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Tytuł:
Examining the Association of Rare Allelic Variants in Urate Transporters SLC22A11 , SLC22A13 , and SLC17A1 with Hyperuricemia and Gout.
Autorzy:
Vávra J; Department of Cell Biology, Faculty of Science, Charles University, Prague, Czech Republic.
Pavelcová K; Institute of Rheumatology, Prague, Czech Republic.
Mašínová J; Institute of Rheumatology, Prague, Czech Republic.
Hasíková L; Institute of Rheumatology, Prague, Czech Republic.
Bubeníková E; Institute of Rheumatology, Prague, Czech Republic.; Department of Rheumatology, First Faculty of Medicine, Charles University, Prague, Czech Republic.
Urbanová A; 1st Department of Medicine, Department of Hematology; First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.
Mančíková A; Department of Staphylococcal and Food-Borne Bacterial Infections, The National Institute of Public Health, Prague, Czech Republic.
Stibůrková B; Institute of Rheumatology, Prague, Czech Republic.; Department of Rheumatology, First Faculty of Medicine, Charles University, Prague, Czech Republic.; Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic.
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Źródło:
Disease markers [Dis Markers] 2024 Jan 06; Vol. 2024, pp. 5930566. Date of Electronic Publication: 2024 Jan 06 (Print Publication: 2024).
Typ publikacji:
Journal Article
MeSH Terms:
Gout*/genetics
Hyperuricemia*/genetics
Organic Anion Transporters*/genetics
Organic Anion Transporters, Sodium-Independent*/genetics
Sodium-Phosphate Cotransporter Proteins, Type I*/genetics
Humans ; Uric Acid/metabolism
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Biallelic and monoallelic pathogenic variants in CYP24A1 and SLC34A1 genes cause idiopathic infantile hypercalcemia.
Autorzy:
Wang Q; Department of Endocrinology, Genetics and Metabolism, Beijing Children's Hospital, 56# Nan Lishi Road, west district, Beijing, 100045, China.
Chen JJ; Department of Endocrinology, Genetics and Metabolism, Beijing Children's Hospital, 56# Nan Lishi Road, west district, Beijing, 100045, China.
Wei LY; Department of Endocrinology, Genetics and Metabolism, Beijing Children's Hospital, 56# Nan Lishi Road, west district, Beijing, 100045, China.
Ding Y; Department of Endocrinology, Genetics and Metabolism, Beijing Children's Hospital, 56# Nan Lishi Road, west district, Beijing, 100045, China.
Liu M; Department of Endocrinology, Genetics and Metabolism, Beijing Children's Hospital, 56# Nan Lishi Road, west district, Beijing, 100045, China.
Li WJ; Department of Endocrinology, Genetics and Metabolism, Beijing Children's Hospital, 56# Nan Lishi Road, west district, Beijing, 100045, China.
Su C; Department of Endocrinology, Genetics and Metabolism, Beijing Children's Hospital, 56# Nan Lishi Road, west district, Beijing, 100045, China.
Gong CX; Department of Endocrinology, Genetics and Metabolism, Beijing Children's Hospital, 56# Nan Lishi Road, west district, Beijing, 100045, China. .
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Źródło:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Mar 19; Vol. 19 (1), pp. 126. Date of Electronic Publication: 2024 Mar 19.
Typ publikacji:
Journal Article
MeSH Terms:
Hypercalcemia*/genetics
Infant, Newborn, Diseases*
Metabolism, Inborn Errors*
Nephrocalcinosis*/genetics
Child ; Humans ; Hypercalciuria/genetics ; Mutation/genetics ; Retrospective Studies ; Sodium-Phosphate Cotransporter Proteins, Type IIa/genetics ; Vitamin D3 24-Hydroxylase/genetics ; Vitamin D3 24-Hydroxylase/metabolism
SCR Disease Name:
Hypercalcemia, Idiopathic, of Infancy
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
A Novel Heterozygous Mutation c.1627G>T (p.Gly543Cys) in the SLC34A1 Gene in a Male Patient with Recurrent Nephrolithiasis and Early Onset Osteopenia: A Case Report.
Autorzy:
Giusti F; Donatello Bone Clinic, Villa Donatello Hospital, 50019 Sesto Fiorentino, Italy.; Department of Experimental and Clinical Biomedical Sciences, University of Florence, 50139 Florence, Italy.
Marini F; Fondazione FIRMO Onlus, Italian Foundation for the Research on Bone Diseases, 50129 Florence, Italy.
Al-Alwani H; Divisions of Endocrinology and Metabolism and Geriatrics, McMaster University, Hamilton, ON L8S 4L8, Canada.
Marasco E; Personal Genomics SRL, 37136 Verona, Italy.
Garagnani P; Personal Genomics SRL, 37136 Verona, Italy.; Department of Medical and Surgical Sciences (DIMEC), Alma Mater Studiorum University of Bologna, 40126 Bologna, Italy.; IRCCS Azienda Ospedaliero-Universitaria di Bologna, 40138 Bologna, Italy.
Khan AA; Divisions of Endocrinology and Metabolism and Geriatrics, McMaster University, Hamilton, ON L8S 4L8, Canada.
