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Somatic and germline CACNA1D calcium channel mutations in aldosterone-producing adenomas and primary aldosteronism
De novo germline mutations at identical positions in two children with a previously undescribed syndrome featuring primary aldosteronism and neuromuscular abnormalities are identified and implicate gain-of-function Ca2+ channel mutations in APAs and primary a Aldosterone-producing adenomas. Expand
Defective pro alpha 2(I) collagen synthesis in a recessive mutation in mice: a model of human osteogenesis imperfecta.
- S. Chipman, H. O. Sweet, +6 authors J. Shapiro
- Biology, Medicine
- Proceedings of the National Academy of Sciences…
- 1 March 1993
A strain of mice with a nonlethal recessively inherited mutation (oim) that results in phenotypic and biochemical features that simulate moderate to severe human OI is described, and the oim mouse will facilitate the study of type I collagen-related skeletal disease. Expand
Osteogenesis Imperfecta: A Translational Approach to Brittle Bone Disease
Ethical issues related to OI are discussed, as is the importance of nutrition in managing the OI child and the O I adult, and the role of physical medicine and rehabilitation for OI patients is presented, along with the current status of OI medical treatment and the prospects for genetic engineering in the future. Expand
Phenotypic Variability of Osteogenesis Imperfecta Type V Caused by an IFITM5 Mutation
- J. Shapiro, Caressa D Lietman, +14 authors Brendan H. Lee
- Medicine, Biology
- Journal of bone and mineral research : the…
- 18 June 2013
In a large cohort of osteogenesis imperfecta type V (OI type V) patients (17 individuals from 12 families), the same mutation in the 5′ untranslated region (5′UTR) of the interferon‐induced transmembrane protein 5 (IFITM5) gene is identified and a detailed description of their phenotype is provided. Expand
Evaluation of teriparatide treatment in adults with osteogenesis imperfecta.
- E. Orwoll, J. Shapiro, +9 authors Brendan H. Lee
- The Journal of clinical investigation
- 3 February 2014
Osteoporosis Imperfecta patients with OI, particularly those with less severe disease (type I), displayed a teriparatide-induced anabolic response, as well as increased hip and spine aBMD, vertebral v BMD, and estimated vertebral strength. Expand
Osteogenesis imperfecta: Epidemiology and pathophysiology
Questions exist regarding the difference in treatment response between children and adults with OI, and other treatment options, such as recombinant human parathyroid hormone, Rank ligand inhibitors, and stem cell technology, are being evaluated or are of future investigative interest. Expand
Treatment with Zoledronic Acid Ameliorates Negative Geometric Changes in the Proximal Femur following Acute Spinal Cord Injury
It is concluded that a single administration of zoledronic acid will ameliorate bone loss and maintain parameters of bone strength at the three proximal femur sites for 6 months and at the femur intertrochanteric and shaft sites for 12 months. Expand
Cardiovascular involvement in osteogenesis imperfecta.
Aortic root dilatation appears to represent a distinct phenotypic trait in patients with OI that is nonprogressive and occurs in about 12% of affected individuals, which is different from that seen in a normal adult population. Expand
Hearing Loss in Osteogenesis Imperfecta: Characteristics and Treatment Considerations
Hearing loss in OI may be conductive, mixed, or sensorineural and is more common by the second or third decade and treatment options such as hearing aids, stapes surgery, and cochlear implants are discussed. Expand
Bisphosphonates as a supplement to exercise to protect bone during long-duration spaceflight
The combination of exercise plus an antiresoptive drug may be useful for protecting bone health during long-duration spaceflight. Expand