Dr. Willam Wilcox
William R. Wilcox, MD, PhD, is Director of the Metabolic Disorders Clinic in Medical Genetics and Director of the Skeletal Dysplasia Morphology Laboratory at Cedars-Sinai. Dr. Wilcox also serves Cedars-Sinai as Director of the Lysosomal Storage Disease Program at Cedars-Sinai and a Professor in the Medical Genetics Fellowship Program.
Dr. Wilcox is board certified in clinical genetics, clinical biochemical genetics and clinical molecular genetics. His current research interests include treatment of lysosomal storage diseases; the clinical definition, morphology, pathophysiology and treatment of human dwarfing conditions (skeletal dysplasias); and genetic defects in the Marinesco-Sjögren syndrome. He is on the advisory board of the Fabry Disease Registry and chairs the American College of Medical Genetics Therapeutics Committee.
Dr. Wilcox is a graduate of the University of California, Los Angeles (UCLA) School of Medicine. He completed a residency in pediatrics at UCLA and a genetics fellowship in the UCLA Intercampus Medical Genetics Training Program.
Dr. Wilcox is board certified in clinical genetics, clinical biochemical genetics and clinical molecular genetics. His current research interests include treatment of lysosomal storage diseases; the clinical definition, morphology, pathophysiology and treatment of human dwarfing conditions (skeletal dysplasias); and genetic defects in the Marinesco-Sjögren syndrome. He is on the advisory board of the Fabry Disease Registry and chairs the American College of Medical Genetics Therapeutics Committee.
Dr. Wilcox is a graduate of the University of California, Los Angeles (UCLA) School of Medicine. He completed a residency in pediatrics at UCLA and a genetics fellowship in the UCLA Intercampus Medical Genetics Training Program.
Dr. Pavel Krejci
Dr. Krejci was born in what is now the Czech Republic. He graduated with a bachelor’s degree in Biology from the Masaryk University in Brno. He then went on to obtain his Ph.D. in Molecular Embryology at the Mendel University in Brno. His graduate work concentrated on the role of fibroblast growth factors in leukemia. He did post-doctoral fellowships in the Wilcox laboratory from 2001-2003 and in Toulouse, France from 2003-2004. He then returned to Cedars-Sinai where he is a research scientist and member of the genetics faculty. He is an Adjunct Associate Professor of Pediatrics through the UCLA School of Medicine. Dr. Krejci has maintained his connections in the Czech Republic, where he is a research scientist and supervises graduate students in the Institute of Experimental Biology at Masaryk University in Brno. He has obtained several grants in the Czech Republic to study FGF signaling and, now that he is a permanent resident of the U.S., applied for grant funding from the NIH. The ongoing relationship between the U.S. and Czech Republic labs has been extremely helpful to our ongoing efforts to understand FGFR3 and find novel targets for treatment.
Dr. Krejci will continue to dissect the pathways FGFR3 uses to cause dwarfism so new targets can be identified.
Pavel has two children and enjoys hiking, backpacking, fishing, and is an accomplished naturalist.
Blog from Dr Wilcox and Krejci will be added here.
Dr. Krejci will continue to dissect the pathways FGFR3 uses to cause dwarfism so new targets can be identified.
Pavel has two children and enjoys hiking, backpacking, fishing, and is an accomplished naturalist.
Blog from Dr Wilcox and Krejci will be added here.
Visit the site at: http://www.cedars-sinai.edu/Research-and-Education/Research-Labs/Skeletal-Dysplasia-Morphology-Laboratory.aspx
Meet the Lab
Yuan Xue, M.D., Ph.D.
Dr. Xue was born in Wuhan, China. In 2000, she obtained her M.D. degree from the Tongji Medical University in Wuhan. She then came to the U.S. where she obtained her Ph.D. in 2006 from Kansas State University in Human Nutrition in Molecular Biochemistry. After her Ph.D., she worked in two core laboratories at UCLA and Cedars-Sinai from 2007 to 2011.
