المؤلفون: Sinéad M McGlacken-Byrne, Jasmina Kallefullah Mohammad, Niamh Conlon, Diliara Gubaeva, Julie Siersbæk, Anders Jørgen Schou, Huseyin Demirbilek, Antonia Dastamani, Jayne A L Houghton, Klaus Brusgaard, Maria Melikyan, Henrik Christesen, Sarah E Flanagan, Nuala P Murphy, Pratik Shah

المصدر: McGlacken-Byrne, S M, Mohammad, J K, Conlon, N, Gubaeva, D, Siersbæk, J, Schou, A J, Demirbilek, H, Dastamani, A, Houghton, J A L, Brusgaard, K, Melikyan, M, Christesen, H, Flanagan, S E, Murphy, N P & Shah, P 2022, ' Clinical and genetic heterogeneity of HNF4A/HNF1A mutations in a multicentre paediatric cohort with hyperinsulinaemic hypoglycaemia ', European Journal of Endocrinology, vol. 186, no. 4, pp. 417-427 . https://doi.org/10.1530/EJE-21-0897

مصطلحات موضوعية: Male, Adolescent, Endocrinology, Diabetes and Metabolism, Cohort Studies, Genetic Heterogeneity, Endocrinology, Hyperinsulinism, Diabetes Mellitus, Type 1/genetics, Birth Weight, Humans, Hepatocyte Nuclear Factor 1-alpha, Hepatocyte Nuclear Factor 1-alpha/genetics, Child, Medical History Taking, Diazoxide/therapeutic use, Hyperinsulinism/drug therapy, Diazoxide, Infant, Newborn, Infant, General Medicine, Fanconi Syndrome, Hypoglycemia, Diabetes Mellitus, Type 1, Diabetes Mellitus, Type 2, Hepatocyte Nuclear Factor 4, Hepatocyte Nuclear Factor 4/genetics, Child, Preschool, Mutation, Diabetes Mellitus, Type 2/genetics, Hypoglycemia/drug therapy, Female, Fanconi Syndrome/genetics

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f6c633e75590c4bd7905fb8beb09f440
https://doi.org/10.1530/eje-21-0897

المؤلفون: Sonia Abdelhak, Henda Jamoussi, Melika Ben Ahmed, Mariem Gharbi, Haifa Jmel, Abdelmajid Abid, Federica Alberico, Om Kalthoum Sallem, Afaf Bahlous, Hamza Dallali, Rym Kefi, Tommaso Mazza, Serena Pezzilli, Sahar Elouej, Luana Mercuri, Yosra Ben Halima, Mariem Chargui, Sabrina Prudente, Meriem Hechmi, Vincenzo Trischitta

المساهمون: Laboratoire de Génomique Biomédicale et Oncogénétique - Biomedical Genomics and Oncogenetics Laboratory (LR11IPT05), Université de Tunis El Manar (UTM)-Institut Pasteur de Tunis, Réseau International des Instituts Pasteur (RIIP)-Réseau International des Instituts Pasteur (RIIP), Institut National des Sciences Appliquées et de Technologie - Carthage (INSAT Carthage), Istituto di Ricovero e Cura a Carattere Scientifico, Ospedale Casa Sollievo della Sofferenza [San Giovanni Rotondo] (IRCCS), Università degli Studi di Roma 'La Sapienza' = Sapienza University [Rome] (UNIROMA), CHU Fattouma Bourguiba [Monastir] (HFB), Aix-Marseille Université - Faculté de médecine (AMU MED), Aix Marseille Université (AMU), Faculté des Sciences de Bizerte [Université de Carthage], Université de Carthage - University of Carthage, Faculté de Médecine de Tunis, Université de Tunis El Manar (UTM), Laboratoire central de biologie médicale, Institut Pasteur de Tunis, Institut Pasteur de Tunis, Laboratoire de Transmission, Contrôle et Immunobiologie des Infections - Laboratory of Transmission, Control and Immunobiology of Infection (LR11IPT02), Institut National de Nutrition et de Technologie Alimentaire (Tunis) (INNTA), This work was supported by Institut Pasteur of Tunis (PCI-15) and the Tunisian Ministry of higher Education and Scientific Research (LR11 IPT05). This study was partly supported by the Italian Ministry of Health ('Ricerca Corrente 2015–2017' to S. Prudente)., We thank the patients, their parents and healthcare professionals who participated in this study. We also thank the CSS-Mendel Institute (Rome, Italy) for the collaboration and the provision of infrastructure for this research., Università degli Studi di Roma 'La Sapienza' = Sapienza University [Rome]

