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1دورية أكاديمية
المؤلفون: Efthymiadou, A., Gautschi, I., van Bemmelen, M.X., Sertedaki, A., Giannakopoulos, A., Chrousos, G., Schild, L., Chrysis, D.
المصدر: American journal of physiology. Endocrinology and metabolism, vol. 325, no. 1, pp. E1-E9
مصطلحات موضوعية: Humans, Pseudohypoaldosteronism/genetics, Pseudohypoaldosteronism/metabolism, Epithelial Sodium Channels/genetics, Mutation, Missense, Phenotype, SCNN1A, pseudohypoaldosteronism type 1, recessive, transient
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/37134141; info:eu-repo/semantics/altIdentifier/eissn/1522-1555; https://serval.unil.ch/notice/serval:BIB_3BD1E0FEBF0FTest; urn:issn:0193-1849
الإتاحة: https://doi.org/10.1152/ajpendo.00332.2022Test
https://serval.unil.ch/notice/serval:BIB_3BD1E0FEBF0FTest -
2دورية أكاديمية
المؤلفون: Canonica, J., Sergi, C., Maillard, M., Klusonova, P., Odermatt, A., Koesters, R., Loffing-Cueni, D., Loffing, J., Rossier, B., Frateschi, S., Hummler, E.
المصدر: Pflugers Archiv : European journal of physiology, vol. 468, no. 5, pp. 895-908
مصطلحات موضوعية: Aldosterone/blood, Animals, Epithelial Cells/metabolism, Epithelial Sodium Channels/genetics, Epithelial Sodium Channels/metabolism, Gene Deletion, Mice, Nephrons/metabolism, Phenotype, Potassium/blood, Potassium/urine, Pseudohypoaldosteronism/genetics, Pseudohypoaldosteronism/metabolism, Pseudohypoaldosteronism/pathology, Receptors, Glucocorticoid/genetics, Glucocorticoid/metabolism, Mineralocorticoid/deficiency, Mineralocorticoid/genetics, Mineralocorticoid/metabolism, Sodium/blood, Sodium/urine, Sodium Chloride Symporters/genetics, Sodium Chloride Symporters/metabolism, Weight Loss
وصف الملف: application/pdf
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/26762397; info:eu-repo/semantics/altIdentifier/eissn/1432-2013; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_2AB5D125C7E33; https://serval.unil.ch/notice/serval:BIB_2AB5D125C7E3Test; urn:issn:0031-6768; https://serval.unil.ch/resource/serval:BIB_2AB5D125C7E3.P001/REF.pdfTest; http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_2AB5D125C7E33Test
الإتاحة: https://doi.org/10.1007/s00424-015-1785-2Test
https://serval.unil.ch/notice/serval:BIB_2AB5D125C7E3Test
https://serval.unil.ch/resource/serval:BIB_2AB5D125C7E3.P001/REF.pdfTest
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_2AB5D125C7E33Test -
3دورية أكاديمية
المؤلفون: Poulsen, S.B., Praetorius, J., Damkier, H.H., Miller, L., Nelson, R.D., Hummler, E., Christensen, B.M.
المصدر: American Journal of Physiology. Renal Physiology, vol. 310, no. 4, pp. F300-F310
مصطلحات موضوعية: Aldosterone/metabolism, Animals, Body Weight, Colon/metabolism, Diet, Eating, Epithelial Sodium Channels/biosynthesis, Epithelial Sodium Channels/genetics, Female, Kidney Tubules, Collecting/metabolism, Collecting/pathology, Male, Mice, Knockout, Phosphorylation, Potassium/blood, Potassium/metabolism, Pseudohypoaldosteronism/genetics, Pseudohypoaldosteronism/metabolism, Sodium/blood, Sodium/metabolism, Solute Carrier Family 12, Member 1/biosynthesis, Member 1/genetics, Member 3/biosynthesis, Member 3/genetics
وصف الملف: application/pdf
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/26582762; info:eu-repo/semantics/altIdentifier/eissn/1522-1466; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_4DB30CE2E35B4; https://serval.unil.ch/notice/serval:BIB_4DB30CE2E35BTest; urn:issn:1522-1466; https://serval.unil.ch/resource/serval:BIB_4DB30CE2E35B.P001/REF.pdfTest; http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_4DB30CE2E35B4Test
الإتاحة: https://doi.org/10.1152/ajprenal.00258.2015Test
https://serval.unil.ch/notice/serval:BIB_4DB30CE2E35BTest
https://serval.unil.ch/resource/serval:BIB_4DB30CE2E35B.P001/REF.pdfTest
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_4DB30CE2E35B4Test -
4
المؤلفون: Raoul D. Nelson, Edith Hummler, Helle Hasager Damkier, Lance Edward Miller, Birgitte Mønster Christensen, Søren Brandt Poulsen, Jeppe Praetorius
المصدر: American Journal of Physiology. Renal Physiology, vol. 310, no. 4, pp. F300-F310
