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Thomas Jefferson University - Charlene J. Williams, Ph.D.
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Charlene J. Williams, Ph.D.
Medicine
Thomas Jefferson University
Jefferson Medical College
Department of Medicine
Professor
Appointed: 2002
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Mailing Address
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1025 Walnut Street
Philadelphia, Pennsylvania 19107
United States
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Expertise and Research Interests
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Molecular genetics of osteo- and inflammatory arthropathies.
Structural Biology, cell biology and biochemistry of gene products associated with the development of certain arthropathies such as chondrocalcinosis and Blau syndrome.
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Keywords
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Biomineralization; Chondrocalcinosis; Arthritis; Blau Syndrome; Health And Medicine
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Publications
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- Zaka R, Dion AS, Kusnierz A, Bohensky J, Srinivas V, Freeman T, Williams CJ. Oxygen tension regulates the expression of ANK in a HIF-1 dependent manner in the growth plate. J Bone Min Res, epub ahead of print, May 6, 2009.
- Han, F., Adams, C.S., Freeman, T., Tao, Z., Zaka, R., Liang, H., Williams, C.J., Tuan, R.S., Norton, P.A., Hickok, N.J.: Transforming growth factor b1 regulates fibronectin isoform expression and splicing factor SRp40 expression during ATDC5 chondrogenic maturation. Exp. Cell Res.,313(8):1518-1532, 2007.
- Williams CJ. Genetics of Osteoarthritis. Exp Rev Clin Immunol, 3(4):503-516, 2007.
- Zaka R and Williams CJ. The Phosphate/pyrophosphate axis in bone and cartilage mineralization. Curr Opin Orthopaed, 18(5): 454-459, 2007.
- Zaka R, Williams CJ (Jun 2006) New developments in the epidemiology and genetics of gout., Current rheumatology reports, 8 (3), 215-23
- Zaka R, Williams CJ (Mar 2006) Role of the progressive ankylosis gene in cartilage mineralization., Current opinion in rheumatology, 18 (2), 181-6
- Zaka R, Stokes D, Dion AS, Kusnierz A, Han F, Williams CJ (2006) P5L mutation in Ank results in an increase in extracellular inorganic pyrophosphate during proliferation and nonmineralizing hypertrophy in stably transduced ATDC5 cells., Arthritis research & therapy, 8 (6), R164
- Williams, CJ (2006) Genetics of the Crystal-Induced Arthropathies, Crystal-Induced Arthropathies: Gout, Pseudogout and Apatite Associated Syndromes, New York, Taylor and Francis, 37-60 pages (bookchapter)
- Zaka R, Williams CJ (Sep 2005) Genetics of chondrocalcinosis., Osteoarthritis and cartilage / OARS, Osteoarthritis Research Society, 13 (9), 745-50
- Han F, Adams CS, Tao Z, Williams CJ, Zaka R, Tuan RS, Norton PA, Hickok NJ (Jul 2005) Transforming growth factor-beta1 (TGF-beta1) regulates ATDC5 chondrogenic differentiation and fibronectin isoform expression., Journal of cellular biochemistry, 95 (4), 750-62
- Tanabe T, Chamaillard M, Ogura Y, Zhu L, Qiu S, Masumoto J, Ghosh P, Moran A, Predergast MM, Tromp G, Williams CJ, Inohara N, Núñez G (Apr 2004) Regulatory regions and critical residues of NOD2 involved in muramyl dipeptide recognition., The EMBO journal, 23 (7), 1587-97
- Williams CJ, Jimenez SA (Dec 2003) Skeletal dysplasias and the osteoarthritic phenotype., Best practice & research. Clinical rheumatology, 17 (6), 1005-18
- Williams CJ, Pendleton A, Bonavita G, Reginato AJ, Hughes AE, Peariso S, Doherty M, McCarty DJ, Ryan LM (Sep 2003) Mutations in the amino terminus of ANKH in two US families with calcium pyrophosphate dihydrate crystal deposition disease., Arthritis and rheumatism, 48 (9), 2627-31
