Wolfgang Högler Selected Research

Osteogenesis Imperfecta (Lobstein Disease)

11/2023	Bi-allelic mutation in SEC16B alters collagen trafficking and increases ER stress.
12/2021	A novel cryptic splice site mutation in COL1A2 as a cause of osteogenesis imperfecta.
1/2018	Efficacy and treatment costs of zoledronate versus pamidronate in paediatric osteoporosis.
1/2017	Phenotypic Spectrum in Osteogenesis Imperfecta Due to Mutations in TMEM38B: Unraveling a Complex Cellular Defect.
12/2016	Phenotypic variability in patients with osteogenesis imperfecta caused by BMP1 mutations.
1/2016	Absence of the ER Cation Channel TMEM38B/TRIC-B Disrupts Intracellular Calcium Homeostasis and Dysregulates Collagen Synthesis in Recessive Osteogenesis Imperfecta.
1/2016	Recurrent Proximal Femur Fractures in a Teenager With Osteogenesis Imperfecta on Continuous Bisphosphonate Therapy: Are We Overtreating?
10/2009	PPIB mutations cause severe osteogenesis imperfecta.

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Wolfgang Högler Research Topics

Disease

22	Rickets (Rachitis) 01/2024 - 06/2007
11	Hypophosphatasia 03/2024 - 06/2007
11	Osteomalacia 01/2023 - 06/2015
11	Vitamin D Deficiency 12/2022 - 03/2010
10	Pain (Aches) 02/2023 - 01/2007
8	Osteogenesis Imperfecta (Lobstein Disease) 11/2023 - 10/2009
7	Osteoporosis 02/2023 - 03/2010
6	Congenital Abnormalities (Deformity) 01/2024 - 01/2015
6	Familial Hypophosphatemic Rickets (X-Linked Hypophosphatemia) 01/2024 - 01/2018
4	Metabolic Bone Diseases (Osteopenia) 10/2019 - 02/2007
4	Seizures (Absence Seizure) 01/2017 - 02/2007
3	Fatigue 03/2024 - 01/2021
3	Hypophosphatemia 01/2022 - 01/2018
2	Chronic Disease (Chronic Diseases) 07/2022 - 04/2014
2	Phenylketonurias (Phenylketonuria) 06/2021 - 04/2021
2	Pseudohypoaldosteronism 05/2021 - 05/2013
2	Nephrocalcinosis 01/2021 - 06/2007
2	Hypocalcemia 01/2021 - 01/2018
2	Hypoparathyroidism 01/2021 - 01/2018
2	Disease Progression 02/2019 - 02/2007
2	Hypercalcemia (Milk Alkali Syndrome) 01/2018 - 06/2007
2	Body Weight (Weight, Body) 01/2018 - 03/2010
2	Dilated Cardiomyopathy (Cardiomyopathy, Congestive) 01/2017 - 06/2015
2	Liver Diseases (Liver Disease) 03/2012 - 03/2010
2	Bone Resorption 03/2010 - 05/2003
1	Chronic Pain 03/2024
1	Developmental Dysplasia of the Hip 12/2023
1	Achondroplasia 11/2023
1	Myalgia 01/2023
1	Melorheostosis 12/2022
1	Abscess 01/2022
1	Adrenal Insufficiency (Adrenal Gland Hypofunction) 01/2022
1	Musculoskeletal Diseases (Musculoskeletal Disease) 01/2022
1	Hyperparathyroidism 01/2021
1	Hypopituitarism (Sheehan's Syndrome) 01/2021
1	Hyperphosphatemia 01/2021
1	Autoimmune Polyendocrinopathies (Schmidt Syndrome) 01/2021
1	type 1 familial Hypocalciuric hypercalcemia 01/2021
1	Diarrhea 01/2021
1	Metabolic Diseases (Metabolic Disease) 11/2020
1	Hematologic Diseases (Blood Diseases) 01/2020
1	Leukemia 01/2020
1	Osteosarcoma (Osteogenic Sarcoma) 10/2019
1	Adrenocortical Carcinoma 03/2019
1	Failure to Thrive 02/2019

