Temat: "GTP-Binding Protein alpha Subunits, Gs" - OpacWWW

Skocz do pozycji: 1.

Tytuł:: A Rare Skeletal Disorder, Fibrous Dysplasia: A Review of Its Pathogenesis and Therapeutic Prospects.
Autorzy:: Kim HY; Interdisciplinary Program in Bioengineering, Seoul National University, Seoul 08826, Republic of Korea.; Department of Plastic and Reconstructive Surgery, College of Medicine, Seoul National University, Seoul 03080, Republic of Korea.
Shim JH; Department of Plastic and Reconstructive Surgery, Seoul National University Bundang Hospital, Seongnam 13620, Republic of Korea.; Department of Research Administration Team, Seoul National University Bundang Hospital, Seongnam 13620, Republic of Korea.
Heo CY; Interdisciplinary Program in Bioengineering, Seoul National University, Seoul 08826, Republic of Korea.; Department of Plastic and Reconstructive Surgery, College of Medicine, Seoul National University, Seoul 03080, Republic of Korea.; Department of Plastic and Reconstructive Surgery, Seoul National University Bundang Hospital, Seongnam 13620, Republic of Korea.; Pokaż więcej
Źródło:: International journal of molecular sciences [Int J Mol Sci] 2023 Oct 26; Vol. 24 (21). Date of Electronic Publication: 2023 Oct 26.
Typ publikacji:: Journal Article; Review
MeSH Terms:: GTP-Binding Protein alpha Subunits, Gs*/metabolism
Fibrous Dysplasia of Bone*/therapy
Fibrous Dysplasia of Bone*/pathology
Humans ; Bone and Bones/metabolism ; Cell Communication

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Skocz do pozycji: 2.

Tytuł:: Whole-genome sequencing revealed a novel long-range deletion mutation spanning GNAS in familial pseudohypoparathyroidism.
Autorzy:: Fei Y; Department of Endocrinology and Metabolism, Meishan Municipal People's Hospital, Sichuan, China.
Liu L; Department of Endocrinology and Metabolism, Meishan Municipal People's Hospital, Sichuan, China.
Wu L; Department of Endocrinology and Metabolism, Meishan Municipal People's Hospital, Sichuan, China.
Wang O; Department of Endocrinology, Key Laboratory of Endocrinology, National Health Commission, Peking Union Medical College Hospital, Chinese Academy of Medical Science & Peking Union Medical College, Beijing, China.
Xing X; Department of Endocrinology, Key Laboratory of Endocrinology, National Health Commission, Peking Union Medical College Hospital, Chinese Academy of Medical Science & Peking Union Medical College, Beijing, China.
Li A; Department of Endocrinology and Metabolism, Meishan Municipal People's Hospital, Sichuan, China.
Huang L; Department of Endocrinology and Metabolism, Meishan Municipal People's Hospital, Sichuan, China.; Pokaż więcej
Źródło:: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2023 May; Vol. 11 (5), pp. e2144. Date of Electronic Publication: 2023 Jan 20.
Typ publikacji:: Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:: GTP-Binding Protein alpha Subunits, Gs*/genetics
Pseudohypoparathyroidism*/genetics
Pseudohypoparathyroidism*/diagnosis
Female ; Humans ; DNA Methylation ; Chromogranins/genetics ; Sequence Deletion

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Skocz do pozycji: 3.

Tytuł:: Structural and Functional Implication of Natural Variants of Gαs.
Autorzy:: Jeong Y; School of Pharmacy, Sungkyunkwan University, Suwon 16419, Republic of Korea.
Chung KY; School of Pharmacy, Sungkyunkwan University, Suwon 16419, Republic of Korea.; Pokaż więcej
Źródło:: International journal of molecular sciences [Int J Mol Sci] 2023 Feb 17; Vol. 24 (4). Date of Electronic Publication: 2023 Feb 17.
Typ publikacji:: Journal Article
MeSH Terms:: GTP-Binding Protein alpha Subunits, Gs*/chemistry
GTP-Binding Protein alpha Subunits, Gs*/genetics
GTP-Binding Protein alpha Subunits, Gs*/metabolism
Guanosine Diphosphate/metabolism ; Guanosine Triphosphate/metabolism ; Parathyroid Hormone/metabolism ; Signal Transduction ; Humans ; Pseudohypoparathyroidism/genetics ; Protein Conformation

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Skocz do pozycji: 4.

Tytuł:: Structures of the human cholecystokinin 1 (CCK1) receptor bound to Gs and Gq mimetic proteins provide insight into mechanisms of G protein selectivity.
Autorzy:: Mobbs JI; Drug Discovery Biology Theme, Monash Institute of Pharmaceutical Sciences, Monash University, Parkville, Victoria, Australia.
Belousoff MJ; Drug Discovery Biology Theme, Monash Institute of Pharmaceutical Sciences, Monash University, Parkville, Victoria, Australia.; ARC Centre for Cryo-Electron Microscopy of Membrane Proteins, Monash Institute of Pharmaceutical Sciences, Monash University, Parkville, Victoria, Australia.
Harikumar KG; Department of Molecular Pharmacology and Experimental Therapeutics, Mayo Clinic, Scottsdale, Arizona, United States of America.
Piper SJ; Drug Discovery Biology Theme, Monash Institute of Pharmaceutical Sciences, Monash University, Parkville, Victoria, Australia.
Xu X; Drug Discovery Biology Theme, Monash Institute of Pharmaceutical Sciences, Monash University, Parkville, Victoria, Australia.
Furness SGB; Drug Discovery Biology Theme, Monash Institute of Pharmaceutical Sciences, Monash University, Parkville, Victoria, Australia.
Venugopal H; Ramaciotti Centre for Cryo-Electron Microscopy, Monash University, Clayton, Victoria, Australia.
Christopoulos A; Drug Discovery Biology Theme, Monash Institute of Pharmaceutical Sciences, Monash University, Parkville, Victoria, Australia.
Danev R; Graduate School of Medicine, University of Tokyo, Tokyo, Japan.
Wootten D; Drug Discovery Biology Theme, Monash Institute of Pharmaceutical Sciences, Monash University, Parkville, Victoria, Australia.; ARC Centre for Cryo-Electron Microscopy of Membrane Proteins, Monash Institute of Pharmaceutical Sciences, Monash University, Parkville, Victoria, Australia.
Thal DM; Drug Discovery Biology Theme, Monash Institute of Pharmaceutical Sciences, Monash University, Parkville, Victoria, Australia.
Miller LJ; Department of Molecular Pharmacology and Experimental Therapeutics, Mayo Clinic, Scottsdale, Arizona, United States of America.
Sexton PM; Drug Discovery Biology Theme, Monash Institute of Pharmaceutical Sciences, Monash University, Parkville, Victoria, Australia.; ARC Centre for Cryo-Electron Microscopy of Membrane Proteins, Monash Institute of Pharmaceutical Sciences, Monash University, Parkville, Victoria, Australia.; Pokaż więcej
Źródło:: PLoS biology [PLoS Biol] 2021 Jun 04; Vol. 19 (6), pp. e3001295. Date of Electronic Publication: 2021 Jun 04 (Print Publication: 2021).
Typ publikacji:: Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:: GTP-Binding Protein alpha Subunits, Gq-G11/*metabolism
GTP-Binding Protein alpha Subunits, Gs/*metabolism
Receptors, Cholecystokinin/*chemistry
Receptors, Cholecystokinin/*metabolism
Cholecystokinin/metabolism ; Cholesterol/metabolism ; GTP-Binding Protein alpha Subunits, Gq-G11/chemistry ; GTP-Binding Protein alpha Subunits, Gq-G11/ultrastructure ; GTP-Binding Protein alpha Subunits, Gs/chemistry ; GTP-Binding Protein alpha Subunits, Gs/ultrastructure ; HEK293 Cells ; Humans ; Models, Molecular ; Protein Binding ; Receptors, Cholecystokinin/ultrastructure ; Signal Transduction

