Research Topics
Genomes and GenesSpecies | Michael WhyteSummaryAffiliation: Shriners Hospitals for Children Country: USA Publications
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Publications
Fibrodysplasia ossificans progressiva: middle-age onset of heterotopic ossification from a unique missense mutation (c.974G>C, p.G325A) in ACVR1Michael P Whyte
Center for Metabolic Bone Disease and Molecular Research, Shriners Hospital for Children, St Louis, MO 63131, USA
J Bone Miner Res 27:729-37. 2012..If the diagnosis of FOP is unclear, ACVR1 mutation analysis is available at certified laboratories...- Enzyme-replacement therapy in life-threatening hypophosphatasiaMichael P Whyte
Center for Metabolic Bone Disease and Molecular Research, Shriners Hospital for Children, St Louis, MO 63131, USA
N Engl J Med 366:904-13. 2012..There is no approved medical therapy. ENB-0040 is a bone-targeted, recombinant human TNSALP that prevents the manifestations of hypophosphatasia in Tnsalp knockout mice... - Bisphosphonate-induced osteopetrosis: novel bone modeling defects, metaphyseal osteopenia, and osteosclerosis fractures after drug exposure ceasesMichael P Whyte
Center for Metabolic Bone Disease and Molecular Research, Shriners Hospitals for Children, St Louis, Missouri 63131 3597, USA
J Bone Miner Res 23:1698-707. 2008..In conclusion, bisphosphonate toxicity during childhood can impair skeletal modeling and remodeling with structural changes that evolve and carry into adult life... - Misinterpretation of osteodensitometry with high bone density: BMD Z > or = + 2.5 is not "normal"Michael P Whyte
Division of Bone and Mineral Diseases, Washington University School of Medicine at Barnes Jewish Hospital, St Louis, MO 63110, USA
J Clin Densitom 8:1-6. 2005..Illustrated here, the absence of upper limits for BMD in the WHO criteria jeopardizes recognition of high-BMD disease for all age groups. This oversight requires correction using Z-scores... - Camurati-Engelmann disease: unique variant featuring a novel mutation in TGF?1 encoding transforming growth factor beta 1 and a missense change in TNFSF11 encoding RANK ligandMichael P Whyte
Center for Metabolic Bone Disease and Molecular Research, Shriners Hospital for Children, St Louis, MO 63131, USA
J Bone Miner Res 26:920-33. 2011..0%) we tested randomly among individuals without CED. Perhaps the unique phenotype of this CED family is conditioned by altered RANKL activity... - Dysosteosclerosis presents as an "osteoclast-poor" form of osteopetrosis: comprehensive investigation of a 3-year-old girl and literature reviewMichael P Whyte
Center for Metabolic Bone Disease and Molecular Research, Shriners Hospital for Children, St Louis, MO 63131, USA
J Bone Miner Res 25:2527-39. 2010..Genomic copy-number microarray was unrevealing. Hence, DSS is a distinctive OPT of unknown etiology featuring osteoclast deficiency during early childhood. How osteopenia follows is an enigma of human skeletal pathobiology... - Elevated serum lactate dehydrogenase isoenzymes and aspartate transaminase distinguish Albers-Schönberg disease (Chloride Channel 7 Deficiency Osteopetrosis) among the sclerosing bone disordersMichael P Whyte
Center for Metabolic Bone Disease and Molecular Research, Shriners Hospital for Children, St Louis, MO 63131 3597, USA
J Bone Miner Res 25:2515-26. 2010..Hence, high serum levels of several enzymes characterize A-SD. Elevated serum LDH isoenzymes and AST indicate a disturbance (of uncertain clinical significance) within multiple extraosseous tissues when there is CLCN7 deficiency... - Paget's disease of bone and genetic disorders of RANKL/OPG/RANK/NF-kappaB signalingMichael P Whyte
Center for Metabolic Bone Disease and Molecular Research, Shriners Hospitals for Children, 2001 South Lindbergh Boulevard, St Louis, MO 63131, USA
Ann N Y Acad Sci 1068:143-64. 2006..Biochemical markers indicate rapid skeletal remodeling. In FEO, osteolysis progresses to fat-filled bone rather than to osteosclerosis. Antiresorptive therapy with bisphosphonates can be effective for each disorder... - Clinical practice. Paget's disease of boneMichael P Whyte
