Kit Sing Au

Summary

Affiliation: Texas Medical Center
Country: USA

Publications

  1. ncbi request reprint Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States
    Kit Sing Au
    Department of Pediatrics, The University of Texas Medical School at Houston, 77030, USA
    Genet Med 9:88-100. 2007
  2. pmc Folate metabolism gene 5,10-methylenetetrahydrofolate reductase (MTHFR) is associated with ADHD in myelomeningocele patients
    Catherine J Spellicy
    Department of Pediatrics, University of Texas Medical School at Houston, The University of Texas Health Science Center at Houston, Houston, Texas, United States of America
    PLoS ONE 7:e51330. 2012
  3. pmc Association of retinoic acid receptor genes with meningomyelocele
    Phong X Tran
    Department of Pediatrics, University of Texas Medical School at Houston, TX 77030, USA
    Birth Defects Res A Clin Mol Teratol 91:39-43. 2011
  4. pmc Genetic association study of putative functional single nucleotide polymorphisms of genes in folate metabolism and spina bifida
    Carla A Martinez
    Department of Obstetrics, Gynecology, and Reproductive Sciences, University of Texas Health Science Center, Houston, TX, USA
    Am J Obstet Gynecol 201:394.e1-11. 2009
  5. pmc Novel single nucleotide polymorphisms in the superoxide dismutase 1 and 2 genes among children with myelomeningocele
    Benjamin A Kase
    Department of Obstetrics, Gynecology, and Reproductive Sciences, The University of Texas Medical School at Houston, Houston, TX
    Am J Obstet Gynecol 209:388.e1-7. 2013
  6. pmc Association of folate receptor (FOLR1, FOLR2, FOLR3) and reduced folate carrier (SLC19A1) genes with meningomyelocele
    Michelle R O'Byrne
    Department of Pediatrics, The University of Texas Medical School at Houston, Houston, Texas 77030, USA
    Birth Defects Res A Clin Mol Teratol 88:689-94. 2010
  7. ncbi request reprint The impact of BRCA1 on spina bifida meningomyelocele lesions
    Terri M King
    The University of Texas Medical School at Houston, Department of Pediatrics, Division of Medical Genetics and Developmental Pediatrics, Houston, Texas 77030, USA
    Ann Hum Genet 71:719-28. 2007
  8. pmc Association of copper-zinc superoxide dismutase (SOD1) and manganese superoxide dismutase (SOD2) genes with nonsyndromic myelomeningocele
    Benjamin A Kase
    Department of Obstetrics, Gynecology and Reproductive Sciences, The University of Texas Medical School at Houston, Houston, TX 77030, USA
    Birth Defects Res A Clin Mol Teratol 94:762-9. 2012
  9. pmc Deep sequencing study of the MTHFR gene to identify variants associated with myelomeningocele
    Chiamaka N Aneji
    Neonatal Perinatal Medicine, Department of Pediatrics, University of Texas Houston Health Science Center, Houston, Texas, USA
    Birth Defects Res A Clin Mol Teratol 94:84-90. 2012
  10. pmc Genetic studies of the cystathionine beta-synthase gene and myelomeningocele
    Melissa M Tilley
    Division of Neonatal Perinatal Medicine, Department of Pediatrics The University of Texas Medical School at Houston, Houston, Texas 77030, USA
    Birth Defects Res A Clin Mol Teratol 94:52-6. 2012

