المؤلفون: Dias, AF, Rodrigues, TA, Pedrosa, AG, Barros-Barbosa, A, Francisco, T, Azevedo, JE

المساهمون: Instituto de Investigação e Inovação em Saúde

مصطلحات موضوعية: Amino Acid Motifs, Amino Acid Substitution, Biological Transport, Endopeptidase K/metabolism, Gene Deletion, Humans, Hydrogen-Ion Concentration, Intracellular Membranes/metabolism, Membrane Proteins/chemistry, Membrane Proteins/genetics, Membrane Proteins/metabolism, Models, Biological, Mutagenesis, Site-Directed, Mutation, Missense, Peptide Fragments/chemistry, Peptide Fragments/genetics, Peptide Fragments/metabolism, Peroxisome-Targeting Signal 1 Receptor, Peroxisomes/metabolism, Protein Interaction Domains and Motifs, Protein Multimerization, Receptors, Cytoplasmic and Nuclear/chemistry, Cytoplasmic and Nuclear/genetics, Cytoplasmic and Nuclear/metabolism, Recombinant Fusion Proteins/chemistry, Recombinant Fusion Proteins/metabolism

وصف الملف: application/pdf

العلاقة: Journal of Biological Chemistry, vol.292(37), p. 15287-15300; http://www.jbc.org/content/292/37/15287.longTest; https://repositorio-aberto.up.pt/handle/10216/117912Test

الإتاحة: https://doi.org/10.1074/jbc.M117.805044Test
https://repositorio-aberto.up.pt/handle/10216/117912Test

المساهمون: College of Medicine, Dept. of Pharmacology, Jiyoon Kim, Shin Hye Noh, He Piao, Dong Hee Kim, Kuglae Kim, Jeong Seok Cha, Woo Young Chung, Hyun-Soo Cho, Joo Young Kim, Min Goo Lee, Kim, Dong Hee, Kim, Joo Young, Kim, Ji Yoon, Noh, Shin Hye, Lee, Min Goo

مصطلحات موضوعية: Carrier Proteins/genetics, Carrier Proteins/metabolism, Cystic Fibrosis Transmembrane Conductance Regulator/genetics, Cystic Fibrosis Transmembrane Conductance Regulator/secretion, Endoplasmic Reticulum/metabolism, Endoplasmic Reticulum Stress, Golgi Apparatus/metabolism, HEK293 Cells, HeLa Cells, Humans, Membrane Proteins/genetics, Membrane Proteins/metabolism, Mutation, Plasmids, Protein Multimerization, Protein Transport, Secretory Pathway, Transfection, CFTR, ER stress, ER-to-Golgi blockade, GRASP, unconventional secretion

العلاقة: TRAFFIC; J02747; OAK-2016-04895; https://ir.ymlib.yonsei.ac.kr/handle/22282913/151879Test; T201603221; TRAFFIC, Vol.17(7) : 733-753, 2016

الإتاحة: https://doi.org/10.1111/tra.12403Test
https://ir.ymlib.yonsei.ac.kr/handle/22282913/151879Test

المؤلفون: Royer-Bertrand, B., Torsello, M., Rimoldi, D., El Zaoui, I., Cisarova, K., Pescini-Gobert, R., Raynaud, F., Zografos, L., Schalenbourg, A., Speiser, D., Nicolas, M., Vallat, L., Klein, R., Leyvraz, S., Ciriello, G., Riggi, N., Moulin, A.P., Rivolta, C.

المصدر: American journal of human genetics, vol. 99, no. 5, pp. 1190-1198

مصطلحات موضوعية: Adult, Aged, 80 and over, Case-Control Studies, DNA Copy Number Variations, Eukaryotic Initiation Factor-1/genetics, Eukaryotic Initiation Factor-1/metabolism, Exons, Female, GTP-Binding Protein alpha Subunits/genetics, GTP-Binding Protein alpha Subunits/metabolism, GTP-Binding Protein alpha Subunits, Gq-G11/genetics, Gq-G11/metabolism, Genome-Wide Association Study, Humans, Male, Melanocytes/pathology, Melanoma/diagnosis, Melanoma/genetics, Membrane Proteins/genetics, Membrane Proteins/metabolism, Middle Aged, Mutation, Phosphoproteins/genetics, Phosphoproteins/metabolism, RNA Splicing Factors/genetics, RNA Splicing Factors/metabolism, Skin Neoplasms, Tumor Suppressor Proteins/genetics

وصف الملف: application/pdf

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/27745836; info:eu-repo/semantics/altIdentifier/eissn/1537-6605; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_035A22A1A6AE3; https://serval.unil.ch/notice/serval:BIB_035A22A1A6AETest; urn:issn:0002-9297; https://serval.unil.ch/resource/serval:BIB_035A22A1A6AE.P001/REF.pdfTest; http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_035A22A1A6AE3Test

