Genomes and Genes
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)
Publications303 found, 100 shown here
- Resurrection of vitamin D deficiency and ricketsMichael 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. 2006The 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...
- FGF23 is elevated in Gambian children with ricketsAnn 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 ..
- Targeted ablation of the vitamin D receptor: an animal model of vitamin D-dependent rickets type II with alopeciaY 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...
- A novel nonsense mutation in the DMP1 gene identified by a genome-wide association study is responsible for inherited rickets in Corriedale sheepXia Zhao
Department of Animal Science and Center for Integrated Animal Genomics, Iowa State University, Ames, Iowa, United States of America
PLoS ONE 6:e21739. 2011Inherited 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...
- Loss of DMP1 causes rickets and osteomalacia and identifies a role for osteocytes in mineral metabolismJian 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 ..
- Vitamin D across the lifecycle: physiology and biomarkersAnn 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)...
- Comparison of metabolism of vitamins D2 and D3 in children with nutritional ricketsTom D Thacher
Department of Family Medicine, Mayo Clinic, Rochester, MN 55905, USA
J Bone Miner Res 25:1988-95. 2010Children with calcium-deficiency rickets may have increased vitamin D requirements and respond differently to vitamin D(2) and vitamin D(3)...
- FGF-23 transgenic mice demonstrate hypophosphatemic rickets with reduced expression of sodium phosphate cotransporter type IIaTakashi 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...
- Incidence of vitamin D deficiency rickets among Australian children: an Australian Paediatric Surveillance Unit studyCraig F Munns
Institute of Endocrinology and Diabetes, Children s Hospital at Westmead, Sydney, NSW
Med J Aust 196:466-8. 2012To determine the incidence of and factors associated with vitamin D deficiency rickets in Australian children.
- Vitamin D &/or calcium deficiency rickets in infants & children: a global perspectiveJohn 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...
- Prevalence of vitamin D deficiency rickets in adolescent school girls in Western region, Saudi ArabiaAisha M Siddiqui
Department of Medicine, King Abdulaziz University Hospital, PO Box 80215, Jeddah 21589, Kingdom of Saudi Arabia
Saudi Med J 28:441-4. 2007To determine the prevalence of vitamin D deficiency rickets among female adolescents and assess its relation to calcium intake and sun exposure.
- 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. 2009b>Rickets is a disease of the hypertrophic chondrocytes in the growth plate and is caused by hypophosphatemia-a derived defect in terminal chondrocyte apoptosis...
- Vitamin D-deficiency rickets among children in CanadaLeanne M Ward
Department of Pediatrics, Children s Hospital of Eastern Ontario, University of Ottawa, Ottawa, Ont
CMAJ 177:161-6. 2007Based on regional and anecdotal reports, there is concern that vitamin D-deficiency rickets is persistent in Canada despite guidelines for its prevention...
- The autosomal dominant hypophosphatemic rickets R176Q mutation in fibroblast growth factor 23 resists proteolytic cleavage and enhances in vivo biological potencyXiu 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. 2003Missense mutations in fibroblast growth factor 23 (FGF23) are the cause of autosomal dominant hypophosphatemic rickets (ADHR)...
- 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. 2004Nutritional 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 ..
- Prevention of rickets and vitamin D deficiency in infants, children, and adolescentsCarol L Wagner
American College of Obstetrics and Gynecology
Pediatrics 122:1142-52. 2008b>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...
- Targeted inactivation of the 25-hydroxyvitamin D(3)-1(alpha)-hydroxylase gene (CYP27B1) creates an animal model of pseudovitamin D-deficiency ricketsO Dardenne
Genetics Unit, Shriners Hospital for Children, Montreal, Quebec, Canada H3G 1A6
Endocrinology 142:3135-41. 2001Pseudovitamin 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...
- The effect of vitamin D2 and vitamin D3 on intestinal calcium absorption in Nigerian children with ricketsTom D Thacher
Department of Family Medicine, Mayo Clinic, 200 First Street SW, Rochester, Minnesota 55905, USA
J Clin Endocrinol Metab 94:3314-21. 2009Children with calcium-deficiency rickets have high 1,25-dihydroxyvitamin D values.
