William R Wilcox

Summary

Affiliation: Cedars-Sinai Medical Center
Country: USA

Publications

  1. ncbi request reprint Bisindolylmaleimide I suppresses fibroblast growth factor-mediated activation of Erk MAP kinase in chondrocytes by preventing Shp2 association with the Frs2 and Gab1 adaptor proteins
    Pavel Krejci
    Medical Genetics Institute, Cedars Sinai Medical Center, Los Angeles, California 90048, USA
    J Biol Chem 282:2929-36. 2007
  2. ncbi request reprint Females with Fabry disease frequently have major organ involvement: lessons from the Fabry Registry
    William R Wilcox
    Medical Genetics Institute, Cedars Sinai Medical Center, 8700 Beverly Blvd SSB, Los Angeles, CA 90048, USA
    Mol Genet Metab 93:112-28. 2008
  3. ncbi request reprint Lysosomal storage disorders: the need for better pediatric recognition and comprehensive care
    William R Wilcox
    Division of Medical Genetics, Cedars Sinai Medical Center, Los Angeles, California 90048, USA
    J Pediatr 144:S3-14. 2004
  4. pmc BMPER mutation in diaphanospondylodysostosis identified by ancestral autozygosity mapping and targeted high-throughput sequencing
    Vincent A Funari
    Medical Genetics Institute, Cedars Sinai Medical Center, Los Angeles, CA 90048, USA
    Am J Hum Genet 87:532-7. 2010
  5. ncbi request reprint Improvement in serial cardiopulmonary exercise testing following enzyme replacement therapy in Fabry disease
    Gregory Bierer
    Division of Pulmonary Critical Care Medicine, Cedars Sinai Medical Center and UCLA School of Medicine, Los Angeles, California, USA
    J Inherit Metab Dis 29:572-9. 2006
  6. doi request reprint Anti-α-galactosidase A antibody response to agalsidase beta treatment: data from the Fabry Registry
    William R Wilcox
    Medical Genetics Institute, Cedars Sinai Medical Center, Los Angeles, CA 90048, USA
    Mol Genet Metab 105:443-9. 2012
  7. pmc NF449 is a novel inhibitor of fibroblast growth factor receptor 3 (FGFR3) signaling active in chondrocytes and multiple myeloma cells
    Pavel Krejci
    Medical Genetics Institute, Cedars Sinai Medical Center, Los Angeles, CA 90048, USA
    J Biol Chem 285:20644-53. 2010
  8. ncbi request reprint C-natriuretic peptide: an important regulator of cartilage
    Katerina Pejchalova
    Medical Genetics Institute, Cedars Sinai Medical Center, 8700 Beverly Blvd, SSB 3, Los Angeles, CA 90048, USA
    Mol Genet Metab 92:210-5. 2007
  9. ncbi request reprint Fibroblast growth factors 1, 2, 17, and 19 are the predominant FGF ligands expressed in human fetal growth plate cartilage
    Pavel Krejci
    Medical Genetics Institute, Cedars Sinai Medical Center, Los Angeles, California 90048, USA
    Pediatr Res 61:267-72. 2007
  10. ncbi request reprint Heterozygous Fabry women are not just carriers, but have a significant burden of disease and impaired quality of life
    Raymond Y Wang
    Medical Genetics Institute, Department of Pediatrics, Cedars Sinai Medical Center, UCLA School of Medicine, Los Angeles, California 90048, USA
    Genet Med 9:34-45. 2007

Collaborators

Detail Information

Publications39

  1. ncbi request reprint Bisindolylmaleimide I suppresses fibroblast growth factor-mediated activation of Erk MAP kinase in chondrocytes by preventing Shp2 association with the Frs2 and Gab1 adaptor proteins
    Pavel Krejci
    Medical Genetics Institute, Cedars Sinai Medical Center, Los Angeles, California 90048, USA
    J Biol Chem 282:2929-36. 2007
    ..Moreover, treatment with PKClambda/zeta pseudosubstrate lead to significant reduction of FGF2-mediated activation of Erk, suggesting involvement of an atypical PKC...