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Skocz do pozycji: 5.

Tytuł:: Somatotroph Tumors and the Epigenetic Status of the GNAS Locus.
Autorzy:: Romanet P; Aix Marseille Univ, INSERM, APHM, MMG, UMR1251, Marmara Institute, La Conception, Hospital Laboratory of Molecular Biology, 13385 Marseille, France.
Galluso J; Aix Marseille Univ, INSERM, APHM, MMG, UMR1251, Marmara Institute, La Conception, Hospital Laboratory of Molecular Biology, 13385 Marseille, France.
Kamenicky P; Université Paris-Saclay, Inserm, Physiologie et Physiopathologie Endocriniennes, Assistance Publique-Hôpitaux de Paris, Hôpital Bicêtre, Service d'Endocrinologie et des Maladies de la Reproduction, Centre de Référence des Maladies Rares de l'Hypophyse, 94270 Le Kremlin-Bicêtre, Île-de-France, France.
Hage M; Université Paris-Saclay, Inserm, Physiologie et Physiopathologie Endocriniennes, Assistance Publique-Hôpitaux de Paris, Hôpital Bicêtre, Service d'Endocrinologie et des Maladies de la Reproduction, Centre de Référence des Maladies Rares de l'Hypophyse, 94270 Le Kremlin-Bicêtre, Île-de-France, France.
Theodoropoulou M; Medizinische Klinik und Poliklinik IV, LMU Klinikum, Ludwig Maximilian University Munich, 80336 Munich, Germany.
Roche C; APHM, La Conception Hospital, Laboratory of Molecular Biology, 13385 Marseille, France.
Graillon T; Aix Marseille Univ, INSERM, APHM, MMG, UMR1251, Marmara Institute, La Timone Hospital Department of Neurosurgery, 13385 Marseille, France.
Etchevers HC; Aix Marseille Univ, INSERM, MMG, UMR1251, Marmara Institute, 13385 Marseille, France.
De Murat D; Université de Paris, Institut Cochin, Inserm U1016, CNRS UMR8104, F-75014 Paris, France.
Mougel G; Aix Marseille Univ, INSERM, APHM, MMG, UMR1251, Marmara Institute, La Conception, Hospital Laboratory of Molecular Biology, 13385 Marseille, France.
Figarella-Branger D; Aix-Marseille Univ, APHM, CNRS, INP, Inst Neurophysiopathol, CHU Timone, Service d'Anatomie Pathologique et de Neuropathologie, 13385 Marseille, France.
Dufour H; Aix Marseille Univ, INSERM, APHM, MMG, UMR1251, Marmara Institute, La Timone Hospital Department of Neurosurgery, 13385 Marseille, France.
Cuny T; Aix Marseille Univ, INSERM, APHM, MMG, UMR1251, Marmara Institute, Department of Endocrinology, Hospital La Conception, 13385 Marseille, France.
Assié G; Université de Paris, Institut Cochin, Inserm U1016, CNRS UMR8104, F-75014 Paris, France.; Department of Endocrinology, Center for Rare Adrenal Diseases, Assistance Publique-Hôpitaux de Paris, Hôpital Cochin, 75014 Paris, France.
Barlier A; Aix Marseille Univ, INSERM, APHM, MMG, UMR1251, Marmara Institute, La Conception, Hospital Laboratory of Molecular Biology, 13385 Marseille, France.; Pokaż więcej
Źródło:: International journal of molecular sciences [Int J Mol Sci] 2021 Jul 15; Vol. 22 (14). Date of Electronic Publication: 2021 Jul 15.
Typ publikacji:: Journal Article
MeSH Terms:: Chromogranins/*genetics
GTP-Binding Protein alpha Subunits, Gs/*genetics
Pituitary Neoplasms/*genetics
Somatotrophs/*metabolism
Adult ; Aged ; Aged, 80 and over ; Alleles ; Chromogranins/metabolism ; DNA Methylation ; Epigenesis, Genetic ; Female ; GTP-Binding Protein alpha Subunits, Gs/metabolism ; Gene Expression Regulation, Neoplastic ; Genomic Imprinting ; Humans ; Male ; Middle Aged ; Mutation ; Pituitary Neoplasms/metabolism ; Pituitary Neoplasms/pathology ; Somatotrophs/pathology ; Young Adult

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Skocz do pozycji: 6.

