rickets

Summary

Summary: A condition caused by deficiency of VITAMIN D, especially in infancy and childhood, with disturbance of normal ossification. The disease is marked by bending and distortion of the bones under muscular action, by the formation of nodular enlargements on the ends and sides of the bones, by delayed closure of the fontanels, pain in the muscles, and sweating of the head. Vitamin D and sunlight together with an adequate diet are curative, provided that the parathyroid glands are functioning properly. (Dorland, 27th ed)

Top Publications

  1. pmc Resurrection of vitamin D deficiency and rickets
    Michael F Holick
    Department of Medicine, Section of Endocrinology, Nutrition, and Diabetes, and Vitamin D, Skin and Bone Research Laboratory, Boston University Medical Center, Boston, Massachusetts 02118, USA
    J Clin Invest 116:2062-72. 2006
  2. ncbi FGF23 is elevated in Gambian children with rickets
    Ann Prentice
    MRC Keneba, The Gambia
    Bone 42:788-97. 2008
  3. pmc Targeted ablation of the vitamin D receptor: an animal model of vitamin D-dependent rickets type II with alopecia
    Y C Li
    Endocrine Unit, Massachusetts General Hospital and Harvard Medical School, 15 Fruit Street, Boston, MA 02114, USA
    Proc Natl Acad Sci U S A 94:9831-5. 1997
  4. pmc A novel nonsense mutation in the DMP1 gene identified by a genome-wide association study is responsible for inherited rickets in Corriedale sheep
    Xia Zhao
    Department of Animal Science and Center for Integrated Animal Genomics, Iowa State University, Ames, Iowa, United States of America
    PLoS ONE 6:e21739. 2011
  5. pmc Loss of DMP1 causes rickets and osteomalacia and identifies a role for osteocytes in mineral metabolism
    Jian Q Feng
    Oral Biology, University of Missouri Kansas City, Kansas City, Missouri 64108, USA
    Nat Genet 38:1310-5. 2006
  6. ncbi Vitamin D across the lifecycle: physiology and biomarkers
    Ann Prentice
    Medical Research Council Human Nutrition Research, Cambridge, United Kingdom
    Am J Clin Nutr 88:500S-506S. 2008
  7. pmc Comparison of metabolism of vitamins D2 and D3 in children with nutritional rickets
    Tom D Thacher
    Department of Family Medicine, Mayo Clinic, Rochester, MN 55905, USA
    J Bone Miner Res 25:1988-95. 2010
  8. ncbi FGF-23 transgenic mice demonstrate hypophosphatemic rickets with reduced expression of sodium phosphate cotransporter type IIa
    Takashi Shimada
    Pharmaceutical Research Laboratories, Kirin Brewery Co Ltd, 3 Miyahara, Takasaki, 370 1295 Gunma, Japan
    Biochem Biophys Res Commun 314:409-14. 2004
  9. ncbi Incidence of vitamin D deficiency rickets among Australian children: an Australian Paediatric Surveillance Unit study
    Craig F Munns
    Institute of Endocrinology and Diabetes, Children s Hospital at Westmead, Sydney, NSW
    Med J Aust 196:466-8. 2012
  10. ncbi Vitamin D &/or calcium deficiency rickets in infants & children: a global perspective
    John M Pettifor
    Department of Paediatrics, Chris Hani Baragwanath Hospital and the University of the Witwatersrand Johannesburg, South Africa
    Indian J Med Res 127:245-9. 2008

Detail Information

Publications303 found, 100 shown here

  1. pmc Resurrection of vitamin D deficiency and rickets
    Michael F Holick
    Department of Medicine, Section of Endocrinology, Nutrition, and Diabetes, and Vitamin D, Skin and Bone Research Laboratory, Boston University Medical Center, Boston, Massachusetts 02118, USA
    J Clin Invest 116:2062-72. 2006
    The epidemic scourge of rickets in the 19th century was caused by vitamin D deficiency due to inadequate sun exposure and resulted in growth retardation, muscle weakness, skeletal deformities, hypocalcemia, tetany, and seizures...
  2. ncbi FGF23 is elevated in Gambian children with rickets
    Ann Prentice
    MRC Keneba, The Gambia
    Bone 42:788-97. 2008
    ..23 (FGF23) is a phosphaturic factor that is elevated in several diseases associated with hypophosphatemia and rickets. Rickets in the absence of vitamin D deficiency has been reported in African and Asian populations with a low ..
  3. pmc Targeted ablation of the vitamin D receptor: an animal model of vitamin D-dependent rickets type II with alopecia
    Y C Li
    Endocrine Unit, Massachusetts General Hospital and Harvard Medical School, 15 Fruit Street, Boston, MA 02114, USA
    Proc Natl Acad Sci U S A 94:9831-5. 1997
    ..Studies in kindreds with VDR mutations (vitamin D-dependent rickets type II, VDDR II) have demonstrated hypocalcemia, hyperparathyroidism, rickets, and osteomalacia...
  4. pmc A novel nonsense mutation in the DMP1 gene identified by a genome-wide association study is responsible for inherited rickets in Corriedale sheep
    Xia Zhao
    Department of Animal Science and Center for Integrated Animal Genomics, Iowa State University, Ames, Iowa, United States of America
    PLoS ONE 6:e21739. 2011
    Inherited rickets of Corriedale sheep is characterized by decreased growth rate, thoracic lordosis and angular limb deformities. Previous outcross and backcross studies implicate inheritance as a simple autosomal recessive disorder...
  5. pmc Loss of DMP1 causes rickets and osteomalacia and identifies a role for osteocytes in mineral metabolism
    Jian Q Feng
    Oral Biology, University of Missouri Kansas City, Kansas City, Missouri 64108, USA
    Nat Genet 38:1310-5. 2006
    ..Both Dmp1-null mice and individuals with a newly identified disorder, autosomal recessive hypophosphatemic rickets, manifest rickets and osteomalacia with isolated renal phosphate-wasting associated with elevated fibroblast ..
  6. ncbi Vitamin D across the lifecycle: physiology and biomarkers
    Ann Prentice
    Medical Research Council Human Nutrition Research, Cambridge, United Kingdom
    Am J Clin Nutr 88:500S-506S. 2008
    ..D (supply), the plasma concentration of parathyroid hormone (function), and the presence or absence of rickets (outcome)...
  7. pmc Comparison of metabolism of vitamins D2 and D3 in children with nutritional rickets
    Tom D Thacher
    Department of Family Medicine, Mayo Clinic, Rochester, MN 55905, USA
    J Bone Miner Res 25:1988-95. 2010
    Children with calcium-deficiency rickets may have increased vitamin D requirements and respond differently to vitamin D(2) and vitamin D(3)...
  8. ncbi FGF-23 transgenic mice demonstrate hypophosphatemic rickets with reduced expression of sodium phosphate cotransporter type IIa
    Takashi Shimada
    Pharmaceutical Research Laboratories, Kirin Brewery Co Ltd, 3 Miyahara, Takasaki, 370 1295 Gunma, Japan
    Biochem Biophys Res Commun 314:409-14. 2004
    ..factor of tumor-induced osteomalacia and also as a responsible gene for autosomal dominant hypophosphatemic rickets. To clarify the pathophysiological roles of FGF-23 in these diseases, we generated its transgenic mice...
  9. ncbi Incidence of vitamin D deficiency rickets among Australian children: an Australian Paediatric Surveillance Unit study
    Craig F Munns
    Institute of Endocrinology and Diabetes, Children s Hospital at Westmead, Sydney, NSW
    Med J Aust 196:466-8. 2012
    To determine the incidence of and factors associated with vitamin D deficiency rickets in Australian children.
  10. ncbi Vitamin D &/or calcium deficiency rickets in infants & children: a global perspective
    John M Pettifor
    Department of Paediatrics, Chris Hani Baragwanath Hospital and the University of the Witwatersrand Johannesburg, South Africa
    Indian J Med Res 127:245-9. 2008
    ..light irradiation plays in vitamin D formation that rational and appropriate therapy became available and rickets was all but eradicated in a number of developed countries...
