Carol A Wise

Summary

Affiliation: Texas Scottish Rite Hospital for Children
Country: USA

Publications

  1. pmc Clinical, Molecular, and Genetic Characteristics of PAPA Syndrome: A Review
    Elisabeth J Smith
    Sarah M and Charles E Seay Center for Musculoskeletal Research, Scottish Rite Hospital for Children, Dallas, Texas 75219
    Curr Genomics 11:519-27. 2010
  2. pmc Understanding genetic factors in idiopathic scoliosis, a complex disease of childhood
    Carol A Wise
    Seay Center for Musculoskeletal Research, Texas Scottish Rite Hospital for Children, Dallas, TX
    Curr Genomics 9:51-9. 2008
  3. pmc TDT-HET: a new transmission disequilibrium test that incorporates locus heterogeneity into the analysis of family-based association data
    Douglas Londono
    Department of Genetics and Human Genetics Institute, Rutgers, The State University of New Jersey, Piscataway, NJ 08854, USA
    BMC Bioinformatics 13:13. 2012
  4. pmc Common polymorphisms in human lysyl oxidase genes are not associated with the adolescent idiopathic scoliosis phenotype
    Tracy L McGregor
    Department of Pediatrics, Vanderbilt University School of Medicine, Nashville, TN 37232, USA
    BMC Med Genet 12:92. 2011
  5. ncbi request reprint Mutations in CD2BP1 disrupt binding to PTP PEST and are responsible for PAPA syndrome, an autoinflammatory disorder
    Carol A Wise
    Sarah M and Charles E Seay Center for Musculoskeletal Research, Texas Scottish Rite Hospital for Children, Dallas, TX, USA
    Hum Mol Genet 11:961-9. 2002
  6. ncbi request reprint Familial osteofibrous dysplasia. A case series
    Lori A Karol
    Department of Orthopaedic Surgery, Texas Scottish Rite Hospital for Children, 2222 Welborn, Dallas, TX 75219, USA
    J Bone Joint Surg Am 87:2297-307. 2005
  7. pmc A PAX1 enhancer locus is associated with susceptibility to idiopathic scoliosis in females
    Swarkar Sharma
    Sarah M and Charles E Seay Center for Musculoskeletal Research, Research Department, Texas Scottish Rite Hospital for Children, Dallas, Texas 75219, USA
    Nat Commun 6:6452. 2015
  8. pmc Genome-wide association studies of adolescent idiopathic scoliosis suggest candidate susceptibility genes
    Swarkar Sharma
    Seay Center for Musculoskeletal Research, Texas Scottish Rite Hospital for Children, Dallas, TX, USA
    Hum Mol Genet 20:1456-66. 2011
  9. ncbi request reprint Apoptotic gene analysis in idiopathic talipes equinovarus (clubfoot)
    Audrey R Ester
    University of Texas Health Science Center, Houston Graduate School of Biomedical Sciences, Houston, TX, USA
    Clin Orthop Relat Res 462:32-7. 2007
  10. pmc Pyrin binds the PSTPIP1/CD2BP1 protein, defining familial Mediterranean fever and PAPA syndrome as disorders in the same pathway
    Nitza G Shoham
    Genetics and Genomics Branch and Office of the Clinical Director, National Institute of Arthritis and Musculoskeletal and Skin Diseases, Bethesda, MD 20892, USA
    Proc Natl Acad Sci U S A 100:13501-6. 2003

Collaborators

  • Morio Matsumoto
  • Virginia Pascual
  • Matthew B Dobbs
  • Struan F A Grant
  • Douglas Londono
  • Lori A Karol
  • Atsushi Takahashi
  • D Gordon
  • N M Lindor
  • ANNE MARY BOWCOCK
  • Swarkar Sharma
  • Dongping Zhang
  • Xiaochong Gao
  • John A Herring
  • Stavros Bashiardes
  • Tracy L McGregor
  • Christina A Gurnett
  • Elisabeth J Smith
  • Yang Yang
  • Jose A Morcuende
  • Audrey R Ester
  • Geryl Wood
  • Daniel L Kastner
  • Nitza G Shoham
  • Michael Lovett
  • Rose Veile
  • Nobuhiro Kamiya
  • Kristen Mauldin
  • Ikuyo Kou
  • Dennis Burns
  • Nadav Ahituv
  • Walter L Eckalbar
  • Shiro Ikegawa
  • Reuel Cornelia
  • Karl K Murphy
  • Thomas M Morgan
  • Jessica T Frankel
  • Quan Zhen Li
  • January M Brandon
  • Shonn E Devroy
  • Kristen N Mauldin
  • Ramkumar Menon
  • Louis J Muglia
  • Hakon Hakonarson
  • John P Dormans
  • Ivona Aksentijevich
  • Lynda Bennett
  • Marilynn Punaro
  • Florence Allantaz
  • Stephen J Finch
  • Gayle Tyerman
  • Susan H Blanton
  • Jacqueline T Hecht
  • Lazlos Szappanos
  • Missy Allen
  • Keith M Hull
  • Elizabeth Mansfield
  • Michael Centola
  • Laszlo Szappanos