In 2011, Dr. Xue joined the laboratory to study a treatment for achondroplasia being tested by a biotechnology company.
Dr. Xue will be conducting a large scale drug screen using a modification of the screening system that Dr. Krejci developed and used to identify NF449. The goal is to identify potential new drugs to treat achondroplasia.
Yuan enjoys hiking, traveling, art, and painting.
Jorge Martin, B.S.
Jorge joined the lab in 2011 as a senior technician after working for many years at U.C. Irvine. Jorge is in charge of the tissue and cell collection from the International Skeletal Dysplasia Registry at Cedars-Sinai, an invaluable resource for studying dwarfisms.
Jorge will be assisting Drs. Krejci and Xue with some of their work in the lab.
Jorge is an accomplished musician.
Publications from the Wilcox/Krejci Laboratory
Fibroblast growth factors:
Krejci P, Pejchalova K, Rosenbloom BE, Rosenfelt FP, Tran EL, Laurell H,
Wilcox WR. The antiapoptotic protein Api5 and its partner, high molecular weight
FGF2, are up-regulated in B cell chronic lymphoid leukemia. J Leukoc Biol. 2007
Dec;82(6):1363-4. Epub 2007 Sep 7. PubMed PMID: 17827341.
Krejci P, Krakow D, Mekikian PB, Wilcox WR. Fibroblast growth factors 1, 2,
17, and 19 are the predominant FGF ligands expressed in human fetal growth plate
cartilage. Pediatr Res. 2007 Mar;61(3):267-72. PubMed PMID: 17314681.
Krejci P, Mekikian PB, Wilcox WR. The fibroblast growth factors in multiple
myeloma. Leukemia. 2006 Jun;20(6):1165-8. PubMed PMID: 16598309.
Fibroblast growth factor signaling:
Merrill AE, Sarukhanov A, Krejci P, Idoni B, Camacho N, Estrada KD, Lyons KM,
Deixler H, Robinson H, Chitayat D, Curry CJ, Lachman RS, Wilcox WR, Krakow D.
Bent Bone Dysplasia-FGFR2 type, a Distinct Skeletal Disorder, Has Deficient
Canonical FGF Signaling. Am J Hum Genet. 3012 Mar 9;90(3):550-557. Epub 2012 Mar
1. PubMed PMID: 22387015.
Červenka I, Wolf J, Mašek J, Krejci P, Wilcox WR, Kozubík A, Schulte G,
Gutkind JS, Bryja V. Mitogen-activated protein kinases promote WNT/beta-catenin
signaling via phosphorylation of LRP6. Mol Cell Biol. 2011 Jan;31(1):179-89. Epub
2010 Oct 25. PubMed PMID: 20974802; PubMed Central PMCID: PMC3019858.
Krejci P, Prochazkova J, Smutny J, Chlebova K, Lin P, Aklian A, Bryja V,
Kozubik A, Wilcox WR. FGFR3 signaling induces a reversible senescence phenotype
in chondrocytes similar to oncogene-induced premature senescence. Bone. 2010
Jul;47(1):102-10. Epub 2010 Mar 31. PubMed PMID: 20362703; PubMed Central PMCID:
PMC3087869.
Salazar L, Kashiwada T, Krejci P, Muchowski P, Donoghue D, Wilcox WR, Thompson
LM. A novel interaction between fibroblast growth factor receptor 3 and the p85
subunit of phosphoinositide 3-kinase: activation-dependent regulation of ERK by
p85 in multiple myeloma cells. Hum Mol Genet. 2009 Jun 1;18(11):1951-61. Epub
2009 Mar 13. PubMed PMID: 19286672; PubMed Central PMCID: PMC2902846.
Krejci P, Salazar L, Kashiwada TA, Chlebova K, Salasova A, Thompson LM, Bryja
V, Kozubik A, Wilcox WR. Analysis of STAT1 activation by six FGFR3 mutants
associated with skeletal dysplasia undermines dominant role of STAT1 in FGFR3
signaling in cartilage. PLoS One. 2008;3(12):e3961. Epub 2008 Dec 17. PubMed
PMID: 19088846; PubMed Central PMCID: PMC2597732.