  11. ncbi Prevalence of vitamin D deficiency rickets in adolescent school girls in Western region, Saudi Arabia
    Aisha M Siddiqui
    Department of Medicine, King Abdulaziz University Hospital, PO Box 80215, Jeddah 21589, Kingdom of Saudi Arabia
    Saudi Med J 28:441-4. 2007
    To determine the prevalence of vitamin D deficiency rickets among female adolescents and assess its relation to calcium intake and sun exposure.
  12. ncbi Hypophosphatemia: the common denominator of all rickets
    Dov Tiosano
    Meyer Children s Hospital, Rambam Medical Center, POB 9602, 31096, Haifa, Israel
    J Bone Miner Metab 27:392-401. 2009
    b>Rickets is a disease of the hypertrophic chondrocytes in the growth plate and is caused by hypophosphatemia-a derived defect in terminal chondrocyte apoptosis...
  13. pmc Vitamin D-deficiency rickets among children in Canada
    Leanne M Ward
    Department of Pediatrics, Children s Hospital of Eastern Ontario, University of Ottawa, Ottawa, Ont
    CMAJ 177:161-6. 2007
    Based on regional and anecdotal reports, there is concern that vitamin D-deficiency rickets is persistent in Canada despite guidelines for its prevention...
  14. ncbi The autosomal dominant hypophosphatemic rickets R176Q mutation in fibroblast growth factor 23 resists proteolytic cleavage and enhances in vivo biological potency
    Xiu Ying Bai
    Division of Endocrinology, Department of Medicine and Lady Davis Institute for Medical Research, Sir Mortimer B Davis Jewish General Hospital, McGill University, Montreal, Quebec H3T 1E2, Canada
    J Biol Chem 278:9843-9. 2003
    Missense mutations in fibroblast growth factor 23 (FGF23) are the cause of autosomal dominant hypophosphatemic rickets (ADHR)...
  15. ncbi Nutritional rickets: deficiency of vitamin D, calcium, or both?
    John M Pettifor
    Medical Research Council Mineral Metabolism Research Unit, Department of Paediatrics, Chris Hani Baragwanath Hospital and the University of the Witwatersrand, Johannesburg, South Africa
    Am J Clin Nutr 80:1725S-9S. 2004
    Nutritional rickets remains a public health problem in many countries, despite dramatic declines in the prevalence of the condition in many developed countries since the discoveries of vitamin D and the role of ultraviolet light in ..
  16. ncbi Prevention of rickets and vitamin D deficiency in infants, children, and adolescents
    Carol L Wagner
    American College of Obstetrics and Gynecology
    Pediatrics 122:1142-52. 2008
    b>Rickets in infants attributable to inadequate vitamin D intake and decreased exposure to sunlight continues to be reported in the United States. There are also concerns for vitamin D deficiency in older children and adolescents...
  17. ncbi Targeted inactivation of the 25-hydroxyvitamin D(3)-1(alpha)-hydroxylase gene (CYP27B1) creates an animal model of pseudovitamin D-deficiency rickets
    O Dardenne
    Genetics Unit, Shriners Hospital for Children, Montreal, Quebec, Canada H3G 1A6
    Endocrinology 142:3135-41. 2001
    Pseudovitamin D-deficiency rickets is caused by mutations in the cytochrome P450 enzyme, 25-hydroxyvitamin D(3)-1alpha-hydroxylase (1alpha-OHase). Patients with the disease exhibit growth retardation, rickets, and osteomalacia...
  18. pmc The effect of vitamin D2 and vitamin D3 on intestinal calcium absorption in Nigerian children with rickets
    Tom D Thacher
    Department of Family Medicine, Mayo Clinic, 200 First Street SW, Rochester, Minnesota 55905, USA
    J Clin Endocrinol Metab 94:3314-21. 2009
    Children with calcium-deficiency rickets have high 1,25-dihydroxyvitamin D values.
  19. ncbi Normalization of mineral ion homeostasis by dietary means prevents hyperparathyroidism, rickets, and osteomalacia, but not alopecia in vitamin D receptor-ablated mice
    Y C Li
    Endocrine Unit, Massachusetts General Hospital, Harvard Medical School, Boston 02114, USA
    Endocrinology 139:4391-6. 1998
    ..VDR-ablated animals fed this diet did not develop rickets or osteomalacia...
  20. pmc Follow-up study of Gambian children with rickets-like bone deformities and elevated plasma FGF23: possible aetiological factors
    Vickie Braithwaite
    MRC Human Nutrition Research, Elsie Widdowson Laboratory, Cambridge, UK
    Bone 50:218-25. 2012
    We have previously reported on a case-series of children (n=46) with suspected calcium-deficiency rickets who presented in The Gambia with rickets-like bone deformities...
  21. pmc Iron modifies plasma FGF23 differently in autosomal dominant hypophosphatemic rickets and healthy humans
    Erik A Imel
    Department of Medicine, Indiana University School of Medicine, 541 North Clinical Drive, CL 459, Indianapolis, Indiana 46202, USA
    J Clin Endocrinol Metab 96:3541-9. 2011
    In autosomal dominant hypophosphatemic rickets (ADHR), fibroblast growth factor 23 (FGF23) resists cleavage, causing increased plasma FGF23 levels...
  22. ncbi Diagnosis of rickets and reassessment of prevalence among rural children in northern China
    Mark A Strand
    Medical Programs Department, Shanxi Evergreen Service, Taiyuan, Shanxi, China
    Pediatr Int 49:202-9. 2007
    Rates of rickets from 15.9 to 26.7% have been reported in China.
  23. ncbi Rickets
    M Zulf Mughal
    Department of Paediatric Endocrinology, Royal Manchester Children s Hospital, Central Manchester University Hospitals NHS Foundation Trust, Oxford Road, Manchester, M13 9WL, UK
    Curr Osteoporos Rep 9:291-9. 2011
    b>Rickets is disorder of a growing child arising from disorders that result in impaired apoptosis of hypertrophic cells and mineralization of the growth plate. Rickets due to nutritional causes remains an important global problem...
  24. ncbi Vitamin D deficiency--it's more than rickets
    Frank R Greer
    J Pediatr 143:422-3. 2003
  25. ncbi Rickets: vitamin D and calcium deficiency
    Tom D Thacher
    J Bone Miner Res 22:638; author reply 639. 2007
  26. ncbi Early and severe presentation of vitamin D deficiency and nutritional rickets among hospitalized infants and the effective factors
    Hasan Tezer
    Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey
    Turk J Pediatr 51:110-5. 2009
    Nutritional rickets is re-emerging as a significant health problem among children. We determined the frequency of nutritional rickets and vitamin D deficiency among hospitalized children and the effective factors...
  27. ncbi Rickets in exclusively breast fed babies
    Meenakshi Girish
    Shubham Enclave, Darda Marg, Rahate Colony, Nagpur, 440022, India
    Indian J Pediatr 75:641-3. 2008
    ..In this study, twenty cases of nutritional rickets were diagnosed in exclusively breast fed babies between December 2003 and December 2006...
  28. ncbi Hypocalcemic rickets: an unusual cause of dilated cardiomyopathy
    D I Price
    Department of Pediatrics, Division of Cardiology, University of Mississippi Medical Center, 2500 North State Street, Jackson, MS 39216, USA
    Pediatr Cardiol 24:510-2. 2003
    We report a breast-fed infant with clinical evidence of rickets and with dilated cardiomyopathy who responded well to supplemental calcium and vitamin D. We believe that this is the first report of such an association in an American child.
  29. ncbi No enzyme activity of 25-hydroxyvitamin D3 1alpha-hydroxylase gene product in pseudovitamin D deficiency rickets, including that with mild clinical manifestation
    S Kitanaka
    Institute of Molecular and Cellular Biosciences, The University of Tokyo, Japan
    J Clin Endocrinol Metab 84:4111-7. 1999
    Pseudovitamin D deficiency rickets (PDDR) is an autosomal recessive disorder caused by defect in the activation of vitamin D...
  30. pmc Nutritional rickets
    Behzat Ozkan
    Ataturk University, Faculty of Medicine, Department of Pediatric Endocrinology, Erzurum, Turkey
    J Clin Res Pediatr Endocrinol 2:137-43. 2010
    Nutritional rickets (NR) is still the most common form of growing bone disease despite the efforts of health care providers to reduce the incidence of the disease...
  31. pmc Case report of 5 siblings: malnutrition? Rickets? DiGeorge syndrome? Developmental delay?