Division of Bone and Mineral Diseases, Washington University School of Medicine at Barnes-Jewish Hospital, and the Center for Metabolic Bone Disease and Molecular Research, St. Louis, USA
N Engl J Med 355:593-600. 2006 - Adult hypophosphatasia treated with teriparatideMichael P Whyte
Center for Metabolic Bone Disease and Molecular Research, Shriners Hospitals for Children, and Division of Bone and Mineral Diseases, Washington University School of Medicine at Barnes Jewish Hospital, St Louis, MI 63131 3597, USA
J Clin Endocrinol Metab 92:1203-8. 2007..Affected adults manifest osteomalacia, often with slowly healing metatarsal stress fractures (MTSFs) and proximal femur pseudofractures. Pharmacotherapy remains elusive... - Chronic recurrent multifocal osteomyelitis mimicked in childhood hypophosphatasiaMichael P Whyte
Center for Metabolic Bone Disease and Molecular Research, Shriners Hospitals for Children, St Louis, Missouri 63131 3597, USA
J Bone Miner Res 24:1493-505. 2009..HPP should be considered when CRMO is a diagnostic possibility. Metaphyseal radiographic changes and marrow edema associated with periarticular bone pain and soft tissue swelling suggestive of osteomyelitis can complicate childhood HPP... - Juvenile Paget's disease: the second reported, oldest patient is homozygous for the TNFRSF11B "Balkan" mutation (966_969delTGACinsCTT), which elevates circulating immunoreactive osteoprotegerin levelsMichael P Whyte
Center for Metabolic Bone Disease and Molecular Research, Shriners Hospitals for Children, St Louis, Missouri 63131, USA
J Bone Miner Res 22:938-46. 2007..Elevated circulating levels of immunoreactive OPG and soluble RANKL accompany this genetic defect that truncates the OPG monomer, preventing formation of OPG homodimers... - Atypical femoral fractures, bisphosphonates, and adult hypophosphatasiaMichael P Whyte
Division of Bone and Mineral Diseases, Washington University School of Medicine at Barnes Jewish Hospital, and Center for Metabolic Bone Disease and Molecular Research, Shriners Hospitals for Children, St Louis, Missouri, USA
J Bone Miner Res 24:1132-4. 2009.... - Skeletal fluorosis and instant teaMichael P Whyte
Division of Bone and Mineral Diseases, Washington University School of Medicine at Barnes-Jewish Hospital, 660 South Euclid, Box 8301, St. Louis, Missouri 63110, USA
Am J Med 118:78-82. 2005 - Heritable disorders of the RANKL/OPG/RANK signaling pathwayMichael P Whyte
Center for Metabolic Bone Disease and Molecular Research, Shriners Hospitals for Children, St Louis 63131, USA
J Musculoskelet Neuronal Interact 4:254-67. 2004..These disorders resemble PDB which can be inherited as an autosomal dominant trait with focal osteolytic disease, sometimes with deafness and tooth loss, and increasingly associated with mutations, but in other genes... - Physiological role of alkaline phosphatase explored in hypophosphatasiaMichael P Whyte
Shriners Hospital for Children, St Louis, Missouri, USA
Ann N Y Acad Sci 1192:190-200. 2010..Trials of alkaline phosphatase replacement therapy for HPP suggest that TNSALP functions at the level of skeletal tissues... - Marrow cell transplantation for infantile hypophosphatasiaMichael P Whyte
Center for Metabolic Bone Disease and Molecular Research, Shriners Hospitals for Children, St Louis, Missouri 63131 3597, USA
J Bone Miner Res 18:624-36. 2003.... - Osteoprotegerin deficiency and juvenile Paget's diseaseMichael P Whyte
Center for Metabolic Bone Disease and Molecular Research, Shriners Hospitals for Children, St Louis, MO 63131, USA
N Engl J Med 347:175-84. 2002..Osteoprotegerin deficiency could explain juvenile Paget's disease because osteoprotegerin suppresses bone turnover by functioning as a decoy receptor for osteoclast differentiation factor (also called RANK ligand)... - Bisphosphonate-induced osteopetrosisMichael P Whyte
