المؤلفون: Foronda, Hector, Fu, Yangxue, Covarrubias-Pinto, Adriana, Bocker, Hartmut T, González, Alexis, Seemann, Eric, Franzka, Patricia, Bock, Andrea, Bhaskara, Ramachandra M, Liebmann, Lutz, Hoffmann, Marina E, Katona, Istvan, Koch, Nicole, Weis, Joachim, Kurth, Ingo, Gleeson, Joseph G, Reggiori, Fulvio, Hummer, Gerhard, Kessels, Michael M, Qualmann, Britta, Mari, Muriel, Dikić, Ivan, Hübner, Christian A

المصدر: Foronda , H , Fu , Y , Covarrubias-Pinto , A , Bocker , H T , González , A , Seemann , E , Franzka , P , Bock , A , Bhaskara , R M , Liebmann , L , Hoffmann , M E , Katona , I , Koch , N , Weis , J , Kurth , I , Gleeson , J G , Reggiori , F , Hummer , G , Kessels , M M , Qualmann , B , Mari , M , Dikić , I & Hübner , C A 2023 , ....

مصطلحات موضوعية: Animals, Autophagy/genetics, Endoplasmic Reticulum Stress, Endoplasmic Reticulum/metabolism, Humans, Intracellular Membranes/metabolism, Intracellular Signaling Peptides and Proteins/deficiency, Membrane Proteins/deficiency, Mice, Sensory Receptor Cells/metabolism, Ubiquitinated Proteins/metabolism, Ubiquitination

العلاقة: https://pure.au.dk/portal/en/publications/bd290813-3ee1-4acb-b3a8-f617e96473c3Test

الإتاحة: https://doi.org/10.1038/s41586-023-06090-9Test
https://pure.au.dk/portal/en/publications/bd290813-3ee1-4acb-b3a8-f617e96473c3Test

المؤلفون: Vona, Barbara, Mazaheri, Neda, Lin, Sheng-Jia, Dunbar, Lucy, Maroofian, Reza, Azaiez, Hela, Booth, Kevin T., Vitry, Sandrine, Rad, Abolfazl, Rüschendorf, Franz, Varshney, Pratishtha, Fowler, Ben, Beetz, Christian, Alagramam, Kumar N., Murphy, David, Shariati, Gholamreza, Sedaghat, Alireza, Houlden, Henry, Petree, Cassidy, VijayKumar, Shruthi, Smith, Richard, Haaf, Thomas, EL-AMRAOUI, Aziz, Bowl, Michael, Varshney, Gaurav K., Galehdari, Hamid

المصدر: http://lobid.org/resources/99370671251406441Test#!, 140(6):915-931.

مصطلحات موضوعية: Chromosome Mapping [MeSH], Membrane Proteins/deficiency [MeSH], Molecular Medicine, Gene Expression [MeSH], Original Investigation, Zebrafish [MeSH], Male [MeSH], Base Sequence [MeSH], Tetraspanins/deficiency [MeSH], Hearing Loss, Sensorineural/genetics [MeSH], Point Mutation [MeSH], Human Genetics, Membrane Proteins/genetics [MeSH], Consanguinity [MeSH], Female [MeSH], Hair Cells, Auditory, Inner/metabolism [MeSH], Sensorineural/pathology [MeSH], Amino Acid Substitution [MeSH], Adult [MeSH], Humans [MeSH], Sensorineural/metabolism [MeSH], Whole Exome Sequencing [MeSH], Chromosomes, Human, Pair 4/chemistry [MeSH], Animals [MeSH], Mice [MeSH]

العلاقة: https://repository.publisso.de/resource/frl:6446844Test; https://doi.org/10.1007/s00439-020-02254-zTest; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8099798Test/

الإتاحة: https://doi.org/10.1007/s00439-020-02254-zTest
https://repository.publisso.de/resource/frl:6446844Test
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8099798Test/

المؤلفون: Li, Chengcheng, Vargas-Franco, Dorianmarie, Saha, Madhurima, Davis, Rachel M, Manko, Kelsey A, Draper, Isabelle, Pacak, Christina A, Kang, Peter B