    David K Cundiff
    Department of Internal Medicine, Los Angeles County, USC Medical Center, Los Angeles, CA, USA
    Nutr J 5:1. 2006
    ..Both parents declined plea bargains and plan to defend themselves in court...
  32. ncbi Vitamin D deficiency in children and its management: review of current knowledge and recommendations
    Madhusmita Misra
    Pediatric Endocrine and Neuroendocrine Units, Massachusetts General Hospital, Boston, Massachusetts 02114, USA
    Pediatrics 122:398-417. 2008
    ....
  33. ncbi The role of vitamin D in paediatric bone health
    John M Pettifor
    MRC Mineral Metabolism Research Unit, Department of Paediatrics, School of Clinical Medicine, Faculty of Health Sciences, University of the Witwatersrand, York Road, Parktown 2193, Johannesburg, South Africa
    Best Pract Res Clin Endocrinol Metab 25:573-84. 2011
    ..Its role in the development of rickets and hypocalcaemia in infants and young children, in particular, in many part of the world is well known, and the ..
  34. ncbi Vitamin D, cod-liver oil, sunlight, and rickets: a historical perspective
    Kumaravel Rajakumar
    Department of Pediatrics, Children s Hospital of Pittsburgh, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania 15213 2583, USA
    Pediatrics 112:e132-5. 2003
    b>Rickets, a disease of vitamin D deficiency, is rarely confronted by the practicing pediatrician in the United States today...
  35. ncbi The frequency of nutritional rickets among hospitalized infants and its relation to respiratory diseases
    Abdelhamid S Najada
    Department of Pediatrics, Queen Alia Hospital, Amman, Jordan
    J Trop Pediatr 50:364-8. 2004
    This case control study was conducted to determine the frequency of nutritional rickets among hospitalized infants and to assess their relation to respiratory diseases...
  36. ncbi Non-azotemic refractory rickets in Indian children
    Anurag Bajpai
    Division of Pediatric Nephrology, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi 110 02, India
    Indian Pediatr 42:23-30. 2005
    In order to examine the etiology of refractory rickets, we evaluated the case records of patients presenting between 1990 and 2002. Subjects with impaired renal functions were excluded. Of 131 patients, 25...
  37. ncbi Linear growth in relation to the circulating concentrations of insulin-like growth factor I, parathyroid hormone, and 25-hydroxy vitamin D in children with nutritional rickets before and after treatment: endocrine adaptation to vitamin D deficiency
    Ashraf T Soliman
    Division of Pediatric Endocrinology, Hamad Medical Centre, P O Box 3050, Doha, Qatar
    Metabolism 57:95-102. 2008
    ..of the study was to determine the degree of linear growth retardation of patients with vitamin D deficiency rickets at presentation and the magnitude of catch-up growth in relation to their calcium (Ca) homeostasis and hormones ..
  38. ncbi Maternal vitamin D status: implications for the development of infantile nutritional rickets
    Kebashni Thandrayen
    MRC Mineral Metabolism Research Unit, Department of Pediatrics, Faculty of Health Sciences, University of Witwatersrand, Johannesburg, South Africa
    Endocrinol Metab Clin North Am 39:303-20, table of contents. 2010
    ..the vitamin D status of the infant and their risk of developing vitamin D deficiency and infantile nutritional rickets. There is evidence that the current supplementation recommendations, particularly for pregnant and lactating ..
  39. ncbi Rickets in cation-sensing receptor-deficient mice: an unexpected skeletal phenotype
    S C Garner
    Division of Nephrology, Department of Medicine, Duke University Medical Center, Durham, North Carolina 27710, USA
    Endocrinology 142:3996-4005. 2001
    ..Rather, rickets was the predominant skeletal abnormality in these animals, as evidenced by a widened zone of hypertrophic ..
  40. ncbi Hypocalcemic rickets and dilated cardiomyopathy: case reports and review of literature
    Jennifer Brown
    Division of Pediatrics, Children s National Medical Center, 111 Michigan Avenue N W, Washington, DC 20010, USA
    Pediatr Cardiol 30:818-23. 2009
    ..case reports published of children presenting with dilated cardiomyopathy (DCM) in the setting of undiagnosed rickets. Although there has been an increased prevalence of rickets in the United States, there has been only one ..
  41. ncbi Nutritional rickets in developing countries
    John M Pettifor
    Department of Paediatrics, Chris Hani Baragwanath Hospital, Johannesburg, South Africa
    Forum Nutr 56:176-8. 2003
  42. pmc Radiological and biochemical resolution of nutritional rickets with calcium
    L M Oginni
    Department of Orthopaedic Surgery, College of Health Sciences, Obafemi Awolowo University, Ile Ife, Nigeria
    Arch Dis Child 88:812-7; discussion 812-7. 2003
    To determine the response to oral calcium in Nigerian children with rickets.
  43. ncbi [Rickets in a child]
    Harpa Kristinsdóttir
    Laeknadeild Háskóla Islands
    Laeknabladid 97:477-80. 2011
    Vitamin D is necessary for normal bone growth. Deficiency of vitamin D can lead to rickets in children and osteomalacia in adults...
  44. ncbi [Association between vitamin D receptor gene polymorphism and vitamin D deficiency rickets]
    Sheng hu Wu
    Department of Child Health Care, Shanghai Institute for Pediatric Research, Xinhua Hospital, Second Medical University, Shanghai 200092, China
    Zhongguo Dang Dai Er Ke Za Zhi 8:121-4. 2006
    To explore the genetic susceptibility of children to vitamin D deficiency rickets through studying the association between Vitamin D receptor (VDR) gene polymorphism and vitamin D deficiency rickets.
  45. ncbi [Association of the vitamin D receptor gene start codon polymorphism with delayed rickets]
    Juan Juan Lu
    Department of Pediatrics, Lanzhou University First Hospital, Lanzhou 730000, China
    Zhonghua Er Ke Za Zhi 45:46-9. 2007
    Delayed rickets is a special type of vitamin D deficiency, the occurrences of delayed rickets mainly relate to vitamin D deficiency, but whether there is hereditary susceptibility of children to development of delayed rickets is unknown...
  46. ncbi [Vitamin D receptor gene polymorphisms and vitamin D deficiency rickets]
    Sheng hu Wu
    Department of Child Health Care, Shanghai Children s Medical Center, Shanghai Second Medical University, Shanghai 200092, China
    Zhongguo Dang Dai Er Ke Za Zhi 8:83-inside back cover. 2006
  47. ncbi [Association of the vitamin D receptor gene start codon polymorphism with vitamin D deficiency rickets]
    Hua Jun Lu
    Department of Pediatrics, The First Affiliated Hospital of Kunming Medical College, Kunming, 650032, China
    Zhonghua Er Ke Za Zhi 41:493-6. 2003
    Vitamin D deficiency rickets often causes growth retardation, impaired bone formation and hypocalcemia in children...
  48. ncbi Rickets among children of a coastal area of Bangladesh
    M L Kabir
    Institute of Child and Mother Health, Bangladesh
    Mymensingh Med J 13:53-8. 2004
    ..Face to face interview of the parents was taken and the children were examined for evidences of rickets. Serum calcium, phosphorus, alkaline phosphatase (ALP) were estimated and radiology of limbs were done in all ..
  49. pmc SOLAR ultraviolet radiation and vitamin D: a historical perspective
    Kumaravel Rajakumar
    Department of Pediatrics, University of Pittsburgh School of Medicine, Pittsburgh, PA 15213, USA
    Am J Public Health 97:1746-54. 2007
    b>Rickets, the state of vitamin D deficiency, has reemerged as a potential problem in the United States...
  50. ncbi The rachitic bone
    Frank Rauch
    Genetics Unit, Shriners Hospital for Children, Montreal, Quebec, Canada
    Endocr Dev 6:69-79. 2003
  51. ncbi Ectopic thymic parathyroid adenoma and vitamin D deficiency rickets: a 5-year-follow-up case report and review of literature
    Pisit Pitukcheewanont
    The Center for Endocrinology, Diabetes and Metabolism, Department of Pediatrics, Childrens Hospital Los Angeles, Keck School of Medicine, University of Southern California, 4650 Sunset Boulevard MS 61, Los Angeles, CA 90027, USA
    Bone 42:819-24. 2008
    Sixteen patients with primary hyperparathyroidism presenting as rickets have so far been reported in the English literature. However, no report of an ectopic thymic parathyroid adenoma presenting as rickets has been published...