Brandi ML; Donatello Bone Clinic, Villa Donatello Hospital, 50019 Sesto Fiorentino, Italy.; Fondazione FIRMO Onlus, Italian Foundation for the Research on Bone Diseases, 50129 Florence, Italy.; IRCCS San Raffaele Hospital, 20132 Milano, Italy.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2023 Dec 09; Vol. 24 (24). Date of Electronic Publication: 2023 Dec 09.
Typ publikacji:
Case Reports
MeSH Terms:
Nephrolithiasis*/complications
Nephrolithiasis*/genetics
Osteoporosis*
Familial Hypophosphatemic Rickets*/genetics
Humans ; Male ; Adult ; Mutation ; Phosphates/metabolism ; Sodium-Phosphate Cotransporter Proteins/genetics ; Sodium ; Sodium-Phosphate Cotransporter Proteins, Type IIa
SCR Disease Name:
Nephrolithiasis-Osteoporosis, Hypophosphatemic, 1; Nephrolithiasis, X-Linked Recessive, with Renal Failure
Raport
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Relationship between clinical phenotype and in vitro analysis of 13 NPT2c/SCL34A3 mutants.
Autorzy:
Brazier F; Université de Paris Cité, Faculté de Médecine, INSERM U1151, Paris, France.; Département de Physiologie, hôpital Necker Assistance Publique Hôpitaux de Paris, Paris, France.
Courbebaisse M; Université de Paris Cité, Faculté de Médecine, INSERM U1151, Paris, France.; Service de Physiologie, hôpital européen Georges Pompidou, Assistance Publique Hôpitaux de Paris, Paris, France.
David A; Université de Paris Cité, Faculté de Médecine, INSERM U1151, Paris, France.
Bergerat D; Université de Paris Cité, Faculté de Médecine, INSERM U1151, Paris, France.
Leroy C; Université de Paris Cité, Faculté de Médecine, INSERM U1151, Paris, France.
Lindner M; Université de Paris Cité, Faculté de Médecine, INSERM U1151, Paris, France.
Maruani G; Département de Physiologie, hôpital Necker Assistance Publique Hôpitaux de Paris, Paris, France.; Service de Physiologie, hôpital européen Georges Pompidou, Assistance Publique Hôpitaux de Paris, Paris, France.
Saint Jacques C; Service d'Explorations fonctionnelles multidisciplinaires, hôpital Tenon, Assistance Publique Hôpitaux de Paris, Paris, France.; Université Paris Sorbonne, Paris, France.
Letavernier E; Service d'Explorations fonctionnelles multidisciplinaires, hôpital Tenon, Assistance Publique Hôpitaux de Paris, Paris, France.; Université Paris Sorbonne, Paris, France.
Hureaux M; Service de Génétique, hôpital européen Georges Pompidou, Assistance Publique Hôpitaux de Paris, 75015, Paris, France.; Université de Paris Cité, Faculté de médecine, INSERM U970, Paris, France.
Vargas-Poussou R; Service de Génétique, hôpital européen Georges Pompidou, Assistance Publique Hôpitaux de Paris, 75015, Paris, France.
Prié D; Université de Paris Cité, Faculté de Médecine, INSERM U1151, Paris, France. .; Département de Physiologie, hôpital Necker Assistance Publique Hôpitaux de Paris, Paris, France. .
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Źródło:
Scientific reports [Sci Rep] 2023 Jan 03; Vol. 13 (1), pp. 85. Date of Electronic Publication: 2023 Jan 03.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Familial Hypophosphatemic Rickets*/genetics
Familial Hypophosphatemic Rickets*/pathology
Sodium-Phosphate Cotransporter Proteins, Type IIc*
Animals ; Humans ; Mice ; Kidney/metabolism ; Mutation ; Phenotype ; Phosphates/metabolism
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Acute adaptation of renal phosphate transporters in the murine kidney to oral phosphate intake requires multiple signals.
Autorzy:
Daryadel A; Institute of Physiology, University of Zürich, Zürich, Switzerland.; National Center of Competence in Research Kidney.CH, Zürich, Switzerland.
Haykir B; Institute of Physiology, University of Zürich, Zürich, Switzerland.
Küng CJ; Institute of Physiology, University of Zürich, Zürich, Switzerland.
Bugarski M; National Center of Competence in Research Kidney.CH, Zürich, Switzerland.; Institute of Anatomy, University of Zürich, Zürich, Switzerland.
Bettoni C; Institute of Physiology, University of Zürich, Zürich, Switzerland.
Schnitzbauer U; Institute of Physiology, University of Zürich, Zürich, Switzerland.
Hernando N; Institute of Physiology, University of Zürich, Zürich, Switzerland.
Hall AM; National Center of Competence in Research Kidney.CH, Zürich, Switzerland.; Institute of Anatomy, University of Zürich, Zürich, Switzerland.
Wagner CA; Institute of Physiology, University of Zürich, Zürich, Switzerland.; National Center of Competence in Research Kidney.CH, Zürich, Switzerland.