المصدر: Faculty Publications

مصطلحات موضوعية: MEGF10 myopathy, satellite cells, skeletal muscle regeneration, Animals, Cell Movement (genetics), Cell Proliferation (genetics), Disease Models, Animal, Humans, Loss of Function Mutation, Membrane Proteins (deficiency, genetics), Mice, Knockout, Muscle Fibers, Skeletal (cytology, pathology), Muscular Diseases (genetics, Regeneration (genetics), Skeletal Muscle (pathology), Public Health Education and Promotion

وصف الملف: application/pdf

العلاقة: https://scholarcommons.sc.edu/sph_health_promotion_education_behavior_facpub/352Test; https://scholarcommons.sc.edu/context/sph_health_promotion_education_behavior_facpub/article/1353/viewcontent/Megf10_deficiency_impairs_skeletal_muscle_stem_cell_migration_and_muscle_regeneration.pdfTest

الإتاحة: https://doi.org/10.1002/2211-5463.13031Test;
https://doi.org/10.1002/2211-5463.13031Test
https://scholarcommons.sc.edu/sph_health_promotion_education_behavior_facpub/352Test
https://scholarcommons.sc.edu/context/sph_health_promotion_education_behavior_facpub/article/1353/viewcontent/Megf10_deficiency_impairs_skeletal_muscle_stem_cell_migration_and_muscle_regeneration.pdfTest

المؤلفون: Hector Foronda, Yangxue Fu, Adriana Covarrubias-Pinto, Hartmut T. Bocker, Alexis González, Eric Seemann, Patricia Franzka, Andrea Bock, Ramachandra M. Bhaskara, Lutz Liebmann, Marina E. Hoffmann, Istvan Katona, Nicole Koch, Joachim Weis, Ingo Kurth, Joseph G. Gleeson, Fulvio Reggiori, Gerhard Hummer, Michael M. Kessels, Britta Qualmann, Muriel Mari, Ivan Dikić, Christian A. Hübner

المصدر: Nature
Foronda, H, Fu, Y, Covarrubias-Pinto, A, Bocker, H T, González, A, Seemann, E, Franzka, P, Bock, A, Bhaskara, R M, Liebmann, L, Hoffmann, M E, Katona, I, Koch, N, Weis, J, Kurth, I, Gleeson, J G, Reggiori, F, Hummer, G, Kessels, M M, Qualmann, B, Mari, M, Dikić, I & Hübner, C A 2023, ' Heteromeric clusters of ubiquitinated ER-shaping proteins drive ER-phagy ', Nature, vol. 618, no. 7964, pp. 402-410 . https://doi.org/10.1038/s41586-023-06090-9Test

مصطلحات موضوعية: Intracellular Membranes/metabolism, Mice, Sensory Receptor Cells/metabolism, Multidisciplinary, Membrane Proteins/deficiency, Ubiquitination, Animals, Humans, Endoplasmic Reticulum Stress, Intracellular Signaling Peptides and Proteins/deficiency, Ubiquitinated Proteins/metabolism, Endoplasmic Reticulum/metabolism, Autophagy/genetics

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::587ec4f4d78e10eb10e252a8fb732491Test
https://doi.org/10.1038/s41586-023-06090-9Test

المؤلفون: Fang, Renpeng, Haxaire, Coline, Otero, Miguel, Lessard, Samantha, Weskamp, Gisela, McIlwain, David R, Mak, Tak W, Lichtenthaler, Stefan F, Blobel, Carl P

المصدر: International journal of molecular sciences 21(22), 8732 - (2020). doi:10.3390/ijms21228732

مصطلحات موضوعية: info:eu-repo/classification/ddc/540, ADAM17 Protein: genetics, ADAM17 Protein: metabolism, Animals, Calcification, Physiologic: genetics, Carrier Proteins: genetics, Carrier Proteins: metabolism, Cell Communication, Cell Differentiation, Cell Proliferation, Chondrocytes: cytology, Chondrocytes: metabolism, Chondrogenesis: genetics, Collagen Type II: genetics, Collagen Type II: metabolism, ErbB Receptors: genetics, ErbB Receptors: metabolism, Gene Expression Regulation, Growth Plate: growth & development, Growth Plate: metabolism, Integrases: genetics, Integrases: metabolism, Membrane Proteins: deficiency, Membrane Proteins: genetics, Membrane Proteins: metabolism, Mice, Knockout, Osteogenesis: genetics, Signal Transduction

