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1Academic Journal
المؤلفون: Schack, Vivien R, Herlin, Morten K, Pedersen, Henrik, Jensen, J Magnus Bernth, Faerch, Mia, Bundgaard, Bettina, Jensen, Rasmus K, Jensen, Uffe B, Christensen, Rikke, Andersen, Gregers R, Thiel, Steffen, Höllsberg, Per
المصدر: Schack , V R , Herlin , M K , Pedersen , H , Jensen , J M B , Faerch , M , Bundgaard , B , Jensen , R K , Jensen , U B , Christensen , R , Andersen , G R , Thiel , S & Höllsberg , P 2022 , ' Novel homozygous CD46 variant with C-isoform expression affects C3b inactivation in atypical hemolytic uremic syndrome ' , European Journal of Immunology , vol. 52 , no. 10 , pp. 1610-1619 . https://doi.org/10.1002/eji.202249838
مصطلحات موضوعية: C3b, CD46 C-isoform, CD46 variant, atypical hemolytic syndrome, COMPLEMENT, PATHWAY, MCP, MUTATIONS, MEMBRANE COFACTOR PROTEIN, Humans, Protein Isoforms/genetics, Atypical Hemolytic Uremic Syndrome/genetics, Complement System Proteins, Mutation, Membrane Cofactor Protein/genetics, Child, Complement C3b
وصف الملف: application/pdf
الاتاحة: https://pure.au.dk/portal/da/publications/novel-homozygous-cd46-variant-with-cisoform-expression-affects-c3b-inactivation-in-atypical-hemolytic-uremic-syndrome(addeae54-c9c0-4b37-91c2-1edcb8bd390a).html
https://doi.org/10.1002/eji.202249838
https://pure.au.dk/ws/files/331188303/Eur_J_Immunol_2022_Schack_Novel_homozygous_CD46_variant_with_C_isoform_expression_affects_C3b_inactivation_in.pdf -
2Academic Journal
المؤلفون: Ville, S., Le Bot, S., Chapelet-Debout, A., Blancho, G., Fremeaux-Bacchi, V., Deltombe, C., Fakhouri, F.
المصدر: Kidney international, vol. 99, no. 1, pp. 267-268
مصطلحات موضوعية: Adult, Antibodies, Monoclonal, Humanized/therapeutic use, Atypical Hemolytic Uremic Syndrome/genetics, Atypical Hemolytic Uremic Syndrome/immunology, Atypical Hemolytic Uremic Syndrome/pathology, Atypical Hemolytic Uremic Syndrome/therapy, COVID-19/complications, COVID-19/diagnosis, COVID-19/immunology, COVID-19/virology, Complement Activation, Female, Humans, Membrane Cofactor Protein/genetics, Mutation, Recurrence, Renal Dialysis, SARS-CoV-2/immunology, SARS-CoV-2/isolation & purification, Severity of Illness Index
وصف الملف: application/pdf
Relation: info:eu-repo/semantics/altIdentifier/pmid/33188793; info:eu-repo/semantics/altIdentifier/eissn/1523-1755; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_4C409663DAAC8; https://serval.unil.ch/notice/serval:BIB_4C409663DAAC; https://serval.unil.ch/resource/serval:BIB_4C409663DAAC.P001/REF.pdf
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3Academic Journal
المؤلفون: Michielsen, Laura A., van Zuilen, Arjan D., Kardol-Hoefnagel, Tineke, Verhaar, Marianne C., Otten, Henny G.