  2. ncbi request reprint Females with Fabry disease frequently have major organ involvement: lessons from the Fabry Registry
    William R Wilcox
    Medical Genetics Institute, Cedars Sinai Medical Center, 8700 Beverly Blvd SSB, Los Angeles, CA 90048, USA
    Mol Genet Metab 93:112-28. 2008
    ..Thus, females with FD have a significant risk for major organ involvement and decreased QoL. Females should be regularly monitored for signs and symptoms of FD, and considered for enzyme replacement therapy...
  3. ncbi request reprint Lysosomal storage disorders: the need for better pediatric recognition and comprehensive care
    William R Wilcox
    Division of Medical Genetics, Cedars Sinai Medical Center, Los Angeles, California 90048, USA
    J Pediatr 144:S3-14. 2004
  4. pmc BMPER mutation in diaphanospondylodysostosis identified by ancestral autozygosity mapping and targeted high-throughput sequencing
    Vincent A Funari
    Medical Genetics Institute, Cedars Sinai Medical Center, Los Angeles, CA 90048, USA
    Am J Hum Genet 87:532-7. 2010
    ..Phenotypic similarities between DSD and Bmper null mice indicate that BMPER-mediated signaling plays an essential role in vertebral segmentation early in human development...
  5. ncbi request reprint Improvement in serial cardiopulmonary exercise testing following enzyme replacement therapy in Fabry disease
    Gregory Bierer
    Division of Pulmonary Critical Care Medicine, Cedars Sinai Medical Center and UCLA School of Medicine, Los Angeles, California, USA
    J Inherit Metab Dis 29:572-9. 2006
    ..GOALS OF STUDY: To assess baseline cardiopulmonary exercise characteristics in both invasive and noninvasive tests and to study the impact of ERT on exercise...
  6. doi request reprint Anti-α-galactosidase A antibody response to agalsidase beta treatment: data from the Fabry Registry
    William R Wilcox
    Medical Genetics Institute, Cedars Sinai Medical Center, Los Angeles, CA 90048, USA
    Mol Genet Metab 105:443-9. 2012
    ..Nine percent of seronegative men and women (34 of 375) reported IARs. The majority of IARs occurred during the first 6 to 12 months of agalsidase beta treatment and decreased over time, in both seroconverted and seronegative patients...
  7. pmc NF449 is a novel inhibitor of fibroblast growth factor receptor 3 (FGFR3) signaling active in chondrocytes and multiple myeloma cells
    Pavel Krejci
    Medical Genetics Institute, Cedars Sinai Medical Center, Los Angeles, CA 90048, USA
    J Biol Chem 285:20644-53. 2010
    ..Our data identify NF449 as a novel antagonist of FGFR3 signaling, useful for FGFR3 inhibition alone or in combination with inhibitors that target the ATP binding site...
  8. ncbi request reprint C-natriuretic peptide: an important regulator of cartilage
    Katerina Pejchalova
    Medical Genetics Institute, Cedars Sinai Medical Center, 8700 Beverly Blvd, SSB 3, Los Angeles, CA 90048, USA
    Mol Genet Metab 92:210-5. 2007
    ..This review summarizes our current knowledge about the mechanism of CNP signaling in cartilage, areas for future investigation and its potential therapeutic uses...
  9. ncbi request reprint Fibroblast growth factors 1, 2, 17, and 19 are the predominant FGF ligands expressed in human fetal growth plate cartilage
    Pavel Krejci
    Medical Genetics Institute, Cedars Sinai Medical Center, Los Angeles, California 90048, USA
    Pediatr Res 61:267-72. 2007
    ..We conclude that FGF1, 2, 17, and 19 are the predominant FGF ligands present in developing human cartilage that are, with the exception of FGF19, experimentally capable of inhibiting chondrocyte proliferation...
  10. ncbi request reprint Heterozygous Fabry women are not just carriers, but have a significant burden of disease and impaired quality of life
    Raymond Y Wang
    Medical Genetics Institute, Department of Pediatrics, Cedars Sinai Medical Center, UCLA School of Medicine, Los Angeles, California 90048, USA
    Genet Med 9:34-45. 2007
    ..To determine if there is significant symptomatology in women with heterozygous alpha-galactosidase mutations...