Drug/Important Bio-Agent (IBA)

17	CalciumIBA 01/2023 - 11/2013
14	Alkaline PhosphataseIBA 03/2024 - 05/2003
14	Vitamin D FDA LinkGeneric 10/2023 - 11/2013
10	N- (4'- fluorobutyrophenone)- 4- (4- chlorophenyl)pyridinium (HPP(+))IBA 03/2024 - 06/2007
10	Phosphates (Orthophosphate)IBA 01/2024 - 09/2015
8	Parathyroid Hormone (Parathormone)IBA 01/2022 - 03/2010
7	burosumabIBA 01/2024 - 01/2018
5	Diphosphonates (Bisphosphonates)IBA 02/2023 - 12/2015
5	Dietary CalciumIBA 12/2022 - 01/2016
4	Proteins (Proteins, Gene)FDA Link 11/2023 - 10/2009
4	Fibroblast Growth Factor-23IBA 01/2022 - 01/2018
4	Phosphorus (Red Phosphorus)IBA 01/2021 - 09/2015
3	asfotase alfaIBA 03/2024 - 01/2019
3	Collagen Type I (Type I Collagen)IBA 11/2023 - 01/2016
3	SteroidsIBA 07/2022 - 10/2013
3	SaltsIBA 01/2022 - 02/2012
3	Monoclonal AntibodiesIBA 01/2022 - 01/2018
3	MicronutrientsIBA 01/2020 - 01/2016
3	EnzymesIBA 01/2019 - 03/2010
2	CollagenIBA 11/2023 - 01/2016
2	Biomarkers (Surrogate Marker)IBA 12/2022 - 05/2003
2	Calcitriol (Calcijex)FDA LinkGeneric 01/2022 - 09/2015
2	Hormones (Hormone)IBA 01/2021 - 01/2021
2	IronIBA 01/2020 - 09/2015
2	MineralsIBA 01/2019 - 09/2007
2	Zoledronic Acid (Zometa)FDA Link 01/2018 - 09/2007
2	Pamidronate (Aredia)FDA LinkGeneric 01/2018 - 01/2016
2	25-hydroxyvitamin DIBA 11/2013 - 03/2010
2	Ergocalciferols (Ergocalciferol)FDA LinkGeneric 03/2012 - 03/2010
2	Cholecalciferol (Vitamin D3)FDA Link 03/2012 - 03/2010
1	Bone Density Conservation AgentsIBA 02/2023
1	hydroxide ionIBA 01/2023
1	Transcription Factors (Transcription Factor)IBA 12/2022
1	alpha2 Subunit Collagen Type IIBA 12/2021
1	RNA Splice SitesIBA 12/2021
1	N-benzyl-N-methyl-dodecan-1-amineIBA 06/2021
1	Epithelial Sodium ChannelsIBA 05/2021
1	NitrogenIBA 04/2021
1	caseinomacropeptideIBA 04/2021
1	Amino Acids FDA Link 04/2021
1	Calcium-Sensing ReceptorsIBA 01/2021
1	ametantrone (HAQ)IBA 11/2020
1	EndopeptidasesIBA 04/2020
1	Complementary DNA (cDNA)IBA 10/2019
1	Androstenedione (4 Androstene 3,17 dione)IBA 03/2019
1	PHEX Phosphate Regulating Neutral EndopeptidaseIBA 01/2019
1	Calcitonin (Calcitonin, Eel)FDA LinkGeneric 01/2018

Therapy/Procedure

19	Therapeutics 01/2024 - 01/2007
2	Aftercare (After-Treatment) 01/2018 - 01/2007
2	Liver Transplantation 03/2012 - 03/2010
1	Subcutaneous Injections 11/2023
1	Enzyme Replacement Therapy 07/2023
1	Diet Therapy (Therapy, Diet) 06/2021
1	Hematopoietic Stem Cell Transplantation 01/2020
1	Orthopedic Procedures 02/2019