Krejci P, Prochazkova J, Bryja V, Jelinkova P, Pejchalova K, Kozubik A,
Thompson LM, Wilcox WR. Fibroblast growth factor inhibits interferon gamma-STAT1
and interleukin 6-STAT3 signaling in chondrocytes. Cell Signal. 2009
Jan;21(1):151-60. Epub 2008 Oct 12. PubMed PMID: 18950705; PubMed Central PMCID:
PMC2655766.
Matsushita T, Wilcox WR, Chan YY, Kawanami A, Bükülmez H, Balmes G, Krejci P,
Mekikian PB, Otani K, Yamaura I, Warman ML, Givol D, Murakami S. FGFR3 promotes
synchondrosis closure and fusion of ossification centers through the MAPK
pathway. Hum Mol Genet. 2009 Jan 15;18(2):227-40. Epub 2008 Oct 15. PubMed PMID:
18923003; PubMed Central PMCID: PMC2638772.
Krejci P, Salazar L, Goodridge HS, Kashiwada TA, Schibler MJ, Jelinkova P,
Thompson LM, Wilcox WR. STAT1 and STAT3 do not participate in FGF-mediated growth
arrest in chondrocytes. J Cell Sci. 2008 Feb 1;121(Pt 3):272-81. Epub 2008 Jan
15. PubMed PMID: 18198189.
Krejci P, Masri B, Salazar L, Farrington-Rock C, Prats H, Thompson LM, Wilcox
WR. 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. J Biol Chem. 2007 Feb 2;282(5):2929-36. Epub 2006 Dec
4. PubMed PMID: 17145761.
Drugs and drug screening technique:
Scuto A, Krejci P, Popplewell L, Wu J, Wang Y, Kujawski M, Kowolik C, Xin H,
Chen L, Wang Y, Kretzner L, Yu H, Wilcox WR, Yen Y, Forman S, Jove R. The novel
JAK inhibitor AZD1480 blocks STAT3 and FGFR3 signaling, resulting in suppression
of human myeloma cell growth and survival. Leukemia. 2011 Mar;25(3):538-50. Epub
2010 Dec 17. PubMed PMID: 21164517; PubMed Central PMCID: PMC3216671.
Krejci P, Murakami S, Prochazkova J, Trantirek L, Chlebova K, Ouyang Z, Aklian
A, Smutny J, Bryja V, Kozubik A, Wilcox WR. NF449 is a novel inhibitor of
fibroblast growth factor receptor 3 (FGFR3) signaling active in chondrocytes and
multiple myeloma cells. J Biol Chem. 2010 Jul 2;285(27):20644-53. Epub 2010 May
3. PubMed PMID: 20439987; PubMed Central PMCID: PMC2898326.
Krejci P, Pejchalova K, Wilcox WR. Simple, mammalian cell-based assay for
identification of inhibitors of the Erk MAP kinase pathway. Invest New Drugs.
2007 Aug;25(4):391-5. Epub 2007 Apr 26. PubMed PMID: 17458503.
Krejci P, Masri B, Fontaine V, Mekikian PB, Weis M, Prats H, Wilcox WR.
Interaction of fibroblast growth factor and C-natriuretic peptide signaling in
regulation of chondrocyte proliferation and extracellular matrix homeostasis. J
Cell Sci. 2005 Nov 1;118(Pt 21):5089-100. Epub 2005 Oct 18. PubMed PMID:
16234329.
Krejci P, Bryja V, Pachernik J, Hampl A, Pogue R, Mekikian P, Wilcox WR. FGF2
inhibits proliferation and alters the cartilage-like phenotype of RCS cells. Exp
Cell Res. 2004 Jul 1;297(1):152-64. PubMed PMID: 15194433.
