BEST1

Summary

Gene Symbol: BEST1
Description: bestrophin 1
Alias: ARB, BEST, BMD, RP50, TU15B, VMD2, Best disease, Best1V1Delta2, bestrophin-1, vitelliform macular dystrophy protein 2
Species: human

Top Publications

  1. ncbi Hemodilution as a method to reduce transfusion requirements in adolescent spine fusion surgery
    L A Copley
    Department of Orthopaedic Surgery, Eglin Air Force Base, Florida, USA
    Spine (Phila Pa 1976) 24:219-22; discussion 223-4. 1999
  2. ncbi [The best of thrombosis and thromboembolic disease in 1999]
    E Ferrari
    Service de cardiologie, , Nice
    Arch Mal Coeur Vaiss 93:77-81. 2000
  3. ncbi Best's vitelliform macular dystrophy caused by a new mutation (Val89Ala) in the VMD2 gene
    L Eksandh
    Department of Ophthalmology, University Hospital, Lund, Sweden
    Ophthalmic Genet 22:107-15. 2001
  4. ncbi Calcium-dependent chloride conductance in epithelia: is there a contribution by Bestrophin?
    Karl Kunzelmann
    Institut fur Physiologie, Universitat Regensburg, Universitatsstrasse 31, 93053, Regensburg, Germany
    Pflugers Arch 454:879-89. 2007
  5. ncbi Mutation analysis of 3 genes in patients with Leber congenital amaurosis
    A J Lotery
    Department of Ophthalmology and Visual Sciences, University of Iowa Hospitals and Clinics, Iowa City, USA
    Arch Ophthalmol 118:538-43. 2000
  6. ncbi Genetic linkage of vitelliform macular degeneration (Best's disease) to chromosome 11q13
    E M Stone
    Department of Ophthalmology, University of Iowa, College of Medicine, Iowa City 52242
    Nat Genet 1:246-50. 1992
  7. ncbi Differential macular and peripheral expression of bestrophin in human eyes and its implication for best disease
    Robert F Mullins
    Carver Family Center for Macular Degeneration, Department of Ophthalmology and Visual Science, The University of Iowa Carver College of Medicine, Iowa City, Iowa 52242, USA
    Invest Ophthalmol Vis Sci 48:3372-80. 2007
  8. doi Ocular phenotype analysis of a family with biallelic mutations in the BEST1 gene
    Dror Sharon
    Department of Ophthalmology, Hadassah Hebrew University Medical Center, Jerusalem, Israel
    Am J Ophthalmol 157:697-709.e1-2. 2014
  9. pmc Clinical evaluation of two consanguineous families with homozygous mutations in BEST1
    Teresa Piñeiro-Gallego
    Departamento de Bioquimica, Genética e Inmunología, Facultad de Biologia, Universidad de Vigo, Vigo, Spain
    Mol Vis 17:1607-17. 2011
  10. doi A homozygous frameshift mutation in BEST1 causes the classical form of Best disease in an autosomal recessive mode
    Hanna Bitner
    Department of Ophthalmology, Hadassah Hebrew University Medical Center, Jerusalem, Israel
    Invest Ophthalmol Vis Sci 52:5332-8. 2011

Detail Information

Publications240 found, 100 shown here

  1. ncbi Hemodilution as a method to reduce transfusion requirements in adolescent spine fusion surgery
    L A Copley
    Department of Orthopaedic Surgery, Eglin Air Force Base, Florida, USA
    Spine (Phila Pa 1976) 24:219-22; discussion 223-4. 1999
    ..Although all methods have some efficacy, it is not clear which methods, separate or combined, are best in the adolescent scoliosis population...
  2. ncbi [The best of thrombosis and thromboembolic disease in 1999]
    E Ferrari
    Service de cardiologie, , Nice
    Arch Mal Coeur Vaiss 93:77-81. 2000
    ..This emphasises the importance of early diagnosis which is usually possible without resorting to invasive procedures and by modulating all the results of paraclinical investigations with respect to the pretest clinical probability...
  3. ncbi Best's vitelliform macular dystrophy caused by a new mutation (Val89Ala) in the VMD2 gene
    L Eksandh
    Department of Ophthalmology, University Hospital, Lund, Sweden
    Ophthalmic Genet 22:107-15. 2001
    To describe the clinical phenotype in a family with Best's vitelliform macular dystrophy (BMD) and a new mutation (Val89Ala) in the VMD2 gene.
  4. ncbi Calcium-dependent chloride conductance in epithelia: is there a contribution by Bestrophin?
    Karl Kunzelmann
    Institut fur Physiologie, Universitat Regensburg, Universitatsstrasse 31, 93053, Regensburg, Germany
    Pflugers Arch 454:879-89. 2007
    ..Mutations in the bestrophin gene cause an autosomal form of macular dystrophy of the retina. Bestrophin 1 is assumed to form the basolateral Ca(2+)-activated Cl(-) channel in the retinal pigment epithelium of the eye...
  5. ncbi Mutation analysis of 3 genes in patients with Leber congenital amaurosis
    A J Lotery
    Department of Ophthalmology and Visual Sciences, University of Iowa Hospitals and Clinics, Iowa City, USA
    Arch Ophthalmol 118:538-43. 2000
    ..To assess the frequency of mutations in the CRX, GUCY2D, and RPE65 genes in patients with Leber congenital amaurosis (LCA)...
  6. ncbi Genetic linkage of vitelliform macular degeneration (Best's disease) to chromosome 11q13
    E M Stone
    Department of Ophthalmology, University of Iowa, College of Medicine, Iowa City 52242
    Nat Genet 1:246-50. 1992
    Macular degeneration is the most common cause of legal blindness in older patients in developed countries. Best's vitelliform dystrophy is an early-onset, autosomal dominant form of macular degeneration characterized by an egg-yolk-like ..
  7. ncbi Differential macular and peripheral expression of bestrophin in human eyes and its implication for best disease
    Robert F Mullins
    Carver Family Center for Macular Degeneration, Department of Ophthalmology and Visual Science, The University of Iowa Carver College of Medicine, Iowa City, Iowa 52242, USA
    Invest Ophthalmol Vis Sci 48:3372-80. 2007
    b>Best disease, or vitelliform macular degeneration, is an autosomal dominant form of macular degeneration that is caused by mutations in the gene encoding bestrophin...
  8. doi Ocular phenotype analysis of a family with biallelic mutations in the BEST1 gene
    Dror Sharon
    Department of Ophthalmology, Hadassah Hebrew University Medical Center, Jerusalem, Israel
    Am J Ophthalmol 157:697-709.e1-2. 2014
    ..To investigate the genetic cause and perform a comprehensive clinical analysis of a Danish family with autosomal recessive bestrophinopathy; to investigate whether Bestrophin may be expressed in normal human retina...
  9. pmc Clinical evaluation of two consanguineous families with homozygous mutations in BEST1
    Teresa Piñeiro-Gallego
    Departamento de Bioquimica, Genética e Inmunología, Facultad de Biologia, Universidad de Vigo, Vigo, Spain
    Mol Vis 17:1607-17. 2011
    To describe the clinical and genetic findings in two consanguineous families with Best vitelliform macular dystrophy (BVMD) and homozygous mutations in the bestrophin-1 (BEST1) gene.
  10. doi A homozygous frameshift mutation in BEST1 causes the classical form of Best disease in an autosomal recessive mode
    Hanna Bitner
    Department of Ophthalmology, Hadassah Hebrew University Medical Center, Jerusalem, Israel
    Invest Ophthalmol Vis Sci 52:5332-8. 2011
    b>Best disease is a monogenic macular degeneration caused mainly by heterozygous mutations in the BEST1 gene...
  11. doi Anterior segment abnormalities and angle-closure glaucoma in a family with a mutation in the BEST1 gene and Best vitelliform macular dystrophy
    Elisabeth Wittström
    Department of Ophthalmology, Lund University, Sweden
    Ophthalmic Genet 32:217-27. 2011
    To present the clinical and electrophysiological findings in four members of a family with Best vitelliform macular dystrophy (BVMD) and angle-closure glaucoma (ACG).
  12. doi Phenotype and genotype of patients with autosomal recessive bestrophinopathy
    Ian M Macdonald
    University of Alberta, Edmonton, Alberta, Canada
    Ophthalmic Genet 33:123-9. 2012
    ..To describe the phenotype and genotype of patients with autosomal recessive bestrophinopathy...
