A novel mutation in the proteoglycan 4 gene causing CACP syndrome: two sisters report

[1]  Celal Varan,et al.  Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome Resembling Juvenile Idiopathic Arthritis: A Single-Center Experience from Southern Turkey , 2021, Molecular Syndromology.

[2]  N. Kakkar,et al.  Syndrome of progressive deforming non-inflammatory arthritis of childhood: two patients of camptodactyly-arthropathy-coxa vara-pericarditis syndrome , 2020, Rheumatology International.

[3]  Mark W. Youngblood,et al.  Genotype–phenotype investigation of 35 patients from 11 unrelated families with camptodactyly–arthropathy–coxa vara–pericarditis (CACP) syndrome , 2018, Molecular genetics & genomic medicine.

[4]  S. Al‐Mayouf,et al.  The Efficacy of Yttrium-90 Radiosynovectomy in Patients with Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome , 2017, Molecular imaging and radionuclide therapy.

[5]  J. Schuurs-Hoeijmakers,et al.  Protein-losing enteropathy in camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome , 2016, Pediatric Rheumatology.

[6]  L. Ward,et al.  The management of osteoporosis in children , 2016, Osteoporosis International.

[7]  A. Dalal,et al.  Brothers with constrictive pericarditis – A novel mutation in a rare disease , 2016, Indian heart journal.

[8]  G. Jay,et al.  The interaction of lubricin/proteoglycan 4 (PRG4) with toll-like receptors 2 and 4: an anti-inflammatory role of PRG4 in synovial fluid , 2015, Arthritis Research & Therapy.

[9]  S. Phadke,et al.  Novel mutations in PRG4 gene in two Indian families with camptodactyly-arthropathy- coxa vara- pericarditis (CACP) syndrome , 2014, The Indian journal of medical research.

[10]  R. Cate,et al.  CACP syndrome: identification of five novel mutations and of the first case of UPD in the largest European cohort , 2013, European Journal of Human Genetics.

[11]  S. Al‐Mayouf,et al.  Camptodactyly-arthropathy-coxavara-pericarditis syndrome in Saudi Arabia: clinical and molecular genetic findings in 22 patients. , 2013, Seminars in arthritis and rheumatism.

[12]  A. Urquhart,et al.  Total hip arthroplasty in adolescents with severe hip arthropathy and dysplasia associated with camptodactyly-arthropathy-coxa vara-pericarditis syndrome. , 2012, The Journal of arthroplasty.

[13]  L. Al-Gazali,et al.  A novel mutation in PRG4 gene underlying camptodactyly-arthropathy-coxa vara-pericarditis syndrome with the possible expansion of the phenotype to include congenital cataract. , 2012, Birth defects research. Part A, Clinical and molecular teratology.

[14]  S. Basit,et al.  A novel deletion mutation in proteoglycan-4 underlies camptodactyly-arthropathy-coxa-vara-pericarditis syndrome in a consanguineous pakistani family. , 2011, Archives of medical research.

[15]  Jason P. Gleghorn,et al.  Prevention of cartilage degeneration in a rat model of osteoarthritis by intraarticular treatment with recombinant lubricin. , 2009, Arthritis and rheumatism.

[16]  M. Elmantaser,et al.  Secondary osteoporosis. , 2009, Endocrine development.

[17]  K. S. Breuer,et al.  The role of lubricin in the mechanical behavior of synovial fluid , 2007, Proceedings of the National Academy of Sciences.

[18]  A. Alazami,et al.  Novel PRG4 mutations underlie CACP in Saudi families , 2006, Human mutation.

[19]  A. Offiah,et al.  Camptodactyly-arthropathy-coxa vara-pericarditis syndrome versus juvenile idiopathic arthropathy. , 2005, AJR. American journal of roentgenology.

[20]  Véronique Lefebvre,et al.  The secreted glycoprotein lubricin protects cartilage surfaces and inhibits synovial cell overgrowth. , 2005, The Journal of clinical investigation.

[21]  A. Al-Dalaan,et al.  Radiological features in congenital camptodactyly, familial arthropathy and coxa vara syndrome , 2005, Pediatric Radiology.

[22]  Hilde van der Togt,et al.  Publisher's Note , 2003, J. Netw. Comput. Appl..

[23]  Y. Nakamura,et al.  Isolation, characterization and mapping of the mouse and human PRG4 (proteoglycan 4) genes , 2000, Cytogenetic and Genome Research.

[24]  S. Schwartz,et al.  CACP, encoding a secreted proteoglycan, is mutated in camptodactyly-arthropathy-coxa vara-pericarditis syndrome , 1999, Nature Genetics.

[25]  M. Warman,et al.  The camptodactyly-arthropathy-coxa vara-pericarditis syndrome: clinical features and genetic mapping to human chromosome 1. , 1998, Arthritis and rheumatism.

[26]  H. Yazici,et al.  A familial syndrome of pericarditis, arthritis, camptodactyly, and coxa vara. , 1986, Arthritis and rheumatism.

[27]  R. Laxer,et al.  The camptodactyly-arthropathy-pericarditis syndrome: case report and literature review. , 1986, Arthritis and rheumatism.