المؤلفون: Nummela P; Applied Tumor Genomics Research Program, Research Programs Unit, University of Helsinki, Helsinki, Finland.; Department of Pathology, HUSLAB, HUS Diagnostic Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland., Zafar S; Applied Tumor Genomics Research Program, Research Programs Unit, University of Helsinki, Helsinki, Finland.; Department of Pathology, HUSLAB, HUS Diagnostic Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland., Veikkolainen E; Applied Tumor Genomics Research Program, Research Programs Unit, University of Helsinki, Helsinki, Finland.; Department of Pathology, HUSLAB, HUS Diagnostic Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland., Ukkola I; Applied Tumor Genomics Research Program, Research Programs Unit, University of Helsinki, Helsinki, Finland.; Department of Pathology, HUSLAB, HUS Diagnostic Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland., Cinella V; Applied Tumor Genomics Research Program, Research Programs Unit, University of Helsinki, Helsinki, Finland.; Department of Pathology, HUSLAB, HUS Diagnostic Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland., Ayo A; Translational Cancer Medicine Research Program, Research Programs Unit, University of Helsinki, Helsinki, Finland., Asghar MY; Cell and Tissue Dynamics Research Program, Institute of Biotechnology, HiLife, University of Helsinki, Helsinki, Finland.; Minerva Foundation Institute for Medical Research, Helsinki, Finland., Välimäki N; Applied Tumor Genomics Research Program, Research Programs Unit, University of Helsinki, Helsinki, Finland.; Department of Medical and Clinical Genetics, University of Helsinki, Helsinki, Finland., Törnquist K; Minerva Foundation Institute for Medical Research, Helsinki, Finland.; Faculty of Science and Engineering, Cell Biology, Åbo Akademi University, Turku, Finland., Karhu A; Applied Tumor Genomics Research Program, Research Programs Unit, University of Helsinki, Helsinki, Finland.; Department of Medical and Clinical Genetics, University of Helsinki, Helsinki, Finland., Laakkonen P; Translational Cancer Medicine Research Program, Research Programs Unit, University of Helsinki, Helsinki, Finland., Aaltonen LA; Applied Tumor Genomics Research Program, Research Programs Unit, University of Helsinki, Helsinki, Finland.; Department of Medical and Clinical Genetics, University of Helsinki, Helsinki, Finland., Ristimäki A; Applied Tumor Genomics Research Program, Research Programs Unit, University of Helsinki, Helsinki, Finland.; Department of Pathology, HUSLAB, HUS Diagnostic Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.

المصدر: International journal of cancer [Int J Cancer] 2024 Jun 01; Vol. 154 (11), pp. 1987-1998. Date of Electronic Publication: 2024 Feb 06.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 0042124 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-0215 (Electronic) Linking ISSN: 00207136 NLM ISO Abbreviation: Int J Cancer Subsets: MEDLINE

مواضيع طبية MeSH: Chromogranins*/genetics , Chromogranins*/metabolism , Colorectal Neoplasms*/genetics , Cyclic Nucleotide Phosphodiesterases, Type 4*/genetics , Cyclic Nucleotide Phosphodiesterases, Type 4*/metabolism , GTP-Binding Protein alpha Subunits, Gs*/genetics , GTP-Binding Protein alpha Subunits, Gs*/metabolism, Animals ; Humans ; Mice ; HCT116 Cells ; Mice, Nude ; Mutation ; Phosphodiesterase 4 Inhibitors/pharmacology

المؤلفون: Zimpfer A; Institute of Pathology, University Medical Center Rostock, Strempelstr. 14, Rostock, 18055 Germany. Electronic address: annette.zimpfer@med.uni-rostock.de., Abel LM; Institute of Pathology, University Medical Center Rostock, Strempelstr. 14, Rostock, 18055 Germany., Alozie A; Department of Cardiac Surgery, Rostock Heart Center, University Medical Center Rostock, Schillingallee 35, 18057, Rostock, Germany., Etz CD; Department of Cardiac Surgery, Rostock Heart Center, University Medical Center Rostock, Schillingallee 35, 18057, Rostock, Germany., Schneider B; Institute of Pathology, University Medical Center Rostock, Strempelstr. 14, Rostock, 18055 Germany.

