carrier Proteins/genetics, Phenotype, Phagosomes, Adaptor Proteins, Signal Transducing/genetics

العلاقة: https://cris.maastrichtuniversity.nl/en/publications/f60d0a7b-53ac-4c68-9991-bd1064bbe42dTest

الإتاحة: https://doi.org/10.1007/s00401-024-02714-0Test
https://cris.maastrichtuniversity.nl/en/publications/f60d0a7b-53ac-4c68-9991-bd1064bbe42dTest

المؤلفون: Lafontaine, Nicole, Shore, Christopher J., Campbell, Purdey J., Mullin, Benjamin H., Brown, Suzanne J., Panicker, Vijay, Dudbridge, Frank, Brix, Thomas H., Hegedüs, Laszlo, Wilson, Scott G., Bell, Jordana T., Walsh, John P.

المصدر: Lafontaine , N , Shore , C J , Campbell , P J , Mullin , B H , Brown , S J , Panicker , V , Dudbridge , F , Brix , T H , Hegedüs , L , Wilson , S G , Bell , J T & Walsh , J P 2024 , ' Epigenome-wide Association Study Shows Differential DNA Methylation of MDC1, KLF9, and CUTA in Autoimmune Thyroid Disease ' , The Journal of clinical endocrinology and metabolism , vol. 109 , no. 4 , pp. 992-999 . https://doi.org/10.1210/clinem/dgad659Test

مصطلحات موضوعية: DNA methylation, epigenome, Graves disease, Hashimoto disease, Humans, Epigenesis, Genetic, Australia/epidemiology, Adaptor Proteins, Signal Transducing/genetics, Graves Disease/genetics, Hashimoto Disease/genetics, Cell Cycle Proteins/genetics, Kruppel-Like Transcription Factors/genetics

وصف الملف: application/pdf

العلاقة: https://portal.findresearcher.sdu.dk/da/publications/98da9a18-a695-4cbb-9c4f-0ec1046b64e8Test

الإتاحة: https://doi.org/10.1210/clinem/dgad659Test
https://portal.findresearcher.sdu.dk/da/publications/98da9a18-a695-4cbb-9c4f-0ec1046b64e8Test
https://findresearcher.sdu.dk/ws/files/258121548/dgad659.pdfTest

المساهمون: Won-Taek Oh, Yeon-Suk Yang, Jun Xie, Hong Ma, Jung-Min Kim, Kwang-Hwan Park, Daniel S Oh, Kyung-Hyun Park-Min, Matthew B Greenblatt, Guangping Gao, Jae-Hyuck Shim

مصطلحات موضوعية: Adaptor Proteins, Signal Transducing / genetics, Bone and Bones, Fractures, Bone* / genetics, Bone* / therapy, Genetic Therapy, Humans, Osteoporosis* / genetics, Osteoporosis* / therapy, bone fracture, critical-sized bone defect, osteoblast, osteoclast, osteoporosis, rAAV, schnurri-3, sclerostin, skeletal organoid

وصف الملف: application/pdf

العلاقة: MOLECULAR THERAPY; J02271; OAK-2023-00881; OAK-2023-00882; OAK-2023-00883; https://ir.ymlib.yonsei.ac.kr/handle/22282913/194157Test; T202301582; MOLECULAR THERAPY, Vol.31(2) : 435-453, 2023-02

الإتاحة: https://doi.org/10.1016/j.ymthe.2022.09.018Test
https://ir.ymlib.yonsei.ac.kr/handle/22282913/194157Test

المؤلفون: Rawat, Shalini, Chatterjee, Dhruba, Marwaha, Rituraj, Charak, Gitanjali, Kumar, Gaurav, Shaw, Shrestha, Khatter, Divya, Sharma, Sheetal, de Heus, Cecilia, Liv, Nalan, Klumperman, Judith, Tuli, Amit, Sharma, Mahak

المساهمون: Cancer, CMM Groep Klumperman, CMM Sectie Celbiologie, Brain, Regenerative Medicine and Stem Cells

مصطلحات موضوعية: ADP-Ribosylation Factors/genetics, Adaptor Proteins, Signal Transducing/genetics, Dynactin Complex/metabolism, Dyneins/metabolism, Endosomes/metabolism, HeLa Cells, Humans, Lysosomes/metabolism, Protein Transport, rab GTP-Binding Proteins/genetics, Journal Article, Research Support, Non-U.S. Gov't

وصف الملف: application/pdf

العلاقة: https://dspace.library.uu.nl/handle/1874/451260Test

الإتاحة: https://dspace.library.uu.nl/handle/1874/451260Test

المؤلفون: Mejbri, M., Renella, R., Candotti, F., Jaques, C., Holzinger, D., Hofer, M., Theodoropoulou, K.