Poulsen, S B, Praetorius, J, Damkier, H H, Miller, L, Nelson, R D, Hummler, E & Christensen, B M 2016, ' Reducing αENaC expression in kidney connecting tubule induces pseudohypoaldosteronism type 1 symptoms during K+ loading ', American Journal of Physiology: Renal Physiology, vol. 310, no. 4, pp. F300-F310 . https://doi.org/10.1152/ajprenal.00258.2015Testمصطلحات موضوعية: 0301 basic medicine, Epithelial sodium channel, Male, medicine.medical_specialty, Physiology, Colon, Sodium, Pseudohypoaldosteronism, 030232 urology & nephrology, chemistry.chemical_element, Excretion, 03 medical and health sciences, chemistry.chemical_compound, Eating, Mice, 0302 clinical medicine, TheoryofComputation_ANALYSISOFALGORITHMSANDPROBLEMCOMPLEXITY, Internal medicine, medicine, Animals, Solute Carrier Family 12, Member 3, Kidney Tubules, Collecting, Phosphorylation, Epithelial Sodium Channels, Aldosterone, Solute Carrier Family 12, Member 1, Mice, Knockout, Chemistry, Body Weight, medicine.disease, Connecting tubule, Diet, 030104 developmental biology, Endocrinology, medicine.anatomical_structure, Potassium, Aldosterone/metabolism, Colon/metabolism, Epithelial Sodium Channels/biosynthesis, Epithelial Sodium Channels/genetics, Female, Kidney Tubules, Collecting/metabolism, Kidney Tubules, Collecting/pathology, Potassium/blood, Potassium/metabolism, Pseudohypoaldosteronism/genetics, Pseudohypoaldosteronism/metabolism, Sodium/blood, Sodium/metabolism, Solute Carrier Family 12, Member 1/biosynthesis, Solute Carrier Family 12, Member 1/genetics, Solute Carrier Family 12, Member 3/biosynthesis, Solute Carrier Family 12, Member 3/genetics, Cotransporter, Homeostasis
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::872b578644a2ebae89ef677482a31b51Test
https://serval.unil.ch/resource/serval:BIB_4DB30CE2E35B.P001/REF.pdfTest -
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المؤلفون: Dominique Loffing-Cueni, Johannes Loffing, Simona Frateschi, Bernard C. Rossier, Robert Koesters, Petra Klusonova, Marc Maillard, Edith Hummler, Chloé Sergi, Jérémie Canonica, Alex Odermatt
المساهمون: University of Zurich, Hummler, Edith
المصدر: Pflugers Archiv : European journal of physiology, vol. 468, no. 5, pp. 895-908
مصطلحات موضوعية: 0301 basic medicine, Epithelial sodium channel, medicine.medical_specialty, 10017 Institute of Anatomy, Hyperkalemia, Physiology, Pseudohypoaldosteronism, Clinical Biochemistry, 610 Medicine & health, Nephron, 1308 Clinical Biochemistry, 030204 cardiovascular system & hematology, Biology, 03 medical and health sciences, chemistry.chemical_compound, Mice, 2737 Physiology (medical), 0302 clinical medicine, Mineralocorticoid receptor, Receptors, Glucocorticoid, Physiology (medical), Internal medicine, Weight Loss, medicine, Animals, Epithelial Sodium Channels, Aldosterone, Renal sodium reabsorption, Sodium, Metabolic acidosis, Epithelial Cells, 1314 Physiology, Nephrons, medicine.disease, Sodium Chloride Symporters, Aldosterone/blood, Epithelial Cells/metabolism, Epithelial Sodium Channels/genetics, Epithelial Sodium Channels/metabolism, Gene Deletion, Nephrons/metabolism, Phenotype, Potassium/blood, Potassium/urine, Pseudohypoaldosteronism/genetics, Pseudohypoaldosteronism/metabolism, Pseudohypoaldosteronism/pathology, Receptors, Glucocorticoid/genetics, Receptors, Glucocorticoid/metabolism, Receptors, Mineralocorticoid/deficiency, Receptors, Mineralocorticoid/genetics, Receptors, Mineralocorticoid/metabolism, Sodium/blood, Sodium/urine, Sodium Chloride Symporters/genetics, Sodium Chloride Symporters/metabolism, 030104 developmental biology, Endocrinology, medicine.anatomical_structure, Receptors, Mineralocorticoid, chemistry, Potassium, 570 Life sciences, biology, medicine.symptom
وصف الملف: 130404.pdf - application/pdf; 5_26762397_Postprint.pdf - application/pdf; application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::724bc1e66a675014dd603413a737b34dTest
https://pubmed.ncbi.nlm.nih.gov/26762397Test -
6دورية أكاديمية
المؤلفون: Riepe, F.G., van Bemmelen, M.X., Cachat, F., Plendl, H., Gautschi, I., Krone, N., Holterhus, P.M., Theintz, G., Schild, L.