المصدر: Cardiovascular pathology : the official journal of the Society for Cardiovascular Pathology [Cardiovasc Pathol] 2024 Jul-Aug; Vol. 71, pp. 107632. Date of Electronic Publication: 2024 Mar 15.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier Science Pub. Co Country of Publication: United States NLM ID: 9212060 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1879-1336 (Electronic) Linking ISSN: 10548807 NLM ISO Abbreviation: Cardiovasc Pathol Subsets: MEDLINE

مواضيع طبية MeSH: Cyclic AMP-Dependent Protein Kinase RIalpha Subunit*/genetics , GTP-Binding Protein alpha Subunits, Gs*/genetics , Chromogranins*/genetics , Heart Neoplasms*/genetics , Heart Neoplasms*/pathology , Heart Neoplasms*/enzymology , Myxoma*/genetics , Myxoma*/pathology , Myxoma*/enzymology, Humans ; Middle Aged ; Female ; Male ; Adult ; Aged ; Retrospective Studies ; DNA Mutational Analysis ; Genetic Predisposition to Disease ; Mutation ; Young Adult ; Phenotype ; High-Throughput Nucleotide Sequencing ; Adolescent ; Carney Complex/genetics ; Carney Complex/enzymology ; Carney Complex/pathology ; Biomarkers, Tumor/genetics ; Cyclic AMP-Dependent Protein Kinase Catalytic Subunits

المؤلفون: Liu L; Molecular Signaling Section, LBC, National Institute of Diabetes and Digestive and Kidney Diseases, Bethesda, MD, 20892, USA. liu.liu@nih.gov., Ei K; Duke Molecular Physiology Institute, Duke University, Durham, NC, 27701, USA., Dattaroy D; Molecular Signaling Section, LBC, National Institute of Diabetes and Digestive and Kidney Diseases, Bethesda, MD, 20892, USA., Barella LF; Molecular Signaling Section, LBC, National Institute of Diabetes and Digestive and Kidney Diseases, Bethesda, MD, 20892, USA., Cui Y; Molecular Signaling Section, LBC, National Institute of Diabetes and Digestive and Kidney Diseases, Bethesda, MD, 20892, USA., Gray SM; Duke Molecular Physiology Institute, Duke University, Durham, NC, 27701, USA., Guedikian C; Duke Molecular Physiology Institute, Duke University, Durham, NC, 27701, USA., Chen M; Metabolic Diseases Branch, National Institute of Diabetes and Digestive and Kidney Diseases, Bethesda, MD, 20892, USA., Weinstein LS; Metabolic Diseases Branch, National Institute of Diabetes and Digestive and Kidney Diseases, Bethesda, MD, 20892, USA., Knuth E; Division of Endocrinology, Diabetes and Metabolism, Department of Medicine, University of Wisconsin-Madison, Madison, WI, 53705, USA., Jin E; Division of Endocrinology, Diabetes and Metabolism, Department of Medicine, University of Wisconsin-Madison, Madison, WI, 53705, USA., Merrins MJ; Division of Endocrinology, Diabetes and Metabolism, Department of Medicine, University of Wisconsin-Madison, Madison, WI, 53705, USA., Roman J; Institute for Diabetes, Obesity and Metabolism, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, 19104, USA., Kaestner KH; Institute for Diabetes, Obesity and Metabolism, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, 19104, USA., Doliba N; Institute for Diabetes, Obesity and Metabolism, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, 19104, USA., Campbell JE; Duke Molecular Physiology Institute, Duke University, Durham, NC, 27701, USA., Wess J; Molecular Signaling Section, LBC, National Institute of Diabetes and Digestive and Kidney Diseases, Bethesda, MD, 20892, USA. jurgenw@niddk.nih.gov.