  13. pmc Phenotypic variability due to a novel Glu292Lys variation in exon 8 of the BEST1 gene causing best macular dystrophy
    Elliott H Sohn
    Doheny Eye Institute and Department of Ophthalmology, Keck School of Medicine of University of Southern California, Los Angeles, CA 90033, USA
    Arch Ophthalmol 127:913-20. 2009
    To study the phenotypic characteristics of patients with a novel p.E292K mutation in BEST1.
  14. doi Autosomal recessive bestrophinopathy: differential diagnosis and treatment options
    Camiel J F Boon
    Department of Ophthalmology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Ophthalmology 120:809-20. 2013
    To describe the clinical and genetic characteristics of patients with autosomal recessive bestrophinopathy (ARB).
  15. ncbi Hereditary maculardegeneration (HMD) in 246 cases traced to one gene-source in central Sweden
    S Nordstrom
    Hereditas 84:163-76. 1977
  16. doi Unilateral vitelliform phenotype in autosomal recessive bestrophinopathy
    Maria Lucia Cascavilla
    Department of Ophthalmology, University Vita Salute San Raffaele, San Raffaele Scientific Institute, Milan, Italy
    Ophthalmic Res 48:146-50. 2012
    It was the aim of this study to report on a patient in whom a novel mutation in the BEST1 gene was responsible for unilateral vitelliform phenotype in autosomal recessive bestrophinopathy (ARB).
  17. doi Nonsense-mediated decay as the molecular cause for autosomal recessive bestrophinopathy in two unrelated families
    Esther Pomares
    Departament de Genetica, Facultat de Biologia, Universitat de Barcelona, Barcelona, Spain
    Invest Ophthalmol Vis Sci 53:532-7. 2012
    To characterize the molecular basis of two novel BEST1 mutations causing autosomal recessive bestrophinopathy (ARB)...
  18. pmc Autosomal dominant Best disease with an unusual electrooculographic light rise and risk of angle-closure glaucoma: a clinical and molecular genetic study
    Sancy Low
    NIHR Biomedical Research Centre for Ophthalmology, Moorfields Eye Hospital and UCL Institute of Ophthalmology, London, UK
    Mol Vis 17:2272-82. 2011
    To describe the clinical and molecular characteristics of two families with autosomal dominant Best disease and atypical electrooculography (EOG).
  19. ncbi A novel mutation in the VMD2 gene in an Italian family with Best maculopathy
    A Sodi
    Department of Oto Neuro Ophthalmological Surgical Sciences, University of Florence, Italy
    J Fr Ophtalmol 30:616-20. 2007
    Vitelliform macular dystrophy (Best disease) is an inherited macular degeneration in which the primary defect is thought to occur at the level of the retinal pigment epithelium...
  20. ncbi A novel spontaneous missense mutation in VMD2 gene is a cause of a best macular dystrophy sporadic case
    G Palomba
    Istituto di Genetica Molecolare, CNR, Alghero, Italy
    Am J Ophthalmol 129:260-2. 2000
    To report the molecular characterization of a novel VMD2 mutation causing a Best macular dystrophy sporadic case.
  21. doi Functional characterization of bestrophin-1 missense mutations associated with autosomal recessive bestrophinopathy
    Alice E Davidson
    School of Biomedicine, The University of Manchester, Manchester Academic Health Science Centre, Central Manchester University Hospitals, NHS Foundation Trust, Manchester, United Kingdom
    Invest Ophthalmol Vis Sci 52:3730-6. 2011
    ..macular and retinal pigmented epithelium function resulting from homozygous or compound heterozygous mutations in BEST1. In this study we characterize the functional implications of missense bestrophin-1 mutations that cause ARB by ..
  22. pmc Ocular phenotypes associated with biallelic mutations in BEST1 in Italian patients
    Andrea Sodi
    Department of Specialized Surgical Sciences, Eye Clinic, University of Florence, Italy
    Mol Vis 17:3078-87. 2011
    To report on the phenotype and the genotype of Italian patients carrying BEST1 mutations on both alleles.
  23. pmc Structure-function analysis of the bestrophin family of anion channels
    Takashi Tsunenari
    Department of Neuroscience, The Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, USA
    J Biol Chem 278:41114-25. 2003
    ..These experiments provide the first structural analysis of the bestrophin channel family...
  24. pmc Dysregulation of human bestrophin-1 by ceramide-induced dephosphorylation
    Qinghuan Xiao
    Department of Cell Biology and Center for Neurodegenerative Disease, Emory University School of Medicine, Atlanta, GA 30322, USA
    J Physiol 587:4379-91. 2009
    ..Mutations in Best1 have also been linked to several other forms of retinopathy...
  25. ncbi Identification of the gene responsible for Best macular dystrophy
    K Petrukhin
    Department of Human Genetics, Merck Research Laboratories, West Point, Pennsylvania 19486, USA
    Nat Genet 19:241-7. 1998
    Best macular dystrophy (BMD), also known as vitelliform macular dystrophy (VMD2; OMIM 153700), is an autosomal dominant form of macular degeneration characterized by an abnormal accumulation of lipofuscin within and beneath the retinal ..
  26. pmc Bestrophins and retinopathies
    Qinghuan Xiao
    Department of Cell Biology and Center for Neurodegenerative Disease, Emory University School of Medicine, Atlanta, GA 30322, USA
    Pflugers Arch 460:559-69. 2010
    b>Best vitelliform macular dystrophy (BVMD, also called Best's disease) is a dominantly inherited, juvenile-onset form of macular degeneration, which is characterized by abnormal accumulation of yellow pigment in the outer retina and a ..
  27. pmc Bestrophin-1 enables Ca2+-activated Cl- conductance in epithelia
    Rene Barro Soria
    Institut fur Physiologie, Universitat Regensburg, Universitätsstrabetae 31, D 93053 Regensburg, Germany
    J Biol Chem 284:29405-12. 2009
    ..Here, we demonstrate molecular and functional expression of bestrophin-1 (BEST1) in mouse and human airways, colon, and kidney...
  28. doi Systematic screening of BEST1 and PRPH2 in juvenile and adult vitelliform macular dystrophies: a rationale for molecular analysis
    Isabelle Meunier
    Centre de Référence Maladies Sensorielles Génétiques, Hopital Gui de Chauliac, Montpellier, France
    Ophthalmology 118:1130-6. 2011
    To evaluate a genetic approach of BEST1 and PRPH2 screening according to age of onset, family history, and Arden ratio in patients with juvenile vitelliform macular dystrophy (VMD2) or adult-onset vitelliform macular dystrophy (AVMD), ..
  29. pmc Bestrophin, the product of the Best vitelliform macular dystrophy gene (VMD2), localizes to the basolateral plasma membrane of the retinal pigment epithelium
    A D Marmorstein
    Department of Ophthalmic Research, Cole Eye Institute, and Department of Cell Biology, Lerner Research Institute, The Cleveland Clinic Foundation, 9500 Euclid Avenue, Cleveland OH 44195, USA
    Proc Natl Acad Sci U S A 97:12758-63. 2000
    ..Although the vitelliform lesion is common in the fundus of individuals with Best disease, diagnosis is based on a reduced ratio of the light peak to dark trough in the electrooculogram...
  30. pmc The vitelliform macular dystrophy protein defines a new family of chloride channels
    Hui Sun
    Department of Molecular Biology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA
    Proc Natl Acad Sci U S A 99:4008-13. 2002
    Vitelliform macular dystrophy (VMD/Best disease; MIM*153700) is an early-onset autosomal dominant disorder in which accumulation of lipofuscin-like material within and beneath the retinal pigment epithelium is associated with a ..
  31. doi The spectrum of ocular phenotypes caused by mutations in the BEST1 gene
    Camiel J F Boon
    Department of Ophthalmology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Prog Retin Eye Res 28:187-205. 2009
    Bestrophin-1 is an integral membrane protein, encoded by the BEST1 gene, which is located in the basolateral membrane of the retinal pigment epithelium...
  32. ncbi Genotype-phenotype correlation and longitudinal course in ten families with Best vitelliform macular dystrophy
    B Wabbels
    Department of Paediatric Ophthalmology, Strabismology and Ophthalmogenetics, University of Regensburg, Klinikum, Franz Josef Strauss Allee 11, 93053 Regensburg, Germany
    Graefes Arch Clin Exp Ophthalmol 244:1453-66. 2006
    ..Longitudinal course and genotype-phenotype correlation in patients and carriers with heterozygous mutations in hBEST1 (bestrophin)...