المصدر: Acta Diabetologica
Acta Diabetologica, 2019, 56 (5), pp.515-523. ⟨10.1007/s00592-018-01283-5⟩
Acta Diabetologica, Springer Verlag, 2019, 56 (5), pp.515-523. ⟨10.1007/s00592-018-01283-5⟩

مصطلحات موضوعية: Male, Endocrinology, Diabetes and Metabolism, [SDV]Life Sciences [q-bio], 030204 cardiovascular system & hematology, 0302 clinical medicine, Endocrinology, Hepatocyte Nuclear Factor 1-alpha, Frameshift Mutation, MESH: Heterozygote, Genetics, medicine.diagnostic_test, MESH: Genetic Testing, MESH: Frameshift Mutation, High-Throughput Nucleotide Sequencing, General Medicine, Targeted gene sequencing, 3. Good health, HNF1A, Pedigree, MESH: Diabetes Mellitus, Type 2/genetics, Phenotype, MODY, Genetic testing, Next-generation sequencing, Adult, Diabetes Mellitus, Type 2, Female, Genetic Testing, Heterozygote, Humans, Mutation, Tunisia, MESH: Tunisia, Prioritization, MESH: Mutation, MESH: Pedigree, 030209 endocrinology & metabolism, Biology, MESH: Phenotype, DNA sequencing, Maturity onset diabetes of the young, Frameshift mutation, 03 medical and health sciences, MESH: Diabetes Mellitus, Type 2/diagnosis, Internal Medicine, medicine, Gene, MESH: Hepatocyte Nuclear Factor 1-alpha/genetics, Monogenic Diabetes, MESH: Humans, MESH: Adult, medicine.disease, MESH: Male, MESH: Female, MESH: High-Throughput Nucleotide Sequencing, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a2168dd90519576e6dd8b4042df9e732
https://pubmed.ncbi.nlm.nih.gov/30656436

المؤلفون: Sonia Abdelhak, Imane Morjane, Hicham Charoute, Rachid Saile, Meryem Hechmi, Abdelhamid Barakat, Rym Kefi, Fouzia Lakbakbi el yaagoubi

المساهمون: Laboratoire de Génétique Moléculaire Humaine, Institut Pasteur du Maroc, Réseau International des Instituts Pasteur (RIIP)-Réseau International des Instituts Pasteur (RIIP), Faculté des Sciences Ben M'sik [Casablanca], Université Hassan II [Casablanca] (UH2MC), Laboratoire de Génomique Biomédicale et Oncogénétique - Biomedical Genomics and Oncogenetics Laboratory (LR11IPT05), Université de Tunis El Manar (UTM)-Institut Pasteur de Tunis, Faculté des Sciences Mathématiques, Physiques et Naturelles de Tunis (FST), Université de Tunis El Manar (UTM), This work was supported by Institut Pasteur du Maroc and a grant from the European Commission FP7 Integrated Project MEDIGENE (FP7-279171-1)., European Project: 279171,EC:FP7:HEALTH,FP7-HEALTH-2011-two-stage,MEDIGENE(2012)

المصدر: Diabetes & Metabolic Syndrome: Clinical Research & Reviews
Diabetes & Metabolic Syndrome: Clinical Research & Reviews, Elsevier, 2017, 11 (supplement 2), pp.S853-S857. ⟨10.1016/j.dsx.2017.07.005⟩

