Steven Mumm

Summary

Affiliation: Washington University School of Medicine
Country: USA

Publications

  1. ncbi request reprint Deactivating germline mutations in LEMD3 cause osteopoikilosis and Buschke-Ollendorff syndrome, but not sporadic melorheostosis
    Steven Mumm
    Washington University School of Medicine, St Louis, Missouri 63110, USA
    J Bone Miner Res 22:243-50. 2007
  2. doi request reprint Hypophosphatasia: nonlethal disease despite skeletal presentation in utero (17 new cases and literature review)
    Deborah Wenkert
    Center for Metabolic Bone Disease and Molecular Research, Shriners Hospital for Children, St Louis, MO 63131 3597, USA
    J Bone Miner Res 26:2389-98. 2011
  3. doi request reprint Chronic recurrent multifocal osteomyelitis mimicked in childhood hypophosphatasia
    Michael 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
  4. pmc Dysosteosclerosis presents as an "osteoclast-poor" form of osteopetrosis: comprehensive investigation of a 3-year-old girl and literature review
    Michael 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
  5. ncbi request reprint Infantile hypophosphatasia: transplantation therapy trial using bone fragments and cultured osteoblasts
    Richard A Cahill
    Pediatric Research Institute, Cardinal Glennon Children s Hospitals, St Louis, Missouri 63110, USA
    J Clin Endocrinol Metab 92:2923-30. 2007
  6. pmc Camurati-Engelmann disease: unique variant featuring a novel mutation in TGFβ1 encoding transforming growth factor beta 1 and a missense change in TNFSF11 encoding RANK ligand
    Michael 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
  7. ncbi request reprint Absence of MMP2 mutation in idiopathic multicentric osteolysis with nephropathy
    Deborah 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
  8. ncbi request reprint Juvenile Paget's disease: the second reported, oldest patient is homozygous for the TNFRSF11B "Balkan" mutation (966_969delTGACinsCTT), which elevates circulating immunoreactive osteoprotegerin levels
    Michael 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
  9. doi request reprint Severe skeletal toxicity from protracted etidronate therapy for generalized arterial calcification of infancy
    Jesse E Otero
    Medical Scientist Training Program, Washington University School of Medicine, St Louis, MO, USA
    J Bone Miner Res 28:419-30. 2013
  10. doi request reprint Elevated serum lactate dehydrogenase isoenzymes and aspartate transaminase distinguish Albers-Schönberg disease (Chloride Channel 7 Deficiency Osteopetrosis) among the sclerosing bone disorders
    Michael 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

Collaborators

  • Jose Luis Millan
  • Michael Davies
  • M Zulf Mughal
  • S P Coburn
  • Michael Whyte
  • Carrie L Heike
  • Suat Simsek
  • DAVID ANDREW STEVENSON
  • C Sergi
  • Deborah Wenkert
  • William H McAlister
  • Karen L Ericson
  • Jesse E Otero
  • Richard A Cahill
  • Sara Baumgartner-Sigl
  • Sarju G Mehta
  • Hasnain M Khandwala
  • Michael R Rickels
  • Xiafang Zhang
  • Myra H Wyckoff
  • Tina Kiffer-Moreira
  • Katherine L Madson
  • Gary S Gottesman
  • Campbell Sheen
  • Joseph H Hersh
  • Lawrence M Ryan
  • Janice A Zerega
  • Stefanie M Wiegand
  • Ann Steele
  • Sabine Scholl-Burgi
  • Wolfgang Hogler
  • Edda Haberlandt
  • Lawrence Ryan
  • Sharon A Perlman
  • Deborah Novack
  • Sheena Ramdeen
  • Sara Jane Hamilton
  • Giles D J Watts
  • Virginia E Kimonis
  • Barbara McGillivray
  • Christine Briggs
  • Abbot Laptook
  • Francis H Gannon
  • Charles Timmons
  • Chirine El-Turk