  33. ncbi Late onset is common in best macular dystrophy associated with VMD2 gene mutations
    Agnes B Renner
    Augenklinik, Charite Campus Benjamin Franklin, Universitatsmedizin Berlin, Berlin, Germany
    Ophthalmology 112:586-92. 2005
    To perform a detailed morphologic and functional evaluation of Best macular dystrophy (BMD) associated with mutations in the VMD2 gene.
  34. pmc Interaction of bestrophin-1 and Ca2+ channel β-subunits: identification of new binding domains on the bestrophin-1 C-terminus
    Vladimir M Milenkovic
    Experimental Ophthalmology, Eye Hospital, University Medical Center Regensburg, Regensburg, Germany
    PLoS ONE 6:e19364. 2011
    ..In summary, we described new proline-rich motifs on bestrophin-1 C-terminus, which help to maintain the ability of β-subunits to regulate surface expression of pore-forming Ca(V) Ca(2+)-channel subunits...
  35. ncbi Bestrophin interacts physically and functionally with protein phosphatase 2A
    Lihua Y Marmorstein
    Department of Ophthalmic Research, Cole Eye Institute, The Cleveland Clinic Foundation, 9500 Euclid Avenue, Cleveland, OH 44195, USA
    J Biol Chem 277:30591-7. 2002
    ..It is encoded by the VMD2 gene, which is mutated in Best macular dystrophy, a disease characterized by a depressed light peak in the electrooculogram...
  36. ncbi Variant phenotype of Best vitelliform macular dystrophy associated with compound heterozygous mutations in VMD2
    Patrik Schatz
    Department of Ophthalmology, Lund University Hospital, Lund, Sweden
    Ophthalmic Genet 27:51-6. 2006
    To characterize the phenotype of members of a Swedish family with Best macular dystrophy and two distinct mutations in VMD2.
  37. pmc Functional and clinical data of Best vitelliform macular dystrophy patients with mutations in the BEST1 gene
    Giuseppe Querques
    Department of Ophthalmology, Hopital Intercommunal de Creteil, University Paris XII, Paris, France
    Mol Vis 15:2960-72. 2009
    To analyze functional and clinical data of Best vitelliform macular dystrophy (VMD) patients with mutations in the BEST1 gene.
  38. pmc A synonymous codon variant in two patients with autosomal recessive bestrophinopathy alters in vitro splicing of BEST1
    Alice E Davidson
    School of Biomedicine, The University of Manchester, Manchester Academic Health Science Centre, Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK
    Mol Vis 16:2916-22. 2010
    ..bestrophinopathy (ARB) is a newly defined retinal dystrophy caused by biallelic mutations in bestrophin-1 (BEST1) and is hypothesized to represent the null bestrophin-1 phenotype in humans...
  39. pmc Phenotypic variability in a French family with a novel mutation in the BEST1 gene causing multifocal best vitelliform macular dystrophy
    Emmanuelle Lacassagne
    Universite Paris Descartes, Faculté de Médecine Paris Descartes site Necker, CERTO, Paris, France
    Mol Vis 17:309-22. 2011
    To describe genetic and clinical findings in a French family affected by best vitelliform macular dystrophy (BVMD).
  40. ncbi Bestrophin gene mutations in patients with Best vitelliform macular dystrophy
    G M Caldwell
    Department of Cancer Genetics, Roswell Park Cancer Institute, 666 Elm Street, Buffalo, New York 14263, USA
    Genomics 58:98-101. 1999
    b>Best vitelliform macular dystrophy (VMD2) is an autosomal dominant dystrophy with a juvenile age of onset. Mutations in the Bestrophin gene were shown in patients affected with VMD2...
  41. ncbi Mutations of VMD2 splicing regulators cause nanophthalmos and autosomal dominant vitreoretinochoroidopathy (ADVIRC)
    Jill Yardley
    Academic Unit of Medical Genetics and Regional Genetics Service, St Mary s Hospital, Manchester, United Kingdom
    Invest Ophthalmol Vis Sci 45:3683-9. 2004
    ..To investigate the genetic basis of autosomal dominant vitreoretinochoroidopathy (ADVIRC), a rare, inherited retinal dystrophy that may be associated with defects of ocular development, including nanophthalmos...
  42. doi Eag1 and Bestrophin 1 are up-regulated in fast-growing colonic cancer cells
    Melanie Spitzner
    Institut fur Physiologie, Universitat Regensburg, Universitatsstrasse 31, D 93053 Regensburg, Germany
    J Biol Chem 283:7421-8. 2008
    ..b>Bestrophin 1 (Best1) has been proposed to form Ca(2+)-activated Cl(-) channels in epithelial cells...
  43. ncbi Mutations in the VMD2 gene are associated with juvenile-onset vitelliform macular dystrophy (Best disease) and adult vitelliform macular dystrophy but not age-related macular degeneration
    F Kramer
    Institut fur Humangenetik, Universitat Wurzburg, Germany
    Eur J Hum Genet 8:286-92. 2000
    ..the VMD2 gene has been identified as the causative gene in juvenile-onset vitelliform macular dystrophy (Best disease), a central retinopathy primarily characterised by an impaired function of the retinal pigment epithelium...
  44. ncbi Mutations in a novel gene, VMD2, encoding a protein of unknown properties cause juvenile-onset vitelliform macular dystrophy (Best's disease)
    A Marquardt
    Institut fur Humangenetik, Universitat Wurzburg, D 97074 Wurzburg, Germany
    Hum Mol Genet 7:1517-25. 1998
    Vitelliform macular dystrophy (Best's disease) is an autosomal dominant, early-onset form of macular degeneration in which the primary defect is thought to occur at the level of the retinal pigment epithelium...
  45. pmc Missense mutations in a retinal pigment epithelium protein, bestrophin-1, cause retinitis pigmentosa
    Alice E Davidson
    Genetic Medicine, The University of Manchester, Manchester Academic Heath Science Centre, Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK
    Am J Hum Genet 85:581-92. 2009
    ..Mutations in the BEST1 gene cause the retinal dystrophies vitelliform macular dystrophy, autosomal-dominant vitreochoroidopathy, and ..
  46. doi Autosomal recessive best vitelliform macular dystrophy: report of a family and management of early-onset neovascular complications
    Alessandro Iannaccone
    Hamilton Eye Institute, Department of Ophthalmology, University of Tennessee Health Science Center, 930 Madison Avenue, Memphis, TN 38163, USA
    Arch Ophthalmol 129:211-7. 2011
    To report a child with early-onset autosomal recessive Best vitelliform macular dystrophy and compound heterozygous BEST1 mutations, the management of a choroidal neovascular membrane with intravitreal bevacizumab in the proband, the ..
  47. doi Morphological and functional changes in multifocal vitelliform retinopathy and biallelic mutations in BEST1
    Elisabeth Wittström
    Department of Ophthalmology, Lund University, Sweden
    Ophthalmic Genet 32:83-96. 2011
    To describe morphological and functional changes in a single patient with multifocal Best vitelliform macular dystrophy (BVMD) and to perform a genotype/phenotype correlation.
  48. doi Autosomal recessive vitelliform macular dystrophy in a large cohort of vitelliform macular dystrophy patients
    Tyson R Kinnick
    Department of Ophthalmology and Visual Sciences, Carver Family Center for Macular Degeneration, University of Iowa, Iowa City, Iowa 52242, USA
    Retina 31:581-95. 2011
    ..To report 11 cases of autosomal recessive vitelliform macular dystrophy and to compare their molecular findings and phenotypic characteristics with those of patients with the more common and well-described dominant form of the disease...
  49. pmc BEST1-related autosomal dominant vitreoretinochoroidopathy: a degenerative disease with a range of developmental ocular anomalies
    A Vincent
    Department of Ophthalmology and Vision Sciences, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada
    Eye (Lond) 25:113-8. 2011
    To describe the spectrum of phenotypic characteristics of BEST1-related autosomal dominant vitreoretinochoroidopathy (ADVIRC) in a family with p.V86M mutation.
  50. pmc Functional roles of bestrophins in ocular epithelia
    Alan D Marmorstein
    Department of Ophthalmology and Vision Science, University of Arizona, Tucson, AZ 85711, USA
    Prog Retin Eye Res 28:206-26. 2009
    ..The gene BEST1 (formerly VMD2) which encodes the protein bestrophin-1 (Best1) was first identified in 1998...