  52. ncbi Vitamin D deficiency rickets and osteomalacia in Israel
    Yosef Weisman
    Isr Med Assoc J 5:289-90. 2003
  53. ncbi Studies on rickets and osteomalacia in Bactrian camels (Camelus bactrianus)
    Liu Zongping
    College of Veterinary Medicine, Yangzhou University, Yangzhou, Jiangsu 225009, PR China
    Vet J 169:444-53. 2005
    Epidemiological studies have indicated incidences of 32.9% and 27.8% for rickets and osteomalacia, respectively, in Bactrian camels (Camelus bactrianus), but there is an increased incidence under drought conditions, sometimes reaching 75%..
  54. ncbi Vitamin D receptor gene polymorphisms in Turkish children with vitamin D deficient rickets
    Gamze Bora
    Departments of Medical Biology, Hacettepe University Faculty of Medicine, Ankara, Turkey
    Turk J Pediatr 50:30-3. 2008
    Vitamin D deficient rickets is prevalent in Turkey and a considerable number of children are at risk of growth retardation, impaired bone formation and fracture...
  55. ncbi Pediatrician patterns of prescribing vitamin supplementation for infants: do they contribute to rickets?
    Marsha L Davenport
    Pediatrics 113:179-80. 2004
  56. ncbi Vitamin D receptor polymorphism among rickets children in Mongolia
    Akie Kaneko
    Health Promotion, Division of Public Health, Graduate School of Tokyo Medical and Dental University, Yushima, Tokyo, Japan
    J Epidemiol 17:25-9. 2007
    It was reported that 32% of children under five years old in Mongolia had symptoms of rickets. Vitamin D receptor (VDR) gene polymorphism has received attention in relation to bone metabolism...
  57. ncbi Celiac disease presenting as rickets in Saudi children
    Asaad Assiri
    Department of Pediatric, King Khalid University Hospital, King Saud University, Riyadh, Saudi Arabia
    Ann Saudi Med 33:49-51. 2013
    b>Rickets is commonly seen as a sign of malabsorption like celiac disease if it is not treated appropriately with vitamin D and calcium supplements...
  58. pmc Hypophosphatemia leads to rickets by impairing caspase-mediated apoptosis of hypertrophic chondrocytes
    Yves Sabbagh
    Endocrine Unit, Massachusetts General Hospital, Harvard Medical School, Boston, MA 02114, USA
    Proc Natl Acad Sci U S A 102:9637-42. 2005
    b>Rickets is seen in association with vitamin D deficiency and in several genetic disorders associated with abnormal mineral ion homeostasis...
  59. pmc Iron status and fibroblast growth factor-23 in Gambian children
    Vickie Braithwaite
    Medical Research Council MRC Human Nutrition Research, Cambridge, UK
    Bone 50:1351-6. 2012
    ..concentrations of fibroblast growth factor-23 FGF23 are elevated in a large percentage of Gambian children with rickets-like bone deformity. We speculate that low iron status may be involved in the aetiology of Gambian rickets...
  60. ncbi Physiopathology of dental rickets in vitamin D receptor-ablated mice
    V Descroix
    Molecular Oral Physiopathology, INSERM UMRS872 IFR 58, Universities Paris 5, Paris 6, and Paris 7, Cordeliers Research Centre, Escalier E, 15 rue de l Ecole de Medecine, 75270 Paris Cedex 06, France
    J Dent Res 89:1427-32. 2010
    ..These targeted and cumulative effects would generate the diverse and wide spectrum of dental rickets phenotypes.
  61. ncbi [Association of vitamin D receptor gene Apa I polymorphism with vitamin D deficiency rickets]
    Wei ping Xi
    Department of Child Health Care, Shanxi Children s Hospital, Taiyuan 030013, China
    Zhonghua Er Ke Za Zhi 43:514-6. 2005
    To study the association between vitamin D receptor (VDR) gene Apa I polymorphism and vitamin D deficiency rickets in children of Shanxi Han ethnic group, and to explore the significance of individual hereditary factors in the ..
  62. ncbi Prevention of nutritional rickets in Nigerian children with dietary calcium supplementation
    Tom D Thacher
    Department of Family Medicine TDT, Mayo Clinic, 200 First Street, SW, Rochester, MN 55905, USA
    Bone 50:1074-80. 2012
    Nutritional rickets in Nigerian children usually results from dietary calcium insufficiency. Typical dietary calcium intakes in African children are about 200mg daily (approximately 20-28% of US RDAs for age)...
  63. ncbi [Correlation between vitamin D receptor genetic polymorphism and 25-hydroxyvitamin D3 in vitamin D deficiency rickets]
    Yi Gu Gong
    Department of Pediatrics, First Hospital of Lanzhou University, Lanzhou 730000, China
    Zhongguo Dang Dai Er Ke Za Zhi 12:544-6. 2010
    To study the correlation between vitamin D receptor genetic polymorphism Fokand vitamin D deficiency rickets in children between 1 to 3 years old, and to explore the significance of hereditary factors in the development of vitamin D ..
  64. ncbi Bioelectrical impedance analysis of the body composition of Nigerian children with calcium-deficiency rickets
    D J VanderJagt
    Department of Biochemistry and Molecular Biology, University of New Mexico, School of Medicine, Albuquerque 87131, USA
    J Trop Pediatr 47:92-7. 2001
    Children with calcium-deficiency rickets experience increased urinary excretion of both essential and non-essential amino acids compared to non-rachitic children of the same age...
  65. pmc Symptomatic rickets in adolescence
    H Narchi
    Al Hasa Specialty Services Division, Saudi Aramco Al Hasa Health Center, Box 6030, Mubarraz 31311, Saudi Arabia
    Arch Dis Child 84:501-3. 2001
    To describe 21 cases of symptomatic rickets in adolescents.
  66. ncbi Sunlight exposure and development of rickets in Indian toddlers
    V H Ekbote
    Hirabai Cowasji Jehangir Medical Research Institute, Jehangir Hospital, Pune, India
    Indian J Pediatr 77:61-5. 2010
    ..To study the role of sunlight exposure in determining the vitamin D status of underprivileged toddlers...
  67. ncbi Management of nutritional rickets in Indian children: a randomized controlled trial
    Varun Aggarwal
    Department of Pediatrics, Kalawati Saran Children s Hospital and Lady Hardinge Medical College, New Delhi, India
    J Trop Pediatr 59:127-33. 2013
    b>Rickets is usually attributed to vitamin D deficiency. However, recent studies have implicated dietary calcium deficiency in its etiology...
  68. ncbi Infantile osteopetrosis with superimposed rickets
    Korcan Aysun Gonen
    Medical Faculty, Department of Radiology, Uludag University, Gorukle, Bursa, Turkey 16059
    Pediatr Radiol 43:189-95. 2013
    b>Rickets is a complication of infantile osteopetrosis and pre-treatment recognition of this complication is important.
  69. pmc High frequencies of elevated alkaline phosphatase activity and rickets exist in extremely low birth weight infants despite current nutritional support
    Shannon M Mitchell
    Department of Pediatrics, Baylor College of Medicine and Texas Children s Hospital, Houston, Texas, USA
    BMC Pediatr 9:47. 2009
    Osteopenia and rickets are common among extremely low birth weight infants (ELBW, <1000 g birth weight) despite current practices of vitamin and mineral supplementation...
  70. ncbi Report of two unrelated patients with hereditary vitamin D resistant rickets due to the same novel mutation in the vitamin D receptor
    Jamal M Aljubeh
    Division of Endocrinology, Pediatrics Institute, Sheikh Khalifah Medical City, Abu Dhabi, United Arab Emirates
    J Pediatr Endocrinol Metab 24:793-9. 2011
    Two unrelated patients found to have hereditary vitamin D resistant rickets (HVDRR) were admitted to our hospital.
  71. ncbi Hypophosphatemic rickets with hypocalciuria following long-term treatment with aluminum-containing antacid
    J Foldes
    Department of Medicine, Henry Ford Hospital, Detroit, Michigan
    Bone 12:67-71. 1991
    We present what we believe is the first case of rickets following prolonged treatment with aluminum containing antacids that bind phosphate, in an 18-year-old mentally retarded boy with cerebral palsy and spastic quadriplegia...
