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1
المؤلفون: Franco Pagani, Susana Igreja, Giulia Pianigiani, Stefano Donega, Margarida D. Amaral, Malgorzata Rogalska
المصدر: Human Mutation. 41:2143-2154
مصطلحات موضوعية: Cystic Fibrosis, RNA Splicing, Cystic Fibrosis Transmembrane Conductance Regulator, Mutagenesis (molecular biology technique), Biology, Cystic fibrosis, 03 medical and health sciences, Exon, RNA, Small Nuclear, Genetics, medicine, Humans, Genetics (clinical), 030304 developmental biology, 0303 health sciences, 030305 genetics & heredity, Alternative splicing, RNA, Exons, medicine.disease, Molecular biology, Introns, Exon skipping, Mutation, RNA splicing, Nucleic Acid Conformation, HeLa Cells, Minigene
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2
المؤلفون: Giulia Pianigiani, Franco Pagani, Margarida D. Amaral, Malgorzata Rogalska, Susana Igreja, Stefano Donega
مصطلحات موضوعية: Exon, RNA splicing, medicine, RNA, Mutagenesis (molecular biology technique), Biology, medicine.disease, Molecular biology, Cystic fibrosis, Function (biology), Exon skipping, Minigene
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3
المصدر: Human Mutation. 37:209-215
مصطلحات موضوعية: 0301 basic medicine, Cystic Fibrosis, RNA Splicing, Molecular Sequence Data, Mutant, Cystic Fibrosis Transmembrane Conductance Regulator, 03 medical and health sciences, Exon, RNA Precursors, Genetics, Humans, Genetics (clinical), Base Sequence, biology, Alternative splicing, Intron, High-Throughput Nucleotide Sequencing, Exons, Genetic Therapy, Sequence Analysis, DNA, Oligonucleotides, Antisense, Molecular biology, Introns, Exon skipping, Cystic fibrosis transmembrane conductance regulator, HEK293 Cells, 030104 developmental biology, Mutation, RNA splicing, biology.protein, Minigene
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4
المؤلفون: Margarida D. Amaral, Anabela S. Ramalho, Teresa Casals, Sara Larriba, A. Alvarez, Susana Igreja, Laia Masvidal, Maria D. Ramos, Javier de Gracia
المصدر: European Journal of Human Genetics. 22:784-791
مصطلحات موضوعية: Adult, Male, Cystic Fibrosis, Genotype, RNA Splicing, Blotting, Western, DNA Mutational Analysis, Cystic Fibrosis Transmembrane Conductance Regulator, Gene Expression, Biology, medicine.disease_cause, Polymorphism, Single Nucleotide, Article, Exon, Gene expression, Genetics, medicine, Humans, Cells, Cultured, Genetics (clinical), Mutation, Reverse Transcriptase Polymerase Chain Reaction, Wild type, Molecular biology, Cystic fibrosis transmembrane conductance regulator, Nasal Mucosa, HEK293 Cells, Phenotype, RNA splicing, biology.protein, Female, Ex vivo, Minigene
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5
المؤلفون: Ashley B. Grossman, Mehtap Cakir, Miklós Góth, Susana Igreja, Maria Gueorguiev, Elizabeth Wlodek, Chrysanthia A. Leontiou, Blerina Kola, Dorota Dworakowska, Simona Grozinsky-Glasberg, Márta Korbonits, Natalia V. Prodromou, Mable Teng
المساهمون: Selçuk Üniversitesi
مصطلحات موضوعية: Adult, Male, MAPK/ERK pathway, Cancer Research, medicine.medical_specialty, Endocrinology, Diabetes and Metabolism, Blotting, Western, Protein Serine-Threonine Kinases, Biology, Immunoenzyme Techniques, Proto-Oncogene Proteins c-myc, Phosphatidylinositol 3-Kinases, Young Adult, Endocrinology, Cyclin D1, Internal medicine, medicine, Humans, Pituitary Neoplasms, RNA, Messenger, Phosphorylation, Protein kinase B, PI3K/AKT/mTOR pathway, Aged, Cell Proliferation, Mitogen-Activated Protein Kinase 3, Reverse Transcriptase Polymerase Chain Reaction, Cell growth, TOR Serine-Threonine Kinases, RPTOR, Intracellular Signaling Peptides and Proteins, Middle Aged, MAP Kinase Kinase Kinases, Oncology, Case-Control Studies, Cancer research, Female, raf Kinases, Signal transduction, Proto-Oncogene Proteins c-akt, Signal Transduction
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6