جغرافية الموضوع: DE

الوقت: 2

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/pmid:33227998; info:eu-repo/semantics/altIdentifier/issn/1422-0067; info:eu-repo/semantics/altIdentifier/issn/1661-6596; https://pub.dzne.de/record/154748Test; https://pub.dzne.de/search?p=id:%22DZNE-2021-00338%22Test

الإتاحة: https://doi.org/10.3390/ijms21228732Test
https://pub.dzne.de/record/154748Test
https://pub.dzne.de/search?p=id:%22DZNE-2021-00338%22Test

المؤلفون: Weyer, Kathrin, Andersen, Pia K, Schmidt, Kasper, Mollet, Geraldine, Antignac, Corinne, Birn, Henrik, Nielsen, Rikke, Christensen, Erik I

المصدر: Weyer , K , Andersen , P K , Schmidt , K , Mollet , G , Antignac , C , Birn , H , Nielsen , R & Christensen , E I 2018 , ' Abolishment of proximal tubule albumin endocytosis does not affect plasma albumin during nephrotic syndrome in mice ' , Kidney International , vol. 93 , no. 2 , pp. 335-342 . https://doi.org/10.1016/j.kint.2017.07.024Test

مصطلحات موضوعية: Albuminuria/blood, Animals, Creatinine/urine, Disease Models, Animal, Endocytosis, Female, Intracellular Signaling Peptides and Proteins/deficiency, Kidney Tubules, Proximal/metabolism, Liver/metabolism, Low Density Lipoprotein Receptor-Related Protein-2/deficiency, Membrane Proteins/deficiency, Mice, 129 Strain, Inbred C57BL, Knockout, Nephrotic Syndrome/blood, Receptors, Cell Surface/deficiency, Serum Albumin/metabolism

العلاقة: https://pure.au.dk/portal/en/publications/a6b9356f-3b41-4645-83e2-0ecc9ba1525aTest

الإتاحة: https://doi.org/10.1016/j.kint.2017.07.024Test
https://pure.au.dk/portal/en/publications/a6b9356f-3b41-4645-83e2-0ecc9ba1525aTest

المساهمون: College of Medicine, Dept. of Life Science, Wook-Bin Lee, Ji-Jing Yan, Ji-Seon Kang, Lark Kyun Kim, Young-Joon Kim, Kim, Lark Kyun

مصطلحات موضوعية: Animals, Escherichia coli Infections/immunology, Escherichia coli Infections/microbiology, Hydrogen-Ion Concentration, Immunity, Innate, Lectins, C-Type/deficiency, C-Type/genetics, C-Type/immunology, Macrophages/immunology, Macrophages/metabolism, Macrophages/microbiology, Membrane Proteins/deficiency, Membrane Proteins/genetics, Membrane Proteins/immunology, Mice, Inbred C57BL, Knockout, Peritonitis/immunology, Peritonitis/microbiology, Phagocytosis, Phagosomes/immunology, Phagosomes/metabolism, Phagosomes/microbiology, Reactive Oxygen Species/metabolism, Sepsis/immunology, Sepsis/microbiology, Bacterial killing, E. coli-induced peritonitis

العلاقة: BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS; J00281; OAK-2017-06212; https://ir.ymlib.yonsei.ac.kr/handle/22282913/161224Test; https://www.sciencedirect.com/science/article/pii/S0006291X17319800Test; T201704309; BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, Vol.493(4) : 1491-1497, 2017

الإتاحة: https://doi.org/10.1016/j.bbrc.2017.10.018Test
https://ir.ymlib.yonsei.ac.kr/handle/22282913/161224Test
https://www.sciencedirect.com/science/article/pii/S0006291X17319800Test

المؤلفون: Rodenas-Cuadrado, Pedro, Pietrafusa, Nicola, Francavilla, Teresa, La Neve, Angela, Striano, Pasquale, Vernes, Sonja C

المصدر: Rodenas-Cuadrado , P , Pietrafusa , N , Francavilla , T , La Neve , A , Striano , P & Vernes , S C 2016 , ' Characterisation of CASPR2 deficiency disorder - a syndrome involving autism, epilepsy and language impairment ' , BMC Medical Genetics , vol. 17 , 8 . https://doi.org/10.1186/s12881-016-0272-8Test

