Endocrinology and Mineral Metabolism
We are working with clinical and preclinical studies on metabolic bone diseases as well as genetic bone diseases such as Osteogenesis imperfecta. Through studies of the basic biology of bone cells, genetic studies on bone mineral density, epidemiological population studies and through involvement in clinical trials we try to understand the causes of bone diseases, to identify risk factors, and also to develop new treatment strategies.
Description of our research
The research is mainly focused on male osteoporosis, osteogenesis imperfecta and phosphate homeostasis.
Male osteoporosis
These investigations are based on the clinical cohort, Mr OS. This is a collaboration between Sweden, US and Hong Kong. In total 11 000 elderly men are followed prospectively to fracture. In Uppsala 1000 men are gathered. The baseline sampling of the cohort and 5 year follow up is now completed. Current research is mostly on regulation of calcium and phosphate, influence of sex hormones and genetic determinants for fracture.
Osteogenesis Imperfecta
Osteogenesis Imperfecta (OI) is an inherited disease that is causes by mutations in the genes encoding collagen type I. In collaboration with the children’s hospital in Stockholm a cohort of patients with OI is collected. The mutations causing OI are determined, and at present large amount of clinical data are gathered to investigate genotype-phenotype interaction in this disease. Also, individual patients with new sorts of mutations causing defect collagen are investigated, and we have recently identified OI-causing mutations in the type I procollagen C-propeptide cleavage site. Finally in this project we are investigating the possibility to use gene silencing to interrupt dominant negative mutations in the genes for collagen type I.
Phosphate homeostasis
In collaboration with nephrologists at Uppsala hospital, hormonal regulation of serum phosphate is investigated. Focus is on the recently discovered putative hormone FGF-23. Again the research is based on clinical cases or groups of patients. To date most interest has been on studies in patients with oncogenic phosphate wasting osteomalacia, and in patient groups with renal impairment. In the Mr OS cohort we have demonstrated that low serum levels of FGF-23 is a risk factor for fracture.
Publications
Part of Journal of the Endocrine Society, 2024
- DOI for Transcriptome Analysis Reveals Distinct Patterns Between the Invasive and Noninvasive Pituitary Neuroendocrine Tumors
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Part of European Journal of Endocrinology, p. 217-224, 2023
- DOI for Pituitary function before and after surgery for nonfunctioning pituitary adenomas-data from the Swedish Pituitary Register
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Part of Clinical Chemistry and Laboratory Medicine, p. 1780-1791, 2023
Long-Term Outcome of Graves' Disease: A Gender Perspective
Part of Women's Health Reports, p. 487-496, 2023
- DOI for Long-Term Outcome of Graves' Disease: A Gender Perspective
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Experiences in implementing immunopsychiatry in real life
Part of Journal of Affective Disorders Reports, 2023
- DOI for Experiences in implementing immunopsychiatry in real life
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Part of Journal of Bone and Mineral Research, p. 1258-1267, 2023
- DOI for 3D Finite Element Models Reconstructed From 2D Dual-Energy X-Ray Absorptiometry (DXA) Images Improve Hip Fracture Prediction Compared to Areal BMD in Osteoporotic Fractures in Men (MrOS) Sweden Cohort
- Download full text (pdf) of 3D Finite Element Models Reconstructed From 2D Dual-Energy X-Ray Absorptiometry (DXA) Images Improve Hip Fracture Prediction Compared to Areal BMD in Osteoporotic Fractures in Men (MrOS) Sweden Cohort
Long-term Follow-up of 84 Patients With Giant Prolactinomas: A Swedish Nationwide Study
Part of Journal of Clinical Endocrinology and Metabolism, 2023
- DOI for Long-term Follow-up of 84 Patients With Giant Prolactinomas: A Swedish Nationwide Study
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Genetics of tibia bone properties of crossbred commercial laying hens in different housing systems
Part of G3, 2023
- DOI for Genetics of tibia bone properties of crossbred commercial laying hens in different housing systems
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Graves' Disease; Aspects on Orbitopathy and Bone Metabolism
2023
Part of Experimental and clinical endocrinology & diabetes, p. 236-241, 2023
- DOI for Comparison between thyroid stimulating immunoglobulin and TSH-receptor antibodies in management of Graves' orbitopathy
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Vitamin D and bone metabolism in Graves’ disease: a prospective study
Part of Journal of Endocrinological Investigation, p. 425-433, 2023
- DOI for Vitamin D and bone metabolism in Graves’ disease: a prospective study
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Part of BMJ Open, 2023
- DOI for Exploring gender dysphoria and related outcomes in a prospective cohort study: protocol for the Swedish Gender Dysphoria Study (SKDS)
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Long-term outcomes of patients with acromegaly: a report from the Swedish Pituitary Register
Part of European Journal of Endocrinology, p. 329-339, 2022
Increased Mortality Persists after Treatment of Cushing's Disease: A Matched Nationwide Cohort Study
Part of Journal of the Endocrine Society, 2022
- DOI for Increased Mortality Persists after Treatment of Cushing's Disease: A Matched Nationwide Cohort Study
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Part of Journal of Bone and Mineral Research, p. 649-659, 2022
- DOI for Real-World Effectiveness of Anti-Resorptive Treatment in Patients With Incident Fragility Fractures: The STORM Cohort – A Swedish Retrospective Observational Study
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Part of Clinical Endocrinology, p. 54-61, 2022
- DOI for Natural history and surgical outcome of Rathke's cleft cysts-A study from the Swedish Pituitary Registry
