Human Preosteoblastic Cell Culture from a Patient with Severe Tumoral Calcinosis-Hyperphosphatemia Due to a New GALNT3 Gene Mutation: Study of In Vitro Mineralization
| LEADER | caa a22 4500 | ||
|---|---|---|---|
| 001 | 605521506 | ||
| 003 | CHVBK | ||
| 005 | 20210128100740.0 | ||
| 007 | cr unu---uuuuu | ||
| 008 | 210128e20150501xx s 000 0 eng | ||
| 024 | 7 | 0 | |a 10.1007/s00223-015-9974-8 |2 doi |
| 035 | |a (NATIONALLICENCE)springer-10.1007/s00223-015-9974-8 | ||
| 245 | 0 | 0 | |a Human Preosteoblastic Cell Culture from a Patient with Severe Tumoral Calcinosis-Hyperphosphatemia Due to a New GALNT3 Gene Mutation: Study of In Vitro Mineralization |h [Elektronische Daten] |c [L. Masi, G. Beltrami, S. Ottanelli, F. Franceschelli, A. Gozzini, R. Zonefrati, G. Galli, S. Ciuffi, C. Mavilia, F. Giusti, G. Marcucci, F. Cioppi, E. Colli, C. Fossi, A. Franchi, C. Casentini, R. Capanna, Maria Brandi] |
| 520 | 3 | |a Human disorders of phosphate (Pi) handling and skeletal mineralization represent a group of rare bone diseases. One of these disease is tumoral calcinosis (TC). In this study, we present the case of a patient with TC with a new GALNT3 gene mutation. We also performed functional studies using an in vitro cellular model. Genomic DNA was extracted from peripheral blood collected from a teenage Caucasian girl affected by TC, and from her parents. A higher capability to form mineralization nodules in vitro was found in human preosteoblastic cells of mutant when compared to wild-type controls. We found a novel homozygous inactivating splice site mutation in intron I (c.516-2a>g). A higher capability to form mineralization nodules in vitro was found in the mutant cells in human preosteoblastic cells when compared to wild-type controls. Understanding the functional significance and molecular physiology of this novel mutation will help to define the role of FGF23 in the control of Pi homeostasis in normal and in pathological conditions. | |
| 540 | |a Springer Science+Business Media New York, 2015 | ||
| 690 | 7 | |a Tumoral calcinosis |2 nationallicence | |
| 690 | 7 | |a Phosphatonin |2 nationallicence | |
| 690 | 7 | |a Extra Skeletal calcification |2 nationallicence | |
| 700 | 1 | |a Masi |D L. |u Metabolic Bone Diseases Unit AOUC-Careggi, Department of Orthopedics, University of Florence, Largo Palagi, 1, 50134, Florence, Italy |4 aut | |
| 700 | 1 | |a Beltrami |D G. |u Department of Orthopedics, Oncologic Unit AOUC-Careggi Hospital, University of Florence, Largo Palagi, 1, 50134, Florence, Italy |4 aut | |
| 700 | 1 | |a Ottanelli |D S. |u Metabolic Bone Diseases Unit AOUC-Careggi, Department of Orthopedics, University of Florence, Largo Palagi, 1, 50134, Florence, Italy |4 aut | |
| 700 | 1 | |a Franceschelli |D F. |u Metabolic Bone Diseases Unit, Department of Surgery and Translational Medicine, University of Florence, Viale Pieraccini, 6, 50134, Florence, Italy |4 aut | |
| 700 | 1 | |a Gozzini |D A. |u Genetics Unit AOUC-Careggi, Department of Genetics, University of Florence, Viale Pieraccini, 6, 50134, Florence, Italy |4 aut | |
| 700 | 1 | |a Zonefrati |D R. |u Metabolic Bone Diseases Unit, Department of Surgery and Translational Medicine, University of Florence, Viale Pieraccini, 6, 50134, Florence, Italy |4 aut | |