المؤلفون: Blerina Kola, Guilherme F. Nascimento, Jonas Guimarães, Walkíria Wingester Vilas-Boas, Ashley B. Grossman, Allan P. Anjos, Susana Igreja, Mirna Bastos Marques, Julia Thomas, Robson A.S. Santos, Márta Korbonits, Antônio Ribeiro-Oliveira
مصطلحات موضوعية: Male, medicine.medical_specialty, Angiotensin receptor, Physiology, Hypothalamus, Tetrazoles, AMP-Activated Protein Kinases, Renin-Angiotensin System, Behavioral Neuroscience, AMP-activated protein kinase, Stress, Physiological, Internal medicine, medicine, Animals, Rats, Wistar, Protein kinase A, Angiotensin II receptor type 1, biology, Endocrine and Autonomic Systems, Chemistry, Biphenyl Compounds, AMPK, Adenosine, Angiotensin II, Rats, Psychiatry and Mental health, Candesartan, Neuropsychology and Physiological Psychology, Endocrinology, biology.protein, Benzimidazoles, Angiotensin II Type 1 Receptor Blockers, medicine.drug
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7
المصدر: Clinical genetics. 91(3)
مصطلحات موضوعية: 0301 basic medicine, Male, Cystic Fibrosis, Genotype, Cystic Fibrosis Transmembrane Conductance Regulator, medicine.disease_cause, Cystic fibrosis, 03 medical and health sciences, Genetic Heterogeneity, 0302 clinical medicine, Genetics, medicine, Intronic Mutation, Humans, RNA, Messenger, Genotyping, Genetics (clinical), Exome sequencing, Mutation, biology, Genetic heterogeneity, High-Throughput Nucleotide Sequencing, Exons, medicine.disease, Cystic fibrosis transmembrane conductance regulator, Introns, 030104 developmental biology, Genetics, Population, 030228 respiratory system, biology.protein, Female, Brazil
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8
المؤلفون: Susana Igreja, Tristan R. McKay, Henriett Butz, Juliette M. K. M. Delhove, Harvinder Chahal, Giampaolo Trivellin, Vladimir Zivkovic, Márta Korbonits, Ashley B. Grossman, Attila Patócs
المصدر: American Journal of Physiology-Endocrinology and Metabolism. 303:E708-E719
مصطلحات موضوعية: Adenoma, medicine.medical_specialty, Physiology, Endocrinology, Diabetes and Metabolism, Biology, Neuroblastoma, 03 medical and health sciences, 0302 clinical medicine, Downregulation and upregulation, Pituitary adenoma, Cell Line, Tumor, Physiology (medical), Internal medicine, microRNA, medicine, Animals, Humans, Pituitary Neoplasms, RNA, Messenger, 3' Untranslated Regions, Cell Proliferation, Oligonucleotide Array Sequence Analysis, 030304 developmental biology, Regulation of gene expression, 0303 health sciences, Human Growth Hormone, Cell growth, Three prime untranslated region, Gene Expression Profiling, Intracellular Signaling Peptides and Proteins, RNA, medicine.disease, Recombinant Proteins, Neoplasm Proteins, Prolactin, Rats, Up-Regulation, Gene Expression Regulation, Neoplastic, Gene expression profiling, MicroRNAs, Endocrinology, Pituitary Gland, 030220 oncology & carcinogenesis, Mutant Proteins
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9
المؤلفون: Scott Akker, John A.H. Wass, Pia Burman, Maria Gueorguiev, Márta Korbonits, Susana Igreja, Richard Quinton, Svetozar Damjanovic, Vera Popovic, Ashley B. Grossman, Harvinder Chahal
المصدر: Clinical Endocrinology. 70:259-264
مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, endocrine system, Mutation, medicine.medical_specialty, endocrine system diseases, Tumor suppressor gene, Endocrinology, Diabetes and Metabolism, Biology, Gene mutation, medicine.disease_cause, medicine.disease, Germline, Endocrinology, Germline mutation, Internal medicine, medicine, Cancer research, MEN1, CDKN1B, Multiple endocrine neoplasia
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10
المؤلفون: Sharon Ajodha, Gregory Aubert, Csaba Fekete, Dalma Seboek, George Kunos, Judith Harvey-White, Blerina Kola, Daniel Feltrin, Beat Müller, Gábor Wittmann, Susana Igreja, Marco Boscaro, Francesca Lolli, Giorgio Arnaldi, François P. Pralong, Márta Korbonits, Gilberta Giacchetti, Ashley B. Grossman, Mirjam Christ-Crain
المصدر: FASEB J.