Clinical and molecular:
Danielpour M, Wilcox WR, Alanay Y, Pressman BD, Rimoin DL. Dynamic
cervicomedullary cord compression and alterations in cerebrospinal fluid dynamics
in children with achondroplasia. Report of four cases. J Neurosurg. 2007
Dec;107(6 Suppl):504-7. PubMed PMID: 18154022.
Schweitzer DN, Graham JM Jr, Lachman RS, Jabs EW, Okajima K, Przylepa KA,
Shanske A, Chen K, Neidich JA, Wilcox WR. Subtle radiographic findings of
achondroplasia in patients with Crouzon syndrome with acanthosis nigricans due to
an Ala391Glu substitution in FGFR3. Am J Med Genet. 2001 Jan 1;98(1):75-91.
Review. PubMed PMID: 11426459.
Kitoh H, Brodie SG, Kupke KG, Lachman RS, Wilcox WR. Lys650Met substitution
in the tyrosine kinase domain of the fibroblast growth factor receptor gene
causes thanatophoric dysplasia Type I. Mutations in brief no. 199. Online. Hum
Mutat. 1998;12(5):362-3. PubMed PMID: 10671061.
Bellus GA, Bamshad MJ, Przylepa KA, Dorst J, Lee RR, Hurko O, Jabs EW, Curry
CJ, Wilcox WR, Lachman RS, Rimoin DL, Francomano CA. Severe achondroplasia with
developmental delay and acanthosis nigricans (SADDAN): phenotypic analysis of a
new skeletal dysplasia caused by a Lys650Met mutation in fibroblast growth factor
receptor 3. Am J Med Genet. 1999 Jul 2;85(1):53-65. PubMed PMID: 10377013.
Brodie SG, Kitoh H, Lachman RS, Nolasco LM, Mekikian PB, Wilcox WR.
Platyspondylic lethal skeletal dysplasia, San Diego type, is caused by FGFR3
mutations. Am J Med Genet. 1999 Jun 11;84(5):476-80. PubMed PMID: 10360402.
Tavormina PL, Bellus GA, Webster MK, Bamshad MJ, Fraley AE, McIntosh I, Szabo
J, Jiang W, Jabs EW, Wilcox WR, Wasmuth JJ, Donoghue DJ, Thompson LM, Francomano
CA. A novel skeletal dysplasia with developmental delay and acanthosis nigricans
is caused by a Lys650Met mutation in the fibroblast growth factor receptor 3
gene. Am J Hum Genet. 1999 Mar;64(3):722-31. PubMed PMID: 10053006; PubMed
Central PMCID: PMC1377789.
Brodie SG, Kitoh H, Lipson M, Sifry-Platt M, Wilcox WR. Thanatophoric
dysplasia type I with syndactyly. Am J Med Genet. 1998 Nov 16;80(3):260-2. PubMed
PMID: 9843049.
Kitoh H, Lachman RS, Brodie SG, Mekikian PB, Rimoin DL, Wilcox WR. Extra
pelvic ossification centers in thanatophoric dysplasia and platyspondylic lethal
skeletal dysplasia-San Diego type. Pediatr Radiol. 1998 Oct;28(10):759-63. PubMed
PMID: 9799297.
Wilcox WR, Tavormina PL, Krakow D, Kitoh H, Lachman RS, Wasmuth JJ, Thompson
LM, Rimoin DL. Molecular, radiologic, and histopathologic correlations in
thanatophoric dysplasia. Am J Med Genet. 1998 Jul 7;78(3):274-81. PubMed PMID:
9677066.
Tavormina PL, Shiang R, Thompson LM, Zhu YZ, Wilkin DJ, Lachman RS, Wilcox
WR, Rimoin DL, Cohn DH, Wasmuth JJ. Thanatophoric dysplasia (types I and II)
caused by distinct mutations in fibroblast growth factor receptor 3. Nat Genet.