Center for Metabolic Bone Disease and Molecular Research, Shriners Hospitals for Children, St. Louis, MO 63131-3597, USA
N Engl J Med 349:457-63. 2003 - Familial expansile osteolysis (excessive RANK effect) in a 5-generation American kindredMichael P Whyte
Center for Metabolic Bone Disease and Molecular Research, Shriners Hospitals for Children, St. Louis, Missouri 63131, USA
Medicine (Baltimore) 81:101-21. 2002 - Expansile skeletal hyperphosphatasia is caused by a 15-base pair tandem duplication in TNFRSF11A encoding RANK and is allelic to familial expansile osteolysisMichael P Whyte
Center for Metabolic Bone Disease and Molecular Research, Shriners Hospitals for Children, St Louis, Missouri 63131, USA
J Bone Miner Res 17:26-9. 2002..Hence, ESH and FEO are allelic diseases and ESH, like FEO, probably reflects increased activity in the skeleton of the RANK target, nuclear factor-kappaB (NF-kappaB)... - Homozygosity for TNSALP mutation 1348c>T (Arg433Cys) causes infantile hypophosphatasia manifesting transient disease correction and variably lethal outcome in a kindred of black ancestryMichael P Whyte
Center for Metabolic Bone Disease and Molecular Research, Shriners Hospitals for Children, Washington University School of Medicine at Barnes-Jewish Hospital, St. Louis, Missouri 63131, USA
J Pediatr 148:753-8. 2006..In this experience, only this family was of black ancestry. CONCLUSIONS: Infantile HPP from homozygous TNSALP(433Cys) can remit and thus harbor clues regarding the phenotypic variation and perhaps treatment of HPP... - Denaturing gradient gel electrophoresis analysis of the tissue nonspecific alkaline phosphatase isoenzyme gene in hypophosphatasiaSteven Mumm
Division of Bone and Mineral Diseases, Washington University School of Medicine at Barnes Jewish Hospital Research Institute, St Louis, Missouri 63110, USA
Mol Genet Metab 75:143-53. 2002.... - Longitudinal evolution of bone mineral density and bone markers in human immunodeficiency virus-infected individualsKristin Mondy
Division of Infectious Diseases, Department of Internal Medicine, Washington University School of Medicine, St. Louis, MO 63108, USA
Clin Infect Dis 36:482-90. 2003..Traditional risk factors and advanced HIV infection play a more significant pathogenic role in the development of osteopenia and osteoporosis associated with HIV infection than do treatment-associated factors... - Skeletal fluorosis from instant teaMichael P Whyte
Division of Bone and Mineral Diseases, Washington University School of Medicine at Barnes Jewish Hospital, St Louis, Missouri, USA
J Bone Miner Res 23:759-69. 2008..e., >4 mg/liter). Black and green teas can contain significant amounts of F(-). In 2005, SF caused by drinking 1-2 gallons of double-strength instant tea daily throughout adult life was reported in a 52-yr-old woman... - Infantile hypophosphatasia: transplantation therapy trial using bone fragments and cultured osteoblastsRichard A Cahill
Pediatric Research Institute, Cardinal Glennon Children s Hospitals, St Louis, Missouri 63110, USA
J Clin Endocrinol Metab 92:2923-30. 2007..There is no established medical treatment. In 1997, an 8-month-old girl with worsening and life-threatening infantile HPP improved considerably after marrow cell transplantation... - Absence of MMP2 mutation in idiopathic multicentric osteolysis with nephropathyDeborah Wenkert
Center for Metabolic Bone Disease and Molecular Research, Shriners Hospitals for Children, St Louis, MO, USA
Clin Orthop Relat Res 462:80-6. 2007..The genetic bases of idiopathic multicentric osteolysis disorders remain unknown... - Skeletal fluorosis from brewed teaKenneth Izuora
Division of Endocrinology, Department of Medicine, Emory University, School of Medicine, Atlanta, Georgia 3032, USA
J Clin Endocrinol Metab 96:2318-24. 2011..Beginning in 2005, we showed that daily consumption of 1-2 gallons of instant tea made from this plant can lead to SF... - Congenital blindness and osteoporosis-pseudoglioma syndromeDave H Lee
St Louis University Eye Institute, St Louis, MO 63104, USA