  72. ncbi Two new unrelated cases of hereditary 1,25-dihydroxyvitamin D-resistant rickets with alopecia resulting from the same novel nonsense mutation in the vitamin D receptor gene
    Nikta Forghani
    Department of Pediatrics, Stanford University School of Medicine, Stanford, CA 94305, USA
    J Pediatr Endocrinol Metab 23:843-50. 2010
    ..Mutations in the VDR cause the rare genetic disease hereditary vitamin D resistant rickets (HVDRR)...
  73. ncbi Vitamin D deficiency and rickets in children and adolescents with ichthyosiform erythroderma in type IV and V skin
    K Chouhan
    Departments of Dermatology, Endocrinology and Metabolism, Paediatrics, Biostatistics and Radiodiagnosis, All India Institute of Medical Sciences, New Delhi, India
    Br J Dermatol 166:608-15. 2012
    Ichthyosiform erythroderma due to keratinizing disorders may suppress cutaneous vitamin D synthesis, leading to vitamin D deficiency and rickets.
  74. ncbi Congenital rickets presenting with hypocalcaemic seizures
    Z Orbak
    West Indian Med J 56:364-7. 2007
    ..University Hospital, eight infants who presented with hypocalcaemic seizures were subsequently found to have rickets. Their mothers had osteomalacia. Neither mothers nor infants received vitamin D supplementation...
  75. ncbi Hypophosphataemic rickets/osteomalacia: a descriptive analysis
    S K Bhadada
    Departments of Endocrinology and Histopathology, Postgraduate Institute of Medical Education and Research, Chandigarh, India
    Indian J Med Res 131:399-404. 2010
    Hypophosphataemic rickets/osteomalacia (HRO) is an uncommon metabolic bone disorder which affects all ages and either sex...
  76. pmc Serum alkaline phosphatase levels in healthy children and evaluation of alkaline phosphatase z-scores in different types of rickets
    Serap Turan
    Marmara University, Department of Pediatric Endocrinology, Istanbul, Turkey
    J Clin Res Pediatr Endocrinol 3:7-11. 2011
    ..study pediatric age- and sex-specific reference ranges for ALP by colorimetric assay using p-nitrophenyl phosphate as substrate and diethanolamine as buffer and also to compare the ALP levels in patients with different types of rickets.
  77. ncbi Ichthyosiform erythroderma with rickets: report of five cases
    G Sethuraman
    Department of Dermatology and Venereology, All India Institute of Medical Sciences, New Delhi 110029, India
    Br J Dermatol 158:603-6. 2008
    We describe five children with ichthyosis and rickets. The association of ichthyosis and rickets is very rare. Four children had lamellar ichthyosis and one child had nonbullous ichthyosiform erythroderma/psoriasis with atopy...
  78. ncbi The presentation of rickets to orthopaedic clinics: return of the English disease
    Haris Naseem
    Department of Orthopaedics, East Lancashire Hospitals NHS Trust, Royal Blackburn Hospital, Blackburn, U K
    Acta Orthop Belg 77:239-45. 2011
    b>Rickets is a potentially treatable disease of the bone that is most commonly due to deficiency of vitamin D and is increasing in incidence in developed countries...
  79. ncbi Rickets and vitamin D deficiency in children and adolescents
    John M Pettifor
    Department of Paediatrics, Chris Hani Baragwanath Hospital, Soweto 2013, South Africa
    Endocrinol Metab Clin North Am 34:537-53, vii. 2005
    This article discusses the pathogenesis, epidemiology, prevention, and treatment of nutritional rickets in children, highlighting the roles of exclusive breastfeeding and low dietary calcium intakes in its pathogenesis...
  80. ncbi Vitamin D receptor polymorphisms and nutritional rickets in Nigerian children
    P R Fischer
    Department of Pediatric and Adolescent Medicine, Mayo Clinic, Rochester, Minnesota 55905, USA
    J Bone Miner Res 15:2206-10. 2000
    Nutritional rickets is common in Nigeria where vitamin D deficiency is rare and dietary insufficiency of calcium is common. It occurs more commonly in siblings of affected children than of unaffected children...
  81. pmc A novel CYP27B1 mutation causes a feline vitamin D-dependent rickets type IA
    Robert A Grahn
    Department of Population Health and Reproduction, School of Veterinary Medicine, University of California Davis, Davis, CA 95616, USA
    J Feline Med Surg 14:587-90. 2012
    ..domestic cat presented at a local veterinary clinic with hypocalcemia and skeletal abnormalities suggestive of rickets. Osteomalacia (rickets) is a disease caused by impaired bone mineralization leading to an increased prevalence of ..
  82. pmc Incidental radiological diagnosis of rickets
    L M Rennie
    Department of Accident and Emergency Medicine, Royal Hospital for Sick Children, Edinburgh, Scotland
    Emerg Med J 22:534-7. 2005
    b>Rickets fortunately remains rare in the United Kingdom, although its actual incidence is currently undetermined.1 Many still consider it to be a disease of poverty prevalent during the Victorian era...
  83. ncbi A systematic review of nutritional rickets in Ethiopia: status and prospects
    Yimenu Wondale
    Department of Pediatrics and Child Health, Tikur Anbessa Specialized Hospital, Faculty of Medicine, Addis Ababa University, Ethiopia
    Ethiop Med J 43:203-10. 2005
    Nutritional rickets contributes to the high burden of illness and death among Ethiopian children below 5 years of age. Lack of adequate information appears to have negatively influenced the impact of prevention and treatment programs.
  84. ncbi Variable presentations of rickets in children in the emergency department
    Erete Bloom
    Department of Pediatrics, University of Washington and Children s Hospital and Regional Medical Center, Seattle, WA 98105, USA
    Pediatr Emerg Care 20:126-30. 2004
    Vitamin D-deficient rickets is uncommon but becoming more prevalent in the pediatric population likely related to increases in breast-feeding. It should be considered in many clinical situations...
  85. ncbi Nutritional rickets and vitamin D deficiency--association with the outcomes of childhood very severe pneumonia: a prospective cohort study
    Salem M Banajeh
    Sana a University, Sana a, Yemen
    Pediatr Pulmonol 44:1207-15. 2009
    The association of rickets and vitamin D deficiency (VDD) with pneumonia is well documented, but not with its outcomes.
  86. pmc Maternal vitamin D deficiency, refractory neonatal hypocalcaemia, and nutritional rickets
    S D Shenoy
    Arch Dis Child 90:437-8. 2005
  87. ncbi Meat consumption reduces the risk of nutritional rickets and osteomalacia
    Matthew G Dunnigan
    University Department of Human Nutrition, Royal Infirmary, Glasgow, UK
    Br J Nutr 94:983-91. 2005
    ..low serum 25(OH)D3) is a necessary but insufficient requirement for the genesis of vitamin D-deficiency rickets and osteomalacia...
  88. ncbi The utility of alkaline phosphatase measurement as a screening test for rickets in breast-fed infants and toddlers: a study from the puget sound pediatric research network
    James A Taylor
    University of Washington School of Medicine and Seattle Children s Hospital, Seattle, WA 98195, USA
    Clin Pediatr (Phila) 49:1103-10. 2010
    To determine if alkaline phosphatase (AP) levels are a useful screening test for rickets, the authors measured serum AP levels in children 6 to 15 months old who were predominantly breast-fed for > 6 months without vitamin D ..
  89. ncbi Epidermolytic hyperkeratosis with rickets
    Surajit Nayak
    Department of Dermatology, M K C G Medical College, Berhampur, Orissa, India
    Indian J Dermatol Venereol Leprol 72:139-42. 2006
    ..histopathologic and biochemical findings, he was diagnosed as a case of epidermolytic hyperkeratosis with rickets. He was treated with parenteral vitamin D3 and calcium supplements orally...
  90. ncbi Symptomatic nutritional rickets in a teenager with autistic spectrum disorder
    C Stewart
    Children s Centre, Royal Glamorgan Hospital, Ynysmaerdy, Llantrisant, South Wales, UK
    Child Care Health Dev 34:276-8. 2008
    ..This may result in an inadequate nutritional status. Integration of sensory signals in the brain associated with textures, tastes and smells has been postulated as a possible cause...