Tytuł:: Associations of GNAS Mutations with Surgical Outcomes in Patients with Growth Hormone-Secreting Pituitary Adenoma.
Autorzy:: Jung H; Division of Endocrinology, Department of Internal Medicine, Yonsei University College of Medicine, Seoul, Korea.; Department of Internal Medicine, Ewha Womans University School of Medicine, Seoul, Korea.
Kim K; Division of Endocrinology, Department of Internal Medicine, Yonsei University College of Medicine, Seoul, Korea.
Kim D; Division of Endocrinology, Department of Internal Medicine, Yonsei University College of Medicine, Seoul, Korea.
Moon JH; Department of Neurosurgery, Yonsei University College of Medicine, Seoul, Korea.
Kim EH; Department of Neurosurgery, Yonsei University College of Medicine, Seoul, Korea.
Kim SH; Department of Pathology, Yonsei University College of Medicine, Seoul, Korea.
Ku CR; Division of Endocrinology, Department of Internal Medicine, Yonsei University College of Medicine, Seoul, Korea.
Lee EJ; Division of Endocrinology, Department of Internal Medicine, Yonsei University College of Medicine, Seoul, Korea.; Pokaż więcej
Źródło:: Endocrinology and metabolism (Seoul, Korea) [Endocrinol Metab (Seoul)] 2021 Apr; Vol. 36 (2), pp. 342-350. Date of Electronic Publication: 2021 Mar 23.
Typ publikacji:: Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:: Chromogranins*/genetics
GTP-Binding Protein alpha Subunits, Gs*/genetics
Growth Hormone-Secreting Pituitary Adenoma*/genetics
Growth Hormone-Secreting Pituitary Adenoma*/pathology
Growth Hormone-Secreting Pituitary Adenoma*/surgery
Female ; Humans ; Male ; Mutation ; Treatment Outcome

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Skocz do pozycji: 7.

Tytuł:: Progressive osseous heteroplasia in a 5-year-old boy with a novel mutation in exon 2 of GNAS: a case presentation and literature review.
Autorzy:: Ma J; Department of Immunology, Ministry of Education Key Laboratory of Major Diseases in Children, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, No. 56 Nan Li Shi Lu, Beijing, 100045, China.
Mo W; Department of Immunology, Ministry of Education Key Laboratory of Major Diseases in Children, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, No. 56 Nan Li Shi Lu, Beijing, 100045, China.
Sun J; Department of Immunology, Ministry of Education Key Laboratory of Major Diseases in Children, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, No. 56 Nan Li Shi Lu, Beijing, 100045, China.
Li Y; Department of Immunology, Ministry of Education Key Laboratory of Major Diseases in Children, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, No. 56 Nan Li Shi Lu, Beijing, 100045, China.
Han T; Department of Immunology, Ministry of Education Key Laboratory of Major Diseases in Children, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, No. 56 Nan Li Shi Lu, Beijing, 100045, China.
Mao H; Department of Immunology, Ministry of Education Key Laboratory of Major Diseases in Children, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, No. 56 Nan Li Shi Lu, Beijing, 100045, China. .; Pokaż więcej
Źródło:: BMC musculoskeletal disorders [BMC Musculoskelet Disord] 2023 Mar 31; Vol. 24 (1), pp. 247. Date of Electronic Publication: 2023 Mar 31.
Typ publikacji:: Systematic Review; Case Reports; Journal Article
MeSH Terms:: Ossification, Heterotopic*/diagnostic imaging
Ossification, Heterotopic*/genetics
Myositis Ossificans*/diagnostic imaging
Myositis Ossificans*/genetics
Male ; Humans ; Child, Preschool ; GTP-Binding Protein alpha Subunits, Gs/genetics ; Rare Diseases/genetics ; Exons/genetics ; Mutation ; Chromogranins/genetics
SCR Disease Name:: Osseous Heteroplasia, Progressive

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Skocz do pozycji: 8.

Tytuł:: Exceptionally rare IDH1-mutant adult medulloblastoma with concurrent GNAS mutation revealed by in vivo magnetic resonance spectroscopy and deep sequencing.
Autorzy:: Liserre R; Department of Radiology, Neuroradiology Unit, ASST Spedali Civili University Hospital, Brescia, Italy.
Branzoli F; Paris Brain Institute - Institut du Cerveau (ICM), Centre de NeuroImagerie de Recherche (CENIR), Paris, France.; Sorbonne Université, UMR S 1127, Inserm U 1127, CNRS UMR 7225, ICM, F-75013, Paris, France.
Pagani F; Pathology Unit, Department of Molecular and Translational Medicine, University of Brescia, P.le Spedali Civili 1, 25125, Brescia, BS, Italy.
Gryzik M; Pathology Unit, Department of Molecular and Translational Medicine, University of Brescia, P.le Spedali Civili 1, 25125, Brescia, BS, Italy.
Cominelli M; Pathology Unit, Department of Molecular and Translational Medicine, University of Brescia, P.le Spedali Civili 1, 25125, Brescia, BS, Italy.
Miele E; Department of Pediatric Onco-Hematology and Cell and Gene Therapy, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Marjańska M; Center for Magnetic Resonance Research, Department of Radiology, University of Minnesota, Minneapolis, MN, USA.
Doglietto F; Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.; Catholic University School of Medicine, Rome, Italy.
Poliani PL; Pathology Unit, Department of Molecular and Translational Medicine, University of Brescia, P.le Spedali Civili 1, 25125, Brescia, BS, Italy. .; Pokaż więcej
Źródło:: Acta neuropathologica communications [Acta Neuropathol Commun] 2023 Mar 20; Vol. 11 (1), pp. 47. Date of Electronic Publication: 2023 Mar 20.
Typ publikacji:: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms:: Medulloblastoma*/diagnostic imaging
Medulloblastoma*/genetics
Glioma*/genetics
Brain Neoplasms*/genetics
Cerebellar Neoplasms*/diagnostic imaging
Cerebellar Neoplasms*/genetics
Humans ; Isocitrate Dehydrogenase/genetics ; Magnetic Resonance Spectroscopy/methods ; Mutation/genetics ; High-Throughput Nucleotide Sequencing ; Glutarates/metabolism ; Chromogranins/genetics ; GTP-Binding Protein alpha Subunits, Gs/genetics

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Skocz do pozycji: 9.

