Genomes and Genes
Gene Symbol: BEST1
Description: bestrophin 1
Alias: ARB, BEST, BMD, RP50, TU15B, VMD2, Best disease, Best1V1Delta2, bestrophin-1, vitelliform macular dystrophy protein 2
Publications232 found, 100 shown here
- Hemodilution as a method to reduce transfusion requirements in adolescent spine fusion surgeryL 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...
- [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...
- Best's vitelliform macular dystrophy caused by a new mutation (Val89Ala) in the VMD2 geneL Eksandh
Department of Ophthalmology, University Hospital, Lund, Sweden
Ophthalmic Genet 22:107-15. 2001To describe the clinical phenotype in a family with Best's vitelliform macular dystrophy (BMD) and a new mutation (Val89Ala) in the VMD2 gene.
- 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...
- Bestrophin, the product of the Best vitelliform macular dystrophy gene (VMD2), localizes to the basolateral plasma membrane of the retinal pigment epitheliumA 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...
- Systematic screening of BEST1 and PRPH2 in juvenile and adult vitelliform macular dystrophies: a rationale for molecular analysisIsabelle Meunier
Centre de Référence Maladies Sensorielles Génétiques, Hopital Gui de Chauliac, Montpellier, France
Ophthalmology 118:1130-6. 2011To 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), ..
- Interaction of bestrophin-1 and Ca2+ channel β-subunits: identification of new binding domains on the bestrophin-1 C-terminusVladimir 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...
- Bestrophins and retinopathiesQinghuan Xiao
Department of Cell Biology and Center for Neurodegenerative Disease, Emory University School of Medicine, Atlanta, GA 30322, USA
Pflugers Arch 460:559-69. 2010b>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 ..
- Dysregulation of human bestrophin-1 by ceramide-induced dephosphorylationQinghuan 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...
- A novel mutation in the VMD2 gene in an Italian family with Best maculopathyA Sodi
Department of Oto Neuro Ophthalmological Surgical Sciences, University of Florence, Italy
J Fr Ophtalmol 30:616-20. 2007Vitelliform 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...
- Functional characterization of bestrophin-1 missense mutations associated with autosomal recessive bestrophinopathyAlice 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 ..
- Ocular phenotypes associated with biallelic mutations in BEST1 in Italian patientsAndrea Sodi
Department of Specialized Surgical Sciences, Eye Clinic, University of Florence, Italy
Mol Vis 17:3078-87. 2011To report on the phenotype and the genotype of Italian patients carrying BEST1 mutations on both alleles.
- Mutation analysis of the VMD2 gene in thai families with best macular dystrophyLa ongsri Atchaneeyasakul
Department of Ophthalmology, Faculty of Medicine, Siriraj Hospital Mahidol University, Bangkok, Thailand
Ophthalmic Genet 29:139-44. 2008To identify genetic mutations of the VMD2 gene in two Thai families with Best macular dystrophy.
- A novel spontaneous missense mutation in VMD2 gene is a cause of a best macular dystrophy sporadic caseG Palomba
Istituto di Genetica Molecolare, CNR, Alghero, Italy
Am J Ophthalmol 129:260-2. 2000To report the molecular characterization of a novel VMD2 mutation causing a Best macular dystrophy sporadic case.
- Regulation of bestrophin Cl channels by calcium: role of the C terminusQinghuan 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+)...
- The spectrum of ocular phenotypes caused by mutations in the BEST1 geneCamiel J F Boon
Department of Ophthalmology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
Prog Retin Eye Res 28:187-205. 2009Bestrophin-1 is an integral membrane protein, encoded by the BEST1 gene, which is located in the basolateral membrane of the retinal pigment epithelium...
- A homozygous frameshift mutation in BEST1 causes the classical form of Best disease in an autosomal recessive modeHanna Bitner
Department of Ophthalmology, Hadassah Hebrew University Medical Center, Jerusalem, Israel
Invest Ophthalmol Vis Sci 52:5332-8. 2011b>Best disease is a monogenic macular degeneration caused mainly by heterozygous mutations in the BEST1 gene...
- Variant phenotype of Best vitelliform macular dystrophy associated with compound heterozygous mutations in VMD2Patrik Schatz
Department of Ophthalmology, Lund University Hospital, Lund, Sweden
Ophthalmic Genet 27:51-6. 2006To characterize the phenotype of members of a Swedish family with Best macular dystrophy and two distinct mutations in VMD2.