  51. ncbi Three novel human VMD2-like genes are members of the evolutionary highly conserved RFP-TM family
    Heidi Stohr
    Institut fur Humangenetik, Universitat Wurzburg, Germany
    Eur J Hum Genet 10:281-4. 2002
    ..The VMD2 gene underlying Best disease was shown to represent the first human member of the RFP-TM protein family...
  52. ncbi Evaluation of the Best disease gene in patients with age-related macular degeneration and other maculopathies
    R Allikmets
    Intramural Research Support Program, SAIC Frederick, National Cancer Institute Frederick Cancer Research and Development Center, MD 21702 1201, USA
    Hum Genet 104:449-53. 1999
    Vitelliform macular dystrophy (VMD2, Best disease, MIM153700) is an early onset, autosomal, dominant macular degeneration characterized by the deposition of lipofuscin-like material within and below the retinal pigment epithelium (RPE); ..
  53. ncbi Allelic variation in the VMD2 gene in best disease and age-related macular degeneration
    A J Lotery
    Department of Ophthalmology, The University of Iowa College of Medicine, Iowa City 52242, USA
    Invest Ophthalmol Vis Sci 41:1291-6. 2000
    To assess the allelic variation of the VMD2 gene in patients with Best disease and age-related macular degeneration (AMD).
  54. pmc A gene map of the Best's vitelliform macular dystrophy region in chromosome 11q12-q13.1
    H Stohr
    Institute of Human Genetics, University of Wurzburg, Germany
    Genome Res 8:48-56. 1998
    b>Best's vitelliform macular dystrophy is an autosomal dominant disorder of unknown causes. To identify the underlying gene defect the disease locus has been mapped to an approximately 1.4-Mb region on chromosome 11q12-q13.1...
  55. pmc Human disease-causing mutations disrupt an N-C-terminal interaction and channel function of bestrophin 1
    Zhiqiang Qu
    Department of Cell Biology, Emory University School of Medicine, Atlanta, Georgia 30322, USA
    J Biol Chem 284:16473-81. 2009
    Mutations in the human bestrophin 1 (hBest1) chloride channel cause Best vitelliform macular dystrophy...
  56. pmc Biallelic mutation of BEST1 causes a distinct retinopathy in humans
    Rosemary Burgess
    Academic Unit of Medical Genetics and Regional Genetics Service, St Mary s Hospital, Hathersage Road, Manchester M13 0JH, UK
    Am J Hum Genet 82:19-31. 2008
    ..However, unlike two other alleles previously associated with Best disease, cotransfection with wild-type bestrophin-1 did not impair the formation of active wild-type bestrophin-1 ..
  57. ncbi Insertion and topology of normal and mutant bestrophin-1 in the endoplasmic reticulum membrane
    Vladimir M Milenkovic
    Institute of Physiology, University of Regensburg, Franz Josef Strauss Allee 11, D 93053 Regensburg, Germany
    J Biol Chem 282:1313-21. 2007
    The vitelliform macular dystrophy type 2 (VMD2) gene mutated in Best macular dystrophy encodes a 585-amino acid putative transmembrane protein termed bestrophin-1...
  58. ncbi The bestrophin mutation A243V, linked to adult-onset vitelliform macular dystrophy, impairs its chloride channel function
    Kuai Yu
    Department of Cell Biology, The Center for Neurodegenerative Disease, Emory University School of Medicine, 615 Michael Street, Atlanta, GA 30322, USA
    Invest Ophthalmol Vis Sci 47:4956-61. 2006
    It has been proposed that Best vitelliform macular dystrophy (BVMD) is caused by dysfunction in the Cl(-) channel function of human bestrophin-1 (hBest1), but some patients with BVMD who have the hBest1 A243V mutation have normal electro-..
  59. ncbi VMD2 mutations in vitelliform macular dystrophy (Best disease) and other maculopathies
    K White
    Institut fur Humangenetik, Universitat Wurzburg, Wurzburg, Germany
    Hum Mutat 15:301-8. 2000
    Mutations in the gene VMD2 are associated with autosomal dominant vitelliform macular dystrophy (Best disease)...
  60. doi Evaluation of macular structure and function by OCT and electrophysiology in patients with vitelliform macular dystrophy due to mutations in BEST1
    Patrik Schatz
    Department of Ophthalmology, Glostrup Hospital, University of Copenhagen, Glostrup, Denmark
    Invest Ophthalmol Vis Sci 51:4754-65. 2010
    To analyze retinal structure and function in vitelliform macular dystrophy (VMD) due to mutations in BEST1.
  61. ncbi The anion-selective pore of the bestrophins, a family of chloride channels associated with retinal degeneration
    Zhiqiang Qu
    Department of Cell Biology, Center for Neurodegenerative Disease, Emory University School of Medicine, Atlanta, Georgia 30322, USA
    J Neurosci 26:5411-9. 2006
    Mutations in human bestrophin-1 (VMD2) are genetically linked to a juvenile form of macular degeneration and autosomal dominant vitreoretinochoroidopathy...
  62. ncbi The role of bestrophin in airway epithelial ion transport
    Valentin Duta
    Department of Physiology, University of Alberta, 7 46 Med Sci Bldg Edmonton, Alta, Canada T6G 2H7
    FEBS Lett 577:551-4. 2004
    ..The data indicate that the presence of a functional bestrophin may contribute to the basolateral cell conductance in airway epithelial cells...
  63. ncbi Identification of novel VMD2 gene mutations in patients with best vitelliform macular dystrophy
    D Marchant
    Centre de Recherche Thérapeutique en Ophtalmologie, Equipe d accueil 2502 MENRT, Universite Rene Descartes Paris V, Faculte de Medecine Necker Enfants Malades, 156 rue de Vaugirard, 75015 Paris, France
    Hum Mutat 17:235. 2001
    ABSTRACT We report five novel VMD2 mutations in Best's macular dystrophy patients (S16F, I73N, R92H, V235L, and N296S). An SSCP analysis of the VMD2 11 exons revealed electrophoretic mobility shifts exclusively in exons 2, 3, 4, 6 and 8...
  64. pmc Bestrophin Cl- channels are highly permeable to HCO3-
    Zhiqiang Qu
    Department of Cell Biology and Center for Neurodegenerative Disease, Emory University School of Medicine, Atlanta, GA 30322 3030, USA
    Am J Physiol Cell Physiol 294:C1371-7. 2008
    Bestrophin-1 (Best1) is a Cl(-) channel that is linked to various retinopathies in both humans and dogs...
  65. doi Mutation analysis of the VMD2 gene in thai families with best macular dystrophy
    La ongsri Atchaneeyasakul
    Department of Ophthalmology, Faculty of Medicine, Siriraj Hospital Mahidol University, Bangkok, Thailand
    Ophthalmic Genet 29:139-44. 2008
    To identify genetic mutations of the VMD2 gene in two Thai families with Best macular dystrophy.
  66. pmc Regulation of bestrophin Cl channels by calcium: role of the C terminus
    Qinghuan Xiao
    Department of Cell Biology and Center for Neurodegenerative Disease, Emory University School of Medicine, Atlanta, GA 30322, USA
    J Gen Physiol 132:681-92. 2008
    ..Many of the approximately 100 disease-causing mutations in hBest1 are located in this region that we have implicated in Ca(2+) sensing, suggesting that these mutations disrupt hBest1 channel gating by Ca(2+)...
  67. doi Novel and homozygous BEST1 mutations in Chinese patients with Best vitelliform macular dystrophy
    Raymond L M Wong
    Department of Ophthalmology and Visual Sciences, Chinese University of Hong Kong, Kowloon, Hong Kong SAR, China
    Retina 30:820-7. 2010
    The purpose of this study was to investigate the BEST1 gene mutations in Chinese patients with Best vitelliform macular dystrophy (BVMD).
  68. ncbi Clinical and genetic heterogeneity in multifocal vitelliform dystrophy
    Camiel J F Boon
    Department of Ophthalmology, Radboud University Nijmegen Medical Centre, PO Box 9101, 6500 HB Nijmegen, The Netherlands
    Arch Ophthalmol 125:1100-6. 2007
    ..To describe the clinical and genetic findings in 15 patients with multifocal vitelliform lesions...
  69. ncbi The mutation spectrum of the bestrophin protein--functional implications
    B Bakall
    Department of Genetics and Pathology, University Hospital, Uppsala, Sweden
    Hum Genet 104:383-9. 1999
    b>Best's macular dystrophy (BMD), also known as vitelliform macular degeneration type 2 (VMD2; OMIM 153700), is an autosomal dominant form of macular degeneration with mainly juvenile onset...