1995 Mar;9(3):321-8. PubMed PMID: 7773297.
Reviews:
Foldynova-Trantirkova S, Wilcox WR, Krejci P. Sixteen years and counting: the
current understanding of fibroblast growth factor receptor 3 (FGFR3) signaling in
skeletal dysplasias. Hum Mutat. 2012 Jan;33(1):29-41. doi: 10.1002/humu.21636.
Epub 2011 Nov 16. PubMed PMID: 22045636; PubMed Central PMCID: PMC3240715.
Krejci P, Prochazkova J, Bryja V, Kozubik A, Wilcox WR. Molecular pathology of
the fibroblast growth factor family. Hum Mutat. 2009 Sep;30(9):1245-55. Review.
PubMed PMID: 19621416; PubMed Central PMCID: PMC2793272.
Chlebova K, Bryja V, Dvorak P, Kozubik A, Wilcox WR, Krejci P. High molecular
weight FGF2: the biology of a nuclear growth factor. Cell Mol Life Sci. 2009
Jan;66(2):225-35. Review. PubMed PMID: 18850066; PubMed Central PMCID:
PMC3229932.
Pejchalova K, Krejci P, Wilcox WR. C-natriuretic peptide: an important
regulator of cartilage. Mol Genet Metab. 2007 Nov;92(3):210-5. Epub 2007 Aug 6.
Review. PubMed PMID: 17681481.
Passos-Bueno MR, Wilcox WR, Jabs EW, Sertié AL, Alonso LG, Kitoh H. Clinical
spectrum of fibroblast growth factor receptor mutations. Hum Mutat.
1999;14(2):115-25. Erratum in: Hum Mutat 2001 May;17(5):431. PubMed PMID:
10425034.
Dr. Xue was born in Wuhan, China. In 2000, she obtained her M.D. degree from the Tongji Medical University in Wuhan. She then came to the U.S. where she obtained her Ph.D. in 2006 from Kansas State University in Human Nutrition in Molecular Biochemistry. After her Ph.D., she worked in two core laboratories at UCLA and Cedars-Sinai from 2007 to 2011.
In 2011, Dr. Xue joined the laboratory to study a treatment for achondroplasia being tested by a biotechnology company.
Dr. Xue will be conducting a large scale drug screen using a modification of the screening system that Dr. Krejci developed and used to identify NF449. The goal is to identify potential new drugs to treat achondroplasia.
Yuan enjoys hiking, traveling, art, and painting.
Jorge Martin, B.S.
Jorge joined the lab in 2011 as a senior technician after working for many years at U.C. Irvine. Jorge is in charge of the tissue and cell collection from the International Skeletal Dysplasia Registry at Cedars-Sinai, an invaluable resource for studying dwarfisms.
Jorge will be assisting Drs. Krejci and Xue with some of their work in the lab.
Jorge is an accomplished musician.
Publications from the Wilcox/Krejci Laboratory
Fibroblast growth factors:
Krejci P, Pejchalova K, Rosenbloom BE, Rosenfelt FP, Tran EL, Laurell H,
Wilcox WR. The antiapoptotic protein Api5 and its partner, high molecular weight
FGF2, are up-regulated in B cell chronic lymphoid leukemia. J Leukoc Biol. 2007
Dec;82(6):1363-4. Epub 2007 Sep 7. PubMed PMID: 17827341.
Krejci P, Krakow D, Mekikian PB, Wilcox WR. Fibroblast growth factors 1, 2,
17, and 19 are the predominant FGF ligands expressed in human fetal growth plate
cartilage. Pediatr Res. 2007 Mar;61(3):267-72. PubMed PMID: 17314681.
Krejci P, Mekikian PB, Wilcox WR. The fibroblast growth factors in multiple
myeloma. Leukemia. 2006 Jun;20(6):1165-8. PubMed PMID: 16598309.