- Normalization of mineral ion homeostasis by dietary means prevents hyperparathyroidism, rickets, and osteomalacia, but not alopecia in vitamin D receptor-ablated miceY 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...
- Follow-up study of Gambian children with rickets-like bone deformities and elevated plasma FGF23: possible aetiological factorsVickie Braithwaite
MRC Human Nutrition Research, Elsie Widdowson Laboratory, Cambridge, UK
Bone 50:218-25. 2012We 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...
- Iron modifies plasma FGF23 differently in autosomal dominant hypophosphatemic rickets and healthy humansErik 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. 2011In autosomal dominant hypophosphatemic rickets (ADHR), fibroblast growth factor 23 (FGF23) resists cleavage, causing increased plasma FGF23 levels...
- Diagnosis of rickets and reassessment of prevalence among rural children in northern ChinaMark A Strand
Medical Programs Department, Shanxi Evergreen Service, Taiyuan, Shanxi, China
Pediatr Int 49:202-9. 2007Rates of rickets from 15.9 to 26.7% have been reported in China.
- RicketsM 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. 2011b>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...
- Vitamin D deficiency--it's more than ricketsFrank R Greer
J Pediatr 143:422-3. 2003
- Rickets: vitamin D and calcium deficiencyTom D Thacher
J Bone Miner Res 22:638; author reply 639. 2007
- Early and severe presentation of vitamin D deficiency and nutritional rickets among hospitalized infants and the effective factorsHasan Tezer
Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey
Turk J Pediatr 51:110-5. 2009Nutritional 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...
- Rickets in exclusively breast fed babiesMeenakshi 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...
- Hypocalcemic rickets: an unusual cause of dilated cardiomyopathyD 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. 2003We 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.
- No enzyme activity of 25-hydroxyvitamin D3 1alpha-hydroxylase gene product in pseudovitamin D deficiency rickets, including that with mild clinical manifestationS Kitanaka
Institute of Molecular and Cellular Biosciences, The University of Tokyo, Japan
J Clin Endocrinol Metab 84:4111-7. 1999Pseudovitamin D deficiency rickets (PDDR) is an autosomal recessive disorder caused by defect in the activation of vitamin D...
- Nutritional ricketsBehzat Ozkan
Ataturk University, Faculty of Medicine, Department of Pediatric Endocrinology, Erzurum, Turkey
J Clin Res Pediatr Endocrinol 2:137-43. 2010Nutritional 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...
- 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...
- Vitamin D deficiency in children and its management: review of current knowledge and recommendationsMadhusmita Misra
Pediatric Endocrine and Neuroendocrine Units, Massachusetts General Hospital, Boston, Massachusetts 02114, USA
Pediatrics 122:398-417. 2008....
- The role of vitamin D in paediatric bone healthJohn 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 ..
- Vitamin D, cod-liver oil, sunlight, and rickets: a historical perspectiveKumaravel Rajakumar
Department of Pediatrics, Children s Hospital of Pittsburgh, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania 15213 2583, USA
Pediatrics 112:e132-5. 2003b>Rickets, a disease of vitamin D deficiency, is rarely confronted by the practicing pediatrician in the United States today...
- The frequency of nutritional rickets among hospitalized infants and its relation to respiratory diseasesAbdelhamid S Najada
Department of Pediatrics, Queen Alia Hospital, Amman, Jordan
J Trop Pediatr 50:364-8. 2004This case control study was conducted to determine the frequency of nutritional rickets among hospitalized infants and to assess their relation to respiratory diseases...
- Non-azotemic refractory rickets in Indian childrenAnurag Bajpai
Division of Pediatric Nephrology, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi 110 02, India
Indian Pediatr 42:23-30. 2005In 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...
- 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 deficiencyAshraf 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 ..
- Maternal vitamin D status: implications for the development of infantile nutritional ricketsKebashni 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 ..
- Rickets in cation-sensing receptor-deficient mice: an unexpected skeletal phenotypeS 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 ..
- Hypocalcemic rickets and dilated cardiomyopathy: case reports and review of literatureJennifer 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 ..