Tytuł:: Allosteric modulation of adenosine A1 and cannabinoid 1 receptor signaling by G-peptides.
Autorzy:: Touma AM; Department of Genetics, Cell Biology, and Development, University of Minnesota, Minneapolis, MN, USA.
Malik RU; Department of Genetics, Cell Biology, and Development, University of Minnesota, Minneapolis, MN, USA.
Gupte T; Department of Genetics, Cell Biology, and Development, University of Minnesota, Minneapolis, MN, USA.
Sivaramakrishnan S; Department of Genetics, Cell Biology, and Development, University of Minnesota, Minneapolis, MN, USA.; Pokaż więcej
Źródło:: Pharmacology research & perspectives [Pharmacol Res Perspect] 2020 Dec; Vol. 8 (6), pp. e00673.
Typ publikacji:: Journal Article; Research Support, N.I.H., Extramural
MeSH Terms:: Chromogranins/*metabolism
GTP-Binding Protein alpha Subunits, Gq-G11/*metabolism
GTP-Binding Protein alpha Subunits, Gs/*metabolism
Intracellular Signaling Peptides and Proteins/*metabolism
Peptide Fragments/*metabolism
Receptor, Adenosine A1/*metabolism
Receptor, Cannabinoid, CB1/*metabolism
Allosteric Regulation/drug effects ; Allosteric Regulation/physiology ; Chromogranins/pharmacology ; Dose-Response Relationship, Drug ; GTP-Binding Protein alpha Subunits, Gq-G11/pharmacology ; GTP-Binding Protein alpha Subunits, Gs/pharmacology ; HEK293 Cells ; Humans ; Intracellular Signaling Peptides and Proteins/pharmacology ; Peptide Fragments/pharmacology

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Skocz do pozycji: 10.

Tytuł:: Structural basis of G s and G i recognition by the human glucagon receptor.
Autorzy:: Qiao A; CAS Key Laboratory of Receptor Research, Shanghai Institute of Materia Medica, Chinese Academy of Sciences, Shanghai 201203, China.; State Key Laboratory of Drug Research, Shanghai Institute of Materia Medica, Chinese Academy of Sciences, Shanghai 201203, China.; University of Chinese Academy of Sciences, Beijing 100049, China.
Han S; CAS Key Laboratory of Receptor Research, Shanghai Institute of Materia Medica, Chinese Academy of Sciences, Shanghai 201203, China.; State Key Laboratory of Drug Research, Shanghai Institute of Materia Medica, Chinese Academy of Sciences, Shanghai 201203, China.
Li X; University of Chinese Academy of Sciences, Beijing 100049, China.; National Laboratory of Biomacromolecules, National Center of Protein Science-Beijing, CAS Center for Excellence in Biomacromolecules, Institute of Biophysics, Chinese Academy of Sciences, Beijing 100101, China.
Li Z; School of Pharmacy, Fudan University, Shanghai 201203, China.
Zhao P; Drug Discovery Biology and Department of Pharmacology, Monash Institute of Pharmaceutical Sciences, Monash University, Parkville, Victoria 3052, Australia.
Dai A; CAS Key Laboratory of Receptor Research, Shanghai Institute of Materia Medica, Chinese Academy of Sciences, Shanghai 201203, China.; National Center for Drug Screening, Shanghai Institute of Materia Medica, Chinese Academy of Sciences, Shanghai 201203, China.
Chang R; School of Pharmacy, Fudan University, Shanghai 201203, China.
Tai L; University of Chinese Academy of Sciences, Beijing 100049, China.; National Laboratory of Biomacromolecules, National Center of Protein Science-Beijing, CAS Center for Excellence in Biomacromolecules, Institute of Biophysics, Chinese Academy of Sciences, Beijing 100101, China.
Tan Q; CAS Key Laboratory of Receptor Research, Shanghai Institute of Materia Medica, Chinese Academy of Sciences, Shanghai 201203, China.; State Key Laboratory of Drug Research, Shanghai Institute of Materia Medica, Chinese Academy of Sciences, Shanghai 201203, China.
Chu X; CAS Key Laboratory of Receptor Research, Shanghai Institute of Materia Medica, Chinese Academy of Sciences, Shanghai 201203, China.; State Key Laboratory of Drug Research, Shanghai Institute of Materia Medica, Chinese Academy of Sciences, Shanghai 201203, China.
Ma L; CAS Key Laboratory of Receptor Research, Shanghai Institute of Materia Medica, Chinese Academy of Sciences, Shanghai 201203, China.; State Key Laboratory of Drug Research, Shanghai Institute of Materia Medica, Chinese Academy of Sciences, Shanghai 201203, China.
Thorsen TS; Novo Nordisk A/S, Måløv 2760, Denmark.
Reedtz-Runge S; Novo Nordisk A/S, Måløv 2760, Denmark.
Yang D; CAS Key Laboratory of Receptor Research, Shanghai Institute of Materia Medica, Chinese Academy of Sciences, Shanghai 201203, China.; National Center for Drug Screening, Shanghai Institute of Materia Medica, Chinese Academy of Sciences, Shanghai 201203, China.
Wang MW; CAS Key Laboratory of Receptor Research, Shanghai Institute of Materia Medica, Chinese Academy of Sciences, Shanghai 201203, China.; University of Chinese Academy of Sciences, Beijing 100049, China.; School of Pharmacy, Fudan University, Shanghai 201203, China.; National Center for Drug Screening, Shanghai Institute of Materia Medica, Chinese Academy of Sciences, Shanghai 201203, China.; School of Life Science and Technology, ShanghaiTech University, Shanghai 201210, China.
Sexton PM; School of Pharmacy, Fudan University, Shanghai 201203, China.; Drug Discovery Biology and Department of Pharmacology, Monash Institute of Pharmaceutical Sciences, Monash University, Parkville, Victoria 3052, Australia.
Wootten D; School of Pharmacy, Fudan University, Shanghai 201203, China. .; Drug Discovery Biology and Department of Pharmacology, Monash Institute of Pharmaceutical Sciences, Monash University, Parkville, Victoria 3052, Australia.
Sun F; University of Chinese Academy of Sciences, Beijing 100049, China. .; National Laboratory of Biomacromolecules, National Center of Protein Science-Beijing, CAS Center for Excellence in Biomacromolecules, Institute of Biophysics, Chinese Academy of Sciences, Beijing 100101, China.; Center for Biological Imaging, Institute of Biophysics, Chinese Academy of Sciences, Beijing 100101, China.
Zhao Q; State Key Laboratory of Drug Research, Shanghai Institute of Materia Medica, Chinese Academy of Sciences, Shanghai 201203, China. .; University of Chinese Academy of Sciences, Beijing 100049, China.; CAS Center for Excellence in Biomacromolecules, Chinese Academy of Sciences, Beijing 100101, China.
Wu B; CAS Key Laboratory of Receptor Research, Shanghai Institute of Materia Medica, Chinese Academy of Sciences, Shanghai 201203, China. .; University of Chinese Academy of Sciences, Beijing 100049, China.; School of Life Science and Technology, ShanghaiTech University, Shanghai 201210, China.; CAS Center for Excellence in Biomacromolecules, Chinese Academy of Sciences, Beijing 100101, China.; Pokaż więcej
Źródło:: Science (New York, N.Y.) [Science] 2020 Mar 20; Vol. 367 (6484), pp. 1346-1352.
Typ publikacji:: Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:: GTP-Binding Protein alpha Subunits, Gi-Go/*chemistry
GTP-Binding Protein alpha Subunits, Gs/*chemistry
Glucagon/*chemistry
Receptors, Glucagon/*chemistry
Binding Sites ; Cryoelectron Microscopy ; GTP-Binding Protein alpha Subunits, Gi-Go/metabolism ; GTP-Binding Protein alpha Subunits, Gi-Go/ultrastructure ; GTP-Binding Protein alpha Subunits, Gs/metabolism ; GTP-Binding Protein alpha Subunits, Gs/ultrastructure ; Glucagon/metabolism ; Humans ; Models, Molecular ; Protein Binding ; Protein Conformation ; Protein Conformation, alpha-Helical ; Receptors, Glucagon/metabolism ; Receptors, Glucagon/ultrastructure ; Signal Transduction