الإتاحة: https://doi.org/10.1016/j.ajhg.2016.09.008Test
https://serval.unil.ch/notice/serval:BIB_035A22A1A6AETest
https://serval.unil.ch/resource/serval:BIB_035A22A1A6AE.P001/REF.pdfTest
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_035A22A1A6AE3Test

المساهمون: Lwaki Ebarasi, Shazia Ashraf, Arindam Majumdar, Friedhelm Hildebrandt, Moin A. Saleem, Shawn Levy, Erkin Serdaroglu, Ismail Dursun, Michael A. Simpson, Ania Koziell, Humphrey Fang, Virginia Vega-Warner, Werner Pabst, Carolin E. Sadowski, Svjetlana Lovric, Hugh J. McCarthy, Heon Yung Gee, Agnieszka Bierzynska, Gee, Heon Yung

المصدر: T201510007.pdf

مصطلحات موضوعية: Amino Acid Sequence, Animals, Carrier Proteins/genetics, Carrier Proteins/metabolism, Child, Preschool, Chromosome Mapping, Exome, Genes, Recessive, Homozygote, Humans, Infant, Kidney Failure, Chronic/etiology, Chronic/genetics, Membrane Proteins/genetics, Membrane Proteins/metabolism, Molecular Sequence Data, Mutation, Nephrotic Syndrome/complications, Nephrotic Syndrome/genetics, Podocytes, Rats, Zebrafish/genetics

وصف الملف: 153~161

العلاقة: AMERICAN JOURNAL OF HUMAN GENETICS; J00086; OAK-2015-02820; https://ir.ymlib.yonsei.ac.kr/handle/22282913/141800Test; T201504422; AMERICAN JOURNAL OF HUMAN GENETICS, Vol.96(1) : 153-161, 2015

الإتاحة: https://doi.org/10.1016/j.ajhg.2014.11.014Test
https://ir.ymlib.yonsei.ac.kr/handle/22282913/141800Test

المؤلفون: Martorell-Riera, A., Segarra-Mondejar, M., Muñoz, J.P., Ginet, V., Olloquequi, J., Pérez-Clausell, J., Palacín, M., Reina, M., Puyal, J., Zorzano, A., Soriano, F.X.

المصدر: Embo Journal, vol. 33, no. 20, pp. 2388-2407

مصطلحات موضوعية: Animals, Calcium/metabolism, Cell Death, Cell Line, Cells, Cultured, Down-Regulation, Dynamins/genetics, Dynamins/metabolism, Gene Expression Regulation, Homeostasis, Humans, MEF2 Transcription Factors/genetics, MEF2 Transcription Factors/metabolism, Male, Membrane Proteins/genetics, Membrane Proteins/metabolism, Mitochondria/physiology, Mitochondrial Dynamics/physiology, Mitochondrial Proteins/genetics, Mitochondrial Proteins/metabolism, Models, Animal, Mutation, Neurons/physiology, Rats, Sprague-Dawley, bcl-2-Associated X Protein/genetics, bcl-2-Associated X Protein/metabolism

وصف الملف: application/pdf

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/25147362; info:eu-repo/semantics/altIdentifier/eissn/1460-2075; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_833104A8E6764; https://serval.unil.ch/notice/serval:BIB_833104A8E676Test; urn:issn:0261-4189; https://serval.unil.ch/resource/serval:BIB_833104A8E676.P001/REF.pdfTest; http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_833104A8E6764Test

الإتاحة: https://doi.org/10.15252/embj.201488327Test
https://serval.unil.ch/notice/serval:BIB_833104A8E676Test
https://serval.unil.ch/resource/serval:BIB_833104A8E676.P001/REF.pdfTest
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_833104A8E6764Test

المؤلفون: Voisin, D., Nawrath, C., Kurdyukov, S., Franke, R.B., Reina-Pinto, J.J., Efremova, N., Will, I., Schreiber, L., Yephremov, A.