  70. doi Clinical and molecular genetic analysis of best vitelliform macular dystrophy
    Camiel J F Boon
    Department of Ophthalmology, Radboud University Nijmegen Medical Centre, The Netherlands
    Retina 29:835-47. 2009
    To describe the phenotype of Best vitelliform macular dystrophy (BVMD) and to evaluate genotype-phenotype and histopathologic correlations.
  71. pmc New VMD2 gene mutations identified in patients affected by Best vitelliform macular dystrophy
    D Marchant
    Centre de Recherche Thérapeutique en Ophtalmologie, Equipe d accueil 2502 MENRT, Universite Rene Descartes Paris V, Faculte de Medecine Necker Enfants Malades, Paris, France
    J Med Genet 44:e70. 2007
    The mutations responsible for Best vitelliform macular dystrophy (BVMD) are found in a gene called VMD2. The VMD2 gene encodes a transmembrane protein named bestrophin-1 (hBest1) which is a Ca(2+)-sensitive chloride channel...
  72. ncbi 1995 Volvo Award in clinical sciences. The diagnostic accuracy of magnetic resonance imaging, work perception, and psychosocial factors in identifying symptomatic disc herniations
    N Boos
    Department of Orthopaedic Surgery, Inselspital, Switzerland
    Spine (Phila Pa 1976) 20:2613-25. 1995
    ..Stepwise discriminating analysis was used to identify the best discriminating variables within the magnetic resonance image, work perception, and psychosocial categories in terms ..
  73. ncbi Basic and therapeutic trial results obtained in the spontaneous AK leukemia (lymphoma) model-end of 1971
    H E Skipper
    Kettering-Meyer Laboratory, Southern Research Institute, Birmingham, AL, USA
    Cancer Chemother Rep 56:273-87, 289-314. 1972
    ..The best responses observed to date with two-drug combinations appear better on several scores than the best that have been ..
  74. pmc [3H]-idazoxan binding to rabbit cerebral cortex recognises multiple imidazoline I2-type receptors: pharmacological characterization and relationship to monoamine oxidase
    A Renouard
    Institut de Recherches Servier, Surenes, France
    Br J Pharmacol 109:625-31. 1993
    ..01) and computer analysis showed that the [3H]-idazoxan binding data could be best fitted to a model which considers binding to two sites (P < 0.01)...
  75. ncbi [Functional capacity (dyspnea) and quality of life in patients with chronic obstructive lung disease (COPD): instruments of assessment and methodological aspects]
    B O Hütter
    Neurochirurgische Klinik, Universitätsklinikum der Rheinisch Westfälischen Technischen Hochschule RWTH Aachen
    Pneumologie 53:133-42. 1999
    ..A critical review of current measures for dyspnea reveals at best an only fair association between perceived dyspnea and physiological lung function, sharing not more than 30% of ..
  76. ncbi [Interventional radiology in the palliative treatment of pancreatic cancer]
    E Mazza
    Dipartimento di Fisiopatologia Clinica, , Italia
    Tumori 85:S54-9. 1999
    ..Follow-up related to 85 patients shows survival rate covered between 30 and 570 days (mean, 142). Best survival values occurred in patients who underwent "one step" technique...
  77. ncbi A longitudinal study of the perimenopausal transition: altered profiles of steroid and pituitary hormones, SHBG and bone mineral density
    G Rannevik
    Department of Obstetrics and Gynecology, University of Lund, , Sweden
    Maturitas 21:103-13. 1995
    ..Measurements of bone mineral density (BMD) on the forearm were performed every second year...
  78. ncbi Discovering the right questions--our call to action--who will define health care rationing, and how?
    R I Burton
    Department of Orthopaedics, University of Rochester Medical Center, NY 14642 000
    J Hand Surg Am 19:169-80. 1994
    ..care system are needed and it must be improved, but does that justify totally changing a system providing the best care in the world for 200 million people? Or should we build on and improve that which is good and extend it to the ..
  79. ncbi Exfoliation syndrome and exfoliation glaucoma
    E Vesti
    Glaucoma Service, Department of Ophthalmology, Helsinki University Central Hospital, Finland
    Prog Retin Eye Res 19:345-68. 2000
    ..The syndrome occurs worldwide but its prevalence seems to vary from country to country. The best-known sign of exfoliation syndrome is deposits of greyish-white material on the anterior lens surface...
  80. ncbi Capacity of the clinical picture to characterize low back pain relieved by facet joint anesthesia. Proposed criteria to identify patients with painful facet joints
    M Revel
    , , Paris, France
    Spine (Phila Pa 1976) 23:1972-6; discussion 1977. 1998
    ..an interaction between clinical group effect and injection effect, and logistic regression analysis to select the best set of variables that would be predictive of minimum pain relief of 75% after the injection...
  81. ncbi [The best in 2000 on thrombosis]
    E Ferrari
    CHU de Nice, Service de cardiologie, 30, avenue de la Vole-Romaine, 06002 Nice
    Arch Mal Coeur Vaiss 94:69-73. 2001
    ..The earliest possible oral anticancer ... pardon me I anticoagulant treatment should be prescribed and explained...
  82. ncbi A systematic overview of chemotherapy effects in gastric cancer
    K G Janunger
    Department of Surgery, University Hospital, , Sweden
    Acta Oncol 40:309-26. 2001
    ..A statistically significant survival benefit has been shown in trials comparing drug combinations with a best supportive care arm in the treatment of advanced gastric cancer. However, the number of included patients is small...
  83. ncbi Multinucleated giant stromal tumor of the omentum: report of a case with immunohistochemical and ultrastructural investigation
    K W Min
    Department of Pathology, University of Oklahoma Health Sciences Center, Oklahoma City 73104, USA
    Ultrastruct Pathol 20:89-99. 1996
    ..Thus far, no tumor composed of MGSC entirely, to the best of the authors' knowledge, has been reported...
  84. pmc Institutional change. Experiences in two departments
    H J Humphrey
    Department of Medicine, University of Chicago, IL, USA
    J Gen Intern Med 12:S79-82. 1997
    Though the principle may seem simple or fundamental it has been our experience that the best way to develop clinician-educators in an academic setting is to value their contributions...
  85. ncbi [Aerosol disinfection of bacterial spores]
    U Theilen

    Zentralbl Bakteriol Mikrobiol Hyg B 184:229-52. 1987
    ..This part is carried out in an aerosol chamber with airborne spores (laboratory experiments). The best results are obtained with peracetic acid, hydrogen peroxide and formaldehyde are effective with some restrictions...
  86. ncbi Between two wars. Psychoanalysis in Europe, 1918-1938
    S Gifford
    Department of Psychiatry, Harvard Medical School, Boston, Massachusetts
    Psychiatr Clin North Am 17:649-65. 1994
    ..Each country evolved the kind of analysis that suited it best, with a variety of institutions within the same international movement...
  87. pmc Characteristics and causes of penetrating eye injuries reported to the National Eye Trauma System Registry, 1985-91
    L M Parver
    Wilmer Eye Institute, School of Medicine, Johns Hopkins University
    Public Health Rep 108:625-32. 1993
    ..In 62 percent of the cases studied, the injured person's initial best corrected visual acuity in the injured eye was the ability to perceive hand motion, or worse...
  88. ncbi Interrupting the renin-angiotensin system: the role of angiotensin-converting enzyme inhibitors and angiotensin II receptor antagonists in the treatment of hypertension
    M A Weber
    Department of Medicine, The Brookdale University Hospital and Medical Center, Brooklyn, New York 11212, USA
    Am J Hypertens 12:189S-194S. 1999
    ..Angiotensin II receptor blockers (ARB) selectively block the angiotensin II type 1 (AT1) receptor that not only mediates the known effects of angiotensin ..
  89. ncbi Video-assisted lateral intertransverse process arthrodesis. Validation of a new minimally invasive lumbar spinal fusion technique in the rabbit and nonhuman primate (rhesus) models
    S D Boden
    Department of Orthopaedics, Emory University School of Medicine, Atlanta, Georgia, USA
    Spine (Phila Pa 1976) 21:2689-97. 1996
    ..New Zealand white rabbits and five rhesus monkeys at necropsy and during nonsurvival surgeries to determine the best access routes and to develop special instruments for video-assisted lateral intertransverse process arthrodesis...
  90. ncbi Psychological questionnaires: do "abnormal" scores precede or follow first-time low back pain?