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Skocz do pozycji: 11.

Tytuł:: Impaired iloprost-induced platelet inhibition and phosphoproteome changes in patients with confirmed pseudohypoparathyroidism type Ia, linked to genetic mutations in GNAS.
Autorzy:: Swieringa F; Department of Protein Dynamics, Leibniz Institute for Analytical Sciences-ISAS-E.V., Dortmund, Germany.; Department of Biochemistry, CARIM, Maastricht University, PO Box 616, 6200 MD, Maastricht, The Netherlands.
Solari FA; Department of Protein Dynamics, Leibniz Institute for Analytical Sciences-ISAS-E.V., Dortmund, Germany.
Pagel O; Department of Protein Dynamics, Leibniz Institute for Analytical Sciences-ISAS-E.V., Dortmund, Germany.
Beck F; Department of Protein Dynamics, Leibniz Institute for Analytical Sciences-ISAS-E.V., Dortmund, Germany.
Huang J; Department of Protein Dynamics, Leibniz Institute for Analytical Sciences-ISAS-E.V., Dortmund, Germany.; Department of Biochemistry, CARIM, Maastricht University, PO Box 616, 6200 MD, Maastricht, The Netherlands.
Feijge MAH; Department of Biochemistry, CARIM, Maastricht University, PO Box 616, 6200 MD, Maastricht, The Netherlands.
Jurk K; Center for Thrombosis and Haemostasis (CTH), University of Mainz, Mainz, Germany.
Körver-Keularts IMLW; Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, The Netherlands.
Mattheij NJA; Department of Biochemistry, CARIM, Maastricht University, PO Box 616, 6200 MD, Maastricht, The Netherlands.
Faber J; Sections of Pediatric Hematology and Endocrinology, Haemostaseology, Children's Hospital, University Medical Center of Johannes Gutenberg University Mainz, Mainz, Germany.
Pohlenz J; Sections of Pediatric Hematology and Endocrinology, Haemostaseology, Children's Hospital, University Medical Center of Johannes Gutenberg University Mainz, Mainz, Germany.
Russo A; Sections of Pediatric Hematology and Endocrinology, Haemostaseology, Children's Hospital, University Medical Center of Johannes Gutenberg University Mainz, Mainz, Germany.
Stumpel CTRM; Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, The Netherlands.; GROW-School for Oncology and Developmental Biology, Maastricht University Medical Centre, Maastricht, The Netherlands.
Schrander DE; Department of Orthopedic Surgery and CAPHRI (Care and Public Health Research Institute), Maastricht University Medical Centre, Maastricht, The Netherlands.
Zieger B; Division of Pediatric Hematology and Oncology, Department of Pediatrics and Adolescent Medicine, Faculty of Medicine, Medical Center-University of Freiburg, University of Freiburg, Freiburg, Germany.
van der Meijden PEJ; Department of Biochemistry, CARIM, Maastricht University, PO Box 616, 6200 MD, Maastricht, The Netherlands.
Zahedi RP; Department of Protein Dynamics, Leibniz Institute for Analytical Sciences-ISAS-E.V., Dortmund, Germany.
Sickmann A; Department of Protein Dynamics, Leibniz Institute for Analytical Sciences-ISAS-E.V., Dortmund, Germany.
Heemskerk JWM; Department of Biochemistry, CARIM, Maastricht University, PO Box 616, 6200 MD, Maastricht, The Netherlands. .; Pokaż więcej
Źródło:: Scientific reports [Sci Rep] 2020 Jul 09; Vol. 10 (1), pp. 11389. Date of Electronic Publication: 2020 Jul 09.
Typ publikacji:: Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:: Blood Platelets/*metabolism
Chromogranins/*genetics
GTP-Binding Protein alpha Subunits, Gs/*genetics
Iloprost/*pharmacology
Pseudohypoparathyroidism/*diagnosis
Biomarkers/metabolism ; Blood Platelets/drug effects ; Cell Adhesion Molecules/metabolism ; Child ; Chromogranins/metabolism ; Cyclic AMP-Dependent Protein Kinases/metabolism ; Drug Resistance/genetics ; Epigenesis, Genetic ; Female ; GTP-Binding Protein alpha Subunits, Gs/metabolism ; Humans ; Iloprost/therapeutic use ; Male ; Microfilament Proteins/metabolism ; Mutation ; Phosphoproteins/metabolism ; Phosphorylation ; Platelet Aggregation/drug effects ; Platelet Aggregation/genetics ; Proteome/metabolism ; Proteomics ; Pseudohypoparathyroidism/blood ; Pseudohypoparathyroidism/genetics

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Skocz do pozycji: 12.