المصدر: PLoS genetics, vol. 5, no. 10, pp. e1000703

مصطلحات موضوعية: Arabidopsis/anatomy & histology, Arabidopsis/genetics, Calcium-Binding Proteins/genetics, Calcium-Binding Proteins/metabolism, Gene Expression Regulation, Plant, Genome-Wide Association Study, Intercellular Signaling Peptides and Proteins/genetics, Intercellular Signaling Peptides and Proteins/metabolism, Membrane Proteins/genetics, Membrane Proteins/metabolism, Microscopy, Electron, Transmission, Mutation, Oligonucleotide Array Sequence Analysis, Phenotype

وصف الملف: application/pdf

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/19876373; info:eu-repo/semantics/altIdentifier/pissn/1553-7404[electronic]; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_6A557D222C826; https://serval.unil.ch/notice/serval:BIB_6A557D222C82Test; https://serval.unil.ch/resource/serval:BIB_6A557D222C82.P001/REF.pdfTest; http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_6A557D222C826Test

الإتاحة: https://doi.org/10.1371/journal.pgen.1000703Test
https://serval.unil.ch/notice/serval:BIB_6A557D222C82Test
https://serval.unil.ch/resource/serval:BIB_6A557D222C82.P001/REF.pdfTest
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_6A557D222C826Test

المساهمون: Johanna Laurikkala, Johanna Pispa, Han Sung Jung, Pekka Nieminen, Marja Mikkola, Xiuping Wang, Ulpu Saarialho Kere, Juan Galceran, Rudolf Grosschedl, Irma Thesleff, Jung, Han Sung

المصدر: T200205839.pdf

مصطلحات موضوعية: Activins/genetics, Activins/metabolism, Animals, Cytoskeletal Proteins/genetics, Cytoskeletal Proteins/metabolism, DNA-Binding Proteins/genetics, DNA-Binding Proteins/metabolism, Ectoderm/metabolism, Ectodysplasins, Edar Receptor, Epidermal Cells, Fish Proteins/genetics, Fish Proteins/metabolism, Hair Follicle/embryology, Hair Follicle/metabolism, Inhibin-beta Subunits/genetics, Inhibin-beta Subunits/metabolism, Lymphoid Enhancer-Binding Factor 1, Membrane Proteins/genetics, Membrane Proteins/metabolism, Mesoderm/metabolism, Mice, Mutant Strains, Mutation, Organ Culture Techniques, Proto-Oncogene Proteins/genetics, Proto-Oncogene Proteins/metabolism, Signal Transduction, Trans-Activators, Transcription Factors/genetics

وصف الملف: 2541~2553

العلاقة: DEVELOPMENT; J00710; OAK-2002-00604; https://ir.ymlib.yonsei.ac.kr/handle/22282913/143904Test; T200205839; DEVELOPMENT, Vol.129(10) : 2541-2553, 2002

الإتاحة: https://ir.ymlib.yonsei.ac.kr/handle/22282913/143904Test

المؤلفون: Guipponi, M., Vuagniaux, G., Wattenhofer, M., Shibuya, K., Vazquez, M., Dougherty, L., Scamuffa, N., Guida, E., Okui, M., Rossier, C., Hancock, M., Buchet, K., Reymond, A., Hummler, E., Marzella, P.L., Kudoh, J., Shimizu, N., Scott, H.S., Antonarakis, S.E., Rossier, B.C.

المصدر: Human Molecular Genetics, vol. 11, no. 23, pp. 2829-2836

مصطلحات موضوعية: Animals, Binding Sites, Blotting, Western, DNA Mutational Analysis, DNA Primers/chemistry, Deafness/genetics, Deafness/metabolism, Endoplasmic Reticulum/metabolism, Epithelial Sodium Channel, Female, Genes, Recessive/genetics, Genotype, Humans, In Situ Hybridization, Male, Membrane Proteins/genetics, Membrane Proteins/metabolism, Mice, Mutation, Missense/genetics, Neoplasm Proteins/genetics, Neoplasm Proteins/metabolism, Oocytes/metabolism, Organ of Corti/metabolism, Protein Transport, RNA, Messenger/metabolism, Rabbits

وصف الملف: application/pdf

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/12393794; info:eu-repo/semantics/altIdentifier/pissn/0964-6906; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_353FDBCB75A52; https://serval.unil.ch/notice/serval:BIB_353FDBCB75A5Test; urn:issn:0964-6906; https://serval.unil.ch/resource/serval:BIB_353FDBCB75A5.P001/REF.pdfTest; http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_353FDBCB75A52Test

الإتاحة: https://doi.org/10.1093/hmg/11.23.2829Test
https://serval.unil.ch/notice/serval:BIB_353FDBCB75A5Test
https://serval.unil.ch/resource/serval:BIB_353FDBCB75A5.P001/REF.pdfTest
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_353FDBCB75A52Test

المؤلفون: Serge Leyvraz, Beryl Royer-Bertrand, Laureen Vallat, Leonidas Zografos, Carlo Rivolta, Giovanni Ciriello, Donata Rimoldi, Nicolo Riggi, Rosanna Pescini-Gobert, Ikram El Zaoui, Ann Schalenbourg, Alexandre Moulin, Matteo Torsello, Robert J. Klein, Franck Raynaud, Daniel E. Speiser, Katarina Cisarova, Michael Nicolas