  91. pmc Genetic diagnosis of X-linked dominant Hypophosphatemic Rickets in a cohort study: tubular reabsorption of phosphate and 1,25(OH)2D serum levels are associated with PHEX mutation type
    Marcos Morey
    Fundacion Publica Galega de Medicina Xenomica, Santiago de Compostela, Spain
    BMC Med Genet 12:116. 2011
    Genetic Hypophosphatemic Rickets (HR) is a group of diseases characterized by renal phosphate wasting with inappropriately low or normal 1,25-dihydroxyvitamin D3 (1,25(OH)2D) serum levels...
  92. pmc Relationship between rickets and incomplete distal renal tubular acidosis in children
    Abiola O Oduwole
    Department of Paediatrics, Lagos University Teaching Hospital, Idi Araba, Lagos, Nigeria
    Ital J Pediatr 36:54. 2010
    In the Sub Saharan Africa Rickets has now been established to be due primarily to calcium deficiency and sometimes in combination with vitamin D deficiency...
  93. pmc Vitamin D deficiency rickets mimicking pseudohypoparathyroidism
    Leyla Akin
    Department of Pediatrics, Erciyes University Faculty of Medicine, Kayseri, Turkey
    J Clin Res Pediatr Endocrinol 2:173-5. 2010
    Vitamin D deficiency rickets (VDDR) is a disorder biochemically characterized by elevated serum alkaline phosphatase (ALP) activity, normal or decreased serum calcium (Ca) and inorganic phosphate concentrations, secondary ..
  94. ncbi Adolescent rickets in Saudi Arabia: a rich and sunny country
    Mohamed A Abdullah
    Division of Pediatric Endocrinology, Security Forces Hospital, Riyadh, Saudi Arabia
    J Pediatr Endocrinol Metab 15:1017-25. 2002
    ..which is a rich and sunny country, we report our experience with 34 adolescents (20 females, 10 males) with rickets. The commonest cause was vitamin D deficiency (58.8%) followed by rickets due to low calcium intake (11...
  95. ncbi Harriette Chick and the problem of rickets
    Kenneth J Carpenter
    Department of Nutritional Sciences, University of California, Berkeley, CA 94720 3104, USA
    J Nutr 138:827-32. 2008
  96. ncbi Refractory rickets in the tropics
    M Sahay
    Department of Nephrology, Osmania General Hospital, Hyderabad, India
    J Pediatr Endocrinol Metab 23:597-601. 2010
    b>Rickets is an important problem in children. The majority of rickets in children is due to deficiency of calcium, phosphorus or vitamin D. However, rickets may also be a feature of renal diseases, e.g...
  97. ncbi The chemistry of light: the life and work of Theobald Adrian Palm (1848-1928)
    Jadesola Ekpe
    Imperial College School of Medicine, London, UK
    J Med Biogr 17:155-60. 2009
    ..During this time he noted the absence of rickets (a disease rife in Britain) in Japanese children and instituted a survey from which he deduced that sunlight ..
  98. ncbi Fractures in infants and toddlers with rickets
    Teresa Chapman
    Department of Radiology, Seattle Children s Hospital, MS R 5417, 4800 Sand Point Way NE, Seattle, WA 98105, USA
    Pediatr Radiol 40:1184-9. 2010
    b>Rickets affects young infants and toddlers. However, there is a paucity of literature regarding the types of fractures that occur in rachitic patients.
  99. ncbi Rickets: emerging from obscurity
    CAROL WAGNER
    Am Fam Physician 74:561-2. 2006
  100. ncbi Food allergy as a risk factor for nutritional rickets
    A T Fox
    Department of Paediatric Allergy, St Mary s Hospital, London, UK
    Pediatr Allergy Immunol 15:566-9. 2004
    The case of a 14-month-old boy with vitamin D deficiency rickets as a result of unsupervised dietary manipulation in the context of cow's milk allergy is presented...
  101. ncbi An outbreak of rickets in Corriedale sheep: evidence for a genetic aetiology
    K G Thompson
    Institute of Veterinary, Animal and Biomedical Sciences, Massey University, Palmerston North, New Zealand
    N Z Vet J 55:137-42. 2007
    ..A genetic aetiology was considered likely following exclusion of other known causes of rickets and because of the progressive nature of the disease, even after affected animals were transferred to another ..

Research Grants66

  1. Phosphorylation of FGF23 coordinates crosstalk between the skeleton and kidney
    VINCENT SCOTT TAGLIABRACCI; Fiscal Year: 2013
    ..Fam20C null mice develop hypophosphatemic rickets (HR) as a result of elevated secretion of FGF23, a bone- derived hormone implicated in the pathogenesis of many ..
  2. Vitamin D and Estrogen Action in Bone: Concerted Role for hnRNPs in the C Family
    John S Adams; Fiscal Year: 2013
    ..Twenty five years ago we began to investigate an outbreak of rickets in adolescent, female New World primates residing at the Los Angeles Zoo, identifying proteins in the ..
  3. Bioassay for Breast Cancer Prevention
    JoEllen Welsh; Fiscal Year: 2010
    ..Dietary requirements for vitamin D were originally set for prevention of the bone disease rickets. At the time, a role for vitamin D in cancer prevention was not recognized...
  4. Classical and non-classical responses to vitamin D in children: the role of DBP g
    Thomas O Carpenter; Fiscal Year: 2010
    DESCRIPTION (provided by applicant): We described rickets in children in our inner city area (over 80% minorities) with either low or normal circulating 25-hydroxyvitamin D (25-OHD) levels, and have found that vitamin D deficiency (..
  5. Vitamin D and fibroblast growth factor 23 physiology in adolescent girls
    DEBORAH MICHELLE MITCHELL; Fiscal Year: 2012
    ..are characterized by FGF23 excess, including X-linked hypophosphatemia, autosomal dominant hypophosphatemic rickets, and tumor-induced osteomalacia...
  6. Comparison of Bisphosphonate Treatment Regimens on Skeletal Growth &Biomechanics
    Marie Demay; Fiscal Year: 2013
    ..impairs apoptosis of hypertrophic chondrocytes, both in vivo and in vitro, leading to the development of rickets in growing animals...
  7. Conditional Isolation of Fgf23 Activity
    Kenneth E White; Fiscal Year: 2011
    ..missense mutations in Fibroblast growth factor-23 (FGF23) as the cause of autosomal dominant hypophosphatemic rickets (ADHR), characterized by hypophosphatemia secondary to isolated renal phosphate wasting and metabolic bone ..
  8. The Effects of Iron Status on FGF23 Metabolism and Bone Health.
    Michael J Econs; Fiscal Year: 2012
    ..iron concentrations are associated with high levels of FGF23 in patients with autosomal dominant hypophosphatemic rickets (ADHR). Furthermore, the increase in FGF23 concentrations is correlated with disease activity in ADHR...
  9. Molecular regulation of renal 125(OH)2D production by Fibroblast Growth Factor23
    Farzana Perwad; Fiscal Year: 2010
    ..Disorders of vitamin D metabolism causes rickets in children and osteomalacia in adults due to abnormal bone mineralization...
  10. Mineralization of the matrix in disease and health
    PETER S ROWE; Fiscal Year: 2013
    ..Loss of PHEX function results in X-linked hypophosphatemic rickets and a novel cytokine FGF23 (a phosphatonin), plays a major role in the phosphate phenotype...
  11. Identification and Function of nuDMP1 in Odontoblast Differentiation
    Yongbo Lu; Fiscal Year: 2013
    ..of dentin matrix protein 1 (DMP1) function in humans and mice results in autosomal recessive hypophosphatemic rickets (ARHR), characterized by hypomineralization in dentin and bone, hypophosphatemia and the elevation of circulating ..
  12. Fibroblast Growth Factor 23 (FGF23) and It's Receptors
    Jyothsna Gattineni; Fiscal Year: 2013
    ..result in disturbances in phosphate homeostasis with hypophosphatemia and low 1,25 Vitamin D levels resulting in rickets, bone fractures and poor growth...