Detail Information

Publications13

  1. pmc Clinical, Molecular, and Genetic Characteristics of PAPA Syndrome: A Review
    Elisabeth J Smith
    Sarah M and Charles E Seay Center for Musculoskeletal Research, Scottish Rite Hospital for Children, Dallas, Texas 75219
    Curr Genomics 11:519-27. 2010
    ..This review summarizes the recent and rapidly accumulating knowledge on these molecular aspects of PAPA syndrome and related disorders...
  2. pmc Understanding genetic factors in idiopathic scoliosis, a complex disease of childhood
    Carol A Wise
    Seay Center for Musculoskeletal Research, Texas Scottish Rite Hospital for Children, Dallas, TX
    Curr Genomics 9:51-9. 2008
    ..Existing genetic data provide testable hypotheses regarding IS etiology, and also provide proof of principle for applying high-density genome-wide methods to finding susceptibility genes and disease modifiers...
  3. pmc TDT-HET: a new transmission disequilibrium test that incorporates locus heterogeneity into the analysis of family-based association data
    Douglas Londono
    Department of Genetics and Human Genetics Institute, Rutgers, The State University of New Jersey, Piscataway, NJ 08854, USA
    BMC Bioinformatics 13:13. 2012
    ..The purpose here is the development of a test that extends the classic transmission disequilibrium test (TDT) to one that accounts for locus heterogeneity...
  4. pmc Common polymorphisms in human lysyl oxidase genes are not associated with the adolescent idiopathic scoliosis phenotype
    Tracy L McGregor
    Department of Pediatrics, Vanderbilt University School of Medicine, Nashville, TN 37232, USA
    BMC Med Genet 12:92. 2011
    ..We hypothesized that common polymorphisms in the five human lysyl oxidase genes (LOX, LOXL1, LOXL2, LOXL3, and LOXL4) may be associated with the phenotype of adolescent idiopathic scoliosis...
  5. ncbi request reprint Mutations in CD2BP1 disrupt binding to PTP PEST and are responsible for PAPA syndrome, an autoinflammatory disorder
    Carol A Wise
    Sarah M and Charles E Seay Center for Musculoskeletal Research, Texas Scottish Rite Hospital for Children, Dallas, TX, USA
    Hum Mol Genet 11:961-9. 2002
    ..This CD2BP1-mediated biochemical pathway(s) may function in common inflammatory disorders with apparent etiological overlap, such as rheumatoid arthritis and inflammatory bowel disease...
  6. ncbi request reprint Familial osteofibrous dysplasia. A case series
    Lori A Karol
    Department of Orthopaedic Surgery, Texas Scottish Rite Hospital for Children, 2222 Welborn, Dallas, TX 75219, USA
    J Bone Joint Surg Am 87:2297-307. 2005
  7. pmc A PAX1 enhancer locus is associated with susceptibility to idiopathic scoliosis in females
    Swarkar Sharma
    Sarah M and Charles E Seay Center for Musculoskeletal Research, Research Department, Texas Scottish Rite Hospital for Children, Dallas, Texas 75219, USA
    Nat Commun 6:6452. 2015
    ..We thus identify a sexually dimorphic IS susceptibility locus, and propose the first functionally defined candidate mutations in an enhancer that may regulate expression in specific spinal cells. ..
  8. pmc Genome-wide association studies of adolescent idiopathic scoliosis suggest candidate susceptibility genes
    Swarkar Sharma
    Seay Center for Musculoskeletal Research, Texas Scottish Rite Hospital for Children, Dallas, TX, USA
    Hum Mol Genet 20:1456-66. 2011
    ..Our results suggest the relevance of axon guidance pathways in AIS susceptibility, although these findings require further study, particularly given the apparent genetic heterogeneity in this disease...
  9. ncbi request reprint Apoptotic gene analysis in idiopathic talipes equinovarus (clubfoot)
    Audrey R Ester
    University of Texas Health Science Center, Houston Graduate School of Biomedical Sciences, Houston, TX, USA
    Clin Orthop Relat Res 462:32-7. 2007
    ..Several haplotypes constructed from these SNPs displayed altered transmission. These data suggest genetic variation in apoptotic genes may play a role in development of idiopathic talipes equinovarus...
  10. pmc Pyrin binds the PSTPIP1/CD2BP1 protein, defining familial Mediterranean fever and PAPA syndrome as disorders in the same pathway
    Nitza G Shoham
    Genetics and Genomics Branch and Office of the Clinical Director, National Institute of Arthritis and Musculoskeletal and Skin Diseases, Bethesda, MD 20892, USA
    Proc Natl Acad Sci U S A 100:13501-6. 2003
    ....
  11. ncbi request reprint Positional cloning strategies for idiopathic scoliosis
    Stavros Bashiardes
    Department of Genetics, Washington University School of Iedicine, St Louis, AIO, USA
    Stud Health Technol Inform 91:86-9. 2002
    ..Our aim is to identify families segregating rare, highly penetrant loci. In the case described here the disorder appears to cosegregate with a chromosomal rearrangement...
  12. ncbi request reprint SNTG1, the gene encoding gamma1-syntrophin: a candidate gene for idiopathic scoliosis
    Stavros Bashiardes
    Department of Genetics, Washington University School of Medicine, St Louis, MO, USA
    Hum Genet 115:81-9. 2004
    ..The deletion was only observed in five out of these seven individuals. Thus, although genetic heterogeneity or multiple alleles cannot be ruled out, the 6-bp deletion does not consistently co-segregate with the disease in this family...
  13. doi request reprint A family-based likelihood ratio test for general pedigree structures that allows for genotyping error and missing data
    Yang Yang
    Department of Applied Mathematics and Statistics, Stony Brook University, Stony Brook, NY, USA
    Hum Hered 66:99-110. 2008
    ..For the IS data, the marker rs7843033 shows the most significant evidence for our method (p = 0.0003), which is consistent with a previous report, which found rs7843033 to be the 2nd most significant TDTae p value among a set of 23 SNPs...