المصدر: American journal of human genetics
American journal of human genetics, vol. 99, no. 5, pp. 1190-1198

مصطلحات موضوعية: Adult, Male, Uveal Neoplasms, Aged, Aged, 80 and over, Case-Control Studies, DNA Copy Number Variations, Eukaryotic Initiation Factor-1/genetics, Eukaryotic Initiation Factor-1/metabolism, Exons, Female, GTP-Binding Protein alpha Subunits/genetics, GTP-Binding Protein alpha Subunits/metabolism, GTP-Binding Protein alpha Subunits, Gq-G11/genetics, GTP-Binding Protein alpha Subunits, Gq-G11/metabolism, Genome-Wide Association Study, Humans, Melanocytes/pathology, Melanoma/diagnosis, Melanoma/genetics, Membrane Proteins/genetics, Membrane Proteins/metabolism, Middle Aged, Mutation, Phosphoproteins/genetics, Phosphoproteins/metabolism, RNA Splicing Factors/genetics, RNA Splicing Factors/metabolism, Skin Neoplasms, Tumor Suppressor Proteins/genetics, Tumor Suppressor Proteins/metabolism, Tumor Suppressor p53-Binding Protein 1/genetics, Tumor Suppressor p53-Binding Protein 1/metabolism, Ubiquitin Thiolesterase/genetics, Ubiquitin Thiolesterase/metabolism, Ubiquitin-Protein Ligases/genetics, Ubiquitin-Protein Ligases/metabolism, Uveal Neoplasms/diagnosis, Uveal Neoplasms/genetics, 0301 basic medicine, medicine.medical_specialty, Ubiquitin-Protein Ligases, Eukaryotic Initiation Factor-1, Uveal Neoplasm, Biology, medicine.disease_cause, 03 medical and health sciences, Report, Molecular genetics, Genetics, medicine, Melanoma, Genetics (clinical), Whole genome sequencing, GNA11, Tumor Suppressor Proteins, Membrane Proteins, Phosphoproteins, medicine.disease, GTP-Binding Protein alpha Subunits, 3. Good health, 030104 developmental biology, Cutaneous melanoma, GTP-Binding Protein alpha Subunits, Gq-G11, Melanocytes, RNA Splicing Factors, Tumor Suppressor p53-Binding Protein 1, Ubiquitin Thiolesterase, GNAQ

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::230ee35aae2441c8bc1433362a5e57d4Test

المؤلفون: Tony A. Rodrigues, Aurora Barros-Barbosa, Ana G. Pedrosa, Jorge E. Azevedo, Ana F. Dias, Tânia Francisco

المساهمون: Instituto de Investigação e Inovação em Saúde

المصدر: Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP

مصطلحات موضوعية: 0301 basic medicine, Intracellular Membranes/metabolism, Peptide Fragments/metabolism, Peroxisome-Targeting Signal 1 Receptor, Receptors, Cytoplasmic and Nuclear/genetics, Amino Acid Motifs, Receptors, Cytoplasmic and Nuclear, Recombinant Proteins/chemistry, medicine.disease_cause, Biochemistry, Repressor Proteins/chemistry, Protein targeting, Lipid bilayer, Recombinant Proteins/metabolism, biology, Chemistry, Peroxisome, Recombinant Fusion Proteins/chemistry, Hydrogen-Ion Concentration, Translocon, Receptors, Cytoplasmic and Nuclear/metabolism, Recombinant Proteins, Recombinant Fusion Proteins/metabolism, Endopeptidase K, Receptor recycling, Peptide Fragments/chemistry, Recombinant Fusion Proteins, Mutation, Missense, Receptors, Cytoplasmic and Nuclear/chemistry, Models, Biological, 03 medical and health sciences, medicine, Peroxisomes, Humans, Protein Interaction Domains and Motifs, Membrane Proteins/genetics, Peptide Fragments/genetics, Molecular Biology, Repressor Proteins/genetics, Peroxisomal matrix, Peroxisomes/metabolism, Repressor Proteins/metabolism, Membrane Proteins/chemistry, Membrane Proteins, Biological Transport, Cell Biology, Intracellular Membranes, Proteinase K, Peptide Fragments, Repressor Proteins, Cytosol, 030104 developmental biology, Amino Acid Substitution, Solubility, Mutation, biology.protein, Biophysics, Mutagenesis, Site-Directed, Membrane Proteins/metabolism, Protein Multimerization, Gene Deletion, Endopeptidase K/metabolism

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9f48b33e77a0947decee710e624b6ca2Test
https://europepmc.org/articles/PMC5602389Test/