المصدر: Genes, vol. 14, no. 8, pp. 1655

مصطلحات موضوعية: Female, Male, Humans, Tumor Necrosis Factor Inhibitors, Neutropenia, Diagnosis, Differential, Cytoskeletal Proteins, Adaptor Proteins, Signal Transducing/genetics, E250K, E257K, Hyperzincemia/Hypercalprotectinemia, PAMI syndrome, PSTPIP1 gene, autoinflammation, cytopenia

وصف الملف: application/pdf

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/37628706; info:eu-repo/semantics/altIdentifier/eissn/2073-4425; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_E4AFB0AA68AA0; https://serval.unil.ch/notice/serval:BIB_E4AFB0AA68AATest; urn:issn:2073-4425; https://serval.unil.ch/resource/serval:BIB_E4AFB0AA68AA.P001/REF.pdfTest; http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_E4AFB0AA68AA0Test

الإتاحة: https://doi.org/10.3390/genes14081655Test
https://serval.unil.ch/notice/serval:BIB_E4AFB0AA68AATest
https://serval.unil.ch/resource/serval:BIB_E4AFB0AA68AA.P001/REF.pdfTest
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_E4AFB0AA68AA0Test

المؤلفون: Mariano, V., Kanellopoulos, A.K., Ricci, C., Di Marino, D., Borrie, S.C., Dupraz, S., Bradke, F., Achsel, T., Legius, E., Odent, S., Billuart, P., Bienvenu, T., Bagni, C.

المصدر: Biological psychiatry, vol. 95, no. 2, pp. 161-174

مصطلحات موضوعية: Humans, Intellectual Disability/genetics, Actins/genetics, Actins/metabolism, Autism Spectrum Disorder/genetics, Autism Spectrum Disorder/metabolism, Polymerization, Adaptor Proteins, Signal Transducing/genetics, Fragile X Mental Retardation Protein/metabolism, Actin remodeling, Autism spectrum disorder, CYFIP1, Drosophila, Motor impairment, Social deficits

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/37704042; info:eu-repo/semantics/altIdentifier/eissn/1873-2402; https://serval.unil.ch/notice/serval:BIB_0125CF0AC9B9Test; urn:issn:0006-3223

الإتاحة: https://doi.org/10.1016/j.biopsych.2023.08.027Test
https://serval.unil.ch/notice/serval:BIB_0125CF0AC9B9Test

المؤلفون: Mariano, Vittoria, Kanellopoulos, Alexandros K., Billuart, Pierre, Bienvenu, Thierry, Bagni, Claudia, Ricci, Carlotta, Di Marino, Daniele, Borrie, Sarah C., Dupraz, Sebastian, Bradke, Frank, Achsel, Tilmann, Legius, Eric, Odent, Sylvie

المصدر: Biological psychiatry 95(2), 161 - 174 (2024). doi:10.1016/j.biopsych.2023.08.027

مصطلحات موضوعية: info:eu-repo/classification/ddc/610, Humans, Intellectual Disability: genetics, Actins: genetics, Actins: metabolism, Autism Spectrum Disorder: genetics, Autism Spectrum Disorder: metabolism, Polymerization, Adaptor Proteins, Signal Transducing: genetics, Fragile X Mental Retardation Protein: metabolism, Actins, Actin remodeling, Autism spectrum disorder, CYFIP1, Drosophila, Motor impairment, Social deficits, Signal Transducing, CYFIP1 protein, human, FMR1 protein, Fragile X Mental Retardation Protein