    A F Mannion
    Department of Anatomy, University of Bristol, United Kingdom
    Spine (Phila Pa 1976) 21:2603-11. 1996
    ..A prospective study of psychological risk factors for first-time low back pain with repeated use of psychological questionnaires...
  91. ncbi Compression of the upper cervical spinal cord causing symptoms of brainstem compromise. A case report
    W S Rosenberg
    Department of Neurosurgery, University of California, San Francisco, USA
    Spine (Phila Pa 1976) 23:1497-500. 1998
    ..at the level of the third cervical vertebra in the absence of hindbrain herniation are unusual and, to the best of the authors' knowledge, have not been described previously...
  92. ncbi Testosterone enhances estradiol's effects on postmenopausal bone density and sexuality
    S R Davis
    Prince Henry's Institute of Medical Research, Clayton, Victoria, Australia
    Maturitas 21:227-36. 1995
    ..Cyclical oral progestins were taken by those women with an intact uterus. Thirty-two women completed the study. BMD (DEXA) of total body, lumbar vertebrae (L1-L4) and hip area increased significantly in both treatment groups...
  93. ncbi Bone mineral density is inversely related to parathyroid hormone in adolescent girls
    D Bonofiglio
    Dept. of Pharmaco-Biology, University of Calabria, Rende (CS, Italy
    Horm Metab Res 33:170-4. 2001
    ..Dietary calcium and energy intakes were assessed by a 3-day food record method, bone mineral density (BMD) was performed at ultradistal (ud) and proximal (pr) radial sites using dual energy X-ray absorptiometry...
  94. ncbi Biomechanics of vibration reception in the bullfrog, Rana catesbeiana
    T E Hetherington
    Department of Zoology, Ohio State University, Columbus 43210 1293
    J Comp Physiol A 163:43-52. 1988
    ..Rather, response amplitude corresponded best with the absolute difference between shoulder and head motion...
  95. ncbi [Clinical evaluation after myocardial infarction. Its role, date and methods]
    J Machecourt
    Clinique Cardiologique et Urgences Cardiologiques, CHU, Grenoble
    Arch Mal Coeur Vaiss 85:789-98. 1992
    ..angiography is the only investigation which allows assessment of the coronary circulation and is probably the best method of evaluating global and regional left ventricular function, two essential prognostic factors: on the other ..
  96. pmc Three years clinical experience with intestinal transplantation
    K Abu-Elmagd
    Pittsburgh Transplant Institute, University of Pittsburgh Medical Center, PA 15213
    J Am Coll Surg 179:385-400. 1994
    ..By the end of this time, the best survival rate (86 percent) was with the multivisceral procedure...
  97. ncbi [Evaluation of a new method for antifungal drugs susceptibility testing to yeasts]
    S Ishigaki
    Department of Central Laboratory, Teikyo School of Medicine
    Kansenshogaku Zasshi 74:221-30. 2000
    ..However, the best agreement between the results for clinical isolates was seen with 5-FC (100% agreement [Within +/- 2 log2 dilutions]..
  98. ncbi Infantile scoliosis in Marfan syndrome
    P D Sponseller
    Department of Orthopaedic Surgery, Johns Hopkins University, Baltimore, Maryland, USA
    Spine (Phila Pa 1976) 22:509-16. 1997
    ..Instrumentation without fusion was used in three patients for a mean of 3 years, with best results in one nonkyphotic curve. Nine patients underwent instrumented fusion at a mean age of 6...
  99. ncbi [The best in 2000 on arrhythmia]
    J Y Le Heuzey
    Service de cardiologie, , 20, rue Leblanc, 75015 Paris
    Arch Mal Coeur Vaiss 94:21-6. 2001
    ....
  100. ncbi An investigation of ethnic differences in bone mineral, hip axis length, calcium metabolism and bone turnover between West African and Caucasian adults living in the United Kingdom
    B Dibba
    Medical Research Council Dunn Nutrition Unit, Cambridge, UK
    Ann Hum Biol 26:229-42. 1999
    ..Bone mineral content (BMC), bone mineral density (BMD) and BMC adjusted for bone area, body weight and height (size-adjusted BMC) were measured for the whole-body, ..

Research Grants74

  1. Salivary-based Bone-loss Marker Detection Platform for Point-of-Care Screening
    MANAL BESHAY; Fiscal Year: 2012
    ..Currently, the most reliable methods for bone mineral density (BMD) measurements are imaging techniques such as dual photon absorptiometry (DPA), quantitative computed tomography (..
  2. Epidemiologic Study of Bone Marrow Fat and Osteoporosis
    Jane Cauley; Fiscal Year: 2010
    ..knowledge, only a handful of studies have directly examined the connection between BMF and bone mineral density (BMD), and these studies have largely focused on Chinese men and women...
  3. Aging and Fracture Risk among HIV-infected and HIV-uninfected Men
    Todd T Brown; Fiscal Year: 2013
    ..in HIV-infected patients have relied on dual- energy x-ray absorptiometry (DXA) to evaluate bone mineral density (BMD). Although clinically useful, BMD accounts for only about 50% of fracture risk...
  4. Early effects of PTH on the proximal femur
    Felicia Cosman; Fiscal Year: 2013
    ..Teriparatide (TPTD), the aminoterminal fragment of parathyroid hormone, increases BMD and bone strength and reduces fracture incidence throughout the skeleton, but data confirming specific efficacy ..
  5. Rates and determinants of decreased bone health among HIV-infected patients
    Roger Bedimo; Fiscal Year: 2013
    ..For a given decrease in bone mineral density (BMD), the fracture risk increases dramatically with age in the general population...
  6. Clinical Validation of BCT - Phase II
    DAVID KOPPERDAHL; Fiscal Year: 2010
    ..Due to limitations in areal BMD measures obtained from 2D DXA scans - the current clinical standard for diagnosis of osteoporosis - it has recently ..
  7. Targeted Sequencing of 3 Loci Associated with BMD in the Framingham Osteoporosis
    Douglas P Kiel; Fiscal Year: 2012
    ..we have performed genome-wide association meta-analyses on bone phenotypes including bone mineral density (BMD) and osteoporotic fractures in adult Caucasian subjects1 Although more than 30 loci reached genome-wide ..
  8. Osteoporosis and Bone Augmentation/Implant Outcomes: An Observational Study
    Martin A Freilich; Fiscal Year: 2010
    ..The objective of this descriptive "best clinical practice" based study is to collect descriptive data estimating alveolar bone augmentation/implant ..
  9. HIV and Adiposity in Women: Effects on Bone Metabolism
    Anjali Sharma; Fiscal Year: 2013
    ..While there is evidence that increased marrow fat, like low bone mineral density (BMD), predicts vertebral fracture in the elderly, and data suggest a relationship between increased marrow adiposity ..
  10. Genome Wide Association Study of Bone Mineral Accretion During Childhood
    Babette S Zemel; Fiscal Year: 2013
    ..Most of what is known about childhood bone health is based on measures of bone mineral content (BMC) or density (BMD)...
  11. MRI-Based Assessment of Structural and Mechanical Implications of Osteoporosis
    Felix W Wehrli; Fiscal Year: 2013
    ..that structural measures of bone quality are more strongly associated with osteoporotic fractures than areal BMD and that these structural measures are sensitive indicators of drug intervention efficacy in patients with impaired ..
  12. A Study of Reduced Bone Quality as a Cause of Fractures
    Robert Roy Recker; Fiscal Year: 2012
    ..Controls will include 60 post-menopausal women with similar BMD and age who are not fracturing, do not have a history of low-trauma fracture and are healthy...
  13. A NEW SYSTEM FOR ULTRASONIC ASSESSMENT OF THE CALCANEUS
    Jonathan Kaufman; Fiscal Year: 2013
    ..device which in conjunction with CyberLogic's NTD technology to accurately and reproducibly estimate BMD at the calcaneus...
  14. IMPACT OF A PROTEIN SUPPLEMENT ON BONE MASS IN OLDER WOMEN
    KARL LEONARD INSOGNA; Fiscal Year: 2010
    ..Secondary outcomes will include BMD at the spine and hip measured by QCT, serum measures of mineral homeostasis and bone turnover, and an assessment of ..
  15. Clinical Implications of Serotonin in Bone
    Elizabeth M Haney; Fiscal Year: 2010
    ..and increase fracture risk in patients with depression as compared with those without depression suggest that BMD and depression are related...
  16. Effect of Adrenal and Gonadal Hormones on Bone Marrow and Appendicular BMD
    Catherine M Gordon; Fiscal Year: 2013
    ..investigate this question through a novel clinical trial of combined therapy with DHEA+ERT on bone mineral density (BMD) and bone marrow composition, examining the role of hormonal factors in the conversion of red to yellow marrow and ..