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Źródło:
Acta physiologica (Oxford, England) [Acta Physiol (Oxf)] 2022 Jun; Vol. 235 (2), pp. e13815. Date of Electronic Publication: 2022 Apr 06.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Phosphates*/metabolism
Phosphates*/pharmacology
Sodium-Phosphate Cotransporter Proteins, Type IIa*/genetics
Sodium-Phosphate Cotransporter Proteins, Type IIa*/metabolism
Animals ; Dopamine/metabolism ; Fibroblast Growth Factors ; Kidney/metabolism ; Mice ; Parathyroid Hormone/metabolism ; Parathyroid Hormone/pharmacology ; Parathyroid Hormone-Related Protein/metabolism ; Parathyroid Hormone-Related Protein/pharmacology ; Phosphate Transport Proteins/metabolism
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
The human pathogenic 91del7 mutation in SLC34A1 has no effect in mineral homeostasis in mice.
Autorzy:
Bieri C; Institute of Physiology, University of Zurich, Winterthurerstrasse 190, 8057, Zurich, Switzerland.
Daryadel A; Institute of Physiology, University of Zurich, Winterthurerstrasse 190, 8057, Zurich, Switzerland.; National Center of Competence in Research 'NCCR Kidney.CH', University of Zurich, Zurich, Switzerland.
Bettoni C; Institute of Physiology, University of Zurich, Winterthurerstrasse 190, 8057, Zurich, Switzerland.; National Center of Competence in Research 'NCCR Kidney.CH', University of Zurich, Zurich, Switzerland.
Pastor-Arroyo EM; Institute of Physiology, University of Zurich, Winterthurerstrasse 190, 8057, Zurich, Switzerland.
Schnitzbauer U; Institute of Physiology, University of Zurich, Winterthurerstrasse 190, 8057, Zurich, Switzerland.
Hernando N; Institute of Physiology, University of Zurich, Winterthurerstrasse 190, 8057, Zurich, Switzerland.
Wagner CA; Institute of Physiology, University of Zurich, Winterthurerstrasse 190, 8057, Zurich, Switzerland. .; National Center of Competence in Research 'NCCR Kidney.CH', University of Zurich, Zurich, Switzerland. .
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Źródło:
Scientific reports [Sci Rep] 2022 Apr 12; Vol. 12 (1), pp. 6102. Date of Electronic Publication: 2022 Apr 12.
Typ publikacji:
Journal Article
MeSH Terms:
Phosphates*/metabolism
Sodium-Phosphate Cotransporter Proteins, Type IIa*/genetics
Sodium-Phosphate Cotransporter Proteins, Type IIa*/metabolism
Animals ; Fibroblast Growth Factors/genetics ; Fibroblast Growth Factors/metabolism ; Homeostasis ; Humans ; Male ; Mice ; Minerals/metabolism ; Mutation
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Human peritoneal tight junction, transporter and channel expression in health and kidney failure, and associated solute transport.
Autorzy:
Levai E; Division of Pediatric Nephrology, Center for Pediatric and Adolescent Medicine, University Hospital Heidelberg, Im Neuenheimer Feld 430, 69120, Heidelberg, Germany.; Pediatric Center, MTA Center of Excellence, Semmelweis University, Budapest, Hungary.; HUNREN SE Pediatrics and Nephrology Research Group, Budapest, Hungary.
Marinovic I; Division of Pediatric Nephrology, Center for Pediatric and Adolescent Medicine, University Hospital Heidelberg, Im Neuenheimer Feld 430, 69120, Heidelberg, Germany.
Bartosova M; Division of Pediatric Nephrology, Center for Pediatric and Adolescent Medicine, University Hospital Heidelberg, Im Neuenheimer Feld 430, 69120, Heidelberg, Germany.
Zhang C; Division of Pediatric Nephrology, Center for Pediatric and Adolescent Medicine, University Hospital Heidelberg, Im Neuenheimer Feld 430, 69120, Heidelberg, Germany.
Schaefer B; Division of Pediatric Nephrology, Center for Pediatric and Adolescent Medicine, University Hospital Heidelberg, Im Neuenheimer Feld 430, 69120, Heidelberg, Germany.
Jenei H; Division of Pediatric Nephrology, Center for Pediatric and Adolescent Medicine, University Hospital Heidelberg, Im Neuenheimer Feld 430, 69120, Heidelberg, Germany.
Du Z; Division of Pediatric Nephrology, Center for Pediatric and Adolescent Medicine, University Hospital Heidelberg, Im Neuenheimer Feld 430, 69120, Heidelberg, Germany.
Drozdz D; Jagiellonian University Medical College, Krakow, Poland.
Klaus G; KfH Pediatric Kidney Center, Marburg, Germany.
Arbeiter K; Department of Pediatrics and Adolescent Medicine, Medical University Vienna, Vienna, Austria.
Romero P; Division of Pediatric Surgery, Department of General, Visceral and Transplantation Surgery, University Hospital Heidelberg, Heidelberg, Germany.
Schwenger V; Department of Nephrology, Klinikum der Landeshauptstadt Stuttgart, Stuttgart, Germany.
Schwab C; Institute of Pathology, Heidelberg University, Heidelberg, Germany.
Szabo AJ; Pediatric Center, MTA Center of Excellence, Semmelweis University, Budapest, Hungary.; HUNREN SE Pediatrics and Nephrology Research Group, Budapest, Hungary.
Zarogiannis SG; Division of Pediatric Nephrology, Center for Pediatric and Adolescent Medicine, University Hospital Heidelberg, Im Neuenheimer Feld 430, 69120, Heidelberg, Germany.; Department of Physiology, Faculty of Medicine, University of Thessaly, Larissa, Greece.
