Research Topics
Genomes and GenesSpecies | William R WilcoxSummaryAffiliation: Cedars-Sinai Medical Center Country: USA Publications
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Publications
Bisindolylmaleimide I suppresses fibroblast growth factor-mediated activation of Erk MAP kinase in chondrocytes by preventing Shp2 association with the Frs2 and Gab1 adaptor proteinsPavel 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...- Females with Fabry disease frequently have major organ involvement: lessons from the Fabry RegistryWilliam 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... - Lysosomal storage disorders: the need for better pediatric recognition and comprehensive careWilliam R Wilcox
Division of Medical Genetics, Cedars-Sinai Medical Center, Los Angeles, California 90048, USA
J Pediatr 144:S3-14. 2004 
BMPER mutation in diaphanospondylodysostosis identified by ancestral autozygosity mapping and targeted high-throughput sequencingVincent 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...- Improvement in serial cardiopulmonary exercise testing following enzyme replacement therapy in Fabry diseaseGregory 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... 
Anti-α-galactosidase A antibody response to agalsidase beta treatment: data from the Fabry RegistryWilliam 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...- NF449 is a novel inhibitor of fibroblast growth factor receptor 3 (FGFR3) signaling active in chondrocytes and multiple myeloma cellsPavel 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... - C-natriuretic peptide: an important regulator of cartilageKaterina 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... - Fibroblast growth factors 1, 2, 17, and 19 are the predominant FGF ligands expressed in human fetal growth plate cartilagePavel 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... - Heterozygous Fabry women are not just carriers, but have a significant burden of disease and impaired quality of lifeRaymond 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... - Receptor tyrosine kinases activate canonical WNT/β-catenin signaling via MAP kinase/LRP6 pathway and direct β-catenin phosphorylationPavel 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... - Long-term safety and efficacy of enzyme replacement therapy for Fabry diseaseWilliam 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... - Simple, mammalian cell-based assay for identification of inhibitors of the Erk MAP kinase pathwayPavel 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... - Evaluation of prenatal-onset osteochondrodysplasias by ultrasonography: a retrospective and prospective analysisDeborah 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.... - Bent bone dysplasia-FGFR2 type, a distinct skeletal disorder, has deficient canonical FGF signalingAmy 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... - Interaction of fibroblast growth factor and C-natriuretic peptide signaling in regulation of chondrocyte proliferation and extracellular matrix homeostasisPavel 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... - Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmiaMatthew 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... - Ehlers-Danlos type VIII, periodontitis-type: further delineation of the syndrome in a four-generation pedigreeEyal 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... - Analysis of STAT1 activation by six FGFR3 mutants associated with skeletal dysplasia undermines dominant role of STAT1 in FGFR3 signaling in cartilagePavel 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... - Diaphanospondylodysostosis: six new cases and exclusion of the candidate genes, PAX1 and MEOX1Nithiwat 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... - Spondylo-mega-epiphyseal dysplasia with prominent upper limb mesomelia, punctate calcifications, and deafnessVishal 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... - Marked phenotypic variability in progressive diaphyseal dysplasia (Camurati-Engelmann disease): report of a four-generation pedigree, identification of a mutation in TGFB1, and reviewStephanie 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... - Fabry disease in a renal allograftDechu 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... - Fibrochondrogenesis results from mutations in the COL11A1 type XI collagen geneStuart 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... - 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 - FGF2 inhibits proliferation and alters the cartilage-like phenotype of RCS cellsPavel 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... - Cardiopulmonary exercise testing in Fabry diseaseGregory 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... - Dynamic cervicomedullary cord compression and alterations in cerebrospinal fluid dynamics in children with achondroplasia. Report of four casesMoise 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... - Cerebro-osseous-digital syndrome: four new cases of a lethal skeletal dysplasia--distinct from Neu-Laxova SyndromeAlison 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... - STAT1 and STAT3 do not participate in FGF-mediated growth arrest in chondrocytesPavel Krejci
Institute of Experimental Biology, Masaryk University, 61137 Brno, Czech Republic
J Cell Sci 121:272-81. 2008.... - Sustained, long-term renal stabilization after 54 months of agalsidase beta therapy in patients with Fabry diseaseDominique 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... - Agalsidase-beta therapy for advanced Fabry disease: a randomized trialMaryam 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... - Fabry disease, an under-recognized multisystemic disorder: expert recommendations for diagnosis, management, and enzyme replacement therapyRobert 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.... - Fabry disease: guidelines for the evaluation and management of multi-organ system involvementChristine 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.... - Osteocraniostenosis-hypomineralized skull with gracile long bones and splenic hypoplasia. Four new cases with distinctive chondro-osseous morphologyAlison 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... - Differentiating campomelic dysplasia from Cumming syndromeValerie Watiker
Am J Med Genet A 135:110-2. 2005 - Autosomal recessive HEM/Greenberg skeletal dysplasia is caused by 3 beta-hydroxysterol delta 14-reductase deficiency due to mutations in the lamin B receptor geneHans 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... - Mutations in the EVC1 gene are not a common finding in the Ellis-van Creveld and short rib-polydactyly type III syndromesYuji Takamine
Am J Med Genet A 130:96-7. 2004 - The antiapoptotic protein Api5 and its partner, high molecular weight FGF2, are up-regulated in B cell chronic lymphoid leukemiaPavel Krejci
J Leukoc Biol 82:1363-4. 2007