المساهمون: MS Nefrologie, Circulatory Health, CTI Otten, Nefro Vasculaire Geneeskunde, Regenerative Medicine and Stem Cells, CDL Celdiagnostiek, Infection & Immunity
مصطلحات موضوعية: Acute rejection, Complement regulatory proteins, Genetic, Graft survival, Kidney donor, Promoter regions, CD59 Antigens/genetics, CD55 Antigens/genetics, Genetic Association Studies, Humans, Middle Aged, Genotype, Male, Tissue Donors/statistics & numerical data, Polymorphism, Kidney Transplantation/adverse effects, Graft Survival/genetics, Graft Rejection/genetics, Adult, Female, Membrane Cofactor Protein/genetics, Immunology and Allergy, Immunology, Research Support, Non-U.S. Gov't, Journal Article
وصف الملف: image/pdf
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4Academic Journal
المساهمون: So Y. Kim, Sujin Kang, Jae J. Song, Joo-Hang Kim, Kim, Joo Hang, Song, Jae Jin
مصطلحات موضوعية: Adenoviridae/genetics, Antibiotics, Antineoplastic/pharmacology, Autophagy, Cell Line, Tumor, Cell Survival, Cytomegalovirus/genetics, Genetic Vectors, Humans, Membrane Cofactor Protein/biosynthesis, Membrane Cofactor Protein/genetics, Oncolytic Virotherapy, Oncolytic Viruses/genetics, Promoter Regions, Genetic, Proto-Oncogene Proteins c-akt/metabolism, Proto-Oncogene Proteins c-bcl-2/metabolism, Recoverin/biosynthesis, Recoverin/genetics, Sirolimus/pharmacology, TOR Serine-Threonine Kinases/metabolism, Transduction, bcl-X Protein/metabolism
Relation: INTERNATIONAL JOURNAL OF ONCOLOGY; J01141; OAK-2013-00305; https://ir.ymlib.yonsei.ac.kr/handle/22282913/86423; http://www.spandidos-publications.com/ijo/42/4/1337; T201300429; INTERNATIONAL JOURNAL OF ONCOLOGY, Vol.42(4) : 1337-1348, 2013
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5Academic Journal
المؤلفون: Schaefer, F., Ardissino, G., Ariceta, G., Fakhouri, F., Scully, M., Isbel, N., Lommele, A., Kupelian, V., Gasteyger, C., Greenbaum, L. A., Johnson, S., Ogawa, M., Licht, C., Vande Walle, J., Fremeaux-Bacchi, V., H. U. S. Registry, HUS
المصدر: Kidney Int, vol. 94, no. 2, pp. 408-418
مصطلحات موضوعية: Adolescent, Adult, Age of Onset, Atypical Hemolytic Uremic Syndrome/genetics/*mortality/pathology, Child, Complement Factor H/genetics, Complement Factor I/genetics, Disease Progression, Female, Humans, Kidney Failure, Chronic/*epidemiology/pathology, Male, Membrane Cofactor Protein/genetics, Phenotype, Prospective Studies, Registries/statistics & numerical data, Retrospective Studies, Sex Factors, Young Adult, complement, hemolytic uremic syndrome, thrombotic microangiopathy
Relation: info:eu-repo/semantics/altIdentifier/pmid/29907460; info:eu-repo/semantics/altIdentifier/eissn/1523-1755; https://serval.unil.ch/notice/serval:BIB_4ECC5658F6DD
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6Academic Journal
المؤلفون: Fakhouri, F., Fila, M., Provot, F., Delmas, Y., Barbet, C., Chatelet, V., Rafat, C., Cailliez, M., Hogan, J., Servais, A., Karras, A., Makdassi, R., Louillet, F., Coindre, J. P., Rondeau, E., Loirat, C., Fremeaux-Bacchi, V.
المصدر: Clin J Am Soc Nephrol, vol. 12, no. 1, pp. 50-59
مصطلحات موضوعية: Adolescent, Adult, Aged, Antibodies, Monoclonal, Humanized/*therapeutic use, Atypical Hemolytic Uremic Syndrome/*drug therapy/*genetics/physiopathology, Child, Preschool, Complement Factor H/genetics, Complement System Proteins/*genetics, Female, Follow-Up Studies, Humans, Male, Membrane Cofactor Protein/genetics, Middle Aged, Recurrence, Withholding Treatment, Young Adult, Humanized, Antigens, CD46, Atypical Hemolytic Uremic Syndrome, Complement Factor H, Complement Inactivating Agents, Complement System Proteins, Hematologic Tests, Prospective Studies, Registries
Relation: info:eu-repo/semantics/altIdentifier/pmid/27799617; info:eu-repo/semantics/altIdentifier/eissn/1555-905X; https://serval.unil.ch/notice/serval:BIB_9BCB6E4C4EFE
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7
المؤلفون: Henny G. Otten, Laura A. Michielsen, Arjan D. van Zuilen, Tineke Kardol-Hoefnagel, Marianne C. Verhaar
المصدر: Frontiers in Immunology
Frontiers in Immunology, Vol 9 (2018)
Frontiers in Immunology, 9(MAY), 972. Frontiers Media S. A.مصطلحات موضوعية: 0301 basic medicine, Graft Rejection, Male, graft survival, 030230 surgery, acute rejection, 0302 clinical medicine, Genotype, Medicine, Immunology and Allergy, Promoter Regions, Genetic, Non-U.S. Gov't, Original Research, Kidney, CD55 Antigens, Research Support, Non-U.S. Gov't, Kidney Transplantation/adverse effects, Confounding, complement regulatory proteins, Middle Aged, Tissue Donors, Tissue Donors/statistics & numerical data, medicine.anatomical_structure, CD59 Antigens/genetics, Graft Survival/genetics, Female, lcsh:Immunologic diseases. Allergy, Adult, Endothelium, Immunology, CD59 Antigens, CD59, Research Support, Membrane Cofactor Protein, Promoter Regions, 03 medical and health sciences, Genetic, promoter regions, Journal Article, Humans, Allele, Polymorphism, kidney donor, Genetic Association Studies, Polymorphism, Genetic, business.industry, CD46, Promoter, Kidney Transplantation, Membrane Cofactor Protein/genetics, 030104 developmental biology, Graft Rejection/genetics, CD55 Antigens/genetics, lcsh:RC581-607, business
وصف الملف: image/pdf
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8Academic Journal
المصدر: Rev Med Interne, vol. 32, no. 4, pp. 232-40
مصطلحات موضوعية: Atypical Hemolytic Uremic Syndrome, Complement C3/genetics, Complement Factor B/genetics, Complement Factor H/genetics, Complement System Proteins/*genetics, Fibrinogen/genetics, Hemolytic-Uremic Syndrome/diagnosis/*genetics/therapy, Humans, Immunologic Factors/*genetics, Membrane Cofactor Protein/genetics, Mutation, Plasma Exchange, Risk Factors, Treatment Outcome
Relation: info:eu-repo/semantics/altIdentifier/pmid/21376430; info:eu-repo/semantics/altIdentifier/eissn/1768-3122; https://serval.unil.ch/notice/serval:BIB_1F62F4C3A2CF
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9Academic Journal
المؤلفون: Fremeaux-Bacchi, V., Fakhouri, F., Loirat, C.