Schmitt CP; Division of Pediatric Nephrology, Center for Pediatric and Adolescent Medicine, University Hospital Heidelberg, Im Neuenheimer Feld 430, 69120, Heidelberg, Germany. .
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Źródło:
Scientific reports [Sci Rep] 2023 Oct 13; Vol. 13 (1), pp. 17429. Date of Electronic Publication: 2023 Oct 13.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Renal Insufficiency, Chronic*/metabolism
Renal Insufficiency*/metabolism
Humans ; Peritoneum/metabolism ; Tight Junctions/metabolism ; Claudin-1/metabolism ; Endothelial Cells/metabolism ; Claudin-2/metabolism ; Creatinine/metabolism ; Membrane Transport Proteins/metabolism ; Glucose/metabolism ; Sodium-Phosphate Cotransporter Proteins, Type III/metabolism
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Linkage analysis using whole exome sequencing data implicates SLC17A1, SLC17A3, TATDN2 and TMEM131L in type 1 diabetes in Kuwaiti families.
Autorzy:
Hebbar P; Department of Genetics and Bioinformatics, Dasman Diabetes Institute, 15462, Kuwait City, Kuwait.
Nizam R; Department of Genetics and Bioinformatics, Dasman Diabetes Institute, 15462, Kuwait City, Kuwait.
John SE; Department of Genetics and Bioinformatics, Dasman Diabetes Institute, 15462, Kuwait City, Kuwait.
Antony D; Department of Genetics and Bioinformatics, Dasman Diabetes Institute, 15462, Kuwait City, Kuwait.
Dashti M; Department of Genetics and Bioinformatics, Dasman Diabetes Institute, 15462, Kuwait City, Kuwait.
Channanath A; Department of Genetics and Bioinformatics, Dasman Diabetes Institute, 15462, Kuwait City, Kuwait.
Shaltout A; Department of Population Health, Dasman Diabetes Institute, Kuwait City, Kuwait.
Al-Khandari H; Department of Population Health, Dasman Diabetes Institute, Kuwait City, Kuwait.; Department of Pediatrics, Farwaniya Hospital, Ministry of Health, Kuwait City, Kuwait.
Koistinen HA; Department of Medicine, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.; Department of Public Health and Welfare, Finnish Institute for Health and Welfare, Helsinki, Finland.; Minerva Foundation Institute for Medical Research, Helsinki, Finland.
Tuomilehto J; Department of Public Health and Welfare, Finnish Institute for Health and Welfare, Helsinki, Finland.; Department of Public Health, University of Helsinki, Helsinki, Finland.; Diabetes Research Group, King Abdulaziz University, Jeddah, Saudi Arabia.
Alsmadi O; King Hussein Cancer Center, Amman, Jordan.
Thanaraj TA; Department of Genetics and Bioinformatics, Dasman Diabetes Institute, 15462, Kuwait City, Kuwait. .
Al-Mulla F; Department of Genetics and Bioinformatics, Dasman Diabetes Institute, 15462, Kuwait City, Kuwait. .
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Źródło:
Scientific reports [Sci Rep] 2023 Sep 11; Vol. 13 (1), pp. 14978. Date of Electronic Publication: 2023 Sep 11.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Diabetes Mellitus, Type 1*/genetics
Child ; Humans ; Kuwait/epidemiology ; Exome Sequencing ; Genome-Wide Association Study ; Insulin ; Sodium-Phosphate Cotransporter Proteins, Type I
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Identification of co-diagnostic effect genes for aortic dissection and metabolic syndrome by multiple machine learning algorithms.
Autorzy:
Zhang Y; Kunming Medical University, Kunming, 650000, Yunnan, China.; Department of Vascular Surgery, Fuwai Yunnan Cardiovascular Hospital, Affiliated Cardiovascular Hospital of Kunming Medical University, Kunming, 650000, Yunnan, China.
Li J; Department of Neurosurgery, The Fourth Affiliated Hospital of Guangxi Medical University, Liuzhou, 545000, Guangxi, China.; Department of Neurosurgery, West China Hospital, Sichuan University, Chengdu, Sichuan, 610000, China.
Chen L; Department of Cardiology, the Second Affiliated Hospital of Chongqing Medical University, Chongqing, 400010, China.
Liang R; College of Bioengineering, Chongqing University, Chongqing, 400030, China.
Liu Q; Department of Neurosurgery, The Fourth Affiliated Hospital of Guangxi Medical University, Liuzhou, 545000, Guangxi, China.
Wang Z; Vascular Surgery, the First Affiliated Hospital of Dali University, Dali, 671000, China. .
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Źródło:
Scientific reports [Sci Rep] 2023 Sep 08; Vol. 13 (1), pp. 14794. Date of Electronic Publication: 2023 Sep 08.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Metabolic Syndrome*/diagnosis
Metabolic Syndrome*/genetics
Aortic Dissection*/diagnosis
Aortic Dissection*/genetics
Humans ; Endothelial Cells ; Genes, cdc ; Algorithms ; Mad2 Proteins ; Sodium-Phosphate Cotransporter Proteins, Type III ; Intracellular Signaling Peptides and Proteins
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Effects of pharmacological inhibition of the sodium-dependent phosphate cotransporter 2b (NPT2b) on intestinal phosphate absorption in mouse and rat models.