- Nutritional rickets in developing countriesJohn M Pettifor
Department of Paediatrics, Chris Hani Baragwanath Hospital, Johannesburg, South Africa
Forum Nutr 56:176-8. 2003
- Radiological and biochemical resolution of nutritional rickets with calciumL 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. 2003To determine the response to oral calcium in Nigerian children with rickets.
- [Rickets in a child]Harpa Kristinsdóttir
Laeknadeild Háskóla Islands
Laeknabladid 97:477-80. 2011Vitamin D is necessary for normal bone growth. Deficiency of vitamin D can lead to rickets in children and osteomalacia in adults...
- [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. 2006To 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.
- [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. 2007Delayed 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...
- [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
- [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. 2003Vitamin D deficiency rickets often causes growth retardation, impaired bone formation and hypocalcemia in children...
- Rickets among children of a coastal area of BangladeshM 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 ..
- SOLAR ultraviolet radiation and vitamin D: a historical perspectiveKumaravel Rajakumar
Department of Pediatrics, University of Pittsburgh School of Medicine, Pittsburgh, PA 15213, USA
Am J Public Health 97:1746-54. 2007b>Rickets, the state of vitamin D deficiency, has reemerged as a potential problem in the United States...
- The rachitic boneFrank Rauch
Genetics Unit, Shriners Hospital for Children, Montreal, Quebec, Canada
Endocr Dev 6:69-79. 2003
- Ectopic thymic parathyroid adenoma and vitamin D deficiency rickets: a 5-year-follow-up case report and review of literaturePisit 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. 2008Sixteen 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...
- Vitamin D deficiency rickets and osteomalacia in IsraelYosef Weisman
Isr Med Assoc J 5:289-90. 2003
- 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. 2005Epidemiological 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%..
- Vitamin D receptor gene polymorphisms in Turkish children with vitamin D deficient ricketsGamze Bora
Departments of Medical Biology, Hacettepe University Faculty of Medicine, Ankara, Turkey
Turk J Pediatr 50:30-3. 2008Vitamin D deficient rickets is prevalent in Turkey and a considerable number of children are at risk of growth retardation, impaired bone formation and fracture...
- Pediatrician patterns of prescribing vitamin supplementation for infants: do they contribute to rickets?Marsha L Davenport
Pediatrics 113:179-80. 2004
- Vitamin D receptor polymorphism among rickets children in MongoliaAkie Kaneko
Health Promotion, Division of Public Health, Graduate School of Tokyo Medical and Dental University, Yushima, Tokyo, Japan
J Epidemiol 17:25-9. 2007It 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...
- Celiac disease presenting as rickets in Saudi childrenAsaad Assiri
Department of Pediatric, King Khalid University Hospital, King Saud University, Riyadh, Saudi Arabia
Ann Saudi Med 33:49-51. 2013b>Rickets is commonly seen as a sign of malabsorption like celiac disease if it is not treated appropriately with vitamin D and calcium supplements...
- Hypophosphatemia leads to rickets by impairing caspase-mediated apoptosis of hypertrophic chondrocytesYves Sabbagh
Endocrine Unit, Massachusetts General Hospital, Harvard Medical School, Boston, MA 02114, USA
Proc Natl Acad Sci U S A 102:9637-42. 2005b>Rickets is seen in association with vitamin D deficiency and in several genetic disorders associated with abnormal mineral ion homeostasis...
- Iron status and fibroblast growth factor-23 in Gambian childrenVickie 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...
- Physiopathology of dental rickets in vitamin D receptor-ablated miceV 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.
- [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. 2005To 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 ..
- Prevention of nutritional rickets in Nigerian children with dietary calcium supplementationTom D Thacher
Department of Family Medicine TDT, Mayo Clinic, 200 First Street, SW, Rochester, MN 55905, USA
Bone 50:1074-80. 2012Nutritional 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)...
- [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. 2010To 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 ..
- Bioelectrical impedance analysis of the body composition of Nigerian children with calcium-deficiency ricketsD J VanderJagt
Department of Biochemistry and Molecular Biology, University of New Mexico, School of Medicine, Albuquerque 87131, USA
J Trop Pediatr 47:92-7. 2001Children 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...
- Symptomatic rickets in adolescenceH Narchi
Al Hasa Specialty Services Division, Saudi Aramco Al Hasa Health Center, Box 6030, Mubarraz 31311, Saudi Arabia
Arch Dis Child 84:501-3. 2001To describe 21 cases of symptomatic rickets in adolescents.