  17. Multi-view, Photon Counting DXA Scanner for Quantitative Musculoskeletal Imaging
    Thomas J Beck; Fiscal Year: 2011
    ..However DXA scanners are designed to measure bone mineral density (BMD) and not structural geometry...
  18. Bone Deficits and Excess Adiposity after Pediatric Bone Marrow Transplantation
    Sogol Mostoufi-Moab; Fiscal Year: 2013
    ..The applicant recently published the first comprehensive studies of trabecular bone mineral density (BMD), cortical structure, and body composition in 55 long-term survivors of childhood HSCT...
  19. Effect of Chronic Proton Pump Inhibitor Therapy on Bone Mineral Density and Bone
    Yu Xiao Yang; Fiscal Year: 2013
    ..both calcium malabsorption and vitamin B12 deficiency are associated with reduced bone mineral density (BMD) and increased osteoporotic fracture risk...
  20. New Approaches to the Evaluation and Treatment of Acromegaly
    Pamela U Freda; Fiscal Year: 2013
    ..Fractures are increased in acromegaly, but bone mineral density (BMD) is not reduced...
  21. The Effects of Iron Status on FGF23 Metabolism and Bone Health.
    Michael J Econs; Fiscal Year: 2012
    ..Iron deficiency has been reported to decrease BMD in animal models and in vitro studies have demonstrated that iron deficiency affects osteoblast function...
  22. Assessing and modifying bone quality in chronic kidney disease
    Chris Newman; Fiscal Year: 2013
    ..In patients with age-related bone loss, bone mineral density (BMD) estimates are a helpful predictor of fracture development. In CKD, however, the picture is unclear...
  23. The Effects of CFTR Dysfunction on Bone Formation
    Marie E Egan; Fiscal Year: 2012
    ..By clarifying the exact nature and evolution of the low BMD, and elucidating whether there is a primary defect in bone cell activity, more evidence-based intervention trials ..
  24. Dietary and serum phytoestrogens and women's health conditions in midlife
    Gail A Greendale; Fiscal Year: 2012
    ..dietary &serum measures of phytoestrogens and phytoestrogen metabolites and 4 outcomes: bone mineral density (BMD), vasomotor symptoms (VMS), urinary incontinence (UI) and cognitive performance...
  25. CHANGES IN SKELETAL MICROARCHITECTURE FOLLOWING RENAL TRANSPLANTATION
    MARY BETH LEONARD; Fiscal Year: 2011
    ..of studies of changes in bone mass following transplantation relied on DXA estimates of bone mineral density (BMD);however, DXA BMD does not distinguish between opposing disease effects on trabecular and cortical bone and does ..
  26. Long-term impact of primary hyperparathyroidism on bone density in the elderly
    Michael W Yeh; Fiscal Year: 2012
    ..Definitive findings provided the highly-powered analyses will guide future health care policy regarding best clinical practice in the management of PHPT.
  27. The Bone Trial of the Testosterone Trial
    Peter J Snyder; Fiscal Year: 2013
    ..and strength-to-density ratio in the spine and hip by finite element analysis determined from the QCT data;areal BMD of the lumbar spine, proximal hip and distal radius by DXA;serum markers of bone turnover;and clinical fractures...
  28. Bone health in perinatally HIV-infected South African children on antiretrovirals
    Michael T Yin; Fiscal Year: 2013
    ..applicant): While skeletal abnormalities, including decreased bone mineral content (BMC) and bone mineral density (BMD), are well described among HIV-infected children and adolescents in highly developed nations, no studies have been ..
  29. 3-D Visualization and Prediction of Spine Fractures
    Elise F Morgan; Fiscal Year: 2012
    ..Average measures of bone mineral density (BMD) explain only 50-70% of the variance in vertebral strength, a result that is not surprising given the heterogeneous ..
  30. Biomechanics of Vertebral Fractures: The Framingham QCT Study
    Mary L Bouxsein; Fiscal Year: 2013
    ..There is strong evidence that factors other than low bone mineral density (BMD) influence VF risk. Yet, the biomechanical factors that contribute to fractures are poorly understood...
  31. BONE DENSITY IN CHILDHOOD - CLINICAL CENTER
    Vincente Gilsanz; Fiscal Year: 2010
    ..These data will serve as an extremely valuable standard pediatric BMD database...
  32. BONE DENSITY IN CHILDHOOD STUDY - CLINICAL CENTER
    Margaret M Frederick; Fiscal Year: 2009
    ..These data will serve as an extremely valuable standard pediatric BMD database...
  33. A Novel Long-Lived 41Ca Marker To Assess Bone Turnover For Breast Cancer Patients
    Susanta Hui; Fiscal Year: 2009
    ..The currently much-used method of monitoring bone mineral density (BMD) is neither sensitive to small changes in bone density, nor suitable for frequent assesments of bone density...
  34. Clinical Validation of BCT
    DAVID KOPPERDAHL; Fiscal Year: 2007
    ..Due to limitations in areal BMD measures obtained from 2D DXA scans - which is the current clinical standard for diagnosis of osteoporosis - it has ..
  35. PROSPECTIVE STUDY OF OSTEOPOROSIS & RISK FACTORS IN JRA
    C Rabinovich; Fiscal Year: 2000
    ..derived from the course of skeletal development obtained through sequential measurements of bone mineral density (BMD)...
  36. GENETIC AND DYNAMIC ANALYSES OF PEAK BONE DENSITY IN MICE
    Leah Rae Donahue; Fiscal Year: 2009
    ..and determine cellular actions of genes on mouse Chromosomes (Chr) 1 and 4 that regulate bone mineral density (BMD)...
  37. Predicting Hip Fracture Using a Biomechanical Approach
    Marian T Hannan; Fiscal Year: 2013
    ..The most common tool for diagnosis of osteoporosis and prediction of fracture risk is bone mineral density (BMD) measured by dual- energy X-ray absorptiometry...
  38. IGF-1, bone turnover and response to teriparatide in premenopausal women with IOP
    Adi Cohen; Fiscal Year: 2013
    ..levels did not respond to teriparatide (TPTD), an osteo-anabolic medication that increases bone mineral density (BMD) by stimulating bone formation via IGF-1-dependant mechanisms...
  39. Effects of Gastric Bypass Surgery on Calcium Metabolism and the Skeleton
    ANNE LOUISE SCHAFER; Fiscal Year: 2013
    ..bypass can have negative effects on the skeleton, increasing bone turnover and decreasing bone mineral density (BMD). This is of critical concern given the tremendous impact of osteoporosis and fracture in both men and women...
  40. Genetic Determinants of Physiological Responses to Fluoride in Bone
    Eric T Everett; Fiscal Year: 2012
    ..Additionally, selected bones will be phenotyped for BMD (microCT). A genome scan with an average SNP density of 3 Mb across the autosomes and 7 Mb across Chr...
  41. Ginger Extracts in the Prevention of Metabolic Bone Disease
    LAURA ELIZABETH WRIGHT; Fiscal Year: 2011
    ..Endpoints of analysis include bone mineral density (BMD) by dual energy x-ray absorptometry (DXA), serum markers for bone turnover, bone histomorphometry, changes in ..
  42. Bone Microarchitecture: The Framingham Osteoporosis Study
    Douglas P Kiel; Fiscal Year: 2013
    ..We will measure volumetric BMD, bone microarchitecture and bone strength at the distal radius and distal tibia using three-dimensional HR-pQCT in ..
  43. Imaging evidence: Is there competition between marrow fat and bone?
    Wei Shen; Fiscal Year: 2010
    ..shown that there is an inverse relationship between bone marrow adipose tissue (BMAT) and bone mineral density (BMD)...
  44. Chronic Kidney Disease and PTH: Effects on the Postmenopausal Skeleton
    EMILY MARGARET STEIN; Fiscal Year: 2013
    ..We will use a cross-sectional, in-depth analysis of bone mineral density (BMD), microarchitecture, calciotropic hormones and biochemical markers of remodeling in women, with and without stage 3 ..
  45. Ultra-high Resolution pQCT as a Biomarker of Bone Strength in Osteoporosis Trials
    ELIZABETH J SHANE; Fiscal Year: 2010
    ..Measurement of bone mineral density (BMD) by dual energy x-ray absorptiometry (DXA) has important limitations in diagnosis of osteoporosis, prediction of ..