Autorzy:
Wang X; Lilly Research Laboratories, Eli Lilly and Company, Indianapolis, Indiana, USA.
Xu Y; Lilly Research Laboratories, Eli Lilly and Company, Indianapolis, Indiana, USA.
Yu X; Lilly Research Laboratories, Eli Lilly and Company, Indianapolis, Indiana, USA.
Dey A; Lilly Research Laboratories, Eli Lilly and Company, Indianapolis, Indiana, USA.
Zhang HY; Lilly Research Laboratories, Eli Lilly and Company, Indianapolis, Indiana, USA.
Zink CM; Lilly Research Laboratories, Eli Lilly and Company, Indianapolis, Indiana, USA.
Wodka D; Lilly Research Laboratories, Eli Lilly and Company, Indianapolis, Indiana, USA.
Porter G; Lilly Research Laboratories, Eli Lilly and Company, Indianapolis, Indiana, USA.
Matter WF; Lilly Research Laboratories, Eli Lilly and Company, Indianapolis, Indiana, USA.
Porras L; Lilly Research Laboratories, Eli Lilly and Company, Indianapolis, Indiana, USA.
Reidy CA; Lilly Research Laboratories, Eli Lilly and Company, Indianapolis, Indiana, USA.
Peterson JA; Lilly Research Laboratories, Eli Lilly and Company, Indianapolis, Indiana, USA.
Mattioni BE; Lilly Research Laboratories, Eli Lilly and Company, Indianapolis, Indiana, USA.
Haas JV; Lilly Research Laboratories, Eli Lilly and Company, Indianapolis, Indiana, USA.
Kowala MC; Lilly Research Laboratories, Eli Lilly and Company, Indianapolis, Indiana, USA.
Wetterau JR; Lilly Research Laboratories, Eli Lilly and Company, Indianapolis, Indiana, USA.
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Źródło:
Pharmacology research & perspectives [Pharmacol Res Perspect] 2022 Apr; Vol. 10 (2), pp. e00938.
Typ publikacji:
Journal Article
MeSH Terms:
Intestinal Absorption*
Phosphates/*metabolism
Sodium-Phosphate Cotransporter Proteins, Type IIb/*antagonists & inhibitors
Animals ; CHO Cells ; Chelating Agents/administration & dosage ; Chelating Agents/pharmacology ; Cricetulus ; Male ; Mice ; Mice, Inbred C57BL ; Rats ; Rats, Sprague-Dawley ; Sevelamer/administration & dosage ; Sevelamer/pharmacology ; Sodium-Phosphate Cotransporter Proteins, Type IIb/metabolism ; Species Specificity
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Renal phosphate handling and inherited disorders of phosphate reabsorption: an update.
Autorzy:
Wagner CA; Institute of Physiology, University of Zurich, Winterthurerstrasse 190, 8057, Zurich, Switzerland. .; National Center for Competence in Research (NCCR) Kidney.CH, Zurich, Switzerland. .
Rubio-Aliaga I; Institute of Physiology, University of Zurich, Winterthurerstrasse 190, 8057, Zurich, Switzerland.; National Center for Competence in Research (NCCR) Kidney.CH, Zurich, Switzerland.
Hernando N; Institute of Physiology, University of Zurich, Winterthurerstrasse 190, 8057, Zurich, Switzerland.; National Center for Competence in Research (NCCR) Kidney.CH, Zurich, Switzerland.
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Źródło:
Pediatric nephrology (Berlin, Germany) [Pediatr Nephrol] 2019 Apr; Vol. 34 (4), pp. 549-559. Date of Electronic Publication: 2017 Dec 23.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't; Review
MeSH Terms:
Renal Reabsorption*
Kidney Tubules, Proximal/*metabolism
Phosphates/*metabolism
Renal Tubular Transport, Inborn Errors/*metabolism
Sodium-Phosphate Cotransporter Proteins/*metabolism
Animals ; Familial Hypophosphatemic Rickets ; Fibroblast Growth Factor-23 ; Genetic Predisposition to Disease ; Heredity ; Humans ; Mutation ; Pedigree ; Phenotype ; Prognosis ; Renal Tubular Transport, Inborn Errors/genetics ; Renal Tubular Transport, Inborn Errors/physiopathology ; Risk Assessment ; Risk Factors ; Sodium-Phosphate Cotransporter Proteins/genetics ; Sodium-Phosphate Cotransporter Proteins, Type III/genetics ; Sodium-Phosphate Cotransporter Proteins, Type III/metabolism ; Sodium-Phosphate Cotransporter Proteins, Type IIa/genetics ; Sodium-Phosphate Cotransporter Proteins, Type IIa/metabolism ; Sodium-Phosphate Cotransporter Proteins, Type IIc/genetics ; Sodium-Phosphate Cotransporter Proteins, Type IIc/metabolism
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
New insights in the genetic variant spectrum of SLC34A2 in pulmonary alveolar microlithiasis; a systematic review.
Autorzy:
Jönsson ÅLM; Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark. .; Department of Biomedicine, Aarhus University, Aarhus, Denmark. .
Hilberg O; Department of Regional Health Research, University of Southern Denmark, Odense, Denmark. .; Department of Medicine, Lillebaelt Hospital, Vejle, Denmark. .