- Sunlight exposure and development of rickets in Indian toddlersV 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...
- Management of nutritional rickets in Indian children: a randomized controlled trialVarun Aggarwal
Department of Pediatrics, Kalawati Saran Children s Hospital and Lady Hardinge Medical College, New Delhi, India
J Trop Pediatr 59:127-33. 2013b>Rickets is usually attributed to vitamin D deficiency. However, recent studies have implicated dietary calcium deficiency in its etiology...
- Infantile osteopetrosis with superimposed ricketsKorcan Aysun Gonen
Medical Faculty, Department of Radiology, Uludag University, Gorukle, Bursa, Turkey 16059
Pediatr Radiol 43:189-95. 2013b>Rickets is a complication of infantile osteopetrosis and pre-treatment recognition of this complication is important.
- High frequencies of elevated alkaline phosphatase activity and rickets exist in extremely low birth weight infants despite current nutritional supportShannon M Mitchell
Department of Pediatrics, Baylor College of Medicine and Texas Children s Hospital, Houston, Texas, USA
BMC Pediatr 9:47. 2009Osteopenia and rickets are common among extremely low birth weight infants (ELBW, <1000 g birth weight) despite current practices of vitamin and mineral supplementation...
- Report of two unrelated patients with hereditary vitamin D resistant rickets due to the same novel mutation in the vitamin D receptorJamal M Aljubeh
Division of Endocrinology, Pediatrics Institute, Sheikh Khalifah Medical City, Abu Dhabi, United Arab Emirates
J Pediatr Endocrinol Metab 24:793-9. 2011Two unrelated patients found to have hereditary vitamin D resistant rickets (HVDRR) were admitted to our hospital.
- Hypophosphatemic rickets with hypocalciuria following long-term treatment with aluminum-containing antacidJ Foldes
Department of Medicine, Henry Ford Hospital, Detroit, Michigan
Bone 12:67-71. 1991We 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...
- 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 geneNikta 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)...
- Vitamin D deficiency and rickets in children and adolescents with ichthyosiform erythroderma in type IV and V skinK 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. 2012Ichthyosiform erythroderma due to keratinizing disorders may suppress cutaneous vitamin D synthesis, leading to vitamin D deficiency and rickets.
- Congenital rickets presenting with hypocalcaemic seizuresZ 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...
- Hypophosphataemic rickets/osteomalacia: a descriptive analysisS K Bhadada
Departments of Endocrinology and Histopathology, Postgraduate Institute of Medical Education and Research, Chandigarh, India
Indian J Med Res 131:399-404. 2010Hypophosphataemic rickets/osteomalacia (HRO) is an uncommon metabolic bone disorder which affects all ages and either sex...
- Serum alkaline phosphatase levels in healthy children and evaluation of alkaline phosphatase z-scores in different types of ricketsSerap 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.
- Ichthyosiform erythroderma with rickets: report of five casesG Sethuraman
Department of Dermatology and Venereology, All India Institute of Medical Sciences, New Delhi 110029, India
Br J Dermatol 158:603-6. 2008We 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...
- The presentation of rickets to orthopaedic clinics: return of the English diseaseHaris Naseem
Department of Orthopaedics, East Lancashire Hospitals NHS Trust, Royal Blackburn Hospital, Blackburn, U K
Acta Orthop Belg 77:239-45. 2011b>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...
- Rickets and vitamin D deficiency in children and adolescentsJohn M Pettifor
Department of Paediatrics, Chris Hani Baragwanath Hospital, Soweto 2013, South Africa
Endocrinol Metab Clin North Am 34:537-53, vii. 2005This 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...
- Vitamin D receptor polymorphisms and nutritional rickets in Nigerian childrenP R Fischer
Department of Pediatric and Adolescent Medicine, Mayo Clinic, Rochester, Minnesota 55905, USA
J Bone Miner Res 15:2206-10. 2000Nutritional 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...
- A novel CYP27B1 mutation causes a feline vitamin D-dependent rickets type IARobert 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 ..