  11. pmc Receptor tyrosine kinases activate canonical WNT/β-catenin signaling via MAP kinase/LRP6 pathway and direct β-catenin phosphorylation
    Pavel Krejci
    Medical Genetics Institute, Cedars Sinai Medical Center, Los Angeles, California, United States of America
    PLoS ONE 7:e35826. 2012
    ..We conclude that signaling via ERK/LRP6 pathway and direct β-catenin phosphorylation at Tyr142 represent two mechanisms used by various receptor tyrosine kinase systems to activate canonical WNT signaling...
  12. pmc Long-term safety and efficacy of enzyme replacement therapy for Fabry disease
    William R Wilcox
    Cedars Sinai Burns and Allen Research Institute and UCLA School of Medicine, Los Angeles, CA, USA
    Am J Hum Genet 75:65-74. 2004
    ..Thus, enzyme replacement therapy for 30-36 mo with agalsidase beta resulted in continuously decreased plasma GL-3 levels, sustained endothelial GL-3 clearance, stable kidney function, and a favorable safety profile...
  13. ncbi request reprint Simple, mammalian cell-based assay for identification of inhibitors of the Erk MAP kinase pathway
    Pavel Krejci
    Medical Genetics Institute, Cedars Sinai Medical Center, SSB 3, 8700 Beverly Blvd, Los Angeles, CA 90048, USA
    Invest New Drugs 25:391-5. 2007
    ..A major advantage of this system is exclusion of toxic compounds as false-positive hits, given the nature of the RCS response to inhibition of the Erk pathway, i.e. growth...
  14. pmc Evaluation of prenatal-onset osteochondrodysplasias by ultrasonography: a retrospective and prospective analysis
    Deborah Krakow
    Medical Genetics Institute, Cedars Sinai Medical Center, David Geffen School of Medicine at UCLA, Los Angeles, California 90048, USA
    Am J Med Genet A 146:1917-24. 2008
    ....
  15. pmc Bent bone dysplasia-FGFR2 type, a distinct skeletal disorder, has deficient canonical FGF signaling
    Amy E Merrill
    Department of Orthopedic Surgery, David Geffen School of Medicine, University of California, Los Angeles, 90048, USA
    Am J Hum Genet 90:550-7. 2012
    ..All together, these clinical and molecular findings are separate from previously characterized FGFR2 disorders and represent a distinct skeletal dysplasia...
  16. ncbi request reprint Interaction of fibroblast growth factor and C-natriuretic peptide signaling in regulation of chondrocyte proliferation and extracellular matrix homeostasis
    Pavel Krejci
    Medical Genetics Institute, Cedars Sinai Medical Center, Los Angeles, CA 90048, USA
    J Cell Sci 118:5089-100. 2005
    ..We conclude that CNP utilizes both direct and indirect ways to counteract the effects of FGF signaling in a chondrocyte environment...
  17. pmc Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia
    Matthew J Rock
    Medical Genetics Institute, Cedars Sinai Medical Center, Los Angeles, California 90048, USA
    Nat Genet 40:999-1003. 2008
    ..This study thus defines a previously unknown mechanism, activation of a calcium-permeable TRP ion channel, in skeletal dysplasia pathogenesis...
  18. doi request reprint Ehlers-Danlos type VIII, periodontitis-type: further delineation of the syndrome in a four-generation pedigree
    Eyal Reinstein
    Medical Genetics Institute, Cedars Sinai Medical Center, Los Angeles, California, USA
    Am J Med Genet A 155:742-7. 2011
    ..This pedigree is not linked to the previously reported region, confirming genetic locus heterogeneity in EDS type VIII...
  19. pmc Analysis of STAT1 activation by six FGFR3 mutants associated with skeletal dysplasia undermines dominant role of STAT1 in FGFR3 signaling in cartilage
    Pavel Krejci
    Department of Animal Physiology and Immunology, Institute of Experimental Biology, Masaryk University, Brno, Czech Republic
    PLoS ONE 3:e3961. 2008
    ..Other pathways such as ERK should therefore be considered as central to pathological FGFR3 signaling in cartilage...
