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المؤلفون: Rima Braukyliene, Ali Aldujeli, Ayman Haq, Laurynas Maciulevicius, Darija Jankauskaite, Martynas Jurenas, Ramunas Unikas, Vytautas Zabiela, Vaiva Lesauskaite, Sandrita Simonyte, Diana Zaliaduonytė
المصدر: International Journal of Environmental Research and Public Health; Volume 20; Issue 1; Pages: 12
مصطلحات موضوعية: Health, Toxicology and Mutagenesis, NR3C2 gene, acute myocardial infarction, mineralocorticoid receptor, rs5522, rs4635799, rs2070950, Public Health, Environmental and Occupational Health
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4bf8fba6f8adb59fee5d9a812bd04766Test
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المؤلفون: Dasom Park, Juyoung Lee, Woori Jang, Su Jin Kim
المصدر: Children
Children, Vol 8, Iss 1090, p 1090 (2021)مصطلحات موضوعية: medicine.medical_specialty, Microarray, hyponatremia, Case Report, Pediatrics, RJ1-570, mineralocorticoid receptors, Mineralocorticoid receptor, Polyuria, Internal medicine, Medicine, Exome sequencing, business.industry, Pseudohypoaldosteronism, nutritional and metabolic diseases, pseudohypoaldosteronism, dehydration, NR3C2 gene, medicine.disease, hyperkalemia, Endocrinology, Pediatrics, Perinatology and Child Health, Failure to thrive, medicine.symptom, neonate, business, Hyponatremia, Rare disease
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::40dcc7f7c00b37955a9748e5d95b3f70Test
http://europepmc.org/articles/PMC8700017Test -
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المؤلفون: Young Min Kim, Hae Il Cheong, Kim Chan Jong, In Su Choi, YangEunMi
المصدر: Childhood Kidney Diseases. 24:58-61
مصطلحات موضوعية: Genetics, Hyperkalemia, business.industry, medicine, General Earth and Planetary Sciences, NR3C2 Gene, Pseudohypoaldosteronism, medicine.symptom, Hyponatremia, medicine.disease, business, Novel mutation, General Environmental Science
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::1011e0bf797f4af8c4d719a75c56d27bTest
https://doi.org/10.3339/jkspn.2020.24.1.58Test -
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المؤلفون: Hans J. Grabe, Sandra Van der Auwera, Jan Terock, Katharina Wittfeld, Deborah Janowitz, Alexander Teumer
المصدر: Molecular Genetics & Genomic Medicine, Vol 8, Iss 9, Pp n/a-n/a (2020)
Molecular Genetics & Genomic Medicine
Molecular genetics & genomic medicine 8(9), e1345 (2020). doi:10.1002/mgg3.1345مصطلحات موضوعية: Adult, Male, 0301 basic medicine, medicine.medical_specialty, lcsh:QH426-470, rs2070951, 030105 genetics & heredity, Verbal learning, Polymorphism, Single Nucleotide, 03 medical and health sciences, genetics [Receptors, Mineralocorticoid], Memory, Internal medicine, Genotype, Genetics, Humans, Medicine, Cognitive Dysfunction, ddc:610, Cognitive decline, Allele, Molecular Biology, Genetics (clinical), Aged, mineralocorticoid receptor, Recall, business.industry, Haplotype, genetics [Cognitive Dysfunction], rs5522, Original Articles, NR3C2 gene, Middle Aged, cognitive decline, lcsh:Genetics, Receptors, Mineralocorticoid, 030104 developmental biology, Endocrinology, Haplotypes, Study of Health in Pomerania, Population study, Original Article, Female, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::142834cad776dffb658e00aa40052a81Test
https://doi.org/10.1002/mgg3.1345Test -
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المؤلفون: Seniye Targen, Ozlen Konu
المصدر: Aldosterone-Mineralocorticoid Receptor-Cell Biology to Translational Medicine
مصطلحات موضوعية: Mutation, 30405 Molecular Medicine, aldosterone, Molecular medicine, InformationSystems_INFORMATIONSTORAGEANDRETRIEVAL, Cancer, The Cancer Genome Atlas, Genomics, FOS: Basic medicine, Computational biology, Biology, medicine.disease, medicine.disease_cause, Genome, Transcriptome, transcriptomics, Mineralocorticoid receptor, medicine, genomics, NR3C2 Gene, Copy-number variation, prognosis, GeneralLiterature_REFERENCE(e.g.,dictionaries,encyclopedias,glossaries), mineralocorticoid receptor, epithelial cancers
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::09c3470d1dd881d0ca366a65a6fd5b05Test
http://www.intechopen.com/articles/show/title/investigating-the-role-of-mineralocorticoid-receptor-signaling-in-cancer-biology-in-the-genomic-eraTest -
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المؤلفون: Aicen Ji, Changqing Gao, Li Zhou, Xin Lü, Lili Qing, Shengjie Nie
المصدر: Behavioural Brain Research. 398:112980