- Williams CJ (May 2003) Familial calcium pyrophosphate dihydrate deposition disease and the ANKH gene., Current opinion in rheumatology, 15 (3), 326-31
- Wang X, Kuivaniemi H, Bonavita G, Mutkus L, Mau U, Blau E, Inohara N, Nunez G, Tromp G, Williams CJ (Nov 2002) CARD15 mutations in familial granulomatosis syndromes: a study of the original Blau syndrome kindred and other families with large-vessel arteritis and cranial neuropathy., Arthritis and rheumatism, 46 (11), 3041-5
- Williams CJ, Zhang Y, Timms A, Bonavita G, Caeiro F, Broxholme J, Cuthbertson J, Jones Y, Marchegiani R, Reginato A, Russell RG, Wordsworth BP, Carr AJ, Brown MA (Oct 2002) Autosomal dominant familial calcium pyrophosphate dihydrate deposition disease is caused by mutation in the transmembrane protein ANKH., American journal of human genetics, 71 (4), 985-91
- Crim JL, Spotila LD, Spotila JR, O'Connor M, Reina R, Williams CJ, Paladino FV (Oct 2002) The leatherback turtle, Dermochelys coriacea, exhibits both polyandry and polygyny., Molecular ecology, 11 (10), 2097-106
- Pendleton A, Johnson MD, Hughes A, Gurley KA, Ho AM, Doherty M, Dixey J, Gillet P, Loeuille D, McGrath R, Reginato A, Shiang R, Wright G, Netter P, Williams C, Kingsley DM (Oct 2002) Mutations in ANKH cause chondrocalcinosis., American journal of human genetics, 71 (4), 933-40
- Wang X, Kuivaniemi H, Bonavita G, Williams CJ, Tromp G (Aug 2002) High-resolution physical map for chromosome 16q12.1-q13, the Blau syndrome locus., BMC genomics, 3 (1), 24
- Devoto M, Shimoya K, Caminis J, Ott J, Tenenhouse A, Whyte MP, Sereda L, Hall S, Considine E, Williams CJ, Tromp G, Kuivaniemi H, Ala-Kokko L, Prockop DJ, Spotila LD, First-stage autosomal genome screen in extended pedigrees suggests genes predisposing to low bone mineral density on chromosomes 1p, 2p and 4q., European journal of human genetics : EJHG, 6 (2), 151-7
- Pons-Estel BA, Gimenez C, Sacnun M, Gentiletti S, Battagliotti CA, de la Pena LS, Williams CJ, Reginato AJ (Feb 2000) Familial osteoarthritis and Milwaukee shoulder associated with calcium pyrophosphate and apatite crystal deposition., The Journal of rheumatology, 27 (2), 471-80
- Rojas K, Serrano de la Peña L, Gallardo T, Simmons A, Nyce K, McGrath R, Considine E, Vasko AJ, Peterson E, Grady D, Cox R, Andrew LJ, Lovett M, Overhauser J, Williams CJ (Dec 1999) Physical map and characterization of transcripts in the candidate interval for familial chondrocalcinosis at chromosome 5p15.1., Genomics, 62 (2), 177-83
- Marinescu RC, Nyce K, Serrano de la Peña L, Overhauser J, Williams CJ (Oct 1999) Exclusion of the gene for human cartilage intermediate layer protein in currently mapped calcium pyrophosphate dihydrate deposition syndromes., Arthritis and rheumatism, 42 (10), 2139-44
- Andrew LJ, Brancolini V, de la Pena LS, Devoto M, Caeiro F, Marchegiani R, Reginato A, Gaucher A, Netter P, Gillet P, Loeuille D, Prockop DJ, Carr A, Wordsworth BF, Lathrop M, Butcher S, Considine E, Everts K, Nicod A, Walsh S, Williams CJ (Jan 1999) Refinement of the chromosome 5p locus for familial calcium pyrophosphate dihydrate deposition disease., American journal of human genetics, 64 (1), 136-45
- Bleasel JF, Holderbaum D, Brancolini V, Moskowitz RW, Considine EL, Prockop DJ, Devoto M, Williams CJ (1998) Five families with arginine 519-cysteine mutation in COL2A1: evidence for three distinct founders., Human mutation, 12 (3), 172-6
- Tromp G, Kuivaniemi H, Raphael S, Ala-Kokko L, Christiano A, Considine E, Dhulipala R, Hyland J, Jokinen A, Kivirikko S, Korn R, Madhatheri S, McCarron S, Pulkkinen L, Punnett H, Shimoya K, Spotila L, Tate A, Williams CJ (Nov 1996) Genetic linkage of familial granulomatous inflammatory arthritis, skin rash, and uveitis to chromosome 16., American journal of human genetics, 59 (5), 1097-107