  20. ncbi request reprint Diaphanospondylodysostosis: six new cases and exclusion of the candidate genes, PAX1 and MEOX1
    Nithiwat Vatanavicharn
    Medical Genetics Institute, Cedars Sinai Medical Center, Los Angeles, California, USA
    Am J Med Genet A 143:2292-302. 2007
    ..No mutations were identified in the PAX1 and MEOX1 exons or flanking intronic sequences, excluding them as likely causative genes...
  21. ncbi request reprint Spondylo-mega-epiphyseal dysplasia with prominent upper limb mesomelia, punctate calcifications, and deafness
    Vishal K Agarwal
    UCLA School of Medicine, Los Angeles, California, USA
    Am J Med Genet A 136:233-41. 2005
    ..We compare this case to the other reported forms of skeletal dysplasias, particularly the mesomelic, acromesomelic, and mega-epiphyseal disorders...
  22. ncbi request reprint Marked phenotypic variability in progressive diaphyseal dysplasia (Camurati-Engelmann disease): report of a four-generation pedigree, identification of a mutation in TGFB1, and review
    Stephanie E Wallace
    Medical Genetics Institute, Steven Spielberg Pediatric Research Center, Cedars Sinai Medical Center, Los Angeles, California 90048, USA
    Am J Med Genet A 129:235-47. 2004
    ..Cranial involvement, which occurs in 61% of patients, can be severe, entrapping cranial nerves or causing increased intracranial pressure. Therapy with corticosteroids should be attempted in all symptomatic patients...
  23. ncbi request reprint Fabry disease in a renal allograft
    Dechu P Puliyanda
    Center for Kidney Diseases, Department of Renal Pathology, Division of Medical Genetics, UCLA School of Medicine, Cedars Sinai Medical Center, Los Angeles, CA, USA
    Am J Transplant 3:1030-2. 2003
    ..Two years post-transplant the patient continues to have non-nephrotic range proteinuria with normal serum creatinine...
  24. pmc Fibrochondrogenesis results from mutations in the COL11A1 type XI collagen gene
    Stuart W Tompson
    Medical Genetics Institute, Cedars Sinai Medical Center, Los Angeles, CA 90048, USA
    Am J Hum Genet 87:708-12. 2010
    ..These findings identify COL11A1 as a locus for fibrochondrogenesis and indicate that there might be phenotypic manifestations among carriers...
  25. ncbi request reprint Distinguishing Pacman dysplasia from mucolipidosis II: comment on Saul et al. [2005]
    William R Wilcox
    Medical Genetics Institute, Cedars Sinai Medical Center, Los Angeles, California 90048, USA
    Am J Med Genet A 135:333. 2005
  26. ncbi request reprint FGF2 inhibits proliferation and alters the cartilage-like phenotype of RCS cells
    Pavel Krejci
    Steven Spielberg Pediatric Research Center, Burns and Allen Research Institute, Cedars Sinai Medical Center, Los Angeles, CA 90048, USA
    Exp Cell Res 297:152-64. 2004
    ..Both p21(WAF1) and p27(Kip1) accumulated upon FGF2 treatment, but this accumulation occurred at the protein level at least partially due to interaction with transcriptionally induced cyclin D1...
  27. ncbi request reprint Cardiopulmonary exercise testing in Fabry disease
    Gregory Bierer
    Division of Pulmonary Critical Care Medicine, Cedars Sinai Medical Center, Los Angeles, CA 90048, USA
    Respiration 72:504-11. 2005
    ..Early manifestations include angiokeratomas, acroparesthesias, and hypohidrosis and may progress to renal failure, cardiac dysfunction, and stroke. Patients exhibit decreased exercise tolerance and often complain of fatigue...
  28. ncbi request reprint Dynamic cervicomedullary cord compression and alterations in cerebrospinal fluid dynamics in children with achondroplasia. Report of four cases
    Moise Danielpour
    Department of Neurosurgery, Cedars Sinai Medical Center, Los Angeles, California 90048, USA
    J Neurosurg 107:504-7. 2007
    ..The increased risk of dynamic cord compression and alterations in CSF dynamics in patients with achondroplasia constitute indications for surgical intervention...