- Incidental radiological diagnosis of ricketsL M Rennie
Department of Accident and Emergency Medicine, Royal Hospital for Sick Children, Edinburgh, Scotland
Emerg Med J 22:534-7. 2005b>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...
- A systematic review of nutritional rickets in Ethiopia: status and prospectsYimenu Wondale
Department of Pediatrics and Child Health, Tikur Anbessa Specialized Hospital, Faculty of Medicine, Addis Ababa University, Ethiopia
Ethiop Med J 43:203-10. 2005Nutritional 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.
- Variable presentations of rickets in children in the emergency departmentErete 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. 2004Vitamin 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...
- Nutritional rickets and vitamin D deficiency--association with the outcomes of childhood very severe pneumonia: a prospective cohort studySalem M Banajeh
Sana a University, Sana a, Yemen
Pediatr Pulmonol 44:1207-15. 2009The association of rickets and vitamin D deficiency (VDD) with pneumonia is well documented, but not with its outcomes.
- Maternal vitamin D deficiency, refractory neonatal hypocalcaemia, and nutritional ricketsS D Shenoy
Arch Dis Child 90:437-8. 2005
- Meat consumption reduces the risk of nutritional rickets and osteomalaciaMatthew 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...
- 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 networkJames A Taylor
University of Washington School of Medicine and Seattle Children s Hospital, Seattle, WA 98195, USA
Clin Pediatr (Phila) 49:1103-10. 2010To 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 ..
- Epidermolytic hyperkeratosis with ricketsSurajit 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...
- Symptomatic nutritional rickets in a teenager with autistic spectrum disorderC 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...
- 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 typeMarcos Morey
Fundacion Publica Galega de Medicina Xenomica, Santiago de Compostela, Spain
BMC Med Genet 12:116. 2011Genetic 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...
- Relationship between rickets and incomplete distal renal tubular acidosis in childrenAbiola O Oduwole
Department of Paediatrics, Lagos University Teaching Hospital, Idi Araba, Lagos, Nigeria
Ital J Pediatr 36:54. 2010In the Sub Saharan Africa Rickets has now been established to be due primarily to calcium deficiency and sometimes in combination with vitamin D deficiency...
- Vitamin D deficiency rickets mimicking pseudohypoparathyroidismLeyla Akin
Department of Pediatrics, Erciyes University Faculty of Medicine, Kayseri, Turkey
J Clin Res Pediatr Endocrinol 2:173-5. 2010Vitamin 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 ..
- Adolescent rickets in Saudi Arabia: a rich and sunny countryMohamed 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...
- Harriette Chick and the problem of ricketsKenneth J Carpenter
Department of Nutritional Sciences, University of California, Berkeley, CA 94720 3104, USA
J Nutr 138:827-32. 2008
- Refractory rickets in the tropicsM Sahay
Department of Nephrology, Osmania General Hospital, Hyderabad, India
J Pediatr Endocrinol Metab 23:597-601. 2010b>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...
- 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 ..
- Fractures in infants and toddlers with ricketsTeresa 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. 2010b>Rickets affects young infants and toddlers. However, there is a paucity of literature regarding the types of fractures that occur in rachitic patients.
- Rickets: emerging from obscurityCAROL WAGNER
Am Fam Physician 74:561-2. 2006
- Food allergy as a risk factor for nutritional ricketsA T Fox
Department of Paediatric Allergy, St Mary s Hospital, London, UK
Pediatr Allergy Immunol 15:566-9. 2004The 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...
- An outbreak of rickets in Corriedale sheep: evidence for a genetic aetiologyK 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 ..
- Phosphorylation of FGF23 coordinates crosstalk between the skeleton and kidneyVINCENT 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 ..
- Vitamin D and Estrogen Action in Bone: Concerted Role for hnRNPs in the C FamilyJohn 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 ..
- Bioassay for Breast Cancer PreventionJoEllen 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...
- Classical and non-classical responses to vitamin D in children: the role of DBP gThomas O Carpenter; Fiscal Year: 2010DESCRIPTION (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 (..
- Vitamin D and fibroblast growth factor 23 physiology in adolescent girlsDEBORAH MICHELLE MITCHELL; Fiscal Year: 2012..are characterized by FGF23 excess, including X-linked hypophosphatemia, autosomal dominant hypophosphatemic rickets, and tumor-induced osteomalacia...