مصطلحات موضوعية: Adult, Male, Hypothalamo-Hypophyseal System, Regulator, Violence, Biology, Young Adult, 03 medical and health sciences, Behavioral Neuroscience, Exon, 0302 clinical medicine, Mineralocorticoid receptor, Humans, NR3C2 Gene, Gene, 030304 developmental biology, 0303 health sciences, Prisoners, Methylation, Criminals, DNA Methylation, Middle Aged, Aggression, Receptors, Mineralocorticoid, CpG site, DNA methylation, Cancer research, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f53336241cf7112471dbcbf57e33b51fTest
https://doi.org/10.1016/j.bbr.2020.112980Test -
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المؤلفون: Federico Baronio, Antonio Balsamo, Soara Menabo, Wolfgang G. Sippell, Felix G. Riepe, Monia Gennari, Alessandro Cicognani
المساهمون: A.Balsamo, A.Cicognani, M.Gennari, W.G.Sippell, S.Menabò, F.Baronio, F.G.Riepe
المصدر: European Journal of Endocrinology. 156:249-256
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Hydrocortisone, Pseudohypoaldosteronism, Endocrinology, Diabetes and Metabolism, DNA Mutational Analysis, Population, Single-nucleotide polymorphism, Biology, medicine.disease_cause, Polymorphism, Single Nucleotide, Transactivation, Endocrinology, Gene Frequency, PSEUDOHYPOALDOSTERONISM TYPE 1, Internal medicine, medicine, Humans, NR3C2 Gene, SNP, Frameshift Mutation, education, Aldosterone, Gene, FUNCTIONAL STUDIES, Genetics, Mutation, education.field_of_study, HMR POLYMORPHISMS, General Medicine, NR3C2 GENE MUTATIONS, medicine.disease, Pedigree, Receptors, Mineralocorticoid, Italy, Codon, Nonsense, Child, Preschool, Protein Biosynthesis, Female
وصف الملف: STAMPA
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2148f645bf63f6521bf8feabcefdc0b8Test
https://doi.org/10.1530/eje.1.02330Test -
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المؤلفون: Yoon Kyoung Park, Hyo Kyoung Nam, Myung Hyun Nam, Young Jun Rhie, Hyun Ah Jeong, Kee Hyoung Lee, Yeong Sang Jung
المصدر: Annals of Pediatric Endocrinology & Metabolism
Annals of Pediatric Endocrinology & Metabolism, Vol 20, Iss 4, Pp 230-234 (2015)مصطلحات موضوعية: Epithelial sodium channel, medicine.medical_specialty, medicine.drug_class, Endocrinology, Diabetes and Metabolism, Pseudohypoaldosteronism, Mineralocorticoid receptors, Case Report, Mineralocorticoid receptor, Internal medicine, medicine, G alpha subunit, Kidney, business.industry, lcsh:RJ1-570, lcsh:Pediatrics, Metabolic acidosis, NR3C2 gene, medicine.disease, Endocrinology, medicine.anatomical_structure, Mineralocorticoid, Pediatrics, Perinatology and Child Health, Failure to thrive, Hyperkalemia, medicine.symptom, business, Hyponatremia
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::683513509e220115135a9c524810b341Test
https://pubmed.ncbi.nlm.nih.gov/26817011Test -
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المؤلفون: Paul-Martin Holterhus, Felix G. Riepe
المصدر: American Journal of Nephrology. 27:164-169
مصطلحات موضوعية: Male, Epithelial sodium channel, medicine.medical_specialty, Candidate gene, Pseudohypoaldosteronism, Protein Serine-Threonine Kinases, Gene mutation, Biology, Immediate-Early Proteins, Mineralocorticoid receptor, Internal medicine, medicine, Humans, NR3C2 Gene, Polymorphism, Genetic, Renal sodium reabsorption, urogenital system, Genetic heterogeneity, Sodium, Infant, Newborn, Infant, Sequence Analysis, DNA, medicine.disease, Endocrinology, Nephrology, Child, Preschool, Mutation, Female
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::69cab039c818f55b5f20fd8404d5064cTest
https://doi.org/10.1159/000100107Test -
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المؤلفون: Silvia Einaudi, Géza Fejes-Tóth, A Testa, Michael Peter, Joachim Grötzinger, Nils Krone, Johannes Finkeldei, Wolfgang G. Sippell, Beate Karges, Felix G. Riepe, Matthias Viemann, Luisa De Sanctis
المصدر: The Journal of Clinical Endocrinology & Metabolism. 91:4552-4561
مصطلحات موضوعية: Male, Models, Molecular, Transcriptional Activation, medicine.medical_specialty, Pseudohypoaldosteronism, Endocrinology, Diabetes and Metabolism, DNA Mutational Analysis, Molecular Sequence Data, Clinical Biochemistry, Mutant, Gene Expression, Context (language use), Biology, Transfection, medicine.disease_cause, Biochemistry, Protein Structure, Secondary, Frameshift mutation, Mice, Imaging, Three-Dimensional, Endocrinology, Mineralocorticoid receptor, Internal medicine, medicine, Animals, Humans, NR3C2 Gene, Tissue Distribution, Amino Acid Sequence, Child, Cells, Cultured, Genetics, Mutation, Sequence Homology, Amino Acid, Biochemistry (medical), medicine.disease, Phenotype, Pedigree, Protein Transport, Receptors, Mineralocorticoid, Child, Preschool, Female, Mutant Proteins, Rabbits
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8273b032ce0cd482f15c5affa49621dfTest
https://doi.org/10.1210/jc.2006-1161Test