- Phenotypic variability in a French family with a novel mutation in the BEST1 gene causing multifocal best vitelliform macular dystrophyEmmanuelle Lacassagne
Universite Paris Descartes, Faculté de Médecine Paris Descartes site Necker, CERTO, Paris, France
Mol Vis 17:309-22. 2011To describe genetic and clinical findings in a French family affected by best vitelliform macular dystrophy (BVMD).
- A synonymous codon variant in two patients with autosomal recessive bestrophinopathy alters in vitro splicing of BEST1Alice 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...
- VMD2 mutations in vitelliform macular dystrophy (Best disease) and other maculopathiesK White
Institut fur Humangenetik, Universitat Wurzburg, Wurzburg, Germany
Hum Mutat 15:301-8. 2000Mutations in the gene VMD2 are associated with autosomal dominant vitelliform macular dystrophy (Best disease)...
- Functional and clinical data of Best vitelliform macular dystrophy patients with mutations in the BEST1 geneGiuseppe Querques
Department of Ophthalmology, Hopital Intercommunal de Creteil, University Paris XII, Paris, France
Mol Vis 15:2960-72. 2009To analyze functional and clinical data of Best vitelliform macular dystrophy (VMD) patients with mutations in the BEST1 gene.
- The bestrophin mutation A243V, linked to adult-onset vitelliform macular dystrophy, impairs its chloride channel functionKuai 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. 2006It 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-..
- Bestrophin gene mutations in patients with Best vitelliform macular dystrophyG M Caldwell
Department of Cancer Genetics, Roswell Park Cancer Institute, 666 Elm Street, Buffalo, New York 14263, USA
Genomics 58:98-101. 1999Best 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...
- Morphological and functional changes in multifocal vitelliform retinopathy and biallelic mutations in BEST1Elisabeth Wittström
Department of Ophthalmology, Lund University, Sweden
Ophthalmic Genet 32:83-96. 2011To describe morphological and functional changes in a single patient with multifocal Best vitelliform macular dystrophy (BVMD) and to perform a genotype/phenotype correlation.
- BEST1-related autosomal dominant vitreoretinochoroidopathy: a degenerative disease with a range of developmental ocular anomaliesA Vincent
Department of Ophthalmology and Vision Sciences, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada
Eye (Lond) 25:113-8. 2011To describe the spectrum of phenotypic characteristics of BEST1-related autosomal dominant vitreoretinochoroidopathy (ADVIRC) in a family with p.V86M mutation.
- Evaluation of macular structure and function by OCT and electrophysiology in patients with vitelliform macular dystrophy due to mutations in BEST1Patrik Schatz
Department of Ophthalmology, Glostrup Hospital, University of Copenhagen, Glostrup, Denmark
Invest Ophthalmol Vis Sci 51:4754-65. 2010To analyze retinal structure and function in vitelliform macular dystrophy (VMD) due to mutations in BEST1.
- Eag1 and Bestrophin 1 are up-regulated in fast-growing colonic cancer cellsMelanie 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...
- Missense mutations in a retinal pigment epithelium protein, bestrophin-1, cause retinitis pigmentosaAlice 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 ..
- 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. 1998Vitelliform 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...
- 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 degenerationF 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...
- Novel and homozygous BEST1 mutations in Chinese patients with Best vitelliform macular dystrophyRaymond L M Wong
Department of Ophthalmology and Visual Sciences, Chinese University of Hong Kong, Kowloon, Hong Kong SAR, China
Retina 30:820-7. 2010The purpose of this study was to investigate the BEST1 gene mutations in Chinese patients with Best vitelliform macular dystrophy (BVMD).
- Phenotypic variability due to a novel Glu292Lys variation in exon 8 of the BEST1 gene causing best macular dystrophyElliott 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. 2009To study the phenotypic characteristics of patients with a novel p.E292K mutation in BEST1.
- Autosomal recessive best vitelliform macular dystrophy: report of a family and management of early-onset neovascular complicationsAlessandro 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. 2011To 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 ..
- Identification of novel VMD2 gene mutations in patients with best vitelliform macular dystrophyD 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. 2001ABSTRACT 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...