Simonsen U; Department of Biomedicine, Aarhus University, Aarhus, Denmark.
Christensen JH; Department of Biomedicine, Aarhus University, Aarhus, Denmark.
Bendstrup E; Centre for Rare Lung Diseases, Department of Respiratory Diseases and Allergy, Aarhus University Hospital, Aarhus, Denmark.
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Źródło:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2023 May 31; Vol. 18 (1), pp. 130. Date of Electronic Publication: 2023 May 31.
Typ publikacji:
Systematic Review; Journal Article; Review; Research Support, Non-U.S. Gov't
MeSH Terms:
Lung Diseases*/genetics
Calcinosis*/genetics
Genetic Diseases, Inborn*/genetics
Genetic Diseases, Inborn*/metabolism
Humans ; Lung ; Frameshift Mutation ; Pulmonary Alveoli/metabolism ; Sodium-Phosphate Cotransporter Proteins, Type IIb/genetics ; Sodium-Phosphate Cotransporter Proteins, Type IIb/metabolism
SCR Disease Name:
Pulmonary Alveolar Microlithiasis
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
The Genetics of Primary Familial Brain Calcification: A Literature Review.
Autorzy:
Chen SY; Department of Neurology, Kaohsiung Chang Gung Memorial Hospital, College of Medicine, Chang Gung University, Kaohsiung 833401, Taiwan.
Ho CJ; Department of Neurology, Kaohsiung Chang Gung Memorial Hospital, College of Medicine, Chang Gung University, Kaohsiung 833401, Taiwan.
Lu YT; Department of Neurology, Kaohsiung Chang Gung Memorial Hospital, College of Medicine, Chang Gung University, Kaohsiung 833401, Taiwan.
Lin CH; Department of Neurology, Kaohsiung Chang Gung Memorial Hospital, College of Medicine, Chang Gung University, Kaohsiung 833401, Taiwan.
Lan MY; Department of Neurology, Kaohsiung Chang Gung Memorial Hospital, College of Medicine, Chang Gung University, Kaohsiung 833401, Taiwan.; Center for Parkinson's Disease, Kaohsiung Chang Gung Memorial Hospital, College of Medicine, Chang Gung University, Kaohsiung 833401, Taiwan.; Center for Mitochondrial Research and Medicine, Kaohsiung Chang Gung Memorial Hospital, College of Medicine, Chang Gung University, Kaohsiung 833401, Taiwan.
Tsai MH; Department of Neurology, Kaohsiung Chang Gung Memorial Hospital, College of Medicine, Chang Gung University, Kaohsiung 833401, Taiwan.; School of Medicine, College of Medicine, Chang Gung University, Taoyuan 333323, Taiwan.; Department of Medical Research, Kaohsiung Chang Gung Memorial Hospital, College of Medicine, Chang Gung University, Kaohsiung 833401, Taiwan.; Genomics and Proteomics Core Laboratory, Kaohsiung Chang Gung Memorial Hospital, College of Medicine, Chang Gung University, Kaohsiung 833401, Taiwan.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2023 Jun 29; Vol. 24 (13). Date of Electronic Publication: 2023 Jun 29.
Typ publikacji:
Journal Article; Review
MeSH Terms:
Brain Diseases*/genetics
Brain Diseases*/pathology
Basal Ganglia Diseases*/pathology
Humans ; Brain/diagnostic imaging ; Brain/pathology ; Phenotype ; Proto-Oncogene Proteins c-sis/genetics ; Mutation ; Sodium-Phosphate Cotransporter Proteins, Type III/genetics
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Brain Calcifications: Genetic, Molecular, and Clinical Aspects.
Autorzy:
Monfrini E; Dino Ferrari Center, Neuroscience Section, Department of Pathophysiology and Transplantation, University of Milan, 20122 Milan, Italy.; Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, Neurology Unit, 20122 Milan, Italy.
Arienti F; Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, Neurology Unit, 20122 Milan, Italy.
Rinchetti P; Columbia University Irving Medical Center, Center for Motor Neuron Biology and Diseases, Departments of Pathology & Cell Biology and Neurology, New York, NY 10032, USA.
Lotti F; Columbia University Irving Medical Center, Center for Motor Neuron Biology and Diseases, Departments of Pathology & Cell Biology and Neurology, New York, NY 10032, USA.
Riboldi GM; The Marlene and Paolo Fresco Institute for Parkinson's and Movement Disorders, Department of Neurology, NYU Langone Health, New York, NY 10017, USA.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2023 May 19; Vol. 24 (10). Date of Electronic Publication: 2023 May 19.
Typ publikacji:
Journal Article; Review
MeSH Terms:
Brain Diseases*/metabolism
Calcinosis*/genetics
Calcinosis*/metabolism
Humans ; Xenotropic and Polytropic Retrovirus Receptor ; Calcium/metabolism ; Brain/metabolism ; Molecular Biology ; Mutation ; Sodium-Phosphate Cotransporter Proteins, Type III/genetics
Czasopismo naukowe
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Tytuł:
Isolation and Characterization of Three Sodium-Phosphate Cotransporter Genes and Their Transcriptional Regulation in the Grass Carp Ctenopharyngodon idella .