  13. Molecular Pathogenesis and Treatment of Hypophosphatasia
    Jose Luis Millan; Fiscal Year: 2013
    DESCRIPTION (provided by applicant): Hypophosphatasia (HPP) is the inborn-error-of-metabolism that features rickets or osteomalacia due to loss-of-function mutation within the tissue-nonspecific alkaline phosphatase (TNAP) gene...
  14. Innovative mouse model to study parathyroids and an application to human disease
    Beate Lanske; Fiscal Year: 2010
    ..calcification, fragile bones, chronic renal failure, myopathy, cardiac dysfunction, hematological abnormalities, rickets and osteomalacia, a new approach is needed to address this question...
  15. Calcium-Sensing Receptors and Growth Plate Development
    Wenhan Chang; Fiscal Year: 2012
    ..Delayed cell differentiation in the growth plate can produce chondrodysplasia, hypophosphatasia, rickets, and growth retardation...
  16. Characterizing interactions of the VDR and the canonical Wnt signatling pathway
    Hilary F Luderer; Fiscal Year: 2010
    ..Humans with mutations in the VDR develop Hereditary Vitamin D Resistant Rickets. In addition to Rickets, multiple inherited VDR mutations result in alopecia totalis...
  17. A Systems Genetics Approach to Fracture Healing
    LOUIS CHARLES GERSTENFELD; Fiscal Year: 2013
    ..modeled using parathyroid hormone (PTH) treatment, which enhances healing, and phosphate deficiency, which mimics rickets and inhibits healing...
  18. Calcitonin for treating X-linked hypophosphatemia
    KARL LEONARD INSOGNA; Fiscal Year: 2012
    ..These combined biochemical abnormalities result in defective skeletal mineralization manifested as rickets in children and osteomalacia in adults...
  19. CLINICAL AND GENETIC ANALYSIS OF ADHR
    Michael J Econs; Fiscal Year: 2013
    ..growth factor 23 (FGF23) and demonstrating that the mutations causing autosomal dominant hypophosphatemic rickets (ADHR) protect FGF23 protein from degradation, we focused our studies during the current cycle on defining the ..
  20. Control of FGF23 Bioactivity via Circulating alpha-Klotho
    Kenneth E White; Fiscal Year: 2013
    ..factor-23 (FGF23) in a positional cloning approach to isolate the gene for autosomal dominant hypophosphatemic rickets (ADHR), characterized by hypophosphatemia secondary to renal phosphate wasting, rickets/osteomalacia and fracture...
  21. Pathophysiologic Regulation of Fgf-23 in Phosphate Homeostasis: Role of Vitamin D
    Beate Lanske; Fiscal Year: 2012
    ..Changes in serum FGF23 levels in humans result in rickets, osteomalacia, or tumoral calcinosis...
  22. Dietary and hormonal regulation of FGF-23 in humans
    Sherri Ann M Burnett Bowie; Fiscal Year: 2010
    ..Abnormal PO4 handling occurs in forms of hypophosphatemic rickets, and in chronic renal failure with resultant parathyroid hyperplasia and osteodystrophy...
  23. BONE CELL REGULATION OF THE VITAMIN D RECEPTOR GENE
    J Wesley Pike; Fiscal Year: 2013
    ..Several mouse models of hereditary 1,25(OH)2D3 resistant rickets will be created and evaluated...
  24. FGF2 Isoforms in Bone and Phosphate Homeostasis
    MARJA MARIE HURLEY; Fiscal Year: 2013
    ..expression of nuclear HMWFGF2 in osteoblasts/osteocytes in Hyp mice, a murine model of X-linked hypophosphatemic rickets (XLH)...
  25. FGF-23 REGULATION OF PHOSPHATE HOMEOSTASIS
    Kenneth E White; Fiscal Year: 2013
    ..factor-23 (FGF23) in a positional cloning approach to isolate the gene for autosomal dominant hypophosphatemic rickets (ADHR), characterized by renal phosphate wasting, rickets/osteomalacia, and fracture...
  26. FGF23 in Pediatric Phosphate Physiology and X-linked Hypophosphatemic Rickets.
    ERIK ALLEN IMEL; Fiscal Year: 2013
    ..regulator of phosphate and vitamin D metabolism, and FGF23 dysregulation is central to X-linked hypophosphatemic rickets (XLH). Serum phosphate concentrations are higher in children than in adults, which may be FGF23 mediated...
  27. DMP1 Mutations: Defects in Odontogenesis
    Jian Q Feng; Fiscal Year: 2012
    ..Realizing that autosomal recessive hypophosphatemic rickets (ARHR) patients manifest phenotypic changes very similar to those observed in Dmp1-KO mice, we recently ..
  28. VITAMIN D RECEPTOR AND REGULATION OF HORMONE RESPONSE
    David Feldman; Fiscal Year: 2010
    ..therapy as an anti-proliferative and pro-differentiating hormone for use in the treatment of osteoporosis, rickets, cancer, etc. The grant has two Specific Aims, both related to calcitriol action and mechanisms of VDR resistance...
  29. TNSALP Mutations in Atypical Femoral Fractures with Long-Term Bisphosphonate Use
    STEVEN R MUMM; Fiscal Year: 2013
    ..HPP manifests clinically due to impaired mineralization of skeletal matrix (causing rickets or osteomalacia) because the excess levels of pyrophosphate, the substrate for TNSALP, inhibits the ..
  30. NIAMS: CORT
    Thomas O Carpenter; Fiscal Year: 2010
    ..of Research Translation (CORT) is dedicated to improving the care of patients with X linked hypophosphatemic rickets (XLH). XLH is the most common form of inherited rickets in the US and is an ideal focus for this CORT...
  31. Establishing the Vitamin D Requirements During Lactation
    Bruce W Hollis; Fiscal Year: 2010
    ..Nationally, there has been a steady and significant rise in nutritional rickets in breastfed (BF) infants, mainly in the African American population...
  32. Etiology and Therapy of Rickets in the Hyp mouse model of XLH
    Marie Demay; Fiscal Year: 2013
    ..impairs apoptosis of hypertrophic chondrocytes in vivo and in vitro, leading to the development of rickets in growing animals...
  33. Role of renal sodium-phosphate co-transporter NaPI-Iic in phosphate homeostasis
    Clemens Bergwitz; Fiscal Year: 2011
    ..indicated that several homozygous individuals revealed only hypercalciuria, while bone changes consistent with rickets were absent at the time of investigation...
  34. Activators of the Pyrophosphatase Activity of Alkaline Phosphatase
    Jose Luis Millan; Fiscal Year: 2007
    unreadable] DESCRIPTION (provided by applicant): We have recently reported that the rickets and osteomalacia characteristic in tissue-nonspecific alkaline phosphatase (TNAP)-deficient mice (Akp2-/- mice) results from highly increased ..
  35. MOLECULAR PATHOGENESIS OF HYPOPHOSPHATEMIC RICKETS
    Suzanne M Jan De Beur; Fiscal Year: 2011
    ..FGF-23 plays a central role in the pathophysiology of several forms of hypophosphatemic rickets including tumor-induced osteomalacia (TIO), X-linked hypophosphatemic rickets (XLH) and autsomal dominant ..
  36. Dietary Factors Affecting Calcium and Zinc Absorption
    Steven Abrams; Fiscal Year: 2006
    ..antecedents of mineral deficiency in a unique population of children with severe calcium deficiency-related rickets in Nigeria. We propose to develop a novel collaboration for conducting comprehensive mineral research...
  37. Prevention of Vitamin D Deficiency in Breastfed Infants
    Ekhard Ziegler; Fiscal Year: 2009
    ..The prevalence of vitamin D deficiency, including its severest form, rickets, is on the rise, probably because of the increase in breastfeeding...
  38. X-LINKED HYPOPHOSPHATEMIA: IGF-1 INHIBITORS
    Ralph Meyer; Fiscal Year: 1990
    X-linked hypophosphatemia (vitamin D-resistant rickets) is caused by mutant dominant genes on the X chromosome of humans (HYP; HPDR) and mice (Hyp)...
  39. MECHANISMS OF BONE GROWTH IN FISH HYPEROSTOSIS
    Leslie Kaufman; Fiscal Year: 1992
    ..skeletal and mineral metabolism are involved in many abnormalities of growth and development, in osteopetrosis, rickets, osteoporosis, and inflammatory disorders such as arthritis and periodontal disease...