Detail Information

Publications26

  1. ncbi request reprint Deactivating germline mutations in LEMD3 cause osteopoikilosis and Buschke-Ollendorff syndrome, but not sporadic melorheostosis
    Steven Mumm
    Washington University School of Medicine, St Louis, Missouri 63110, USA
    J Bone Miner Res 22:243-50. 2007
    ..Others, finding deactivating germline LEMD3 mutations in OPK or BOS, concluded such defects explain all three conditions. We found germline LEMD3 mutations in OPK and BOS but not in sporadic MEL...
  2. doi request reprint Hypophosphatasia: nonlethal disease despite skeletal presentation in utero (17 new cases and literature review)
    Deborah Wenkert
    Center for Metabolic Bone Disease and Molecular Research, Shriners Hospital for Children, St Louis, MO 63131 3597, USA
    J Bone Miner Res 26:2389-98. 2011
    ..However, bowed fetal long bones with AR HPP, specific TNSALP mutations, or poor skeletal mineralization before the third trimester do not reliably diagnose HPP lethality...
  3. doi request reprint Chronic recurrent multifocal osteomyelitis mimicked in childhood hypophosphatasia
    Michael 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...
  4. pmc Dysosteosclerosis presents as an "osteoclast-poor" form of osteopetrosis: comprehensive investigation of a 3-year-old girl and literature review
    Michael 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...
  5. ncbi request reprint Infantile hypophosphatasia: transplantation therapy trial using bone fragments and cultured osteoblasts
    Richard 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...
  6. pmc Camurati-Engelmann disease: unique variant featuring a novel mutation in TGFβ1 encoding transforming growth factor beta 1 and a missense change in TNFSF11 encoding RANK ligand
    Michael 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...
  7. ncbi request reprint Absence of MMP2 mutation in idiopathic multicentric osteolysis with nephropathy
    Deborah 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...
  8. ncbi request reprint Juvenile Paget's disease: the second reported, oldest patient is homozygous for the TNFRSF11B "Balkan" mutation (966_969delTGACinsCTT), which elevates circulating immunoreactive osteoprotegerin levels
    Michael 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...
  9. doi request reprint Severe skeletal toxicity from protracted etidronate therapy for generalized arterial calcification of infancy
    Jesse E Otero
    Medical Scientist Training Program, Washington University School of Medicine, St Louis, MO, USA
    J Bone Miner Res 28:419-30. 2013
    ..Although EHDP treatment is lifesaving in GACI, surveillance for toxicity is crucial...
  10. doi request reprint Elevated serum lactate dehydrogenase isoenzymes and aspartate transaminase distinguish Albers-Schönberg disease (Chloride Channel 7 Deficiency Osteopetrosis) among the sclerosing bone disorders
    Michael 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...
  11. ncbi request reprint Denaturing gradient gel electrophoresis analysis of the tissue nonspecific alkaline phosphatase isoenzyme gene in hypophosphatasia
    Steven 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
    ....
  12. ncbi request reprint Adult hypophosphatasia treated with teriparatide
    Michael 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...
  13. ncbi request reprint Marrow cell transplantation for infantile hypophosphatasia
    Michael 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
    ....
  14. doi request reprint Fibrodysplasia ossificans progressiva: middle-age onset of heterotopic ossification from a unique missense mutation (c.974G>C, p.G325A) in ACVR1
    Michael 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...
  15. ncbi request reprint Osteoprotegerin deficiency and juvenile Paget's disease
    Michael 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)...
  16. ncbi request reprint Low serum alkaline phosphatase activity and pathologic fracture: case report and brief review of hypophosphatasia diagnosed in adulthood
    Hasnain 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...
  17. ncbi request reprint Homozygosity for TNSALP mutation 1348c>T (Arg433Cys) causes infantile hypophosphatasia manifesting transient disease correction and variably lethal outcome in a kindred of black ancestry
    Michael 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
    ....
  18. ncbi request reprint 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 gene
    Sara 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...
  19. ncbi request reprint Bisphosphonate-induced osteopetrosis
    Michael 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
  20. ncbi request reprint High-bone-mass disease and LRP5
    Michael P Whyte
    N Engl J Med 350:2096-9; author reply 2096-9. 2004
  21. ncbi request reprint Neonatal lethal osteochondrodysplasia with low serum levels of alkaline phosphatase and osteocalcin
    Myra H Wyckoff
    Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, Texas 75390, USA
    J Clin Endocrinol Metab 90:1233-40. 2005
    ....
  22. pmc Autosomal recessive hypophosphatasia manifesting in utero with long bone deformity but showing spontaneous postnatal improvement
    David 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...
  23. ncbi request reprint Oropharyngeal skeletal disease accompanying high bone mass and novel LRP5 mutation
    Michael 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...
  24. ncbi request reprint Skeletal changes in epidermal nevus syndrome: does focal bone disease harbor clues concerning pathogenesis?
    Carrie L Heike
    Department of Pediatrics, Children s Craniofacial Center, University of Washington and Children s Hospital and Regional Medical Center, Seattle, Washington 98105 5371, USA
    Am J Med Genet A 139:67-77. 2005
    ..We postulate that the focal skeletal disease, although different than fibrous dysplasia, may be a source of FGF-23 in ENS...
  25. ncbi request reprint Manifestations in a family with autosomal dominant bone fragility and limb-girdle myopathy
    Sarju 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...
  26. ncbi request reprint Sporadic hyperphosphatasia syndrome featuring periostitis and accelerated skeletal turnover without receptor activator of nuclear factor-kappaB, osteoprotegerin, or sequestosome-1 gene defects
    Suat 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
    ....