Tytuł:: Prevalence of Chiari malformation type 1 is increased in pseudohypoparathyroidism type 1A and associated with aberrant bone development.
Autorzy:: Krishnan N; Department of Pediatrics, Division of Pediatric Endocrinology & Diabetes, University of Connecticut School of Medicine, Farmington, Connecticut, United States of America.; Albright Center, Division of Pediatric Endocrinology & Diabetes, Connecticut Children's, Farmington, Connecticut, United States of America.
McMullan P; Department of Pediatrics, Division of Pediatric Endocrinology & Diabetes, University of Connecticut School of Medicine, Farmington, Connecticut, United States of America.; Department of Reconstructive Sciences, Center for Regenerative Medicine and Skeletal Development, University of Connecticut School of Dental Medicine, Farmington, Connecticut, United States of America.
Yang Q; Department of Pediatrics, Division of Pediatric Endocrinology & Diabetes, University of Connecticut School of Medicine, Farmington, Connecticut, United States of America.; Department of Reconstructive Sciences, Center for Regenerative Medicine and Skeletal Development, University of Connecticut School of Dental Medicine, Farmington, Connecticut, United States of America.
Buscarello AN; Albright Center, Division of Pediatric Endocrinology & Diabetes, Connecticut Children's, Farmington, Connecticut, United States of America.
Germain-Lee EL; Department of Pediatrics, Division of Pediatric Endocrinology & Diabetes, University of Connecticut School of Medicine, Farmington, Connecticut, United States of America.; Albright Center, Division of Pediatric Endocrinology & Diabetes, Connecticut Children's, Farmington, Connecticut, United States of America.; Department of Reconstructive Sciences, Center for Regenerative Medicine and Skeletal Development, University of Connecticut School of Dental Medicine, Farmington, Connecticut, United States of America.; Pokaż więcej
Źródło:: PloS one [PLoS One] 2023 Jan 20; Vol. 18 (1), pp. e0280463. Date of Electronic Publication: 2023 Jan 20 (Print Publication: 2023).
Typ publikacji:: Journal Article; Research Support, N.I.H., Extramural; Research Support, U.S. Gov't, P.H.S.; Research Support, Non-U.S. Gov't
MeSH Terms:: Pseudohypoparathyroidism*/epidemiology
Pseudohypoparathyroidism*/genetics
Pseudohypoparathyroidism*/complications
Arnold-Chiari Malformation*/diagnostic imaging
Arnold-Chiari Malformation*/epidemiology
Arnold-Chiari Malformation*/genetics
Humans ; Animals ; Mice ; Prevalence ; GTP-Binding Protein alpha Subunits, Gs/genetics ; Bone Development ; Genotype ; Chromogranins/genetics

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Skocz do pozycji: 13.

Tytuł:: Central Precocious Puberty in a Boy with Pseudohypoparathyroidism Type 1A due to a Novel GNAS Variant, with Congenital Hypothyroidism as the First Manifestation
Autorzy:: Wankanit S; Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand
Mahachoklertwattana P; Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand
Tim-Aroon T; Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand
Sorapipatcharoen K; Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand
Poomthavorn P; Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand; Pokaż więcej
Źródło:: Journal of clinical research in pediatric endocrinology [J Clin Res Pediatr Endocrinol] 2022 Dec 01; Vol. 14 (4), pp. 485-489. Date of Electronic Publication: 2021 Jul 30.
Typ publikacji:: Case Reports; Journal Article
MeSH Terms:: Congenital Hypothyroidism*/genetics
Congenital Hypothyroidism*/complications
Puberty, Precocious*/genetics
Puberty, Precocious*/complications
Pseudohypoparathyroidism*/complications
Pseudohypoparathyroidism*/diagnosis
Pseudohypoparathyroidism*/genetics
Pediatric Obesity*/complications
Male ; Child, Preschool ; Humans ; Chromogranins/genetics ; GTP-Binding Protein alpha Subunits, Gs/genetics ; Parathyroid Hormone

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Tytuł:: Changes in gene expression in human skeletal stem cells transduced with constitutively active Gsα correlates with hallmark histopathological changes seen in fibrous dysplastic bone.
Autorzy:: Raimondo D; Department of Molecular Medicine, Sapienza University of Rome, Rome, Italy.
Remoli C; Department of Molecular Medicine, Sapienza University of Rome, Rome, Italy.
Astrologo L; Department of Biology and Biotechnology, Sapienza University of Rome, Rome, Italy.
Burla R; Department of Biology and Biotechnology, Sapienza University of Rome, Rome, Italy.
La Torre M; Department of Biology and Biotechnology, Sapienza University of Rome, Rome, Italy.
Vernì F; Department of Biology and Biotechnology, Sapienza University of Rome, Rome, Italy.
Tagliafico E; Department of Biomedical Sciences, University of Modena and Reggio Emilia, Modena, Italy.
Corsi A; Department of Molecular Medicine, Sapienza University of Rome, Rome, Italy.
Del Giudice S; Department of Biology and Biotechnology, Sapienza University of Rome, Rome, Italy.
Persichetti A; Department of Molecular Medicine, Sapienza University of Rome, Rome, Italy.
Giannicola G; Department of Anatomical, Histological, Forensic Medicine and Orthopaedics Sciences, Sapienza University of Rome, Rome, Italy.
Robey PG; National Institute of Dental and Craniofacial Research, NIH, DHHS, Bethesda, MD, United States of America.
Riminucci M; Department of Molecular Medicine, Sapienza University of Rome, Rome, Italy.
Saggio I; Department of Biology and Biotechnology, Sapienza University of Rome, Rome, Italy.; School of Biological Sciences, NTU Institute of Structural Biology, Nanyang Technological University, Singapore.; Pokaż więcej
Źródło:: PloS one [PLoS One] 2020 Jan 30; Vol. 15 (1), pp. e0227279. Date of Electronic Publication: 2020 Jan 30 (Print Publication: 2020).
Typ publikacji:: Journal Article; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't
MeSH Terms:: Bone Marrow Cells/*physiology
Cell Differentiation/*genetics
Chromogranins/*genetics
Fibrous Dysplasia of Bone/*pathology
GTP-Binding Protein alpha Subunits, Gs/*genetics
Stem Cells/*physiology
ADAM Proteins/metabolism ; Adipogenesis/genetics ; Adipose Tissue, White/metabolism ; CCAAT-Enhancer-Binding Proteins/metabolism ; Cells, Cultured ; Chromogranins/metabolism ; Computer Simulation ; Cyclic Nucleotide Phosphodiesterases, Type 7/metabolism ; Datasets as Topic ; Fibrous Dysplasia of Bone/genetics ; GTP-Binding Protein alpha Subunits, Gs/metabolism ; Gain of Function Mutation ; Gene Expression Profiling ; Healthy Volunteers ; Humans ; Oligonucleotide Array Sequence Analysis ; Osteoblasts/metabolism ; Osteogenesis/genetics ; Primary Cell Culture ; Recombinant Proteins/genetics ; Recombinant Proteins/metabolism ; Stromal Cells/physiology ; Up-Regulation

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Skocz do pozycji: 15.