- Comparison of Bisphosphonate Treatment Regimens on Skeletal Growth &BiomechanicsMarie Demay; Fiscal Year: 2013..impairs apoptosis of hypertrophic chondrocytes, both in vivo and in vitro, leading to the development of rickets in growing animals...
- Conditional Isolation of Fgf23 ActivityKenneth 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 ..
- 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...
- Molecular regulation of renal 125(OH)2D production by Fibroblast Growth Factor23Farzana Perwad; Fiscal Year: 2010..Disorders of vitamin D metabolism causes rickets in children and osteomalacia in adults due to abnormal bone mineralization...
- Mineralization of the matrix in disease and healthPETER 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...
- Identification and Function of nuDMP1 in Odontoblast DifferentiationYongbo 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 ..
- Fibroblast Growth Factor 23 (FGF23) and It's ReceptorsJyothsna 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...
- Molecular Pathogenesis and Treatment of HypophosphatasiaJose Luis Millan; Fiscal Year: 2013DESCRIPTION (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...
- Innovative mouse model to study parathyroids and an application to human diseaseBeate 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...
- Calcium-Sensing Receptors and Growth Plate DevelopmentWenhan Chang; Fiscal Year: 2012..Delayed cell differentiation in the growth plate can produce chondrodysplasia, hypophosphatasia, rickets, and growth retardation...
- Characterizing interactions of the VDR and the canonical Wnt signatling pathwayHilary 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...
- A Systems Genetics Approach to Fracture HealingLOUIS CHARLES GERSTENFELD; Fiscal Year: 2013..modeled using parathyroid hormone (PTH) treatment, which enhances healing, and phosphate deficiency, which mimics rickets and inhibits healing...
- Calcitonin for treating X-linked hypophosphatemiaKARL LEONARD INSOGNA; Fiscal Year: 2012..These combined biochemical abnormalities result in defective skeletal mineralization manifested as rickets in children and osteomalacia in adults...
- CLINICAL AND GENETIC ANALYSIS OF ADHRMichael 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 ..
- Control of FGF23 Bioactivity via Circulating alpha-KlothoKenneth 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...
- Pathophysiologic Regulation of Fgf-23 in Phosphate Homeostasis: Role of Vitamin DBeate Lanske; Fiscal Year: 2012..Changes in serum FGF23 levels in humans result in rickets, osteomalacia, or tumoral calcinosis...
- Dietary and hormonal regulation of FGF-23 in humansSherri 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...
- BONE CELL REGULATION OF THE VITAMIN D RECEPTOR GENEJ Wesley Pike; Fiscal Year: 2013..Several mouse models of hereditary 1,25(OH)2D3 resistant rickets will be created and evaluated...
- FGF2 Isoforms in Bone and Phosphate HomeostasisMARJA MARIE HURLEY; Fiscal Year: 2013..expression of nuclear HMWFGF2 in osteoblasts/osteocytes in Hyp mice, a murine model of X-linked hypophosphatemic rickets (XLH)...
- FGF-23 REGULATION OF PHOSPHATE HOMEOSTASISKenneth 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...
- 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...
- DMP1 Mutations: Defects in OdontogenesisJian 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 ..
- VITAMIN D RECEPTOR AND REGULATION OF HORMONE RESPONSEDavid 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...
- TNSALP Mutations in Atypical Femoral Fractures with Long-Term Bisphosphonate UseSTEVEN 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 ..
- NIAMS: CORTThomas 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...
- Establishing the Vitamin D Requirements During LactationBruce 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...
- Etiology and Therapy of Rickets in the Hyp mouse model of XLHMarie Demay; Fiscal Year: 2013..impairs apoptosis of hypertrophic chondrocytes in vivo and in vitro, leading to the development of rickets in growing animals...
- Role of renal sodium-phosphate co-transporter NaPI-Iic in phosphate homeostasisClemens 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...
- Activators of the Pyrophosphatase Activity of Alkaline PhosphataseJose Luis Millan; Fiscal Year: 2007unreadable] 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 ..
- MOLECULAR PATHOGENESIS OF HYPOPHOSPHATEMIC RICKETSSuzanne 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 ..
