- Hypophosphatemia: the common denominator of all ricketsDov Tiosano
Meyer Children s Hospital, Rambam Medical Center, POB 9602, 31096, Haifa, Israel
J Bone Miner Metab 27:392-401. 2009....
- Vitamin D action: lessons learned from hereditary 1,25-dihydroxyvitamin-D-resistant rickets patientsDov Tiosano
Pediatric Endocrinology, Meyer Children s Hospital, Rambam Healthcare Campus, Haifa, Israel
Curr Opin Endocrinol Diabetes Obes 19:452-9. 2012..This article summarizes the role of vitamin D in calcium absorption, rennin-angiotensin system (RAS), and cardiac state in HVDRR patients...
- The role of vitamin d receptor in innate and adaptive immunity: a study in hereditary vitamin d-resistant rickets patientsDov Tiosano
MD, Division of Pediatric Endocrinology, Meyer Children s Hospital, Rambam Health Care Campus, Haifa, 33705, Israel
J Clin Endocrinol Metab 98:1685-93. 2013..The underlying VDR-independent compensatory mechanisms that protect HVDRR patients from infections and autoimmune diseases remain undetermined...
- Calcium absorption, kinetics, bone density, and bone structure in patients with hereditary vitamin D-resistant ricketsDov Tiosano
Division of Pediatric Endocrinology, Meyer Children s Hospital, Rambam Health Care Campus, Haifa 31096, Israel
J Clin Endocrinol Metab 96:3701-9. 2011..Surprisingly, spontaneous recovery of calcium metabolism occurs after the end of puberty without the need for further calcium supplementation...
- Fibroblast growth factor-23 and phosphorus metabolismDov Tiosano
Pediatric Endocrinology, Meyer Children s Hospital, Rambam Medical Center, Rappaport Family Faculty of Medicine, Technion Israel Institute of Technology, Haifa, Israel
Endocr Dev 21:67-77. 2011..This review summarizes the role of the FGF-23 axis on phosphorus metabolism, and presents the clinical entities that arise from activation or inactivation of the FGF-23 axis...
- The renin-angiotensin system, blood pressure, and heart structure in patients with hereditary vitamin D-resistance rickets (HVDRR)Dov Tiosano
Division of Pediatric Endocrinology, Meyer Children s Hospital, Rambam Health Care Campus, Haifa, Israel
J Bone Miner Res 26:2252-60. 2011..These findings reveal that 6- to 36-year-old humans with HVDRR have normal renin and ACE activity, mild but nonsignificant elevation of AT-II, normal aldosterone levels, and no hypertension or gross heart abnormalities...
- Ovarian adrenal rest tumor in a congenital adrenal hyperplasia patient with adrenocorticotropin hypersecretion following adrenalectomyDov Tiosano
Meyer Children s Hospital, Rambam Medical Center, Haifa, Israel
Horm Res Paediatr 74:223-8. 2010..Ovarian adrenal rest tumors (OARTs) are rare in contrast to testicular adrenal rest tumors. We report a case of OART in a patient with congenital adrenal hyperplasia who developed Nelson's syndrome after bilateral adrenalectomy...
- Metabolic evidence for impaired 17alpha-hydroxylase activity in a kindred bearing the E305G mutation for isolate 17,20-lyase activityDov Tiosano
Pediatric Endocrinology, Metabolic Biochemistry Laboratory and Genetics Institute, Rambam Medical Center, Meyer Children s Hospital, Technion Israel Institute of Technology, 9602 Haifa, Israel
Eur J Endocrinol 158:385-92. 2008..Expression studies suggested intact 17alpha-hydroxylase activity which was at odds with subnormal tetracosactrin stimulated cortisol in the patients...
- Recombinant thyrotropin in the diagnosis of congenital hypothyroidismDov Tiosano
Division of Endocrinology, Meyer Children s Hospital, POB 6092, and Technion Israel Institute of Technology, Haifa 31096, Israel
J Clin Endocrinol Metab 92:1434-7. 2007..When uncertainty persists, treatment is commenced, and the definitive diagnosis of congenital hypothyroidism is deferred to the age of 3 yr...
- Endocrine complications of thalassemiaD Tiosano
Department of Pediatrics, Rambam Medical Center, Haifa, Israel
J Endocrinol Invest 24:716-23. 2001..Endocrine abnormalities should be monitored carefully and a thorough endocrine evaluation should be carried out yearly in every patients to detect subclinical endocrinopaties...
- The role of the vitamin D receptor in regulating vitamin D metabolism: a study of vitamin D-dependent rickets, type IID Tiosano
Department of Pediatrics, Rambam Medical Center, Haifa 31096, Israel
J Clin Endocrinol Metab 86:1908-12. 2001..Assessment of the influence of 1,25-(OH)(2)D shows reciprocal control of enzyme activity in man, suppressing 1-OHase and stimulating 24-OHase activity...
- Hypothalamic regulation of adiposity: the role of 11beta-hydroxysteroid dehydrogenase type 1Z Hochberg
Division of Endocrinology, Meyer Children s Hospital, PO Box 9602, Rambam Medical Center, Haifa 31096, Israel
Horm Metab Res 36:365-9. 2004..Inhibition of 11beta-HSD-1 suppresses preadipocyte differentiation into mature adipocytes, and may provide a therapeutic tool...
- SERKAL syndrome: an autosomal-recessive disorder caused by a loss-of-function mutation in WNT4Hannah Mandel
Metabolic Disease Unit, Meyer Children s Hospital, Haifa 31096, Israel
Am J Hum Genet 82:39-47. 2008..Taken together with previous observations in animal models, the present data attribute a pivotal role to WNT4 signaling during organogenesis in humans...
- 11 beta-Hydroxysteroid dehydrogenase activity in hypothalamic obesityDov Tiosano
Departments of Pediatrics, Meyer Children s Hospital, Haifa 31096, Israel
J Clin Endocrinol Metab 88:379-84. 2003..We propose that deficiency of hypothalamic messengers after surgical injury induces a paracrine/autocrine effect of enhanced glucocorticoid activity due to up-regulated 11 beta-HSD1 activity...
- Hereditary hypophosphatemic rickets with hypercalciuria is caused by mutations in the sodium-phosphate cotransporter gene SLC34A3Bettina Lorenz-Depiereux
Institute of Human Genetics, GSF National Research Center for Environment and Health, Munich Neuherberg, Germany
Am J Hum Genet 78:193-201. 2006..Identification of the gene mutated in a further form of hypophosphatemia adds to the understanding of phosphate homeostasis and may help to elucidate the interaction of the proteins involved in this pathway...
- CYP17 mutation E305G causes isolated 17,20-lyase deficiency by selectively altering substrate bindingDaniel P Sherbet
Department of Internal Medicine, University of Texas Southwestern Medical Center, Dallas, Texas 75390 8857, USA
J Biol Chem 278:48563-9. 2003..Mutation E305G provides genetic evidence that androstenedione formation from 17alpha-hydroxyprogesterone via the minor delta4-steroid pathway alone is not sufficient for complete formation of the male phenotype in humans...