  29. ncbi request reprint Cerebro-osseous-digital syndrome: four new cases of a lethal skeletal dysplasia--distinct from Neu-Laxova Syndrome
    Alison M Elliott
    International Skeletal Dysplasia Registry, Cedars Sinai Medical Center, Los Angeles, California 90048, USA
    Am J Med Genet 109:139-48. 2002
    ..Patients 1-4 of this report lack the typical findings of NLS and likely represent a distinct lethal skeletal dysplasia...
  30. ncbi request reprint STAT1 and STAT3 do not participate in FGF-mediated growth arrest in chondrocytes
    Pavel Krejci
    Institute of Experimental Biology, Masaryk University, 61137 Brno, Czech Republic
    J Cell Sci 121:272-81. 2008
    ....
  31. ncbi request reprint Sustained, long-term renal stabilization after 54 months of agalsidase beta therapy in patients with Fabry disease
    Dominique P Germain
    Assistance Publique Hopitaux de Paris, Paris, France
    J Am Soc Nephrol 18:1547-57. 2007
    ..Long-term agalsidase beta therapy stabilizes renal function in patients without renal involvement at baseline, maintains reduction of plasma GL-3, and sustains GL-3 clearance in capillary endothelial cells and multiple renal cell types...
  32. ncbi request reprint Agalsidase-beta therapy for advanced Fabry disease: a randomized trial
    Maryam Banikazemi
    Mount Sinai School of Medicine of New York University, New York, New York, USA
    Ann Intern Med 146:77-86. 2007
    ..Fabry disease (alpha-galactosidase A deficiency) is a rare, X-linked lysosomal storage disorder that can cause early death from renal, cardiac, and cerebrovascular involvement...
  33. ncbi request reprint Fabry disease, an under-recognized multisystemic disorder: expert recommendations for diagnosis, management, and enzyme replacement therapy
    Robert J Desnick
    Department of Human Genetics, Box 1498, Mount Sinai School of Medicine, Fifth Avenue at 100th Street, New York, NY 10029, USA
    Ann Intern Med 138:338-46. 2003
    ....
  34. ncbi request reprint Fabry disease: guidelines for the evaluation and management of multi-organ system involvement
    Christine M Eng
    Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA
    Genet Med 8:539-48. 2006
    ....
  35. ncbi request reprint Osteocraniostenosis-hypomineralized skull with gracile long bones and splenic hypoplasia. Four new cases with distinctive chondro-osseous morphology
    Alison M Elliott
    Department of Biochemistry and Medical Genetics, University of Manitoba, Winnipeg, Canada
    Am J Med Genet A 140:1553-63. 2006
    ..There are some radiographic and chondro-osseous morphologic similarities between osteocraniostenosis and severe Hallermann-Streiff syndrome (HSS), suggesting the two disorders may be pathogenetically related...
  36. ncbi request reprint Differentiating campomelic dysplasia from Cumming syndrome
    Valerie Watiker
    Am J Med Genet A 135:110-2. 2005
  37. pmc Autosomal recessive HEM/Greenberg skeletal dysplasia is caused by 3 beta-hydroxysterol delta 14-reductase deficiency due to mutations in the lamin B receptor gene
    Hans R Waterham
    Department of Pediatrics, Emma Children s Hospital, Academic Medical Center, Amsterdam, The Netherlands
    Am J Hum Genet 72:1013-7. 2003
    ..The fact that the healthy mother of the fetus showed hypolobulated nuclei in 60% of her granulocytes confirms that classic Pelger-Huët anomaly represents the heterozygous state of 3beta-hydroxysterol delta(14)-reductase deficiency...
  38. ncbi request reprint Mutations in the EVC1 gene are not a common finding in the Ellis-van Creveld and short rib-polydactyly type III syndromes
    Yuji Takamine
    Am J Med Genet A 130:96-7. 2004
  39. ncbi request reprint The antiapoptotic protein Api5 and its partner, high molecular weight FGF2, are up-regulated in B cell chronic lymphoid leukemia
    Pavel Krejci
    J Leukoc Biol 82:1363-4. 2007