Fibroblast growth factor signaling:
Merrill AE, Sarukhanov A, Krejci P, Idoni B, Camacho N, Estrada KD, Lyons KM,
Deixler H, Robinson H, Chitayat D, Curry CJ, Lachman RS, Wilcox WR, Krakow D.
Bent Bone Dysplasia-FGFR2 type, a Distinct Skeletal Disorder, Has Deficient
Canonical FGF Signaling. Am J Hum Genet. 3012 Mar 9;90(3):550-557. Epub 2012 Mar
1. PubMed PMID: 22387015.
Červenka I, Wolf J, Mašek J, Krejci P, Wilcox WR, Kozubík A, Schulte G,
Gutkind JS, Bryja V. Mitogen-activated protein kinases promote WNT/beta-catenin
signaling via phosphorylation of LRP6. Mol Cell Biol. 2011 Jan;31(1):179-89. Epub
2010 Oct 25. PubMed PMID: 20974802; PubMed Central PMCID: PMC3019858.
Krejci P, Prochazkova J, Smutny J, Chlebova K, Lin P, Aklian A, Bryja V,
Kozubik A, Wilcox WR. FGFR3 signaling induces a reversible senescence phenotype
in chondrocytes similar to oncogene-induced premature senescence. Bone. 2010
Jul;47(1):102-10. Epub 2010 Mar 31. PubMed PMID: 20362703; PubMed Central PMCID:
PMC3087869.
Salazar L, Kashiwada T, Krejci P, Muchowski P, Donoghue D, Wilcox WR, Thompson
LM. A novel interaction between fibroblast growth factor receptor 3 and the p85
subunit of phosphoinositide 3-kinase: activation-dependent regulation of ERK by
p85 in multiple myeloma cells. Hum Mol Genet. 2009 Jun 1;18(11):1951-61. Epub
2009 Mar 13. PubMed PMID: 19286672; PubMed Central PMCID: PMC2902846.
Krejci P, Salazar L, Kashiwada TA, Chlebova K, Salasova A, Thompson LM, Bryja
V, Kozubik A, Wilcox WR. Analysis of STAT1 activation by six FGFR3 mutants
associated with skeletal dysplasia undermines dominant role of STAT1 in FGFR3
signaling in cartilage. PLoS One. 2008;3(12):e3961. Epub 2008 Dec 17. PubMed
PMID: 19088846; PubMed Central PMCID: PMC2597732.
Krejci P, Prochazkova J, Bryja V, Jelinkova P, Pejchalova K, Kozubik A,
Thompson LM, Wilcox WR. Fibroblast growth factor inhibits interferon gamma-STAT1
and interleukin 6-STAT3 signaling in chondrocytes. Cell Signal. 2009
Jan;21(1):151-60. Epub 2008 Oct 12. PubMed PMID: 18950705; PubMed Central PMCID:
PMC2655766.
Matsushita T, Wilcox WR, Chan YY, Kawanami A, Bükülmez H, Balmes G, Krejci P,
Mekikian PB, Otani K, Yamaura I, Warman ML, Givol D, Murakami S. FGFR3 promotes
synchondrosis closure and fusion of ossification centers through the MAPK
pathway. Hum Mol Genet. 2009 Jan 15;18(2):227-40. Epub 2008 Oct 15. PubMed PMID:
18923003; PubMed Central PMCID: PMC2638772.