مصطلحات موضوعية: 0301 basic medicine, Male, Endocrinology, Diabetes and Metabolism, Physiology, MESH: Logistic Models, 030204 cardiovascular system & hematology, HNF1A, 0302 clinical medicine, MESH: Aged, 80 and over, Polymorphism (computer science), Haplotype, Hepatocyte Nuclear Factor 1-alpha, 030212 general & internal medicine, Aged, 80 and over, MESH: Aged, education.field_of_study, MESH: Middle Aged, MESH: Polymorphism, Single Nucleotide, MESH: Hepatocyte Nuclear Factor 1-alpha/genetics, General Medicine, Middle Aged, Metabolic syndrome, 3. Good health, MESH: Young Adult, Female, Cardiology and Cardiovascular Medicine, Adult, medicine.medical_specialty, Adolescent, Association (object-oriented programming), Population, Single-nucleotide polymorphism, Polymorphism, Single Nucleotide, Young Adult, 03 medical and health sciences, Internal medicine, Diabetes mellitus, Internal Medicine, medicine, Humans, Allele, Polymorphism, education, Aged, MESH: Adolescent, MESH: Humans, business.industry, MESH: Adult, MESH: Haplotypes, medicine.disease, MESH: Male, 030104 developmental biology, Endocrinology, Logistic Models, Haplotypes, business, MESH: Metabolic Syndrome/genetics, MESH: Female, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0a5d1a31a077bb89be84e99dae47aeea
https://hal.archives-ouvertes.fr/hal-01571303

المؤلفون: Anna Griego, Francesco Aulicino, Antonio del Sol, Aniello Cerrato, Maria Pia Cosma, Gökhan Ertaylan, Anchel de Jaime-Soguero, Frederic Lluis, Aravind Tallam

المساهمون: ten Berge, Derk, TwinCore, Zentrum für experimentelle und klinische Infektionsforschung GmbH, Feodor-Lynen-Str. 7, 30625 Hannover, Germany., RS: FSE MaCSBio, RS: FPN MaCSBio, Maastricht Centre for Systems Biology

المصدر: PLoS Genetics, Vol 13, Iss 3, p e1006682 (2017)
PLOS genetics (Online) 13 (2017). doi:10.1371/journal.pgen.1006682
info:cnr-pdr/source/autori:De Jaime-Soguero A.; Aulicino F.; Ertaylan G.; Griego A.; Cerrato A.; Tallam A.; del Sol A.; Cosma M.P.; Lluis F./titolo:Wnt%2FTcf1 pathway restricts embryonic stem cell cycle through activation of the Ink4%2FArf locus/doi:10.1371%2Fjournal.pgen.1006682/rivista:PLOS genetics (Online)/anno:2017/pagina_da:/pagina_a:/intervallo_pagine:/volume:13
PLoS Genetics
Recercat. Dipósit de la Recerca de Catalunya
instname
Plos Genetics, 13(3):e1006682. Public Library of Science
De Jaime-Soguero, A, Aulicino, F, Ertaylan, G, Griego, A, Cerrato, A, Tallam, A, Del Sol, A, Cosma, M P & Lluis, F 2017, ' Wnt/Tcf1 pathway restricts embryonic stem cell cycle through activation of the Ink4/Arf locus ', PLoS Genetics, vol. 13, no. 3, e1006682 . https://doi.org/10.1371/journal.pgen.1006682

مصطلحات موضوعية: 0301 basic medicine, Cancer Research, Somatic cell, medicine.medical_treatment, Gene Expression, BETA-CATENIN, Mice, Animal Cells, ENRICHMENT ANALYSIS, Mouse Embryonic Stem Cells/metabolism, TUMOR-SUPPRESSOR, Hepatocyte Nuclear Factor 1-alpha, Cell Cycle and Cell Division, Promoter Regions, Genetic, Induced pluripotent stem cell, Wnt Signaling Pathway, Cells, Cultured, Genetics (clinical), Staining, Genetics & Heredity, Reverse Transcriptase Polymerase Chain Reaction, Stem Cells, Cell Cycle, Wnt signaling pathway, Cell Staining, Mouse Embryonic Stem Cells, Stem-cell therapy, Cell cycle, Cyclin-Dependent Kinase Inhibitor p15/genetics, Cell staining, TRANSCRIPTION FACTORS, DIFFERENTIATION, Cell Processes, Gene Knockdown Techniques, TCF3, Cell cycle inhibitors, Cellular Types, Life Sciences & Biomedicine, Research Article, G1 phase, Cell division, lcsh:QH426-470, Cell Potency, Blotting, Western, DNA transcription, Mice, Transgenic, Wnt/Tcf1, stem cell, Ink4/Arf, Biology, Research and Analysis Methods, PLURIPOTENCY, Cell Proliferation/genetics, 03 medical and health sciences, Cyclin-Dependent Kinase Inhibitor p16/genetics, Genetics, medicine, Animals, Humans, Cell Cycle/genetics, Gene Regulation, Wnt Signaling Pathway/genetics, Hepatocyte Nuclear Factor 1-alpha/genetics, Molecular Biology Techniques, Cell Cycle Inhibitors, Molecular Biology, Cyclin-Dependent Kinase Inhibitor p16, Ecology, Evolution, Behavior and Systematics, Cell Proliferation, Cyclin-Dependent Kinase Inhibitor p15, REGULATORY CIRCUITRY, Science & Technology, Base Sequence, Cell growth, REPRESSION, G1 Phase, Biology and Life Sciences, Cell Biology, Promoter Regions, Genetic/genetics, Embryonic stem cell, lcsh:Genetics, SELF-RENEWAL, HEK293 Cells, 030104 developmental biology, Gene Expression Regulation, Specimen Preparation and Treatment, Cancer research, Cloning