J AAPOS 7:75-7. 2003..OPPG is usually not suspected until fractures occur, frequently after seemingly minor trauma. We report the ophthalmic findings of an infant girl with OPPG... - Autosomal recessive hypophosphatasia manifesting in utero with long bone deformity but showing spontaneous postnatal improvementDavid A Stevenson
Division of Medical Genetics, Department of Pediatrics, 2C412 SOM, University of Utah Health Sciences Center, Salt Lake City, Utah 84132, USA
J Clin Endocrinol Metab 93:3443-8. 2008..Patient age when skeletal problems first manifest generally predicts the clinical course, with perinatal HPP causing bone disease in utero with postnatal lethality... - High-bone-mass disease and LRP5Michael P Whyte
N Engl J Med 350:2096-9; author reply 2096-9. 2004 - Paternally inherited inactivating mutations of the GNAS1 gene in progressive osseous heteroplasiaEileen M Shore
Department of Orthopaedic Surgery, University of Pennsylvania School of Medicine, Philadelphia 19104 6018, USA
N Engl J Med 346:99-106. 2002..AHO is caused by heterozygous inactivating mutations in the GNAS1 gene that result in decreased expression or function of the alpha subunit of the stimulatory G protein (Gsalpha) of adenylyl cyclase... - Oropharyngeal skeletal disease accompanying high bone mass and novel LRP5 mutationMichael R Rickels
Division of Endocrinology, Diabetes and Metabolism, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, USA
J Bone Miner Res 20:878-85. 2005..A 59-year-old woman carrying a novel LRP5 missense mutation, Arg154Met, manifested skeletal disease affecting her oropharynx as well as dense bones, showing that exuberant LRP5 effects are not always benign... - Manifestations in a family with autosomal dominant bone fragility and limb-girdle myopathySarju G Mehta
Division of Genetics and Metabolism, Children's Hospital, Harvard Medical School, Boston, Massachusetts 02115, USA
Am J Med Genet A 140:322-30. 2006..Elucidation of the novel molecular basis of this disorder may provide valuable links between bone, collagen and muscle, and targeted therapeutic options... - Pyridoxine-responsive seizures as the first symptom of infantile hypophosphatasia caused by two novel missense mutations (c.677T>C, p.M226T; c.1112C>T, p.T371I) of the tissue-nonspecific alkaline phosphatase geneSara Baumgartner-Sigl
Department of Pediatrics, Medical University Innsbruck, Austria
Bone 40:1655-61. 2007..We recommend that assessment of any neonate with PRS should include measurement of serum ALP activity... - Fluoride levels in bottled teasMichael P Whyte
Am J Med 119:189-90. 2006 - The long and the short of bone therapyMichael P Whyte
N Engl J Med 354:860-3. 2006 - Low serum alkaline phosphatase activity and pathologic fracture: case report and brief review of hypophosphatasia diagnosed in adulthoodHasnain M Khandwala
Division of Endocrinology, University of Saskatchewan, Saskatoon, Saskatchewan, Canada
Endocr Pract 12:676-81. 2006..To describe an elderly patient with low serum alkaline phosphatase (ALP) activity detected after a pathologic fracture and to characterize hypophosphatasia in adult patients... - Elevated plasma 4-pyridoxic acid in renal insufficiencyStephen P Coburn
Department of Biochemistry, Fort Wayne State Developmental Center, Fort Wayne, IN 46835, USA
Am J Clin Nutr 75:57-64. 2002..Renal insufficiency is associated with altered vitamin B-6 metabolism. We have observed high concentrations of 4-pyridoxic acid, the major catabolite of vitamin B-6 metabolism, in plasma during renal insufficiency... - Clinical studies in familial VCP myopathy associated with Paget disease of bone and frontotemporal dementiaVirginia E Kimonis
Division of Genetics and Metabolism, Children s Hospital, Harvard Medical School, Boston, Massachusetts, USA
Am J Med Genet A 146:745-57. 2008..The presence of PDB in 28 (57%) individuals suggests that measuring serum alkaline phosphatase (ALP) activity may be a useful screen for IBMPFD in patients with myopathy... - X-linked hypoparathyroidism region on Xq27 is evolutionarily conserved with regions on 3q26 and 13q34 and contains a novel P-type ATPaseM Andrew Nesbit