Krejci P, Salazar L, Goodridge HS, Kashiwada TA, Schibler MJ, Jelinkova P,
Thompson LM, Wilcox WR. STAT1 and STAT3 do not participate in FGF-mediated growth
arrest in chondrocytes. J Cell Sci. 2008 Feb 1;121(Pt 3):272-81. Epub 2008 Jan
15. PubMed PMID: 18198189.
Krejci P, Masri B, Salazar L, Farrington-Rock C, Prats H, Thompson LM, Wilcox
WR. 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. J Biol Chem. 2007 Feb 2;282(5):2929-36. Epub 2006 Dec
4. PubMed PMID: 17145761.
Drugs and drug screening technique:
Scuto A, Krejci P, Popplewell L, Wu J, Wang Y, Kujawski M, Kowolik C, Xin H,
Chen L, Wang Y, Kretzner L, Yu H, Wilcox WR, Yen Y, Forman S, Jove R. The novel
JAK inhibitor AZD1480 blocks STAT3 and FGFR3 signaling, resulting in suppression
of human myeloma cell growth and survival. Leukemia. 2011 Mar;25(3):538-50. Epub
2010 Dec 17. PubMed PMID: 21164517; PubMed Central PMCID: PMC3216671.
Krejci P, Murakami S, Prochazkova J, Trantirek L, Chlebova K, Ouyang Z, Aklian
A, Smutny J, Bryja V, Kozubik A, Wilcox WR. NF449 is a novel inhibitor of
fibroblast growth factor receptor 3 (FGFR3) signaling active in chondrocytes and
multiple myeloma cells. J Biol Chem. 2010 Jul 2;285(27):20644-53. Epub 2010 May
3. PubMed PMID: 20439987; PubMed Central PMCID: PMC2898326.
Krejci P, Pejchalova K, Wilcox WR. Simple, mammalian cell-based assay for
identification of inhibitors of the Erk MAP kinase pathway. Invest New Drugs.
2007 Aug;25(4):391-5. Epub 2007 Apr 26. PubMed PMID: 17458503.
Krejci P, Masri B, Fontaine V, Mekikian PB, Weis M, Prats H, Wilcox WR.
Interaction of fibroblast growth factor and C-natriuretic peptide signaling in
regulation of chondrocyte proliferation and extracellular matrix homeostasis. J
Cell Sci. 2005 Nov 1;118(Pt 21):5089-100. Epub 2005 Oct 18. PubMed PMID:
16234329.
Krejci P, Bryja V, Pachernik J, Hampl A, Pogue R, Mekikian P, Wilcox WR. FGF2
inhibits proliferation and alters the cartilage-like phenotype of RCS cells. Exp
Cell Res. 2004 Jul 1;297(1):152-64. PubMed PMID: 15194433.
Clinical and molecular:
Danielpour M, Wilcox WR, Alanay Y, Pressman BD, Rimoin DL. Dynamic
cervicomedullary cord compression and alterations in cerebrospinal fluid dynamics
in children with achondroplasia. Report of four cases. J Neurosurg. 2007
Dec;107(6 Suppl):504-7. PubMed PMID: 18154022.
Schweitzer DN, Graham JM Jr, Lachman RS, Jabs EW, Okajima K, Przylepa KA,
Shanske A, Chen K, Neidich JA, Wilcox WR. Subtle radiographic findings of
achondroplasia in patients with Crouzon syndrome with acanthosis nigricans due to
an Ala391Glu substitution in FGFR3. Am J Med Genet. 2001 Jan 1;98(1):75-91.
Review. PubMed PMID: 11426459.
Kitoh H, Brodie SG, Kupke KG, Lachman RS, Wilcox WR. Lys650Met substitution
in the tyrosine kinase domain of the fibroblast growth factor receptor gene
causes thanatophoric dysplasia Type I. Mutations in brief no. 199. Online. Hum
Mutat. 1998;12(5):362-3. PubMed PMID: 10671061.
Bellus GA, Bamshad MJ, Przylepa KA, Dorst J, Lee RR, Hurko O, Jabs EW, Curry
CJ, Wilcox WR, Lachman RS, Rimoin DL, Francomano CA. Severe achondroplasia with
developmental delay and acanthosis nigricans (SADDAN): phenotypic analysis of a
new skeletal dysplasia caused by a Lys650Met mutation in fibroblast growth factor
receptor 3. Am J Med Genet. 1999 Jul 2;85(1):53-65. PubMed PMID: 10377013.