- Dietary Factors Affecting Calcium and Zinc AbsorptionSteven 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...
- Prevention of Vitamin D Deficiency in Breastfed InfantsEkhard 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...
- X-LINKED HYPOPHOSPHATEMIA: IGF-1 INHIBITORSRalph Meyer; Fiscal Year: 1990X-linked hypophosphatemia (vitamin D-resistant rickets) is caused by mutant dominant genes on the X chromosome of humans (HYP; HPDR) and mice (Hyp)...
- MECHANISMS OF BONE GROWTH IN FISH HYPEROSTOSISLeslie 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...
- Vitamin D Hormone Signaling in Bone Mineral HomeostasisMark 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...
- ROLE OF PHOSPHOLIPIDS IN MINERALIZATION OF OSTEOIDDavid 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 ..
- Pathophysiologic Regulation of Fgf-23 in Phosphate Homeostasis: Role of Vitamin DBeate 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...
- RECEPTOR MUTANTS IN VITAMIN D RESISTANT RICKETS OF BONEMark Hughes; Fiscal Year: 1991..information to analyze defective receptor proteins in families with the genetic disease, vitamin D- resistant rickets - type II...
- NOVEL FUNCTIONS OF THE VITAMIN D RECEPTOR AND DISEASEMARK 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...
- IDENTIFICATION OF NOVEL PHOSPHATE REGULATORSHARALD 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 ..
- PHOSPHOLIPIDS AND MINERALIZATION OF OSTEOIDDavid 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 ..
- Role of FGF-23 in Regulation of Phosphate HomeostasisSuzanne Jan de Beur; Fiscal Year: 2004Oncogenic osteomalacia (OOM), X linked hypophosphatemic rickets (XLH) and autosomal dominant hypophosphatemic rickets (ADHR) are phenotypically similar disorders characterized by hypophosphatemia, decreased renal phosphate reabsorption, ..
- Mineralization and the Role of MatrixphosphoglycoproteinPeter Rowe; Fiscal Year: 2005X-linked hypophosphatemic rickets (HYP) is associated with severe defects in renal phosphate handling, vitamin D metabolism and mineralization...
- PATHOGENESIS OF OSTEOPETRO-RICKETSMark 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 ..
- Osteoblast Derived Pathogenic Factors in Hyp MiceNorimoto Yanagawa; Fiscal Year: 2005X-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 ..
- PHOSPHOTONIN--A NOVEL PHOSPHATE REGULATORY HORMONESuzanne Jan de Beur; Fiscal Year: 2003..X-linked hypophosphatemic rickets (XLH) is a genetic syndrome with clinical manifestations similar to OOM...
- A Critical Role of DMP-1 in MineralizationJian 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...
- VITAMIN D P450 FUNCTION--NATURAL & DIRECTED MUTAGENESISJohn Omdahl; Fiscal Year: 2002..1-13.3, the same site that was previously identified for pseudovitamin D-deficient rickets (PDDR)...
- 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)...
- CLONING AND CHARACTERIZATION OF HUMAN CYP25Norman 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 ..
- REGULATION OF BONE SIALOPROTEIN (BSP) EXPRESSION IN VIVOJake 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...
- STRUCTURE/FUNCTION STUDIES OF THE VITAMIN D RECEPTORG 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...
- MOLECULAR PROBING OF VITAMIN D RECEPTORRahul 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...
- ISOLATION OF A PHOSPHATE REGULATOR FROM MOUSE BONE CELLSThomas 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,..
- Physiological regulation of FGF-23 by dietary phosphateSHERRI ANN BURNETT; Fiscal Year: 2004X-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...
- THE PHOTOBIOLOGY OF VITAMIN DMichael 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. ..
- PTH (7-34) for Chemotherapy alopecia in Breast CancerMichael Holick; Fiscal Year: 2006..unreadable] [unreadable]..
- TWO X-LINKED GENES THAT REGULATE MINERAL HOMEOSTASISMichael Whyte; Fiscal Year: 2002....
- Proximal Tubule Transport Defect in Hyp MiceMichel 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...
- PEDIATRIC NEPHROLOGY TRAININGMichel 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. ..
- Tools for mapping transcriptional networksUri 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]..