| 700 | 1 | |a Galli |D G. |u Metabolic Bone Diseases Unit, Department of Surgery and Translational Medicine, University of Florence, Viale Pieraccini, 6, 50134, Florence, Italy |4 aut | |
| 700 | 1 | |a Ciuffi |D S. |u Metabolic Bone Diseases Unit, Department of Surgery and Translational Medicine, University of Florence, Viale Pieraccini, 6, 50134, Florence, Italy |4 aut | |
| 700 | 1 | |a Mavilia |D C. |u Metabolic Bone Diseases Unit, Department of Surgery and Translational Medicine, University of Florence, Viale Pieraccini, 6, 50134, Florence, Italy |4 aut | |
| 700 | 1 | |a Giusti |D F. |u Metabolic Bone Diseases Unit AOUC-Careggi, Department of Orthopedics, University of Florence, Largo Palagi, 1, 50134, Florence, Italy |4 aut | |
| 700 | 1 | |a Marcucci |D G. |u Metabolic Bone Diseases Unit AOUC-Careggi, Department of Orthopedics, University of Florence, Largo Palagi, 1, 50134, Florence, Italy |4 aut | |
| 700 | 1 | |a Cioppi |D F. |u Metabolic Bone Diseases Unit AOUC-Careggi, Department of Orthopedics, University of Florence, Largo Palagi, 1, 50134, Florence, Italy |4 aut | |
| 700 | 1 | |a Colli |D E. |u Metabolic Bone Diseases Unit AOUC-Careggi, Department of Orthopedics, University of Florence, Largo Palagi, 1, 50134, Florence, Italy |4 aut | |
| 700 | 1 | |a Fossi |D C. |u Metabolic Bone Diseases Unit AOUC-Careggi, Department of Orthopedics, University of Florence, Largo Palagi, 1, 50134, Florence, Italy |4 aut | |
| 700 | 1 | |a Franchi |D A. |u Section of Anatomic Pathology, Department of Surgery and Translational Medicine, University of Florence, Viale Morgagni, 50134, Florence, Italy |4 aut | |
| 700 | 1 | |a Casentini |D C. |u Metabolic Bone Diseases Unit AOUC-Careggi, Department of Orthopedics, University of Florence, Largo Palagi, 1, 50134, Florence, Italy |4 aut | |
| 700 | 1 | |a Capanna |D R. |u Department of Orthopedics, Oncologic Unit AOUC-Careggi Hospital, University of Florence, Largo Palagi, 1, 50134, Florence, Italy |4 aut | |
| 700 | 1 | |a Brandi |D Maria |u Department of Surgery and Translational Medicine, Metabolic Bone Diseases Unit AOUC-Careggi Hospital, University of Florence, Largo Palagi, 1 II Floor, 50134, Florence, Italy |4 aut | |
| 773 | 0 | |t Calcified Tissue International |d Springer US; http://www.springer-ny.com |g 96/5(2015-05-01), 438-452 |x 0171-967X |q 96:5<438 |1 2015 |2 96 |o 223 | |
| 856 | 4 | 0 | |u https://doi.org/10.1007/s00223-015-9974-8 |q text/html |z Onlinezugriff via DOI |
| 898 | |a BK010053 |b XK010053 |c XK010000 | ||
| 900 | 7 | |a Metadata rights reserved |b Springer special CC-BY-NC licence |2 nationallicence | |
| 908 | |D 1 |a research-article |2 jats | ||
| 949 | |B NATIONALLICENCE |F NATIONALLICENCE |b NL-springer | ||
| 950 | |B NATIONALLICENCE |P 856 |E 40 |u https://doi.org/10.1007/s00223-015-9974-8 |q text/html |z Onlinezugriff via DOI | ||
| 950 | |B NATIONALLICENCE |P 700 |E 1- |a Masi |D L. |u Metabolic Bone Diseases Unit AOUC-Careggi, Department of Orthopedics, University of Florence, Largo Palagi, 1, 50134, Florence, Italy |4 aut | ||
| 950 | |B NATIONALLICENCE |P 700 |E 1- |a Beltrami |D G. |u Department of Orthopedics, Oncologic Unit AOUC-Careggi Hospital, University of Florence, Largo Palagi, 1, 50134, Florence, Italy |4 aut | ||
| 950 | |B NATIONALLICENCE |P 700 |E 1- |a Ottanelli |D S. |u Metabolic Bone Diseases Unit AOUC-Careggi, Department of Orthopedics, University of Florence, Largo Palagi, 1, 50134, Florence, Italy |4 aut | ||