Autorzy:
Zhuo MQ; Laboratory of Molecular Nutrition for Aquatic Economic Animals, Fishery College, Huazhong Agricultural University, Wuhan 430070, China.; School of Animal Science and Nutritional Engineering, Wuhan Polytechnic University, Wuhan 430023, China.
Lv WH; Laboratory of Molecular Nutrition for Aquatic Economic Animals, Fishery College, Huazhong Agricultural University, Wuhan 430070, China.
Xu YH; Laboratory of Molecular Nutrition for Aquatic Economic Animals, Fishery College, Huazhong Agricultural University, Wuhan 430070, China.
Luo Z; Laboratory of Molecular Nutrition for Aquatic Economic Animals, Fishery College, Huazhong Agricultural University, Wuhan 430070, China.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2020 Nov 03; Vol. 21 (21). Date of Electronic Publication: 2020 Nov 03.
Typ publikacji:
Journal Article
MeSH Terms:
Carps/*genetics
Sodium-Phosphate Cotransporter Proteins/*genetics
Sodium-Phosphate Cotransporter Proteins, Type III/*genetics
Animals ; Carps/metabolism ; Cloning, Molecular ; Fish Proteins/genetics ; Fish Proteins/metabolism ; Gene Expression Regulation/drug effects ; Homeostasis/genetics ; Metabolic Networks and Pathways/genetics ; Phosphorus/metabolism ; Phosphorus/pharmacology ; Promoter Regions, Genetic ; Protein Isoforms/genetics ; Protein Isoforms/metabolism ; Response Elements/genetics ; Sequence Analysis, DNA ; Sodium-Phosphate Cotransporter Proteins/metabolism ; Sodium-Phosphate Cotransporter Proteins, Type III/metabolism
Czasopismo naukowe
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Tytuł:
SLC20A2 mutation manifesting as very late-onset orofacial dyskinesia.
Autorzy:
Woo KA; Department of Neurology, Seoul Metropolitan Government-Seoul National University Boramae Medical Center, 20 Boramae-ro 5-gil, Dongjak-gu, Seoul, 07061, South Korea.; Department of Neurology, Seoul National University Hospital, Seoul, South Korea.
Yoo D; Department of Neurology, Kyung Hee University Medical Center, Seoul, South Korea.
Lee JY; Department of Neurology, Seoul Metropolitan Government-Seoul National University Boramae Medical Center, 20 Boramae-ro 5-gil, Dongjak-gu, Seoul, 07061, South Korea. .
Kim MJ; Department of Laboratory Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, South Korea.; Rare Disease Center, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, South Korea.
Seong MW; Department of Laboratory Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, South Korea.
Park SS; Department of Laboratory Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, South Korea.
Jeon B; Department of Neurology, Seoul National University Hospital, Seoul, South Korea.
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Źródło:
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology [Neurol Sci] 2021 Jun; Vol. 42 (6), pp. 2561-2564. Date of Electronic Publication: 2021 Jan 16.
Typ publikacji:
Case Reports; Letter
MeSH Terms:
Dyskinesias*
Sodium-Phosphate Cotransporter Proteins, Type III*/genetics
Aged ; Female ; Humans ; Male ; Mutation
Raport
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
A single Na+-Pi cotransporter in Toxoplasma plays key roles in phosphate import and control of parasite osmoregulation.
Autorzy:
Asady B; Department of Molecular Microbiology and Immunology, Johns Hopkins University Bloomberg School of Public Health, Baltimore Maryland, United States of America.
Dick CF; Department of Molecular Microbiology and Immunology, Johns Hopkins University Bloomberg School of Public Health, Baltimore Maryland, United States of America.
Ehrenman K; Department of Molecular Microbiology and Immunology, Johns Hopkins University Bloomberg School of Public Health, Baltimore Maryland, United States of America.
Sahu T; Department of Molecular Microbiology and Immunology, Johns Hopkins University Bloomberg School of Public Health, Baltimore Maryland, United States of America.
Romano JD; Department of Molecular Microbiology and Immunology, Johns Hopkins University Bloomberg School of Public Health, Baltimore Maryland, United States of America.
Coppens I; Department of Molecular Microbiology and Immunology, Johns Hopkins University Bloomberg School of Public Health, Baltimore Maryland, United States of America.
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Źródło:
PLoS pathogens [PLoS Pathog] 2020 Dec 31; Vol. 16 (12), pp. e1009067. Date of Electronic Publication: 2020 Dec 31 (Print Publication: 2020).
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms:
Toxoplasma*/genetics
Toxoplasma*/metabolism
Osmoregulation/*genetics
Phosphates/*metabolism
Sodium-Phosphate Cotransporter Proteins/*physiology
Animals ; Animals, Genetically Modified ; Biological Transport/genetics ; Cells, Cultured ; Humans ; Mice ; Sodium-Phosphate Cotransporter Proteins/genetics
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
SLC20A2-Associated Idiopathic basal ganglia calcification (Fahr disease): a case family report.
Autorzy:
Li M; Department of Neurology, Ma'anshan Hospital, 243099, Ma'anshan, China.
Fu Q; Department of Neurology, The Second Affiliated Hospital of Soochow University, 215004, Suzhou, China.
Xiang L; Department of Neurology, Ma'anshan Hospital, 243099, Ma'anshan, China.