مصطلحات موضوعية: Autistic disorder/genetics, Child, preschool, Epilepsy/genetics, Female, Gene deletion, Heterozygote, Humans, Infant, Intellectual disability/genetics, Language disorders/genetics, Membrane proteins/deficiency, Mutation, Nerve tissue proteins/deficiency, Pedigree, Phenotype, Sequence analysis, DNA, Syndrome

وصف الملف: application/pdf

العلاقة: https://research-portal.st-andrews.ac.uk/en/researchoutput/characterisation-of-caspr2Test-deficiency-disorder--a-syndrome-involving-autism-epilepsy-and-language-impairment(94f4e681-dffe-4c3f-806e-ee7d9dddba5d).html

الإتاحة: https://doi.org/10.1186/s12881-016-0272-8Test
https://research-portal.st-andrews.ac.uk/en/researchoutput/characterisation-of-caspr2Test-deficiency-disorder--a-syndrome-involving-autism-epilepsy-and-language-impairment(94f4e681-dffe-4c3f-806e-ee7d9dddba5d).html
https://research-repository.st-andrews.ac.uk/bitstream/10023/21700/1/Rodenas_Cuadrado_2016_BMC_Characterisation_CASPR2_CC.pdfTest

المؤلفون: Keppner, A., Andreasen, D., Mérillat, A.M., Bapst, J., Ansermet, C., Wang, Q., Maillard, M., Malsure, S., Nobile, A., Hummler, E.

المصدر: Plos One, vol. 10, no. 8, pp. e0135224

مصطلحات موضوعية: Absorption, Physicochemical, Animals, Biological Transport, Cell Membrane/metabolism, Epithelial Sodium Channels/metabolism, Gene Knockout Techniques, Homeostasis, Membrane Proteins/deficiency, Membrane Proteins/genetics, Mice, Serine Endopeptidases/deficiency, Serine Endopeptidases/genetics, Sodium/metabolism

وصف الملف: application/pdf

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/26309024; info:eu-repo/semantics/altIdentifier/eissn/1932-6203; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_0EC60EC08C029; https://serval.unil.ch/notice/serval:BIB_0EC60EC08C02Test; urn:issn:1932-6203; https://serval.unil.ch/resource/serval:BIB_0EC60EC08C02.P001/REF.pdfTest; http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_0EC60EC08C029Test

الإتاحة: https://doi.org/10.1371/journal.pone.0135224Test
https://serval.unil.ch/notice/serval:BIB_0EC60EC08C02Test
https://serval.unil.ch/resource/serval:BIB_0EC60EC08C02.P001/REF.pdfTest
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_0EC60EC08C029Test

المؤلفون: Rodenas-Cuadrado, Pedro, Pietrafusa, Nicola, Francavilla, Teresa, La Neve, Angela, Striano, Pasquale, Vernes, Sonja C

المساهمون: University of St Andrews. School of Biology

مصطلحات موضوعية: Autistic disorder/genetics, Child, preschool, Epilepsy/genetics, Female, Gene deletion, Heterozygote, Humans, Infant, Intellectual disability/genetics, Language disorders/genetics, Membrane proteins/deficiency, Mutation, Nerve tissue proteins/deficiency, Pedigree, Phenotype, Sequence analysis, DNA, Syndrome, QH301 Biology, QH426 Genetics, RC0321 Neuroscience. Biological psychiatry. Neuropsychiatry, QH301, QH426, RC0321

وصف الملف: application/pdf

العلاقة: BMC Medical Genetics; 272112579; 94f4e681-dffe-4c3f-806e-ee7d9dddba5d; 84956640101; Rodenas-Cuadrado , P , Pietrafusa , N , Francavilla , T , La Neve , A , Striano , P & Vernes , S C 2016 , ' Characterisation of CASPR2 deficiency disorder - a syndrome involving autism, epilepsy and language impairment ' , BMC Medical Genetics , vol. 17 , 8 . https://doi.org/10.1186/s12881-016-0272-8Test; PubMedCentral: PMC4739328; ORCID: /0000-0003-0305-4584/work/86538535; https://hdl.handle.net/10023/21700Test

الإتاحة: https://doi.org/10.1186/s12881-016-0272-8Test
https://hdl.handle.net/10023/21700Test