| 950 | |B NATIONALLICENCE |P 700 |E 1- |a Franceschelli |D F. |u Metabolic Bone Diseases Unit, Department of Surgery and Translational Medicine, University of Florence, Viale Pieraccini, 6, 50134, Florence, Italy |4 aut | ||
| 950 | |B NATIONALLICENCE |P 700 |E 1- |a Gozzini |D A. |u Genetics Unit AOUC-Careggi, Department of Genetics, University of Florence, Viale Pieraccini, 6, 50134, Florence, Italy |4 aut | ||
| 950 | |B NATIONALLICENCE |P 700 |E 1- |a Zonefrati |D R. |u Metabolic Bone Diseases Unit, Department of Surgery and Translational Medicine, University of Florence, Viale Pieraccini, 6, 50134, Florence, Italy |4 aut | ||
| 950 | |B NATIONALLICENCE |P 700 |E 1- |a Galli |D G. |u Metabolic Bone Diseases Unit, Department of Surgery and Translational Medicine, University of Florence, Viale Pieraccini, 6, 50134, Florence, Italy |4 aut | ||
| 950 | |B NATIONALLICENCE |P 700 |E 1- |a Ciuffi |D S. |u Metabolic Bone Diseases Unit, Department of Surgery and Translational Medicine, University of Florence, Viale Pieraccini, 6, 50134, Florence, Italy |4 aut | ||
| 950 | |B NATIONALLICENCE |P 700 |E 1- |a Mavilia |D C. |u Metabolic Bone Diseases Unit, Department of Surgery and Translational Medicine, University of Florence, Viale Pieraccini, 6, 50134, Florence, Italy |4 aut | ||
| 950 | |B NATIONALLICENCE |P 700 |E 1- |a Giusti |D F. |u Metabolic Bone Diseases Unit AOUC-Careggi, Department of Orthopedics, University of Florence, Largo Palagi, 1, 50134, Florence, Italy |4 aut | ||
| 950 | |B NATIONALLICENCE |P 700 |E 1- |a Marcucci |D G. |u Metabolic Bone Diseases Unit AOUC-Careggi, Department of Orthopedics, University of Florence, Largo Palagi, 1, 50134, Florence, Italy |4 aut | ||
| 950 | |B NATIONALLICENCE |P 700 |E 1- |a Cioppi |D F. |u Metabolic Bone Diseases Unit AOUC-Careggi, Department of Orthopedics, University of Florence, Largo Palagi, 1, 50134, Florence, Italy |4 aut | ||
| 950 | |B NATIONALLICENCE |P 700 |E 1- |a Colli |D E. |u Metabolic Bone Diseases Unit AOUC-Careggi, Department of Orthopedics, University of Florence, Largo Palagi, 1, 50134, Florence, Italy |4 aut | ||
| 950 | |B NATIONALLICENCE |P 700 |E 1- |a Fossi |D C. |u Metabolic Bone Diseases Unit AOUC-Careggi, Department of Orthopedics, University of Florence, Largo Palagi, 1, 50134, Florence, Italy |4 aut | ||
| 950 | |B NATIONALLICENCE |P 700 |E 1- |a Franchi |D A. |u Section of Anatomic Pathology, Department of Surgery and Translational Medicine, University of Florence, Viale Morgagni, 50134, Florence, Italy |4 aut | ||
| 950 | |B NATIONALLICENCE |P 700 |E 1- |a Casentini |D C. |u Metabolic Bone Diseases Unit AOUC-Careggi, Department of Orthopedics, University of Florence, Largo Palagi, 1, 50134, Florence, Italy |4 aut | ||
| 950 | |B NATIONALLICENCE |P 700 |E 1- |a Capanna |D R. |u Department of Orthopedics, Oncologic Unit AOUC-Careggi Hospital, University of Florence, Largo Palagi, 1, 50134, Florence, Italy |4 aut | ||
| 950 | |B NATIONALLICENCE |P 700 |E 1- |a Brandi |D Maria |u Department of Surgery and Translational Medicine, Metabolic Bone Diseases Unit AOUC-Careggi Hospital, University of Florence, Largo Palagi, 1 II Floor, 50134, Florence, Italy |4 aut | ||
| 950 | |B NATIONALLICENCE |P 773 |E 0- |t Calcified Tissue International |d Springer US; http://www.springer-ny.com |g 96/5(2015-05-01), 438-452 |x 0171-967X |q 96:5<438 |1 2015 |2 96 |o 223 | ||