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Part of European Heart Journal Open, 2022
- DOI for NT-proBNP and stem cell factor plasma concentrations are independently associated with cardiovascular outcomes in end-stage renal disease hemodialysis patients
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Part of Biomedicines, 2022
- DOI for Novel Biomarkers Detected by Proteomics Predict Death and Cardiovascular Events in Hemodialysis Patients
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Part of Journal of Clinical Endocrinology and Metabolism, p. 1750-1760, 2021
- DOI for Psychotropic Drugs in Patients with Cushing's Disease Before Diagnosis and at Long-Term Follow-Up: A Nationwide Study
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Part of Journal of the Endocrine Society, 2021
- DOI for Potential Transcriptional Biomarkers to Guide Glucocorticoid Replacement in Autoimmune Addison's Disease
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Corticotroph aggressive pituitary tumors and carcinomas frequently harbour ATRX mutations
Part of Journal of Clinical Endocrinology and Metabolism, p. 1183-1194, 2021
- DOI for Corticotroph aggressive pituitary tumors and carcinomas frequently harbour ATRX mutations
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Part of The journals of gerontology. Series A, Biological sciences and medical sciences, 2021
Serum Glycine Levels Are Associated With Cortical Bone Properties and Fracture Risk in Men
Part of Journal of Clinical Endocrinology and Metabolism, 2021
- DOI for Serum Glycine Levels Are Associated With Cortical Bone Properties and Fracture Risk in Men
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Part of Journal of Clinical Endocrinology and Metabolism, p. 814-825, 2021
- DOI for Improved Urinary Cortisol Metabolome in Addison Disease: A Prospective Trial of Dual-Release Hydrocortisone
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Vitamin D status and current policies to achieve adequate vitamin D intake in the Nordic countries
Part of Scandinavian Journal of Public Health, p. 616-627, 2021
Part of Pituitary, p. 797-809, 2021
- DOI for Prevalence of Nelson's syndrome after bilateral adrenalectomy in patients with cushing's disease: a systematic review and meta-analysis
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Part of Scandinavian Journal of Gastroenterology, p. 1296-1303, 2021
Part of ENDOCRINOLOGY DIABETES & METABOLISM, 2021
- DOI for Treatment of patients with Graves' disease in Sweden compared to international surveys of an 'index patient'
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Annotation of pituitary neuroendocrine tumors with genome-wide expression analysis
Part of Acta neuropathologica communications, 2021
Part of Journal of neuroendocrinology, 2021
- DOI for Histopathological findings in the landscape of IgG4-related pathology in patients with pituitary dysfunction: Review of six cases
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2021
Osteoprotegerin predicts cardiovascular events in patients treated with haemodialysis
Part of Nephrology, Dialysis and Transplantation, p. 1162-1170, 2021
Part of Scientific Reports, 2021
- DOI for The relationship of indoxyl sulfate and p-cresyl sulfate with target cardiovascular proteins in hemodialysis patients
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Part of European Journal of Endocrinology, p. 569-582, 2020
Part of Journal of Interferon and Cytokine Research, p. 71-74, 2020
Part of Journal of Bone and Mineral Research, p. 298-305, 2020
Part of Journal of Clinical Endocrinology and Metabolism, p. 2616-2624, 2020
Real-world effectiveness of osteoporosis treatment in the oldest old
Part of Osteoporosis International, p. 1525-1533, 2020
- DOI for Real-world effectiveness of osteoporosis treatment in the oldest old
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Associations of Bone Turnover Markers with Cognitive Function in Patients Undergoing Hemodialysis
Part of Disease Markers, 2020
- DOI for Associations of Bone Turnover Markers with Cognitive Function in Patients Undergoing Hemodialysis
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Part of Scientific Reports, 2020
- DOI for The association between Single Nucleotide Polymorphisms of Klotho Gene and Mortality in Elderly Men: The MrOS Sweden Study
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Part of Journal of Clinical Medicine, 2020
- DOI for Association between Circulation Indole-3-Acetic Acid Levels and Stem Cell Factor in Maintenance Hemodialysis Patients: A Cross-Sectional Study
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Risk of imminent fracture following a previous fracture in a Swedish database study
Part of Osteoporosis International, p. 601-609, 2019
- DOI for Risk of imminent fracture following a previous fracture in a Swedish database study
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Part of Journal of Steroid Biochemistry and Molecular Biology, p. 160-165, 2019
Part of Molecular Genetics & Genomic Medicine, 2019
- DOI for Expanding the phenotypic spectrum of osteogenesis imperfecta type V including heterotopic ossification of muscle origins and attachments
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Gaucher Disease in Bone: From Pathophysiology To Practice
Part of Journal of Bone and Mineral Research, p. 996-1013, 2019
- DOI for Gaucher Disease in Bone: From Pathophysiology To Practice
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Disentangling the genetics of lean mass
Part of American Journal of Clinical Nutrition, p. 276-287, 2019
Part of Archives of Osteoporosis, 2019
The incidence of Cushing's disease: a nationwide Swedish study
Part of Pituitary, p. 179-186, 2019
- DOI for The incidence of Cushing's disease: a nationwide Swedish study
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Overall and Disease-Specific Mortality in Patients With Cushing Disease: A Swedish Nationwide Study
Part of Journal of Clinical Endocrinology and Metabolism, p. 2375-2384, 2019
Part of Journal of Clinical Endocrinology and Metabolism, p. 3379-3388, 2019