- Functional roles of bestrophins in ocular epitheliaAlan 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...
- 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...
- Clinical and genetic heterogeneity in multifocal vitelliform dystrophyCamiel 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...
- Autosomal recessive vitelliform macular dystrophy in a large cohort of vitelliform macular dystrophy patientsTyson 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...
- Human disease-causing mutations disrupt an N-C-terminal interaction and channel function of bestrophin 1Zhiqiang Qu
Department of Cell Biology, Emory University School of Medicine, Atlanta, Georgia 30322, USA
J Biol Chem 284:16473-81. 2009Mutations in the human bestrophin 1 (hBest1) chloride channel cause Best vitelliform macular dystrophy...
- Allelic variation in the VMD2 gene in best disease and age-related macular degenerationA J Lotery
Department of Ophthalmology, The University of Iowa College of Medicine, Iowa City 52242, USA
Invest Ophthalmol Vis Sci 41:1291-6. 2000To assess the allelic variation of the VMD2 gene in patients with Best disease and age-related macular degeneration (AMD).
- Hereditary maculardegeneration (HMD) in 246 cases traced to one gene-source in central SwedenS Nordstrom
Hereditas 84:163-76. 1977
- Evaluation of the Best disease gene in patients with age-related macular degeneration and other maculopathiesR 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. 1999Vitelliform 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); ..
- The role of bestrophin in airway epithelial ion transportValentin 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...
- The anion-selective pore of the bestrophins, a family of chloride channels associated with retinal degenerationZhiqiang Qu
Department of Cell Biology, Center for Neurodegenerative Disease, Emory University School of Medicine, Atlanta, Georgia 30322, USA
J Neurosci 26:5411-9. 2006Mutations in human bestrophin-1 (VMD2) are genetically linked to a juvenile form of macular degeneration and autosomal dominant vitreoretinochoroidopathy...
- 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. 2008Bestrophin-1 (Best1) is a Cl(-) channel that is linked to various retinopathies in both humans and dogs...
- Structure-function analysis of the bestrophin family of anion channelsTakashi 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...
- Three novel human VMD2-like genes are members of the evolutionary highly conserved RFP-TM familyHeidi 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...
- Insertion and topology of normal and mutant bestrophin-1 in the endoplasmic reticulum membraneVladimir M Milenkovic
Institute of Physiology, University of Regensburg, Franz Josef Strauss Allee 11, D 93053 Regensburg, Germany
J Biol Chem 282:1313-21. 2007The vitelliform macular dystrophy type 2 (VMD2) gene mutated in Best macular dystrophy encodes a 585-amino acid putative transmembrane protein termed bestrophin-1...
- A gene map of the Best's vitelliform macular dystrophy region in chromosome 11q12-q13.1H Stohr
Institute of Human Genetics, University of Wurzburg, Germany
Genome Res 8:48-56. 1998b>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...
- Biallelic mutation of BEST1 causes a distinct retinopathy in humansRosemary 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 ..
- Differential macular and peripheral expression of bestrophin in human eyes and its implication for best diseaseRobert 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. 2007b>Best disease, or vitelliform macular degeneration, is an autosomal dominant form of macular degeneration that is caused by mutations in the gene encoding bestrophin...
- The mutation spectrum of the bestrophin protein--functional implicationsB Bakall
Department of Genetics and Pathology, University Hospital, Uppsala, Sweden
Hum Genet 104:383-9. 1999Best'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...
- Late onset is common in best macular dystrophy associated with VMD2 gene mutationsAgnes B Renner
Augenklinik, Charite Campus Benjamin Franklin, Universitatsmedizin Berlin, Berlin, Germany
Ophthalmology 112:586-92. 2005To perform a detailed morphologic and functional evaluation of Best macular dystrophy (BMD) associated with mutations in the VMD2 gene.
- The vitelliform macular dystrophy protein defines a new family of chloride channelsHui 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. 2002Vitelliform 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 ..
- Bestrophin-1 enables Ca2+-activated Cl- conductance in epitheliaRene 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...
- Genetic linkage of vitelliform macular degeneration (Best's disease) to chromosome 11q13E M Stone
Department of Ophthalmology, University of Iowa, College of Medicine, Iowa City 52242
Nat Genet 1:246-50. 1992Macular 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 ..