Tytuł:: β 2 -Adrenoceptor agonist profiling reveals biased signalling phenotypes for the β 2 -adrenoceptor with possible implications for the treatment of asthma.
Autorzy:: De Pascali F; Department of Biochemistry and Molecular Biology, Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, Pennsylvania, USA.
Ippolito M; Department of Biochemistry and Molecular Biology, Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, Pennsylvania, USA.
Wolfe E; Rutgers Institute for Translational Medicine and Science, New Brunswick, New Jersey and Department of Pharmacology, Rutgers-Robert Wood Johnson Medical School, The State University of New Jersey, Piscataway, New Jersey, USA.
Komolov KE; Department of Biochemistry and Molecular Biology, Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, Pennsylvania, USA.
Hopfinger N; Department of Biochemistry and Molecular Biology, Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, Pennsylvania, USA.
Lemenze D; Rutgers Institute for Translational Medicine and Science, New Brunswick, New Jersey and Department of Pharmacology, Rutgers-Robert Wood Johnson Medical School, The State University of New Jersey, Piscataway, New Jersey, USA.
Kim N; Rutgers Institute for Translational Medicine and Science, New Brunswick, New Jersey and Department of Pharmacology, Rutgers-Robert Wood Johnson Medical School, The State University of New Jersey, Piscataway, New Jersey, USA.
Armen RS; Department of Pharmaceutical Sciences, College of Pharmacy, Thomas Jefferson University, Philadelphia, Pennsylvania, USA.
An SS; Rutgers Institute for Translational Medicine and Science, New Brunswick, New Jersey and Department of Pharmacology, Rutgers-Robert Wood Johnson Medical School, The State University of New Jersey, Piscataway, New Jersey, USA.
Scott CP; Department of Biochemistry and Molecular Biology, Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, Pennsylvania, USA.
Benovic JL; Department of Biochemistry and Molecular Biology, Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, Pennsylvania, USA.; Pokaż więcej
Źródło:: British journal of pharmacology [Br J Pharmacol] 2022 Oct; Vol. 179 (19), pp. 4692-4708. Date of Electronic Publication: 2022 Jul 19.
Typ publikacji:: Journal Article; Research Support, N.I.H., Extramural
MeSH Terms:: Asthma*/drug therapy
Receptors, Adrenergic, beta-2*/metabolism
Adrenergic beta-Agonists/pharmacology ; GTP-Binding Protein alpha Subunits, Gs/metabolism ; Humans ; Phenotype ; Signal Transduction ; beta-Arrestin 1/metabolism ; beta-Arrestins/metabolism ; beta-Arrestins/pharmacology

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Skocz do pozycji: 16.

Tytuł:: A recurrent somatic missense mutation in GNAS gene identified in familial thyroid follicular cell carcinomas in German longhaired pointer dogs.
Autorzy:: Yu Y; Animal Breeding and Genomics, Wageningen University & Research, Droevendaalsesteeg 1, 6708 PB, Wageningen, The Netherlands.
Manders F; Princess Máxima Center for Pediatric Oncology, Heidelberglaan 25, 3584CS, Utrecht, The Netherlands.
Grinwis GCM; Department of Biomolecular Health Sciences, Division of Pathology, Faculty of Veterinary Medicine, Utrecht University, Yalelaan 1, Utrecht, The Netherlands.
Groenen MAM; Animal Breeding and Genomics, Wageningen University & Research, Droevendaalsesteeg 1, 6708 PB, Wageningen, The Netherlands.
Crooijmans RPMA; Animal Breeding and Genomics, Wageningen University & Research, Droevendaalsesteeg 1, 6708 PB, Wageningen, The Netherlands. .; Pokaż więcej
Źródło:: BMC genomics [BMC Genomics] 2022 Sep 23; Vol. 23 (1), pp. 669. Date of Electronic Publication: 2022 Sep 23.
Typ publikacji:: Journal Article
MeSH Terms:: Carcinoma*
Thyroid Epithelial Cells*
Thyroid Neoplasms*/genetics
Thyroid Neoplasms*/veterinary
Animals ; Chromogranins/genetics ; Dogs ; GTP-Binding Protein alpha Subunits, Gs/genetics ; Humans ; Mutation ; Mutation, Missense

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Skocz do pozycji: 17.

Tytuł:: Different AHO phenotype in a Chinese family with a novel GNAS missense variant: a case report.
Autorzy:: Zhou Q; Department of Endocrinology and Inborn Metabolic Diseases, Fujian Maternity and Child Health Hospital, Fujian Province, Fuzhou, 350000, China.
Liang B; Medical Genetic Diagnosis and Therapy Center, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fujian Maternity and Child Health Hospital, Fuzhou, China.
Fu QX; Department of Endocrinology and Inborn Metabolic Diseases, Fujian Children's Hospital, College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, Fuzhou, China.
Liu H; Department of Endocrinology and Inborn Metabolic Diseases, Fujian Maternity and Child Health Hospital, Fujian Province, Fuzhou, 350000, China. .
Zou CC; Department of Endocrinology, Children's Hospital of Zhejiang University School of Medicine, Zhejiang Province, Hangzhou, 310000, China. .; Pokaż więcej
Źródło:: Italian journal of pediatrics [Ital J Pediatr] 2022 Jul 23; Vol. 48 (1), pp. 123. Date of Electronic Publication: 2022 Jul 23.
Typ publikacji:: Case Reports; Journal Article
MeSH Terms:: Chromogranins*/genetics
Pseudohypoparathyroidism*/diagnosis
Pseudohypoparathyroidism*/genetics
China ; GTP-Binding Protein alpha Subunits, Gs/genetics ; Hormones ; Humans ; Phenotype

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Skocz do pozycji: 18.

