Genomes and Genes
Carol A Wise
Affiliation: Texas Scottish Rite Hospital for Children
- Clinical, Molecular, and Genetic Characteristics of PAPA Syndrome: A ReviewElisabeth 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...
- Understanding genetic factors in idiopathic scoliosis, a complex disease of childhoodCarol 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...
- TDT-HET: a new transmission disequilibrium test that incorporates locus heterogeneity into the analysis of family-based association dataDouglas 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...
- Common polymorphisms in human lysyl oxidase genes are not associated with the adolescent idiopathic scoliosis phenotypeTracy 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...
- Mutations in CD2BP1 disrupt binding to PTP PEST and are responsible for PAPA syndrome, an autoinflammatory disorderCarol 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...
- Familial osteofibrous dysplasia. A case seriesLori 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
- A PAX1 enhancer locus is associated with susceptibility to idiopathic scoliosis in femalesSwarkar 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. ..
- Genome-wide association studies of adolescent idiopathic scoliosis suggest candidate susceptibility genesSwarkar 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...
- 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...
- Pyrin binds the PSTPIP1/CD2BP1 protein, defining familial Mediterranean fever and PAPA syndrome as disorders in the same pathwayNitza 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....
- Positional cloning strategies for idiopathic scoliosisStavros 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...
- SNTG1, the gene encoding gamma1-syntrophin: a candidate gene for idiopathic scoliosisStavros 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...
- A family-based likelihood ratio test for general pedigree structures that allows for genotyping error and missing dataYang 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...