المصدر: Nature communications [Nat Commun] 2024 Jun 15; Vol. 15 (1), pp. 5129. Date of Electronic Publication: 2024 Jun 15.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE

مواضيع طبية MeSH: Glucagon*/metabolism , Glucagon-Secreting Cells*/metabolism , Signal Transduction* , Mice, Knockout* , GTP-Binding Protein alpha Subunits, Gs*/metabolism, Animals ; Mice ; Adenosine/metabolism ; Receptor, Adenosine A2A/metabolism ; Receptor, Adenosine A2A/genetics ; Male ; Mice, Inbred C57BL ; Islets of Langerhans/metabolism

المؤلفون: Tang C; Department of Neurosurgery, Affiliated Jinling Hospital, Medical School of Nanjing University, Nanjing, 210002, China., Zhong C; Department of Neurosurgery, Children's Hospital of Nanjing Medical University, Nanjing, 210019, China., Zhu J; Department of Neurosurgery, Affiliated Jinling Hospital, Medical School of Nanjing University, Nanjing, 210002, China., Yuan F; Department of Neurosurgery, Affiliated Jinling Hospital, Medical School of Nanjing University, Nanjing, 210002, China., Yang J; Department of Neurosurgery, Affiliated Jinling Hospital, Medical School of Nanjing University, Nanjing, 210002, China., Xu Y; Affiliated Eye Hospital, Nanjing Medical University, Nanjing, 210029, China., Ma C; Department of Neurosurgery, Affiliated Jinling Hospital, Medical School of Nanjing University, Nanjing, 210002, China.; Affiliated Eye Hospital, Nanjing Medical University, Nanjing, 210029, China.; Department of Neurosurgery, Jinling Hospital, Southern Medical University, Nanjing, 210002, China.; Department of Neurosurgery, Jinling Hospital, Nanjing Medical University, Nanjing, 210002, China.

المصدر: Oncology research [Oncol Res] 2024 May 23; Vol. 32 (6), pp. 1079-1091. Date of Electronic Publication: 2024 May 23 (Print Publication: 2024).

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Tech Science Press Country of Publication: United States NLM ID: 9208097 Publication Model: eCollection Cited Medium: Internet ISSN: 1555-3906 (Electronic) Linking ISSN: 09650407 NLM ISO Abbreviation: Oncol Res Subsets: MEDLINE

مواضيع طبية MeSH: GTP-Binding Protein alpha Subunits, Gs*/genetics , GTP-Binding Protein alpha Subunits, Gs*/metabolism , Growth Hormone-Secreting Pituitary Adenoma*/genetics , Growth Hormone-Secreting Pituitary Adenoma*/pathology , Growth Hormone-Secreting Pituitary Adenoma*/metabolism , Mutation* , Chromogranins*/genetics , Chromogranins*/metabolism , Neoplasm Invasiveness* , Epithelial-Mesenchymal Transition*/genetics , RNA, Long Noncoding*/genetics, Animals ; Humans ; Mice ; Female ; Male ; Cell Line, Tumor ; Adenoma/genetics ; Adenoma/pathology ; Adenoma/metabolism ; Middle Aged ; Adult ; Cell Proliferation/genetics ; Xenograft Model Antitumor Assays ; Wnt Signaling Pathway/genetics ; Gene Expression Regulation, Neoplastic

المؤلفون: Elli FM; Endocrinology Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy., Mattinzoli D; Department of Nephrology, Dialysis and Renal Transplantation, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy., Ikehata M; Department of Nephrology, Dialysis and Renal Transplantation, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy., Bagnaresi F; Endocrinology Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy., Maffini MA; Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy., Del Sindaco G; Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy., Pagnano A; Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy., Lucca C; Endocrinology Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy., Messa P; Department of Nephrology, Dialysis and Renal Transplantation, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.; Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy., Arosio M; Endocrinology Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.; Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy., Castellano G; Department of Nephrology, Dialysis and Renal Transplantation, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.; Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy., Alfieri CM; Department of Nephrology, Dialysis and Renal Transplantation, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.; Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy., Mantovani G; Endocrinology Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.; Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy.