Zheng Y; Department of Neurology, Ma'anshan Hospital, 243099, Ma'anshan, China.
Ping W; Department of Neurology, Ma'anshan Hospital, 243099, Ma'anshan, China.
Cao Y; Department of Neurology, The Second Affiliated Hospital of Soochow University, 215004, Suzhou, China. .
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Źródło:
BMC neurology [BMC Neurol] 2022 Nov 17; Vol. 22 (1), pp. 438. Date of Electronic Publication: 2022 Nov 17.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Basal Ganglia Diseases*/diagnostic imaging
Basal Ganglia Diseases*/genetics
Calcinosis*/diagnostic imaging
Calcinosis*/genetics
Male ; Humans ; Middle Aged ; Sodium-Phosphate Cotransporter Proteins, Type III/genetics ; Basal Ganglia/diagnostic imaging ; Basal Ganglia/metabolism
SCR Disease Name:
Fahr's disease
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Living with primary brain calcification with PDGFB variants: A qualitative study.
Autorzy:
Takeuchi T; Faculty of Nursing, Toyama Prefecture University, Toyama City, Toyama, Japan.
Aoyagi H; Faculty of Nursing, Toyama Prefecture University, Toyama City, Toyama, Japan.
Kuwako Y; Faculty of Nursing, Toyama Prefecture University, Toyama City, Toyama, Japan.
Hozumi I; Laboratory of Medical Therapeutics and Molecular Therapeutics, Gifu Pharmaceutical University, Gifu, Japan.; Department of Neurology, Graduate School of Medicine, Gifu University, Gifu, Japan.
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Źródło:
PloS one [PLoS One] 2022 Oct 07; Vol. 17 (10), pp. e0275227. Date of Electronic Publication: 2022 Oct 07 (Print Publication: 2022).
Typ publikacji:
Journal Article
MeSH Terms:
Brain Diseases*/diagnosis
Calcinosis*/diagnosis
Calcinosis*/genetics
Neurodegenerative Diseases*/genetics
Becaplermin/genetics ; Brain/metabolism ; Humans ; Mutation ; Proto-Oncogene Proteins c-sis/genetics ; Sodium-Phosphate Cotransporter Proteins, Type III/genetics ; Sodium-Phosphate Cotransporter Proteins, Type III/metabolism
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Role of sodium-dependent Pi transporter/Npt2c on Pi homeostasis in klotho knockout mice different properties between juvenile and adult stages.
Autorzy:
Hanazaki A; Department of Applied Nutrition, Institute of Biomedical Sciences, Tokushima University Graduate School Tokushima, Tokushima, Japan.
Ikuta K; Department of Applied Nutrition, Institute of Biomedical Sciences, Tokushima University Graduate School Tokushima, Tokushima, Japan.
Sasaki S; Department of Applied Nutrition, Institute of Biomedical Sciences, Tokushima University Graduate School Tokushima, Tokushima, Japan.
Sasaki S; Department of Applied Nutrition, Institute of Biomedical Sciences, Tokushima University Graduate School Tokushima, Tokushima, Japan.
Koike M; Department of Applied Nutrition, Institute of Biomedical Sciences, Tokushima University Graduate School Tokushima, Tokushima, Japan.
Tanifuji K; Department of Applied Nutrition, Institute of Biomedical Sciences, Tokushima University Graduate School Tokushima, Tokushima, Japan.
Arima Y; Department of Applied Nutrition, Institute of Biomedical Sciences, Tokushima University Graduate School Tokushima, Tokushima, Japan.
Kaneko I; Department of Applied Nutrition, Institute of Biomedical Sciences, Tokushima University Graduate School Tokushima, Tokushima, Japan.
Shiozaki Y; Department of Applied Nutrition, Institute of Biomedical Sciences, Tokushima University Graduate School Tokushima, Tokushima, Japan.
Tatsumi S; Department of Applied Nutrition, Institute of Biomedical Sciences, Tokushima University Graduate School Tokushima, Tokushima, Japan.
Hasegawa T; Developmental Biology of Hard Tissue, Hokkaido University Graduate School of Dental Medicine, Sapporo, Japan.
Amizuka N; Developmental Biology of Hard Tissue, Hokkaido University Graduate School of Dental Medicine, Sapporo, Japan.
Miyamoto KI; Department of Applied Nutrition, Institute of Biomedical Sciences, Tokushima University Graduate School Tokushima, Tokushima, Japan.
Segawa H; Department of Applied Nutrition, Institute of Biomedical Sciences, Tokushima University Graduate School Tokushima, Tokushima, Japan.
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Źródło:
Physiological reports [Physiol Rep] 2020 Feb; Vol. 8 (3), pp. e14324.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Aging/*metabolism
Glucuronidase/*metabolism
Phosphates/*blood
Sodium-Phosphate Cotransporter Proteins, Type IIc/*metabolism
Animals ; Fibroblast Growth Factor-23 ; Glucuronidase/genetics ; Homeostasis ; Intestinal Absorption ; Intestinal Mucosa/growth & development ; Intestinal Mucosa/metabolism ; Kidney/growth & development ; Kidney/metabolism ; Klotho Proteins ; Male ; Mice ; Phosphates/metabolism ; Renal Reabsorption ; Sodium-Phosphate Cotransporter Proteins, Type IIc/genetics
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
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