مصطلحات موضوعية: medicine.medical_specialty, media_common.quotation_subject, Hypothalamus, Adipose tissue, 030209 endocrinology & metabolism, AMP-Activated Protein Kinases, Protein Serine-Threonine Kinases, Biochemistry, Dexamethasone, 03 medical and health sciences, 0302 clinical medicine, AMP-activated protein kinase, Multienzyme Complexes, Internal medicine, Genetics, medicine, Animals, Humans, Protein kinase A, Molecular Biology, Cushing Syndrome, Glucocorticoids, Cells, Cultured, 030304 developmental biology, media_common, 0303 health sciences, biology, Liver cell, Myocardium, AMPK, Appetite, Metformin, 3. Good health, Rats, Endocrinology, Metabolism, Adipose Tissue, Liver, Organ Specificity, biology.protein, obesity insulin resistance lipid metabolism, Glucocorticoid, Biotechnology, medicine.drug
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11
المؤلفون: Olaf Ansorge, Eivind Carlsen, Niki Karavitaki, Stefan Schulz, Giampaolo Trivellin, J. Paul Chapple, Márta Korbonits, Ashley B. Grossman, Neda Alband, John A.H. Wass, Susana Igreja, Asil Tahir, Harvinder Chahal, Amelie Lupp, Robert C. Fowkes, Chrysanthia A. Leontiou, Susan Jordan
المصدر: The Journal of clinical endocrinology and metabolism. 97(8)
مصطلحات موضوعية: Adenoma, Small interfering RNA, medicine.medical_specialty, Endocrinology, Diabetes and Metabolism, Clinical Biochemistry, Cell Cycle Proteins, Biology, Lanreotide, Biochemistry, chemistry.chemical_compound, Endocrinology, Internal medicine, Cell Line, Tumor, Acromegaly, medicine, Somatostatin receptor 3, Somatostatin receptor 2, Animals, Humans, Somatostatin receptor 1, Receptors, Somatostatin, Somatostatin receptor, Tumor Suppressor Proteins, Biochemistry (medical), Intracellular Signaling Peptides and Proteins, medicine.disease, Rats, Somatostatin, chemistry, Growth Hormone-Secreting Pituitary Adenoma, Signal Transduction, Transcription Factors
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12
المؤلفون: Giampaolo Trivellin, Susana Igreja, Edwin Garcia, Harvinder S Chahal, Henriett Butz, Attila Patocs, Ashley B Grossman, Marta Korbonits
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13
المؤلفون: Susana, Igreja, Harvinder S, Chahal, Scott A, Akker, Maria, Gueorguiev, Vera, Popovic, Svetozar, Damjanovic, Pia, Burman, John A, Wass, Richard, Quinton, Ashley B, Grossman, Márta, Korbonits
المصدر: Clinical endocrinology. 70(2)
مصطلحات موضوعية: Adult, Male, Intracellular Signaling Peptides and Proteins, Middle Aged, United Kingdom, Cohort Studies, Proto-Oncogene Proteins, Multiple Endocrine Neoplasia Type 1, Humans, Female, Genetic Predisposition to Disease, Serbia, Cyclin-Dependent Kinase Inhibitor p27, Germ-Line Mutation, Aged
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14
المؤلفون: Sevda Hassan, Akira Matsuno, J. Paul Chapple, Katsuhiko Yoshimoto, John A.H. Wass, Mônica R. Gadelha, Antônio Ribeiro-Oliveira, Gordon Peters, Maria Gueorguiev, Lawrence A. Frohman, Richard N. Clayton, Scott Akker, Susana Igreja, Jessica A. Wray, Daniel M. Berney, Mâdâlina Musat, Harvinder Chahal, Márta Korbonits, Kuniki Eguchi, Marie Stolbrink, John P Monson, Chrysanthia A. Leontiou, Helen C. Christian, Jacqueline van der Spuy, Suzanne Jordan, Richard Quinton, Graeme B. Bolger, Takeo Iwata, Ashley B. Grossman, David Bishop-Bailey, Francesca Lolli, Vera Popovic, Daniel Flanagan, Julian R. E. Davis, Janice Rowe
مصطلحات موضوعية: Adenoma, Adult, Male, medicine.medical_specialty, Adolescent, Tumor suppressor gene, Endocrinology, Diabetes and Metabolism, Clinical Biochemistry, Context (language use), Biology, Transfection, medicine.disease_cause, Biochemistry, Endocrinology, Pituitary adenoma, Internal medicine, Acromegaly, Tumor Cells, Cultured, medicine, Humans, Pituitary Neoplasms, Genetic Testing, Child, Multiple endocrine neoplasia, Aged, Cell Proliferation, Regulation of gene expression, Human Growth Hormone, Biochemistry (medical), HEK 293 cells, Intracellular Signaling Peptides and Proteins, Proteins, Middle Aged, medicine.disease, Cyclic Nucleotide Phosphodiesterases, Type 4, Gene Expression Regulation, Neoplastic, Female, Carcinogenesis, Protein Binding
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15
المؤلفون: Ashley B. Grossman, C. Lennox, N. Alband, G.B. Bolger, A. Tahir, J.W. Cain, Giampaolo Trivellin, Susana Igreja, Harvinder Chahal, Márta Korbonits
المصدر: Growth Hormone & IGF Research. 20:S9
مصطلحات موضوعية: Epithelial sodium channel, medicine.medical_specialty, business.industry, medicine.drug_class, Endocrinology, Diabetes and Metabolism, medicine.medical_treatment, Furosemide, Loop diuretic, medicine.disease, Crossover study, Amiloride, Endocrinology, Bolus (medicine), Internal medicine, Acromegaly, Medicine, Diuretic, business, medicine.drug
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16
المؤلفون: Margarida D. Amaral, Anabela S. Ramalho, Teresa Casals, Susana Igreja
المصدر: Journal of Cystic Fibrosis. :S49
مصطلحات موضوعية: Pulmonary and Respiratory Medicine, business.industry, Pediatrics, Perinatology and Child Health, medicine, Cis effect, splice, Pediatrics, Perinatology, and Child Health, medicine.disease, business, Cystic fibrosis, Molecular biology