المصدر: Frontiers in endocrinology [Front Endocrinol (Lausanne)] 2024 May 17; Vol. 15, pp. 1296886. Date of Electronic Publication: 2024 May 17 (Print Publication: 2024).

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Frontiers Research Foundation] Country of Publication: Switzerland NLM ID: 101555782 Publication Model: eCollection Cited Medium: Print ISSN: 1664-2392 (Print) Linking ISSN: 16642392 NLM ISO Abbreviation: Front Endocrinol (Lausanne) Subsets: MEDLINE

مواضيع طبية MeSH: GTP-Binding Protein alpha Subunits, Gs*/genetics , GTP-Binding Protein alpha Subunits, Gs*/metabolism , Chromogranins*/genetics , Cell Differentiation*/genetics , Osteogenesis*/genetics , Osteoblasts*/metabolism , Osteoblasts*/cytology , Mesenchymal Stem Cells*/metabolism , Mesenchymal Stem Cells*/cytology, Humans ; Gene Silencing ; Cell Line

المؤلفون: Desai R; Department of Medicine, Beth Israel Deaconess Medical Center, Cancer Research Institute, Harvard Medical School, Boston, Massachusetts., Huang L; Department of Medicine, Beth Israel Deaconess Medical Center, Cancer Research Institute, Harvard Medical School, Boston, Massachusetts., Gonzalez RS; Department of Medicine, Beth Israel Deaconess Medical Center, Cancer Research Institute, Harvard Medical School, Boston, Massachusetts., Muthuswamy SK; Laboratory of Cancer Biology and Genetics, NCI, NIH, Bethesda, Maryland.

المصدر: Molecular cancer research : MCR [Mol Cancer Res] 2024 May 02; Vol. 22 (5), pp. 440-451.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Intramural

بيانات الدورية: Publisher: American Association for Cancer Research Country of Publication: United States NLM ID: 101150042 Publication Model: Print Cited Medium: Internet ISSN: 1557-3125 (Electronic) Linking ISSN: 15417786 NLM ISO Abbreviation: Mol Cancer Res Subsets: MEDLINE

مواضيع طبية MeSH: GTP-Binding Protein alpha Subunits, Gs*/metabolism , GTP-Binding Protein alpha Subunits, Gs*/genetics , Cell Proliferation* , Organoids*/metabolism , Organoids*/pathology , Chromogranins*/genetics , Chromogranins*/metabolism , Cyclic AMP-Dependent Protein Kinases*/metabolism , Cyclic AMP-Dependent Protein Kinases*/genetics , Pancreatic Neoplasms*/pathology , Pancreatic Neoplasms*/genetics , Pancreatic Neoplasms*/metabolism, Humans ; Carcinoma, Pancreatic Ductal/pathology ; Carcinoma, Pancreatic Ductal/genetics ; Carcinoma, Pancreatic Ductal/metabolism ; Pancreatic Ducts/metabolism ; Pancreatic Ducts/pathology ; Pancreatic Ducts/cytology ; Acinar Cells/metabolism ; Acinar Cells/pathology