وصف الملف: Electronic-eCollection; application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0baf0be0d381ed144c662e251481d377
https://lirias.kuleuven.be/handle/123456789/629757

المؤلفون: Vijaykumar Chennupati, Mauro Delorenzi, Beena Jeevan-Raj, Mélanie Charmoy, Jasmine Gehrig, Camille Grandclément, Paolo Angelino, Werner Held

المصدر: Cell reports, vol. 20, no. 3, pp. 613-626
Cell Reports, Vol 20, Iss 3, Pp 613-626 (2017)

مصطلحات موضوعية: 0301 basic medicine, T cell factor 1, NK cells, Biology, General Biochemistry, Genetics and Molecular Biology, Gene Expression Regulation, Enzymologic, Granzymes, GZMB, 03 medical and health sciences, Interleukin 21, Mice, 0302 clinical medicine, granzyme B, Cytotoxic T cell, Animals, Tcf1, Hepatocyte Nuclear Factor 1-alpha, lcsh:QH301-705.5, Mice, Knockout, Lymphokine-activated killer cell, self-destruction, Janus kinase 3, Cell biology, Granzyme B, Killer Cells, Natural, 030104 developmental biology, Granzyme, lcsh:Biology (General), Gene Expression Regulation, Enzymologic/immunology, Granzymes/genetics, Granzymes/immunology, Hepatocyte Nuclear Factor 1-alpha/genetics, Hepatocyte Nuclear Factor 1-alpha/immunology, Killer Cells, Natural/immunology, biology.protein, Interleukin 12, 030215 immunology

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e428342430ee56b6a6522f8e9a3e8ce4
https://pubmed.ncbi.nlm.nih.gov/28723565

المؤلفون: Torben Hansen, Tina Vilsbøll, Oluf Pedersen, Signe Harring Østoft, Jens J. Holst, Jonatan I. Bagger, Filip K. Knop

المصدر: Ostoft, S H, Bagger, J I, Hansen, T, Pedersen, O, Holst, J J, Knop, F K & Vilsboll, T 2014, ' Incretin Effect and Glucagon Responses to Oral and Intravenous Glucose in Patients With Maturity-Onset Diabetes of the Young-Type 2 and Type 3 ', Diabetes, vol. 63, no. 8, pp. 2838-2844 . https://doi.org/10.2337/db13-1878

مصطلحات موضوعية: Adult, Male, endocrine system, medicine.medical_specialty, Endocrinology, Diabetes and Metabolism, Glucokinase/genetics, Administration, Oral, Incretin, Gastric Inhibitory Polypeptide, Type 2 diabetes, Glucagon-Like Peptide 1/genetics, Incretins, Glucagon, Gastric Inhibitory Polypeptide/genetics, Maturity onset diabetes of the young, Glucagon-Like Peptide 1, Internal medicine, Diabetes mellitus, Glucokinase, Gastric Emptying/drug effects, Internal Medicine, medicine, Humans, Hepatocyte Nuclear Factor 1-alpha, Glucagon/metabolism, Hepatocyte Nuclear Factor 1-alpha/genetics, business.industry, digestive, oral, and skin physiology, Middle Aged, medicine.disease, HNF1A, Glucose/administration & dosage, Hepatocyte nuclear factors, Glucose, Endocrinology, Diabetes Mellitus, Type 2, Gastric Emptying, Gene Expression Regulation, Incretins/metabolism, Diabetes Mellitus, Type 2/genetics, Administration, Intravenous, Female, Insulin Resistance, business, hormones, hormone substitutes, and hormone antagonists