جغرافية الموضوع: DE

العلاقة: info:eu-repo/semantics/altIdentifier/issn/0006-3223; info:eu-repo/semantics/altIdentifier/pmid/pmid:37704042; info:eu-repo/semantics/altIdentifier/issn/1873-2402; https://pub.dzne.de/record/266342Test; https://pub.dzne.de/search?p=id:%22DZNE-2023-01127%22Test

الإتاحة: https://doi.org/10.1016/j.biopsych.2023.08.027Test
https://pub.dzne.de/record/266342Test
https://pub.dzne.de/search?p=id:%22DZNE-2023-01127%22Test

المؤلفون: Agnarsdóttir, Dagbjört, Sigurjónsdóttir, Vaka Kristín, Emilsdóttir, Arna Rut, Petersen, Erna, Sigfússon, Gunnlaugur, Rögnvaldsson, Ingólfur, Franzson, Leifur, Vernon, Hilary, Björnsson, Hans Tómas

المساهمون: Faculty of Medicine, Clinical Laboratory Services, Diagnostics and Blood Bank, Other departments

مصطلحات موضوعية: Lífefna- og sameindalíffræði, Barnalæknisfræði, Næringarfræðingar, Lyfjafræðingar, cblB, dilated cardiomyopathy, heart failure, MMAB, Cardiomyopathies/drug therapy, Humans, Female, Amino Acid Metabolism, Inborn Errors/drug therapy, Proto-Oncogene Proteins c-cbl/genetics, Mutation, Adaptor Proteins, Signal Transducing/genetics, Genetics (clinical), Genetics, Molecular Biology

وصف الملف: e1971

العلاقة: Molecular Genetics and Genomic Medicine; 10(7); http://www.scopus.com/inward/record.url?scp=85131915882&partnerID=8YFLogxKTest; Agnarsdóttir , D , Sigurjónsdóttir , V K , Emilsdóttir , A R , Petersen , E , Sigfússon , G , Rögnvaldsson , I , Franzson , L , Vernon , H & Björnsson , H T 2022 , ' Early cardiomyopathy without severe metabolic dysregulation in a patient with cblB-type methylmalonic acidemia ' , Molecular Genetics and Genomic Medicine , vol. 10 , no. 7 , e1971 , pp. e1971 . https://doi.org/10.1002/mgg3.1971Test; 5f007f0b-9be6-43fb-96cb-f85adf3731f7; 85131915882; unpaywall: 10.1002/mgg3.1971; https://hdl.handle.net/20.500.11815/3485Test

الإتاحة: https://doi.org/20.500.11815/3485Test
https://doi.org/10.1002/mgg3.1971Test
https://hdl.handle.net/20.500.11815/3485Test

المؤلفون: Ajore, Ram, Niroula, Abhishek, Pertesi, Maroulio, Cafaro, Caterina, Thodberg, Malte, Went, Molly, Bao, Erik L., Duran-Lozano, Laura, Lopez de Lapuente Portilla, Aitzkoa, Olafsdottir, Thorunn, Ugidos-Damboriena, Nerea, Magnusson, Olafur, Samur, Mehmet, Lareau, Caleb A., Halldorsson, Gisli H., Thorleifsson, Gudmar, Norddahl, Gudmundur L., Gunnarsdottir, Kristbjorg, Försti, Asta, Goldschmidt, Hartmut, Hemminki, Kari, van Rhee, Frits, Kimber, Scott, Sperling, Adam S., Kaiser, Martin, Anderson, Kenneth, Jonsdottir, Ingileif, Munshi, Nikhil, Rafnar, Thorunn, Waage, Anders, Weinhold, Niels, Thorsteinsdottir, Unnur, Sankaran, Vijay G., Stefansson, Kari, Houlston, Richard, Nilsson, Björn

المساهمون: Faculty of Industrial Engineering, Mechanical Engineering and Computer Science, Faculty of Medicine, Other departments, Health Sciences