- Considine RV, Considine EL, Williams CJ, Hyde TM, Caro JF (Jul 1996) The hypothalamic leptin receptor in humans: identification of incidental sequence polymorphisms and absence of the db/db mouse and fa/fa rat mutations., Diabetes, 45 (7), 992-4
- Williams CJ, Ganguly A, Considine E, McCarron S, Prockop DJ, Walsh-Vockley C, Michels VV (Jun 1996) A-2-->G transition at the 3' acceptor splice site of IVS17 characterizes the COL2A1 gene mutation in the original Stickler syndrome kindred., American journal of medical genetics, 63 (3), 461-7
- Bleasel JF, Holderbaum D, Brancolini V, Moskowitz RW, Haqqi TM, Considine E, Prockop DJ, Devoto M, Williams CJ (Jun 1996) Arg519-Cys mutation in COL2A1: evidence for multiple founders., Annals of the New York Academy of Sciences, 785, 215-8
- Meulenbelt I, Williams CJ, Te Koppele JM, Van de Giessen GC, Slagboom PE (May 1996) Population haplotype analysis and evolutionary relations of the COL2A1 gene., Annals of human genetics, 60 (Pt 3), 189-99
- Considine RV, Considine EL, Williams CJ, Nyce MR, Zhang P, Opentanova I, Ohannesian JP, Kolaczynski JW, Bauer TL, Moore JH, Caro JF (Mar 1996) Mutation screening and identification of a sequence variation in the human ob gene coding region., Biochemical and biophysical research communications, 220 (3), 735-9
- Considine RV, Considine EL, Williams CJ, Nyce MR, Magosin SA, Bauer TL, Rosato EL, Colberg J, Caro JF (Jun 1995) Evidence against either a premature stop codon or the absence of obese gene mRNA in human obesity., The Journal of clinical investigation, 95 (6), 2986-8
- Williams CJ, Rock M, Considine E, McCarron S, Gow P, Ladda R, McLain D, Michels VM, Murphy W, Prockop DJ (Feb 1995) Three new point mutations in type II procollagen (COL2A1) and identification of a fourth family with the COL2A1 Arg519-->Cys base substitution using conformation sensitive gel electrophoresis., Human molecular genetics, 4 (2), 309-12
- Williams CJ, Jimenez SA (Feb 1995) Heritable diseases of cartilage caused by mutations in collagen genes., The Journal of rheumatology. Supplement, 43, 28-33
- Reginato AJ, Passano GM, Neumann G, Falasca GF, Diaz-Valdez M, Jimenez SA, Williams CJ (Jul 1994) Familial spondyloepiphyseal dysplasia tarda, brachydactyly, and precocious osteoarthritis associated with an arginine 75-->cysteine mutation in the procollagen type II gene in a kindred of Chiloe Islanders. I. Clinical, radiographic, and pathologic findin, Arthritis and rheumatism, 37 (7), 1078-86
- Ritvaniemi P, Sokolov BP, Williams CJ, Considine E, Yurgenev L, Meerson EM, Ala-Kokko L, Prockop DJ (1994) A single base mutation in the type II procollagen gene (COL2A1) that converts glycine alpha 1-247 to serine in a family with late-onset spondyloepiphyseal dysplasia., Human mutation, 3 (3), 261-7
- Williams CJ, Considine EL, Knowlton RG, Reginato A, Neumann G, Harrison D, Buxton P, Jimenez S, Prockop DJ (Nov 1993) Spondyloepiphyseal dysplasia and precocious osteoarthritis in a family with an Arg75-->Cys mutation in the procollagen type II gene (COL2A1)., Human genetics, 92 (5), 499-505
- Williams CJ, Jimenez SA (Aug 1993) Heredity, genes and osteoarthritis., Rheumatic diseases clinics of North America, 19 (3), 523-43
- Ura Y, Dion AS, Williams CJ, Olsen BD, Redfield ES, Ishida M, Herlyn M, Major PP (Jan 1992) Quantitative dot blot analyses of blood-group-related antigens in paired normal and malignant human breast tissues., International journal of cancer. Journal international du cancer, 50 (1), 57-63
- Williams CJ, Dion AS, Carten J, Buehring GC (1992) Epithelial membrane antigen expression in breast fluids and 'witch's milk'., Breast cancer research and treatment, 21 (3), 211-6