- Identification of the gene responsible for Best macular dystrophyK Petrukhin
Department of Human Genetics, Merck Research Laboratories, West Point, Pennsylvania 19486, USA
Nat Genet 19:241-7. 1998Best 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 ..
- Genotype-phenotype correlation and longitudinal course in ten families with Best vitelliform macular dystrophyB 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)...
- New VMD2 gene mutations identified in patients affected by Best vitelliform macular dystrophyD 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. 2007The 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...
- Clinical and molecular genetic analysis of best vitelliform macular dystrophyCamiel J F Boon
Department of Ophthalmology, Radboud University Nijmegen Medical Centre, The Netherlands
Retina 29:835-47. 2009To describe the phenotype of Best vitelliform macular dystrophy (BVMD) and to evaluate genotype-phenotype and histopathologic correlations.
- 1995 Volvo Award in clinical sciences. The diagnostic accuracy of magnetic resonance imaging, work perception, and psychosocial factors in identifying symptomatic disc herniationsN 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 ..
- Basic and therapeutic trial results obtained in the spontaneous AK leukemia (lymphoma) model-end of 1971H 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 ..
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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)...
- [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 ..
- [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...
- A longitudinal study of the perimenopausal transition: altered profiles of steroid and pituitary hormones, SHBG and bone mineral densityG 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...
- 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 ..
- Exfoliation syndrome and exfoliation glaucomaE 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...
- Capacity of the clinical picture to characterize low back pain relieved by facet joint anesthesia. Proposed criteria to identify patients with painful facet jointsM 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...
- [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...
- A systematic overview of chemotherapy effects in gastric cancerK 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...
- Multinucleated giant stromal tumor of the omentum: report of a case with immunohistochemical and ultrastructural investigationK 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...
- Institutional change. Experiences in two departmentsH J Humphrey
Department of Medicine, University of Chicago, IL, USA
J Gen Intern Med 12:S79-82. 1997Though 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...
- [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...
- Characteristics and causes of penetrating eye injuries reported to the National Eye Trauma System Registry, 1985-91L 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...
- Between two wars. Psychoanalysis in Europe, 1918-1938S 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...
- Interrupting the renin-angiotensin system: the role of angiotensin-converting enzyme inhibitors and angiotensin II receptor antagonists in the treatment of hypertensionM 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 ..
- Video-assisted lateral intertransverse process arthrodesis. Validation of a new minimally invasive lumbar spinal fusion technique in the rabbit and nonhuman primate (rhesus) modelsS 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...
- 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...
- Compression of the upper cervical spinal cord causing symptoms of brainstem compromise. A case reportW 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...
- Testosterone enhances estradiol's effects on postmenopausal bone density and sexualityS 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...
- Bone mineral density is inversely related to parathyroid hormone in adolescent girlsD 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...
- Biomechanics of vibration reception in the bullfrog, Rana catesbeianaT 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...
- Three years clinical experience with intestinal transplantationK 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...
- [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 ..
- Infantile scoliosis in Marfan syndromeP 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...
- [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]..
- [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....
- 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 KingdomB 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, ..
- In vivo and in vitro evidence of altered nitric oxide metabolism in the spontaneously diabetic, insulin-dependent BB/Edinburgh ratR M Lindsay
Metabolic Unit, Western General Hospitals NHS Trust, Edinburgh
Br J Pharmacol 120:1-6. 1997..in mesenteric arterial bed preparations from spontaneously diabetic, insulin-dependent and treated BB rats, the best animal model of insulin-dependent mellitus (IDDM) currently available...
- Training, experience and interest of general practitioners in travel medicine in New ZealandP A Leggat
School of Public Health and Tropical Medicine, James Cook University, Townsville, Queensland, Australia
J Travel Med 6:60-5. 1999..in travel medicine or related areas, interest in undertaking training in travel medicine and how training might be best delivered...
- Gastric non-Hodgkin's lymphoma: analysis of 252 patients from a multicenter studyL Salvagno
Divisione di Oncologia Medica, Centro Oncologico Regionale, Padua
Tumori 85:113-21. 1999..most common site of primary extranodal non-Hodgkin's lymphoma (NHL) and no agreement has been reached so far on the best therapeutic approach...