المصدر: Rev Prat, vol. 58, no. 19, pp. 2093-6
مصطلحات موضوعية: Genetic Predisposition to Disease, Hemolytic-Uremic Syndrome/*genetics/physiopathology, Humans, Membrane Cofactor Protein/genetics
Relation: info:eu-repo/semantics/altIdentifier/pmid/19213534; info:eu-repo/semantics/altIdentifier/pissn/0035-2640; https://serval.unil.ch/notice/serval:BIB_10AFC61417A5
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10Academic Journal
المؤلفون: Le Quintrec, M., Lionet, A., Kamar, N., Karras, A., Barbier, S., Buchler, M., Fakhouri, F., Provost, F., Fridman, W. H., Thervet, E., Legendre, C., Zuber, J., Fremeaux-Bacchi, V.
المصدر: Am J Transplant, vol. 8, no. 8, pp. 1694-701
مصطلحات موضوعية: Adult, Complement Factor H/genetics, Complement Factor I/*genetics, Female, Humans, Kidney/*blood supply, Kidney Transplantation/*adverse effects, Male, Membrane Cofactor Protein/*genetics, Microcirculation, Middle Aged, Mutation, Retrospective Studies, Risk Factors, Thrombosis
Relation: info:eu-repo/semantics/altIdentifier/pmid/18557729; info:eu-repo/semantics/altIdentifier/eissn/1600-6143; https://serval.unil.ch/notice/serval:BIB_5733001D805A
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11Academic Journal
المؤلفون: Fakhouri, F., Jablonski, M., Lepercq, J., Blouin, J., Benachi, A., Hourmant, M., Pirson, Y., Durrbach, A., Grunfeld, J. P., Knebelmann, B., Fremeaux-Bacchi, V.
المصدر: Blood, vol. 112, no. 12, pp. 4542-5
مصطلحات موضوعية: Adult, Complement Factor H/*genetics, Complement System Proteins/genetics, DNA Mutational Analysis, Female, Fibrinogen/*genetics, Genetic Predisposition to Disease, Gestational Age, HELLP Syndrome/*genetics, Humans, Membrane Cofactor Protein/*genetics, Mutation, Missense, Pregnancy, Risk Factors, Young Adult
Relation: info:eu-repo/semantics/altIdentifier/pmid/18658028; info:eu-repo/semantics/altIdentifier/eissn/1528-0020; https://serval.unil.ch/notice/serval:BIB_FFAC6FA82A1D
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12Academic Journal
المؤلفون: Servais, A., Fremeaux-Bacchi, V., Lequintrec, M., Salomon, R., Blouin, J., Knebelmann, B., Grunfeld, J. P., Lesavre, P., Noel, L. H., Fakhouri, F.
المصدر: J Med Genet, vol. 44, no. 3, pp. 193-9
مصطلحات موضوعية: Adolescent, Adult, Aged, Child, Complement C3/*analysis, Complement C3 Nephritic Factor/analysis, Complement Factor H/analysis/genetics, Complement Pathway, Alternative/*genetics, Female, Fibrinogen/analysis/genetics, Genetic Predisposition to Disease, Glomerulonephritis/classification/*genetics/immunology/metabolism/pathology, Glomerulonephritis, Membranoproliferative/genetics/immunology/metabolism/pathology, Hemolytic-Uremic Syndrome/*genetics, Humans, Male, Membrane Cofactor Protein/genetics, Mesangial Cells/chemistry/ultrastructure, Middle Aged, Retrospective Studies, Risk Factors
Relation: info:eu-repo/semantics/altIdentifier/pmid/17018561; info:eu-repo/semantics/altIdentifier/eissn/1468-6244; https://serval.unil.ch/notice/serval:BIB_4559AD33FDD9