المؤلفون: Papasergi-Scott MM; Department of Molecular and Cellular Physiology, Stanford University School of Medicine, Stanford, CA, USA., Pérez-Hernández G; Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Institute of Medical Physics and Biophysics, Berlin, Germany., Batebi H; Institute of Medical Physics and Biophysics, Faculty of Medicine, Leipzig University, Leipzig, Germany., Gao Y; Department of Molecular and Cellular Physiology, Stanford University School of Medicine, Stanford, CA, USA., Eskici G; Department of Molecular and Cellular Physiology, Stanford University School of Medicine, Stanford, CA, USA., Seven AB; Department of Molecular and Cellular Physiology, Stanford University School of Medicine, Stanford, CA, USA., Panova O; Department of Molecular and Cellular Physiology, Stanford University School of Medicine, Stanford, CA, USA., Hilger D; Department of Molecular and Cellular Physiology, Stanford University School of Medicine, Stanford, CA, USA.; Institute of Pharmaceutical Chemistry, Philipps-University of Marburg, Marburg, Germany., Casiraghi M; Department of Molecular and Cellular Physiology, Stanford University School of Medicine, Stanford, CA, USA.; Dipartimento di Bioscienze, Università degli Studi di Milano, Milan, Italy., He F; Department of Molecular and Cellular Physiology, Stanford University School of Medicine, Stanford, CA, USA., Maul L; Department of Chemistry and Pharmacy, Medicinal Chemistry, Friedrich-Alexander University Erlangen-Nürnberg, Erlangen, Germany., Gmeiner P; Department of Chemistry and Pharmacy, Medicinal Chemistry, Friedrich-Alexander University Erlangen-Nürnberg, Erlangen, Germany., Kobilka BK; Department of Molecular and Cellular Physiology, Stanford University School of Medicine, Stanford, CA, USA., Hildebrand PW; Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Institute of Medical Physics and Biophysics, Berlin, Germany.; Institute of Medical Physics and Biophysics, Faculty of Medicine, Leipzig University, Leipzig, Germany.; Berlin Institute of Health at Charité-Universitätsmedizin Berlin, Berlin, Germany., Skiniotis G; Department of Molecular and Cellular Physiology, Stanford University School of Medicine, Stanford, CA, USA. yiorgo@stanford.edu.; Department of Structural Biology, Stanford University School of Medicine, Stanford, CA, USA. yiorgo@stanford.edu.

المصدر: Nature [Nature] 2024 May; Vol. 629 (8014), pp. 1182-1191. Date of Electronic Publication: 2024 Mar 13.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 0410462 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-4687 (Electronic) Linking ISSN: 00280836 NLM ISO Abbreviation: Nature Subsets: MEDLINE

مواضيع طبية MeSH: Cryoelectron Microscopy* , GTP-Binding Protein alpha Subunits, Gs*/chemistry , GTP-Binding Protein alpha Subunits, Gs*/drug effects , GTP-Binding Protein alpha Subunits, Gs*/metabolism , GTP-Binding Protein alpha Subunits, Gs*/ultrastructure , Receptors, Adrenergic, beta-2*/metabolism , Receptors, Adrenergic, beta-2*/chemistry , Receptors, Adrenergic, beta-2*/ultrastructure, Humans ; Binding Sites ; Guanosine Triphosphate/metabolism ; Guanosine Triphosphate/pharmacology ; Models, Molecular ; Molecular Dynamics Simulation ; Protein Binding ; Time Factors ; Enzyme Activation/drug effects ; Protein Domains ; Protein Structure, Secondary ; Signal Transduction/drug effects

المؤلفون: Sippelli F; Department of Human Pathology of Adulthood and Childhood, University of Messina, Messina, Italy., Briuglia S; Department of Biomedical and Dental Sciences and Morphofunctional Imaging, University of Messina, Messina, Italy., Ferraloro C; Department of Human Pathology of Adulthood and Childhood, University of Messina, Messina, Italy., Capra AP; Department of Chemical, Biological, Pharmaceutical, and Environmental Sciences, University of Messina, Messina, Italy., Agolini E; Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Abbate T; Department of Human Pathology of Adulthood and Childhood, University of Messina, Messina, Italy., Pepe G; Department of Human Pathology of Adulthood and Childhood, University of Messina, Messina, Italy., Aversa T; Department of Human Pathology of Adulthood and Childhood, University of Messina, Messina, Italy., Wasniewska M; Department of Human Pathology of Adulthood and Childhood, University of Messina, Messina, Italy., Corica D; Department of Human Pathology of Adulthood and Childhood, University of Messina, Messina, Italy. coricadomenico@hotmail.com.

المصدر: BMC pediatrics [BMC Pediatr] 2024 Apr 25; Vol. 24 (1), pp. 271. Date of Electronic Publication: 2024 Apr 25.