- [Long-term results after surgery of coarctation of the aorta in neonates and children]S Di Filippo
Service de Cardiologie C, , Lyon-Montchat
Arch Mal Coeur Vaiss 90:1723-8. 1997..prostaglandin E1 have considerably reduced the immediate mortality by enabling surgery to be undertaken under the best possible haemodynamic conditions...
- A systematic overview of chemotherapy effects in Hodgkin's diseaseL Brandt
Department of Oncology, University Hospital, Lund, Sweden
Acta Oncol 40:185-97. 2001..Several chemotherapy regimens containing four to eight drugs are effective in HD. The best regimen considering both antitumour activity and acute and late side-effects is not known...
- [The best in 2000 on arterial hypertension]H Milon
Service de cardiologie, , 103, Grande-Rue de la Croix-Rousse 69317 Lyon
Arch Mal Coeur Vaiss 94:7-12. 2001....
- [Hypertension--heart rate and cardiovascular risk]A Benetos
INSERM U337, 15, rue de l Ecole de Medecine, 75006 Paris
Arch Mal Coeur Vaiss 93:1371-6. 2000..The best known of these, the Framingham study, showed that an increased heart rate was associated with an increased ..
- A review of myelofibrosis in dogsW J Reagan
Purdue University, School of Veterinary Medicine, Department of Pathobiology, West Lafayette, Indiana 47907 1027
Toxicol Pathol 21:164-9. 1993..The proliferation of the bone marrow fibroblasts is not clonal in origin. To the best of this author's knowledge, this type of myelofibrosis has not been reported to occur naturally in the dog...
- A comparison between methods of identification and serotyping of encapsulated strains of Haemophilus influenzaeI S Taubitz
Zentralbl Bakteriol Mikrobiol Hyg A 270:83-97. 1988..With most methods best results were achieved by using cultures incubated at 37 degrees C for 6 h...
- [Possibilities of palliation in pancreatic cancer]F Di Costanzo
Dipartimento di Medicina Interna ed Oncologia, Azienda Ospedaliera Santa Maria, Terni, Italia
Tumori 85:S47-53. 1999..When chemotherapy was compared to best supportive care (BSC), the results demonstrated a survival gain...
- Joint Determinants of Bone Density and CVD CalcificationBraxton 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...
- A Novel Long-Lived 41Ca Marker To Assess Bone Turnover For Breast Cancer PatientsSusanta 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...
- Clinical Validation of BCT - Phase IIDAVID 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 ..
- Clinical Validation of BCTDAVID 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 ..
- Depo-provera & BMD: Continuing ObservationsM 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 ..
- DEPO PROVERA AND BONE MINERAL DENSITY IN ADOLESCENTSBarbara Cromer; Fiscal Year: 2003..Recent research in adults has suggested a negative effect of DMPA on bone mineral density (BMD)...
- PROSPECTIVE STUDY OF OSTEOPOROSIS & RISK FACTORS IN JRAC Rabinovich; Fiscal Year: 2000..derived from the course of skeletal development obtained through sequential measurements of bone mineral density (BMD)...
- GENETIC AND DYNAMIC ANALYSES OF PEAK BONE DENSITY IN MICELeah Rae Donahue; Fiscal Year: 2009..and determine cellular actions of genes on mouse Chromosomes (Chr) 1 and 4 that regulate bone mineral density (BMD)...
- 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)...
- Establishing the Precursors of Osteoporosis in ChildrenXiping 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...
- GENETIC EPIDIMOLOGY OF OSTEOPOROSISXiping 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 ..
- Genomic Convergence for Female Osteoporosis Risk GenesHong 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...
- Activators of the Pyrophosphatase Activity of Alkaline PhosphataseJose 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...
- Cortical Bone Porosity Identifies Diabetes Subjects With Fragility FracturesThomas M Link; Fiscal Year: 2010..Bone mineral density (BMD) is currently the best-established bone biomarker to predict fracture risk in osteoporosis...
- BONE ESTROGEN STRENGTH TRAININGTimothy 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 ..
- HIP FRACTURE RISK PREDICTION BY QDRWilson 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...
- X-Ray Scattering Bone DensitometryMIODRAG 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 ..
- LEAD EXPOSURE, GENETICS AND OSTEOPOROSIS EPIDEMIOLOGYSusan 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 ..
- LEAD EXPOSURE, GENETICS AND OSTEOPOROSIS EPIDEMIOLOGYSusan 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 ..