  40. Vitamin D Hormone Signaling in Bone Mineral Homeostasis
    Mark R Haussler; Fiscal Year: 2010
    ..D hormone, 1,25-dihydroxyvitamin D3 (1,25(OH)2D3), in regulating bone mineral ions to prevent diseases such as rickets/osteomalacia and osteoporosis...
  41. ROLE OF PHOSPHOLIPIDS IN MINERALIZATION OF OSTEOID
    David Howell; Fiscal Year: 1992
    ..Relative mRNA levels for each growth factor will be determined by Northern analysis. Reversal of rickets (induction of capillary invasion) by vitamin D, its metabolites, and PTH will be used to study growth factor ..
  42. Pathophysiologic Regulation of Fgf-23 in Phosphate Homeostasis: Role of Vitamin D
    Beate Lanske; Fiscal Year: 2010
    ..including in X-linked hypophosphatemia (XLH), oncogenic osteomalacia (OOM), autosomal dominant hypophosphatemic rickets (ADHR), familial tumor calcinosis (FTC) and chronic renal diseases...
  43. RECEPTOR MUTANTS IN VITAMIN D RESISTANT RICKETS OF BONE
    Mark Hughes; Fiscal Year: 1991
    ..information to analyze defective receptor proteins in families with the genetic disease, vitamin D- resistant rickets - type II...
  44. NOVEL FUNCTIONS OF THE VITAMIN D RECEPTOR AND DISEASE
    MARK HAUSSLER; Fiscal Year: 2007
    ..the retinoid X receptor (RXR) in order to mediate the actions of the vitamin D hormone (1,25(OH)2D3) to prevent rickets and osteopenia by effecting normal calcium and phosphate homeostasis...
  45. IDENTIFICATION OF NOVEL PHOSPHATE REGULATORS
    HARALD JUEPPNER; Fiscal Year: 2007
    ..XLH), 2) FGF23, for which gain-of-function mutations were found in autosomal dominant hypophosphatemic rickets (ADHR) and loss-of-function mutations in a form of familial tumoral calcinosis (FTC-2), and 3) GALNT3, an enzyme ..
  46. PHOSPHOLIPIDS AND MINERALIZATION OF OSTEOID
    David Howell; Fiscal Year: 1999
    ..Relative mRNA levels for each growth factor will be determined by Northern analysis. Reversal of rickets (induction of capillary invasion) by vitamin D, its metabolites, and PTH will be used to study growth factor ..
  47. Role of FGF-23 in Regulation of Phosphate Homeostasis
    Suzanne Jan de Beur; Fiscal Year: 2004
    Oncogenic osteomalacia (OOM), X linked hypophosphatemic rickets (XLH) and autosomal dominant hypophosphatemic rickets (ADHR) are phenotypically similar disorders characterized by hypophosphatemia, decreased renal phosphate reabsorption, ..
  48. Mineralization and the Role of Matrixphosphoglycoprotein
    Peter Rowe; Fiscal Year: 2005
    X-linked hypophosphatemic rickets (HYP) is associated with severe defects in renal phosphate handling, vitamin D metabolism and mineralization...
  49. PATHOGENESIS OF OSTEOPETRO-RICKETS
    Mark Seifert; Fiscal Year: 1990
    ..It is resistant-to-cure by bone marrow transplantation and also has skeletal features characteristic of rickets. Rickets has been frequently associated with osteopetrosis in man, but like the disorder in the tl rat, it is ..
  50. Osteoblast Derived Pathogenic Factors in Hyp Mice
    Norimoto Yanagawa; Fiscal Year: 2005
    X-linked hypophosphatemia (XLH), the most common inherited form of rickets in North America, is an X-linked dominant Mendelian disorder characterized by hypophosphatemia from renal Pi wasting, abnormal vitamin D metabolism, and impaired ..
  51. PHOSPHOTONIN--A NOVEL PHOSPHATE REGULATORY HORMONE
    Suzanne Jan de Beur; Fiscal Year: 2003
    ..X-linked hypophosphatemic rickets (XLH) is a genetic syndrome with clinical manifestations similar to OOM...
  52. A Critical Role of DMP-1 in Mineralization
    Jian Feng; Fiscal Year: 2007
    ..shown that mice lacking the bone ECM protein, Dentin matrix protein-1 (DMP-1) exhibit a dramatic osteomalacia/rickets phenotype with impaired mineralization...
  53. VITAMIN D P450 FUNCTION--NATURAL & DIRECTED MUTAGENESIS
    John Omdahl; Fiscal Year: 2002
    ..1-13.3, the same site that was previously identified for pseudovitamin D-deficient rickets (PDDR)...
  54. Microcomputed tomography device (Scanco microCT35)
    Karl Insogna; Fiscal Year: 2007
    ..In 2005, Yale was awarded a P50 Center Research Translation, the Yale Center for X-Linked Hypophosphatemic Rickets Research (YC- XLH)...
  55. CLONING AND CHARACTERIZATION OF HUMAN CYP25
    Norman Bell; Fiscal Year: 2005
    ..Patients with isolated 25(OH)D deficiency and rickets who respond to pharmacologic doses of vitamin D and physiologic doses of 25(OH)D3, 1alpha(OH)D3, or related drugs ..
  56. REGULATION OF BONE SIALOPROTEIN (BSP) EXPRESSION IN VIVO
    Jake Jinkun Chen; Fiscal Year: 1999
    ..on the expression of the rat BSP transgene; 3) examine the alterations in BSP expression in vitamin D-deficient rickets and to relate these changes to defects in bone formation, mineralization and remodeling...
  57. STRUCTURE/FUNCTION STUDIES OF THE VITAMIN D RECEPTOR
    G Whitfield; Fiscal Year: 1993
    ..The availability of fibroblasts from a patient with vitamin-D dependent rickets type II will be exploited as a means of analyzing an in vivo VDR- deficient mutant...
  58. MOLECULAR PROBING OF VITAMIN D RECEPTOR
    Rahul Ray; Fiscal Year: 1999
    ..domain structure will be important to properly understand the pathophysiology of human vitamin D deficient rickets type II syndromes which involve natural mutations at hormone- and DNA-binding regions of hVDR...
  59. ISOLATION OF A PHOSPHATE REGULATOR FROM MOUSE BONE CELLS
    Thomas Carpenter; Fiscal Year: 1999
    ..pathophysiologic link between the mutation of the X chromosome and the phenotypic abnormalities in the inherited rickets. The investigators hypothesize that a Pi transport inhibitor, recently isolated from osteoblast conditioned media,..
  60. Physiological regulation of FGF-23 by dietary phosphate
    SHERRI ANN BURNETT; Fiscal Year: 2004
    X-linked hypophosphatemic rickets, autosomal dominant hypophosphatemic rickets, and oncogenic ostcomalacia, are characterized by phosphaturia that cannot be explained on the basis of known regulators of phosphate homeostasis...
  61. THE PHOTOBIOLOGY OF VITAMIN D
    Michael Holick; Fiscal Year: 2005
    ..Results from this study should provide important new insights into the photoproduction of toxisterols and suprasterols in human skin and provide new information about their potential biologic functions in the skin. ..
  62. PTH (7-34) for Chemotherapy alopecia in Breast Cancer
    Michael Holick; Fiscal Year: 2006
    ..unreadable] [unreadable]..
  63. TWO X-LINKED GENES THAT REGULATE MINERAL HOMEOSTASIS
    Michael Whyte; Fiscal Year: 2002
    ....
  64. Proximal Tubule Transport Defect in Hyp Mice
    Michel Baum; Fiscal Year: 2007
    ..Current therapy includes administration of oral phosphate and 1,25(OH)2 vitamin D which results in improvement of rickets but can result in hyperparathyroidism, hypercalcemia, hypercalciuria and nephrocalcinosis...
  65. PEDIATRIC NEPHROLOGY TRAINING
    Michel Baum; Fiscal Year: 2005
    ..Fellows also attend seminars in basic science departments. The research mentor, as well as the program director, closely supervise trainees to ensure that the goals of the training program are achieved. ..
  66. Tools for mapping transcriptional networks
    Uri Alon; Fiscal Year: 2006
    ..We expect that the analysis tools and concepts developed in E. coli will be very useful in mapping complex regulatory circuits in other cell types. [unreadable] [unreadable]..