  46. Magnetic Resonance Imaging of Bound and Free Water in Cortical Bone
    Jiang Du; Fiscal Year: 2013
    ..Routine clinical evaluation of osteoporosis (OP) has been limited to the assessment of bone mineral density (BMD) using dual energy X-ray absorptiometry (DEXA) and/or CT...
  47. A Patient Activation Intervention to Enhance Bone Health
    Fredric D Wolinsky; Fiscal Year: 2013
    DESCRIPTION (provided by applicant): Bone mineral density (BMD) peaks in early adulthood and declines progressively with aging...
  48. Modeling fracture prediction in spinal cord injury and disease
    Laura D Carbone; Fiscal Year: 2013
    ..In this context, our working hypothesis is that clinical factors but not DXA-derived BMD will best predict fractures in persons with SCI/D. Our hypothesis will be examined in the following specific objectives...
  49. Mechanisms and Clinical Factors Associated with ART associated Bone Loss in HIV
    PHILIP MAGNUS GRANT; Fiscal Year: 2013
    ..will help define the underlying causes and appropriate clinical management of ART-associated bone mineral density (BMD) loss in HIV...
  50. Enhancing Bone Quality Assessment Using Quantitative Ultrasound
    JAMES GEGAN MILLER; Fiscal Year: 2012
    ..treatment is Dual Energy X-ray Absorptiometry (DEXA), which provides a measure of bone mineral density (BMD)...
  51. Effect of Intense Multi-Modal Training on Bone Mineral Density, Bone Biomarkers,
    Todd Anthony Astorino; Fiscal Year: 2013
    ..Consequently, the primary aim of this study is to examine changes in bone mineral density (BMD), bone health, body composition, and quality of life in response to a rigorous, multi-modal training program ..
  52. Repair of large osteoporotic rat calvarial defects with autologous adipose stem c
    Ming Pei; Fiscal Year: 2012
    DESCRIPTION (provided by applicant): Osteoporosis contributes to decreased bone mass and bone mineral density (BMD) as well as compromised fracture healing rates and bone repair quality...
  53. Tensor Scale-based Methods for Assessment of Trabecular Bone Quality
    PUNAM KUMAR SAHA; Fiscal Year: 2012
    ..Bone's mechanical competence can only be partly explained by variations in bone mineral density (BMD), which led to the notion of bone quality, chief among which is architecture as a determinant of TB strength...
  54. Identification of Proteins Important for Male Osteoporosis
    Hong Wen Deng; Fiscal Year: 2013
    ..Male Osteoporosis Osteoporosis is a major public health problem, mainly characterized by low bone mineral density (BMD). Variation of BMD is largely genetically determined (heritability of >60%)...
  55. VITamin D and OmegA-3 TriaL: Effects on Bone Structure and Architecture
    MERYL SUSAN LEBOFF; Fiscal Year: 2013
    ..data support a positive relationship between 25-hydroxyvitamin D [25(OH) D] levels and bone mineral density (BMD)...
  56. Novel Drug VS-105 for Treatment of Osteoporosis
    Jinshyun Ruth Wu-Wong; Fiscal Year: 2013
    ..better efficacy than calcitriol in stimulating anabolic bone formation and also in increasing bone mineral density (BMD) with less hypercalcemic side effects...
  57. Underserved Men's Understanding of Androgen Deprivation Therapy Related Risks
    Sally L Maliski; Fiscal Year: 2012
    ..symptoms, depression, fatigue, diminished health-related quality of life (HRQOL), decreased bone mineral density (BMD), sexual dysfunction, metabolic syndrome, increased fat mass, along with decreased lean muscle mass, increased ..
  58. Establishing the Precursors of Osteoporosis in Children
    Xiping Xu; Fiscal Year: 2010
    ..bone mass as measured by DEXA, including bone mineral content (BMC), bone area (BA) and bone mineral density (BMD) in relation to a wide range of putative precursors of osteoporosis...
  59. The Insulin/IGF-I Axis in Diabetic Osteopathy
    John L Fowlkes; Fiscal Year: 2013
    ..mellitus (T1D) is associated with several disorders of skeletal health, including decreased bone mineral density (BMD) and an increased risk for osteoporosis and fragility fracture...
  60. Role of Darc-Chemokine Interaction in the Trafficking of Osteoclast Precursors
    Bouchra Edderkaoui; Fiscal Year: 2012
    DESCRIPTION (provided by applicant): Osteoporosis is a disease characterized by low bone mineral density (BMD), the strongest predictor of fracture risk...
  61. Epidemiology of Bone Loss in African Men
    Joseph M Zmuda; Fiscal Year: 2013
    ..to continue our Tobago Bone Health Study (R01-AR049747), a unique population-based study of bone mineral density (BMD) in 2,424 black men aged e40 years...
  62. FT-IR Microscopy of Mineral Structure
    Adele L Boskey; Fiscal Year: 2013
    ..While reduced bone mineral density (BMD) relative to young individuals is routinely used clinically to predict fracture risk, BMD is not a strong predictor,..
  63. Joint Determinants of Bone Density and CVD Calcification
    Braxton Mitchell; Fiscal Year: 2004
    ..Recent studies document that bone mineral density (BMD) is inversely correlated with severity of aortic and coronary artery calcification, markers of atherosclerosis...
  64. Depo-provera & BMD: Continuing Observations
    M Clark; Fiscal Year: 2005
    ..The ongoing parent study is longitudinal, comparing changes in bone mineral density (BMD) every 3 months for 24 months between women newly initiating DMPA for contraception and women using no hormonal ..
  65. DEPO PROVERA AND BONE MINERAL DENSITY IN ADOLESCENTS
    Barbara Cromer; Fiscal Year: 2003
    ..Recent research in adults has suggested a negative effect of DMPA on bone mineral density (BMD)...
  66. GENETIC EPIDIMOLOGY OF OSTEOPOROSIS
    Xiping Xu; Fiscal Year: 2005
    ..Using peripheral DXA (pDXA) technology to measure proximal radial BMD, a strong predictor for osteoporosis, this proposed investigation will screen 15,000 sib pairs aged 40-64 years in ..
  67. Genomic Convergence for Female Osteoporosis Risk Genes
    Hong Wen Deng; Fiscal Year: 2012
    ..Osteoporosis is mainly characterized by low bone mineral density (BMD). In general, women have lower BMD and higher risk of osteoporosis than men...
  68. Activators of the Pyrophosphatase Activity of Alkaline Phosphatase
    Jose Luis Millan; Fiscal Year: 2007
    ..TNAP sufficiently high to be able to lower circulating PPi and OPN concentrations to enhance bone mineral density (BMD) in these animals...
  69. Cortical Bone Porosity Identifies Diabetes Subjects With Fragility Fractures
    Thomas M Link; Fiscal Year: 2010
    ..Bone mineral density (BMD) is currently the best-established bone biomarker to predict fracture risk in osteoporosis...
  70. BONE ESTROGEN STRENGTH TRAINING
    Timothy Lohman; Fiscal Year: 2000
    ..8 Billion in 1995 to $60 Billion by the year 2020. While the effects of dietary and hormonal interventions on BMD are being investigated in the Women's Health Initiative, the effects of exercise, a potentially effective stimulus ..
  71. HIP FRACTURE RISK PREDICTION BY QDR
    Wilson Hayes; Fiscal Year: 2000
    ..the previous funding period, the applicant demonstrated that strong associations between bone mineral density (BMD) and fracture load hold over a wide range of age and loading rates...
  72. LEAD EXPOSURE, GENETICS AND OSTEOPOROSIS EPIDEMIOLOGY
    Susan Korrick; Fiscal Year: 1999
    ..evaluation of three major hypotheses: (1) Lead exposure is associated with declines in bone mineral density (BMD) and increases in bone turnover (defined by serum osteocalcin and urinary cross-linked N telopeptide of type I ..
  73. LEAD EXPOSURE, GENETICS AND OSTEOPOROSIS EPIDEMIOLOGY
    Susan Korrick; Fiscal Year: 2002
    ..evaluation of three major hypotheses: (1) Lead exposure is associated with declines in bone mineral density (BMD) and increases in bone turnover (defined by serum osteocalcin and urinary cross-linked N telopeptide of type I ..
  74. X-Ray Scattering Bone Densitometry
    MIODRAG KRMAR; Fiscal Year: 2006
    ..A new diagnostic technique of measuring bone mineral density (BMD) for diagnosis and monitoring the course of treatment (assessment) of osteoporosis and other bone diseases is ..