Brodie SG, Kitoh H, Lachman RS, Nolasco LM, Mekikian PB, Wilcox WR.
Platyspondylic lethal skeletal dysplasia, San Diego type, is caused by FGFR3
mutations. Am J Med Genet. 1999 Jun 11;84(5):476-80. PubMed PMID: 10360402.
Tavormina PL, Bellus GA, Webster MK, Bamshad MJ, Fraley AE, McIntosh I, Szabo
J, Jiang W, Jabs EW, Wilcox WR, Wasmuth JJ, Donoghue DJ, Thompson LM, Francomano
CA. A novel skeletal dysplasia with developmental delay and acanthosis nigricans
is caused by a Lys650Met mutation in the fibroblast growth factor receptor 3
gene. Am J Hum Genet. 1999 Mar;64(3):722-31. PubMed PMID: 10053006; PubMed
Central PMCID: PMC1377789.
Brodie SG, Kitoh H, Lipson M, Sifry-Platt M, Wilcox WR. Thanatophoric
dysplasia type I with syndactyly. Am J Med Genet. 1998 Nov 16;80(3):260-2. PubMed
PMID: 9843049.
Kitoh H, Lachman RS, Brodie SG, Mekikian PB, Rimoin DL, Wilcox WR. Extra
pelvic ossification centers in thanatophoric dysplasia and platyspondylic lethal
skeletal dysplasia-San Diego type. Pediatr Radiol. 1998 Oct;28(10):759-63. PubMed
PMID: 9799297.
Wilcox WR, Tavormina PL, Krakow D, Kitoh H, Lachman RS, Wasmuth JJ, Thompson
LM, Rimoin DL. Molecular, radiologic, and histopathologic correlations in
thanatophoric dysplasia. Am J Med Genet. 1998 Jul 7;78(3):274-81. PubMed PMID:
9677066.
Tavormina PL, Shiang R, Thompson LM, Zhu YZ, Wilkin DJ, Lachman RS, Wilcox
WR, Rimoin DL, Cohn DH, Wasmuth JJ. Thanatophoric dysplasia (types I and II)
caused by distinct mutations in fibroblast growth factor receptor 3. Nat Genet.
1995 Mar;9(3):321-8. PubMed PMID: 7773297.
Reviews:
Foldynova-Trantirkova S, Wilcox WR, Krejci P. Sixteen years and counting: the
current understanding of fibroblast growth factor receptor 3 (FGFR3) signaling in
skeletal dysplasias. Hum Mutat. 2012 Jan;33(1):29-41. doi: 10.1002/humu.21636.
Epub 2011 Nov 16. PubMed PMID: 22045636; PubMed Central PMCID: PMC3240715.
Krejci P, Prochazkova J, Bryja V, Kozubik A, Wilcox WR. Molecular pathology of
the fibroblast growth factor family. Hum Mutat. 2009 Sep;30(9):1245-55. Review.
PubMed PMID: 19621416; PubMed Central PMCID: PMC2793272.
Chlebova K, Bryja V, Dvorak P, Kozubik A, Wilcox WR, Krejci P. High molecular
weight FGF2: the biology of a nuclear growth factor. Cell Mol Life Sci. 2009
Jan;66(2):225-35. Review. PubMed PMID: 18850066; PubMed Central PMCID:
PMC3229932.
Pejchalova K, Krejci P, Wilcox WR. C-natriuretic peptide: an important
regulator of cartilage. Mol Genet Metab. 2007 Nov;92(3):210-5. Epub 2007 Aug 6.
Review. PubMed PMID: 17681481.
Passos-Bueno MR, Wilcox WR, Jabs EW, Sertié AL, Alonso LG, Kitoh H. Clinical
spectrum of fibroblast growth factor receptor mutations. Hum Mutat.
1999;14(2):115-25. Erratum in: Hum Mutat 2001 May;17(5):431. PubMed PMID:
10425034.