نوع المنشور: Journal Article; Case Reports; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 100967804 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2431 (Electronic) Linking ISSN: 14712431 NLM ISO Abbreviation: BMC Pediatr Subsets: MEDLINE

مواضيع طبية MeSH: GTP-Binding Protein alpha Subunits, Gs*/genetics , Pseudohypoparathyroidism*/genetics , Pseudohypoparathyroidism*/diagnosis , Chromogranins*/genetics, Humans ; Female ; Child ; Phenotype ; Pedigree ; Mutation ; Adolescent ; Child, Preschool

المؤلفون: Suntharesan J; Department of Endocrinology, Alder Hey Children's Hospital, Liverpool, UK.; Department of Paediatric and Adolocents Diabetes and Endocrinology, Sirimavo Bandaranayake Specialized Children's Hospital, Peradeniya, Sri Lanka., Lyulcheva-Bennett E; Liverpool Centre for Genomic Medicine (LCGM), Liverpool Women's NHS Foundation Trust, Liverpool, UK., Hart R; Liverpool Centre for Genomic Medicine (LCGM), Liverpool Women's NHS Foundation Trust, Liverpool, UK., Pizer B; Department of Oncology, Alder Hey Children's Hospital, Liverpool, UK., Hayden J; Department of Oncology, Alder Hey Children's Hospital, Liverpool, UK., Ramakrishnan R; Department of Endocrinology, Alder Hey Children's Hospital, Liverpool, UK.

المصدر: Journal of pediatric endocrinology & metabolism : JPEM [J Pediatr Endocrinol Metab] 2024 Mar 27; Vol. 37 (5), pp. 467-471. Date of Electronic Publication: 2024 Mar 27 (Print Publication: 2024).

نوع المنشور: Case Reports

بيانات الدورية: Publisher: Walter de Gruyter Country of Publication: Germany NLM ID: 9508900 Publication Model: Electronic-Print Cited Medium: Internet ISSN: 2191-0251 (Electronic) Linking ISSN: 0334018X NLM ISO Abbreviation: J Pediatr Endocrinol Metab Subsets: MEDLINE

مواضيع طبية MeSH: GTP-Binding Protein alpha Subunits, Gs*/genetics , Chromogranins*/genetics , Medulloblastoma*/genetics , Medulloblastoma*/pathology , Ossification, Heterotopic*/genetics , Ossification, Heterotopic*/pathology , Skin Diseases, Genetic*/genetics , Skin Diseases, Genetic*/pathology , Skin Diseases, Genetic*/complications , Cerebellar Neoplasms*/genetics , Cerebellar Neoplasms*/pathology , Cerebellar Neoplasms*/complications, Humans ; Male ; Infant ; Prognosis ; Bone Diseases, Metabolic/genetics ; Bone Diseases, Metabolic/pathology ; Mutation

SCR Disease Name: Osseous Heteroplasia, Progressive

المؤلفون: Iwasaki Y; Endocrine Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA.; Tazuke Kofukai Medical Research Institute, Kitano Hospital, Osaka, Japan., Reyes M; Endocrine Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA., Jüppner H; Endocrine Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA.; Pediatric Nephrology Unit, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA., Bastepe M; Endocrine Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA.

المصدر: JCI insight [JCI Insight] 2024 Mar 08; Vol. 9 (5). Date of Electronic Publication: 2024 Mar 08.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: American Society for Clinical Investigation Country of Publication: United States NLM ID: 101676073 Publication Model: Electronic Cited Medium: Internet ISSN: 2379-3708 (Electronic) Linking ISSN: 23793708 NLM ISO Abbreviation: JCI Insight Subsets: MEDLINE

مواضيع طبية MeSH: GTP-Binding Protein alpha Subunits, Gs*/genetics , Pseudohypoparathyroidism*/genetics , Pseudohypoparathyroidism*/diagnosis, Humans ; DNA Methylation ; Genomic Imprinting ; Alleles ; Chromogranins/genetics