Academic Endocrine Unit, Nuffield Department of Clinical Medicine, University of Oxford, Oxford Centre for Diabetes, Endocrinology and Metabolism, Churchill Hospital, Headington, Oxford OX3 7LJ, UK
Genomics 84:1060-70. 2004..Analyses of ATP11C, MCF2, SOX3, and U7snRNA in HPT patients did not reveal mutations, implicating regulatory changes or mutation of an as yet unidentified gene in the etiology of X-linked hypoparathyroidism... - Neonatal lethal osteochondrodysplasia with low serum levels of alkaline phosphatase and osteocalcinMyra H Wyckoff
Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, Texas 75390, USA
J Clin Endocrinol Metab 90:1233-40. 2005.... - MMP13 mutation causes spondyloepimetaphyseal dysplasia, Missouri type (SEMD(MO)Ann M Kennedy
Academic Endocrine Unit, Nuffield Department of Clinical Medicine, University of Oxford, Oxford Centre for Diabetes, Endocrinology and Metabolism (OCDEM, Churchill Hospital, Oxford, United Kingdom
J Clin Invest 115:2832-42. 2005..Thus, the F56S mutation results in deficiency of MMP13, which leads to the human skeletal developmental anomaly of SEMD(MO)... - Mapping autosomal dominant progressive limb-girdle myopathy with bone fragility to chromosome 9p21-p22: a novel locus for a musculoskeletal syndromeGiles D J Watts
Division of Genetics and Metabolism, Children's Hospital, Harvard Medical School, 300 Longwood Avenue, Fegan 10, Boston, MA, 02115, USA
Hum Genet 118:508-14. 2005..This region also localizes diaphyseal medullary stenosis with malignant fibrous histiocytoma (DMS-MFH). Identification of the disease gene will be necessary to understand the pathogenesis of this complex disorder... - An interstitial deletion-insertion involving chromosomes 2p25.3 and Xq27.1, near SOX3, causes X-linked recessive hypoparathyroidismMichael R Bowl
Academic Endocrine Unit, Nuffield Department of Medicine, University of Oxford, Oxford Centre for Diabetes, Endocrinology and Metabolism OCDEM, Churchill Hospital, Oxford, United Kingdom
J Clin Invest 115:2822-31. 2005..5 and 15.5 days post coitum. Thus, our results indicate a likely new role for SOX3 in the embryonic development of the parathyroid glands... - Recovery from skeletal fluorosis (an enigmatic, American case)Etah S Kurland
Department of Medicine, Columbia University Medical Center, New York, NY 10032, USA
J Bone Miner Res 22:163-70. 2007..Nearly a decade of detailed follow-up documented considerable correction of the disorder after removal of the putative source of fluoride (toothpaste)... - Sporadic hyperphosphatasia syndrome featuring periostitis and accelerated skeletal turnover without receptor activator of nuclear factor-kappaB, osteoprotegerin, or sequestosome-1 gene defectsSuat Simsek
Department of Endocrinology Diabetes Center, VU University Medical Center, P O Box 7057, Boelelaan 1117, 1007 MB Amsterdam, The Netherlands
J Clin Endocrinol Metab 92:1897-901. 2007.... - Enzyme replacement therapy for murine hypophosphatasiaJose Luis Millan
Burnham Institute for Medical Research, La Jolla, California 92037, USA
J Bone Miner Res 23:777-87. 2008..Babies with the infantile form of HPP often die with severe rickets and sometimes hypercalcemia and vitamin B6-dependent seizures. There is no established medical treatment... - Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing proteinGiles D J Watts
Division of Genetics, Children s Hospital Boston, 300 Longwood Avenue, Harvard Medical School, Boston, Massachusetts 02115, USA
Nat Genet 36:377-81. 2004..Identification of VCP as causing IBMPFD has important implications for other inclusion-body diseases, including myopathies, dementias and Paget disease of bone (PDB), as it may define a new common pathological ubiquitin-based pathway...
Research Grants
- TWO X-LINKED GENES THAT REGULATE MINERAL HOMEOSTASISMichael Whyte; Fiscal Year: 2002....