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::26b18df8b3da28740016902fd7e1ff1f
https://doi.org/10.2337/db13-1878

المؤلفون: Silvia A. Fuertes Marraco, Leonardo Scarpellino, Vijaykumar Chennupati, Sylvain Pradervand, Daniela Pais Ferreira, Karin Schaeuble, Imran Siddiqui, Werner Held, Sanjiv A. Luther, Sandra Calderon-Copete, Santiago J. Carmona, Daniel E. Speiser, David Gfeller

المصدر: Immunity, vol. 50, no. 1, pp. 195-211.e10

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_treatment, Cellular differentiation, Immunology, hemic and immune systems, chemical and pharmacologic phenomena, Immunotherapy, Biology, Immune checkpoint, 3. Good health, Blockade, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Infectious Diseases, Cancer immunotherapy, 030220 oncology & carcinogenesis, medicine, Cancer research, Immunology and Allergy, Cytotoxic T cell, Animals, Antibodies, Monoclonal/therapeutic use, CD8-Positive T-Lymphocytes/drug effects, CD8-Positive T-Lymphocytes/immunology, Cell Differentiation, Cell Proliferation, Hepatitis A Virus Cellular Receptor 2/antagonists & inhibitors, Hepatocyte Nuclear Factor 1-alpha/genetics, Hepatocyte Nuclear Factor 1-alpha/metabolism, Humans, Lymphocytes, Tumor-Infiltrating/drug effects, Lymphocytes, Tumor-Infiltrating/immunology, Melanoma/immunology, Melanoma/therapy, Melanoma, Experimental, Mice, Mice, Inbred C57BL, Programmed Cell Death 1 Receptor/antagonists & inhibitors, Stem Cells/immunology, T-Lymphocyte Subsets/immunology, T cell exhaustion, T cell factor 1, T cell reinvigoration, cancer immunotherapy, checkpoint blockade, memory-like T cells, stem-like T cells, therapeutic vaccination, Checkpoint Blockade Immunotherapy, CD8

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::39da4292d2defbf484e275cce57201d8
https://doi.org/10.1016/j.immuni.2018.12.021

المؤلفون: Isabelle Virard, Claes B. Wollheim, Donat Kögel, Marjan Slak Rupnik, Hella Wobser, Angela M. Farrelly, Heiko Düssmann, Jochen H. M. Prehn, Hans-Georg König, Caroline Bonner, Caoimhín G. Concannon, Mathurin Baquié, Maria M. Byrne

المصدر: Journal of Biological Chemistry, Vol. 286, No 29 (2011) pp. 25719-28

مصطلحات موضوعية: endocrine system, Insulin-Secreting Cells/drug effects/metabolism, Down-Regulation, Bone Morphogenetic Protein 3, Bone morphogenetic protein 3, Biochemistry, Maturity onset diabetes of the young, Frameshift mutation, Mice, Downregulation and upregulation, Insulin-Secreting Cells, Cell Line, Tumor, Gene expression, medicine, Insulin, Animals, Humans, Hepatocyte Nuclear Factor 1-alpha, Down-Regulation/drug effects/genetics, Frameshift Mutation, Promoter Regions, Genetic, ddc:612, Bone Morphogenetic Protein 3/pharmacology, Hepatocyte Nuclear Factor 1-alpha/genetics, Molecular Biology, Oligonucleotide Array Sequence Analysis, biology, Gene Expression Profiling, Insulin/genetics, Cell Biology, medicine.disease, Promoter Regions, Genetic/genetics, Molecular biology, Rats, HNF1A, Gene expression profiling, Hepatocyte nuclear factors, biology.protein, Frameshift Mutation/drug effects

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d0fc6efc5cb2d49e650c7c0711722e10
https://doi.org/10.1074/jbc.m110.215525