مصطلحات موضوعية: Adaptor Proteins, Signal Transducing/genetics, Antineoplastic Combined Chemotherapy Protocols, B-Lymphocytes/immunology, Base Sequence, Cell Cycle Proteins/genetics, Chromatin/chemistry, Chromosomal Proteins, Non-Histone/genetics, DNA, Intergenic/genetics, Gene Expression Regulation, Neoplastic, Genetic Predisposition to Disease, Guanine Nucleotide Exchange Factors/genetics, Humans, Inheritance Patterns, Multiple Myeloma/drug therapy, Neoplasm Proteins/genetics, Plasma Cells/immunology, Polymorphism, Genetic, Primary Cell Culture, Quantitative Trait Loci, Repressor Proteins/genetics, Risk Assessment, Transcriptional Elongation Factors/genetics, Multidisciplinary, General Physics and Astronomy, General Chemistry

العلاقة: Nature Communications; 13(1); http://www.scopus.com/inward/record.url?scp=85122897580&partnerID=8YFLogxKTest; Ajore , R , Niroula , A , Pertesi , M , Cafaro , C , Thodberg , M , Went , M , Bao , E L , Duran-Lozano , L , Lopez de Lapuente Portilla , A , Olafsdottir , T , Ugidos-Damboriena , N , Magnusson , O , Samur , M , Lareau , C A , Halldorsson , G H , Thorleifsson , G , Norddahl , G L , Gunnarsdottir , K , Försti , A , Goldschmidt , H , Hemminki , K , van Rhee , F , Kimber , S , Sperling , A S , Kaiser , M , Anderson , K , Jonsdottir , I , Munshi , N , Rafnar , T , Waage , A , Weinhold , N , Thorsteinsdottir , U , Sankaran , V G , Stefansson , K , Houlston , R & Nilsson , B 2022 , ' Functional dissection of inherited non-coding variation influencing multiple myeloma risk ' , Nature Communications , vol. 13 , no. 1 , 151 , pp. 151 . https://doi.org/10.1038/s41467-021-27666-xTest; c6db1b45-564f-4e01-9670-71734456688c; 85122897580; unpaywall: 10.1038/s41467-021-27666-x; https://hdl.handle.net/20.500.11815/3987Test

الإتاحة: https://doi.org/20.500.11815/3987Test
https://doi.org/10.1038/s41467-021-27666-xTest
https://hdl.handle.net/20.500.11815/3987Test

المؤلفون: Rosenbohm, Angela, Pott, Hendrik, Tönnies, Holger, Seibler, Philip, Zschiedrich, Katja, Schaake, Susen, Westenberger, Ana, Zühlke, Christine, Depienne, Christel, Trinh, Joanne, Ludolph, Albert C, Klein, Christine, Thomsen, Mirja, Bahlo, Melanie, Lohmann, Katja, Rafehi, Haloom, Kaya, Sabine, Szymczak, Silke, Volk, Alexander E, Mueller, Kathrin, Silveira, Isabel, Weishaupt, Jochen H

المصدر: Movement disorders 37(12), 2427-2439 (2022). doi:10.1002/mds.29221

مصطلحات موضوعية: info:eu-repo/classification/ddc/610, Humans, Frontotemporal Dementia: diagnostic imaging, Frontotemporal Dementia: genetics, Amyotrophic Lateral Sclerosis: diagnostic imaging, Amyotrophic Lateral Sclerosis: genetics, C9orf72 Protein: genetics, DNA Repeat Expansion: genetics, Cerebellar Ataxia: genetics, Spinocerebellar Ataxias: genetics, Nerve Tissue Proteins: genetics, Adaptor Proteins, Signal Transducing: genetics, ALS, DAB1, SCA37, frontotemporal dementia, genome sequencing, linkage studies in genetics, nanopore sequencing, repeat expansion, spinocerebellar ataxia

جغرافية الموضوع: DE

العلاقة: info:eu-repo/semantics/altIdentifier/issn/1531-8257; info:eu-repo/semantics/altIdentifier/pmid/pmid:36148898; info:eu-repo/semantics/altIdentifier/issn/0885-3185; https://pub.dzne.de/record/165213Test; https://pub.dzne.de/search?p=id:%22DZNE-2022-01510%22Test

الإتاحة: https://doi.org/10.1002/mds.29221Test
https://pub.dzne.de/record/165213Test
https://pub.dzne.de/search?p=id:%22DZNE-2022-01510%22Test