المصدر: Clinical Endocrinology, vol. 70, no. 2, pp. 252-258
مصطلحات موضوعية: Alleles, Chlorides/metabolism, Epithelial Sodium Channels/genetics, Female, Heterozygote, Humans, Infant, Newborn, Mutation, Missense/genetics, Pedigree, Phenotype, Pseudohypoaldosteronism/genetics, Pseudohypoaldosteronism/metabolism, Sodium/metabolism, Sweat/metabolism
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/18547339; info:eu-repo/semantics/altIdentifier/eissn/1365-2265; https://serval.unil.ch/notice/serval:BIB_E00A92BEEFB4Test; urn:issn:0300-0664
الإتاحة: https://doi.org/10.1111/j.1365-2265.2008.03314.xTest
https://serval.unil.ch/notice/serval:BIB_E00A92BEEFB4Test -
7دورية أكاديمية
المؤلفون: Pradervand, S., Vandewalle, A., Bens, M., Gautschi, I., Loffing, J., Hummler, E., Schild, L., Rossier, B. C.
المصدر: Journal of the American Society of Nephrology, vol. 14, no. 9, pp. 2219-28
مصطلحات موضوعية: Aldosterone/urine Animals Body Weight Culture Techniques Disease Models, Animal Electrolytes/urine Epithelium/metabolism Kidney Tubules, Collecting/*metabolism Mice Mice, Transgenic Pseudohypoaldosteronism/*metabolism RNA, Messenger/metabolism Sodium Channels/*metabolism Syndrome
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/12937297; info:eu-repo/semantics/altIdentifier/pissn/1046-6673; https://serval.unil.ch/notice/serval:BIB_97C3E12BE471Test
الإتاحة: https://doi.org/10.1097/01.ASN.000080204.65527.E6Test
https://serval.unil.ch/notice/serval:BIB_97C3E12BE471Test -
8دورية أكاديمية
المؤلفون: Gründer, S., Firsov, D., Chang, S.S., Jaeger, N.F., Gautschi, I., Schild, L., Lifton, R.P., Rossier, B.C.
المصدر: EMBO Journal, vol. 16, no. 5, pp. 899-907
مصطلحات موضوعية: Amiloride/pharmacology, Amino Acid Sequence, Animals, Conserved Sequence, Epithelial Sodium Channel, Glycine/chemistry, Humans, Ion Channel Gating, Molecular Sequence Data, Mutagenesis, Site-Directed, Mutation, Oocytes/metabolism, Patch-Clamp Techniques, Phosphorylation, Precipitin Tests, Protein Kinase C/metabolism, Pseudohypoaldosteronism/genetics, Pseudohypoaldosteronism/metabolism, Sequence Homology, Amino Acid, Sodium/metabolism, Sodium Channels/chemistry, Sodium Channels/genetics, Xenopus laevis
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/9118951; info:eu-repo/semantics/altIdentifier/pissn/0261-4189; https://serval.unil.ch/notice/serval:BIB_686292242460Test; urn:issn:0261-4189
الإتاحة: https://doi.org/10.1093/emboj/16.5.899Test
https://serval.unil.ch/notice/serval:BIB_686292242460Test -
9دورية أكاديمية
المؤلفون: Bonny, O., Rossier, B.C.
المصدر: Journal of the American Society of Nephrology, vol. 13, no. 9, pp. 2399-2414
مصطلحات موضوعية: Humans, Potassium/metabolism, Pseudohypoaldosteronism/genetics, Pseudohypoaldosteronism/metabolism, Sodium/metabolism
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/12191985; info:eu-repo/semantics/altIdentifier/pissn/1046-6673; https://serval.unil.ch/notice/serval:BIB_43E42A272976Test; urn:issn:1046-6673
الإتاحة: https://doi.org/10.1097/01.ASN.0000028641.59030.B2Test
https://serval.unil.ch/notice/serval:BIB_43E42A272976Test
النص الكامل