Tytuł:: The structure of a membrane adenylyl cyclase bound to an activated stimulatory G protein.
Autorzy:: Qi C; Institute of Biochemistry, ETH Zurich, Zurich, Switzerland.; Laboratory of Biomolecular Research, Division of Biology and Chemistry, Paul Scherrer Institute, Villigen, Switzerland.
Sorrentino S; Institute of Biochemistry, University of Zurich, Zurich, Switzerland.
Medalia O; Institute of Biochemistry, University of Zurich, Zurich, Switzerland.; Department of Life Sciences and the National Institute for Biotechnology in the Negev, Ben Gurion University of the Negev, Beer-Sheva, Israel.
Korkhov VM; Institute of Biochemistry, ETH Zurich, Zurich, Switzerland. .; Laboratory of Biomolecular Research, Division of Biology and Chemistry, Paul Scherrer Institute, Villigen, Switzerland.; Pokaż więcej
Źródło:: Science (New York, N.Y.) [Science] 2019 Apr 26; Vol. 364 (6438), pp. 389-394.
Typ publikacji:: Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:: Adenylyl Cyclases/*chemistry
Cell Membrane/*enzymology
GTP-Binding Protein alpha Subunits, Gs/*chemistry
Membrane Proteins/*chemistry
Adenylyl Cyclases/ultrastructure ; Animals ; Catalytic Domain ; Cattle ; Cryoelectron Microscopy ; Cyclic AMP/chemistry ; GTP-Binding Protein alpha Subunits, Gs/ultrastructure ; Membrane Proteins/ultrastructure ; Signal Transduction

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Skocz do pozycji: 19.

Tytuł:: Clinical and genetic analysis of pseudohypoparathyroidism complicated by hypokalemia: a case report and review of the literature.
Autorzy:: Huang S; Department of endocrinology, Sir Run Run Shaw Hospital, Zhejiang University School of Medicine, Hangzhou, China.
He Y; Department of endocrinology, Sir Run Run Shaw Hospital, Zhejiang University School of Medicine, Hangzhou, China.
Lin X; Department of endocrinology, Sir Run Run Shaw Hospital, Zhejiang University School of Medicine, Hangzhou, China.
Sun S; Department of endocrinology, Sir Run Run Shaw Hospital, Zhejiang University School of Medicine, Hangzhou, China.
Zheng F; Department of endocrinology, Sir Run Run Shaw Hospital, Zhejiang University School of Medicine, Hangzhou, China. .; Pokaż więcej
Źródło:: BMC endocrine disorders [BMC Endocr Disord] 2022 Apr 11; Vol. 22 (1), pp. 98. Date of Electronic Publication: 2022 Apr 11.
Typ publikacji:: Case Reports; Journal Article; Review
MeSH Terms:: Hypocalcemia*/genetics
Hypokalemia*/genetics
Pseudohypoparathyroidism*/complications
Pseudohypoparathyroidism*/diagnosis
Pseudohypoparathyroidism*/genetics
Tetany*
Adult ; Chromogranins/genetics ; Female ; GTP-Binding Protein alpha Subunits, Gs/genetics ; Humans

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Tytuł:: Evaluating the variety of GNAS inactivation disorders and their clinical manifestations in 11 Chinese children.
Autorzy:: Chang G; Department of Endocrinology and Metabolism, Shanghai Children's Medical Center, School of Medicine, Shanghai Jiao Tong University, 1678 Dongfang Road, Shanghai, 200127, China.
Li Q; Department of Endocrinology and Metabolism, Shanghai Children's Medical Center, School of Medicine, Shanghai Jiao Tong University, 1678 Dongfang Road, Shanghai, 200127, China.
Li N; Department of Medical Genetics and Molecular Diagnostics Laboratory, Shanghai Children's Medical Center, School of Medicine, Shanghai Jiao Tong University, 1678 Dongfang Road, Shanghai, 200127, China.
Li G; Department of Medical Genetics and Molecular Diagnostics Laboratory, Shanghai Children's Medical Center, School of Medicine, Shanghai Jiao Tong University, 1678 Dongfang Road, Shanghai, 200127, China.
Li J; Department of Endocrinology and Metabolism, Shanghai Children's Medical Center, School of Medicine, Shanghai Jiao Tong University, 1678 Dongfang Road, Shanghai, 200127, China.
Ding Y; Department of Endocrinology and Metabolism, Shanghai Children's Medical Center, School of Medicine, Shanghai Jiao Tong University, 1678 Dongfang Road, Shanghai, 200127, China.
Huang X; Department of Endocrinology and Metabolism, Shanghai Children's Medical Center, School of Medicine, Shanghai Jiao Tong University, 1678 Dongfang Road, Shanghai, 200127, China.
Shen Y; Department of Endocrinology and Metabolism, Shanghai Children's Medical Center, School of Medicine, Shanghai Jiao Tong University, 1678 Dongfang Road, Shanghai, 200127, China.
Wang J; Department of Medical Genetics and Molecular Diagnostics Laboratory, Shanghai Children's Medical Center, School of Medicine, Shanghai Jiao Tong University, 1678 Dongfang Road, Shanghai, 200127, China. .
Wang X; Department of Endocrinology and Metabolism, Shanghai Children's Medical Center, School of Medicine, Shanghai Jiao Tong University, 1678 Dongfang Road, Shanghai, 200127, China. .; Pokaż więcej
Źródło:: BMC endocrine disorders [BMC Endocr Disord] 2022 Mar 16; Vol. 22 (1), pp. 70. Date of Electronic Publication: 2022 Mar 16.
Typ publikacji:: Journal Article
MeSH Terms:: Bone Diseases, Metabolic*/diagnosis
Bone Diseases, Metabolic*/genetics
Bone Diseases, Metabolic*/pathology
Ossification, Heterotopic*/diagnosis
Ossification, Heterotopic*/genetics
Ossification, Heterotopic*/pathology
Pseudohypoparathyroidism*/diagnosis
Pseudohypoparathyroidism*/genetics
Pseudohypoparathyroidism*/pathology
Skin Diseases, Genetic*/diagnosis
Skin Diseases, Genetic*/genetics
Skin Diseases, Genetic*/pathology
Chromogranins/*genetics
GTP-Binding Protein alpha Subunits, Gs/*genetics
Adolescent ; Child ; Child, Preschool ; China ; Female ; Humans ; Infant ; Male ; Pseudopseudohypoparathyroidism/diagnosis ; Pseudopseudohypoparathyroidism/genetics ; Pseudopseudohypoparathyroidism/pathology
SCR Disease Name:: Osseous Heteroplasia, Progressive

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