- Williams CJ, Harrison DA, Hopkinson I, Baldwin CT, Ahmad NN, Ala-Kokko L, Korn RM, Buxton PG, Dimascio J, Considine EL (1992) Detection of sequence variants in the gene for human type II procollagen (COL2A1) by direct sequencing of polymerase chain reaction-amplified genomic DNA., Human mutation, 1 (5), 403-16
- Dion AS, Smorodinsky NI, Williams CJ, Wreschner DH, Major PP, Keydar I (Oct 1991) Recognition of peptidyl epitopes by polymorphic epithelial mucin (PEM)-specific monoclonal antibodies., Hybridoma, 10 (5), 595-610
- Dion AS, Williams CJ, Herlyn M, Major P (Oct 1990) Human milk fat globule membrane glycoproteins express blood group-related determinants primarily on mucin-like epithelial membrane antigens and gp70., Biochemistry international, 22 (2), 295-302
- Williams CJ, Wreschner DH, Tanaka A, Tsarfaty I, Keydar I, Dion AS (Aug 1990) Multiple protein forms of the human breast tumor-associated epithelial membrane antigen (EMA) are generated by alternative splicing and induced by hormonal stimulation., Biochemical and biophysical research communications, 170 (3), 1331-8
- Major PP, Dion AS, Williams CJ, Mattes MJ, Wang T, Rosenthall L (Feb 1990) Breast tumor radioimmunodetection with a 111In-labeled monoclonal antibody (MA5) against a mucin-like antigen., Cancer research, 50 (3 Suppl), 927s-931s
- Williams CJ, Major PP, Dion AS (1990) Enhanced expression and secretion of an epithelial membrane antigen (MA5) in a human mucinous breast tumor line (BT549)., Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine, 11 (3), 145-57
- Jimenez SA, Williams CJ, Myers JC, Bashey RI (Jan 1986) Increased collagen biosynthesis and increased expression of type I and type III procollagen genes in tight skin (TSK) mouse fibroblasts., The Journal of biological chemistry, 261 (2), 657-62
- Chu ML, Gargiulo V, Williams CJ, Ramirez F (Jan 1985) Multiexon deletion in an osteogenesis imperfecta variant with increased type III collagen mRNA., The Journal of biological chemistry, 260 (2), 691-4
- Williams CJ, Prockop DJ (May 1983) Synthesis and processing of a type I procollagen containing shortened pro-alpha 1(I) chains by fibroblasts from a patient with osteogenesis imperfecta., The Journal of biological chemistry, 258 (9), 5915-21
- Dion AS, Farwell DC, Pomenti AA, Williams CJ (Jul 1979) Characterization of purified structural proteins of murine mammary tumor virus., Virology, 96 (1), 319-22
- Zachrau RE, Black MM, Dion AS, Shore B, Williams CJ, Leis HP (Oct 1978) Specificity of the simultaneous cell-mediated immune reactivity to RIII murine mammary tumor virus glycoprotein 55 and human breast cancer tissues., Cancer research, 38 (10), 3414-20
- Dion AS, Williams CJ, Pomenti AA (Sep 1977) The major structural proteins of murine mammary tumor virus: techniques for isolation., Analytical biochemistry, 82 (1), 18-28
- Dion AS, Williams CJ, Moore DH (Apr 1977) RNase H and RNA-directed DNA polymerase: associated enzymatic activities of murine mammary tumor virus., Journal of virology, 22 (1), 187-93
- Black MM, Zachrau RE, Dion AS, Shore B, Fine DL, Leis HP, Williams CJ (Nov 1976) Cellular hypersensitivity of gp55 of RIII-murine mammary tumor virus and gp55-like protein of human breast cancers., Cancer research, 36 (11 Pt 1), 4137-42
- Chu ML, Williams CJ, Pepe G, Hirsch JL, Prockop DJ, Ramirez F, Internal deletion in a collagen gene in a perinatal lethal form of osteogenesis imperfecta., Nature, 304 (5921), 78-80
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Individual Expertise profile of
Charlene J. Williams, Ph.D., Copyright © Charlene J. Williams, Ph.D..
Last Updated
by Charlene Williams, Ph.D. : Monday, October 12, 2009 4:51:05 PM
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