Collaborators

Detail Information

Publications19

  1. ncbi request reprint Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States
    Kit Sing Au
    Department of Pediatrics, The University of Texas Medical School at Houston, 77030, USA
    Genet Med 9:88-100. 2007
    ..Male patients showed more frequent neurologic and eye symptoms, renal cysts, and ungual fibromas. Correlating genotypes with phenotypes should facilitate the disease management of tuberous sclerosis complex...
  2. pmc Folate metabolism gene 5,10-methylenetetrahydrofolate reductase (MTHFR) is associated with ADHD in myelomeningocele patients
    Catherine J Spellicy
    Department of Pediatrics, University of Texas Medical School at Houston, The University of Texas Health Science Center at Houston, Houston, Texas, United States of America
    PLoS ONE 7:e51330. 2012
    ..These data also indicate the potential importance of the MTHFR gene in the etiology of the ADHD phenotype...
  3. pmc Association of retinoic acid receptor genes with meningomyelocele
    Phong X Tran
    Department of Pediatrics, University of Texas Medical School at Houston, TX 77030, USA
    Birth Defects Res A Clin Mol Teratol 91:39-43. 2011
    ..MM has been induced by retinoic acid teratogenicity in rodent models. We hypothesized that genetic variants influencing retinoic acid (RA) induction via retinoic acid receptors (RARs) may be associated with risk for MM...
  4. pmc Genetic association study of putative functional single nucleotide polymorphisms of genes in folate metabolism and spina bifida
    Carla A Martinez
    Department of Obstetrics, Gynecology, and Reproductive Sciences, University of Texas Health Science Center, Houston, TX, USA
    Am J Obstet Gynecol 201:394.e1-11. 2009
    ..We tested putative functional single nucleotide polymorphisms (SNPs) in genes that regulate the folate/homocysteine metabolism pathway for their contribution to spina bifida (SB) susceptibility...
  5. pmc Novel single nucleotide polymorphisms in the superoxide dismutase 1 and 2 genes among children with myelomeningocele
    Benjamin A Kase
    Department of Obstetrics, Gynecology, and Reproductive Sciences, The University of Texas Medical School at Houston, Houston, TX
    Am J Obstet Gynecol 209:388.e1-7. 2013
    ..The current exploratory study sought to examine sequence variations in the superoxide dismutase 1 (SOD1) and 2 (SOD2) genes in patients with myelomeningocele and to identify variants altering risk for myelomeningocele...
  6. pmc Association of folate receptor (FOLR1, FOLR2, FOLR3) and reduced folate carrier (SLC19A1) genes with meningomyelocele
    Michelle R O'Byrne
    Department of Pediatrics, The University of Texas Medical School at Houston, Houston, Texas 77030, USA
    Birth Defects Res A Clin Mol Teratol 88:689-94. 2010
    ..Periconceptional folic acid supplementation is a modifier of MM risk in humans, leading toan interest in the folate transport genes as potential candidates for association to MM...
  7. ncbi request reprint The impact of BRCA1 on spina bifida meningomyelocele lesions
    Terri M King
    The University of Texas Medical School at Houston, Department of Pediatrics, Division of Medical Genetics and Developmental Pediatrics, Houston, Texas 77030, USA
    Ann Hum Genet 71:719-28. 2007
    ..Integrating our data with HapMap findings showed that the polymorphic markers are associated with distinct haplotypes. We conclude that the BRCA1 gene is associated with SBMM and participates in the phenotypic variability seen in SBMM...
  8. pmc Association of copper-zinc superoxide dismutase (SOD1) and manganese superoxide dismutase (SOD2) genes with nonsyndromic myelomeningocele
    Benjamin A Kase
    Department of Obstetrics, Gynecology and Reproductive Sciences, The University of Texas Medical School at Houston, Houston, TX 77030, USA
    Birth Defects Res A Clin Mol Teratol 94:762-9. 2012
    ..The exact mechanisms for NTDs are unknown, but excessive oxidative stress, particularly in association with maternal diabetes, has been postulated as a mechanism for MM...
  9. pmc Deep sequencing study of the MTHFR gene to identify variants associated with myelomeningocele
    Chiamaka N Aneji
    Neonatal Perinatal Medicine, Department of Pediatrics, University of Texas Houston Health Science Center, Houston, Texas, USA
    Birth Defects Res A Clin Mol Teratol 94:84-90. 2012
    ..Maternal preconceptional and periconceptional folate supplementation reduces the risk of NTDs by up to 70%. A key enzyme in folate metabolism is 5, 10-methylene-tetrahydrofolate reductase (MTHFR)...
  10. pmc Genetic studies of the cystathionine beta-synthase gene and myelomeningocele
    Melissa M Tilley
    Division of Neonatal Perinatal Medicine, Department of Pediatrics The University of Texas Medical School at Houston, Houston, Texas 77030, USA
    Birth Defects Res A Clin Mol Teratol 94:52-6. 2012
    ..The protective effect provided by FA suggests that the genes involved in folate metabolism, such as cystathionine beta-synthase (CBS), warrant further investigation...
  11. pmc Characteristics of a spina bifida population including North American Caucasian and Hispanic individuals
    Kit Sing Au
    Department of Pediatrics, The University of Texas Medical School at Houston, Houston, Texas 77030, USA
    Birth Defects Res A Clin Mol Teratol 82:692-700. 2008
    ..MM is a disorder of neural development caused by contributions from genes and environmental factors that result in the NTD and lead to a spectrum of physical and neurocognitive phenotypes...
  12. ncbi request reprint Molecular genetic basis of tuberous sclerosis complex: from bench to bedside
    Kit Sing Au
    Department of Pediatrics, Division of Medical Genetics, The University of Texas Medical School at Houston, Houston, TX 77030, USA
    J Child Neurol 19:699-709. 2004
    ..Emerging genotype-phenotype correlations should provide guidance for better medical care of individuals with tuberous sclerosis complex...
  13. pmc Epidemiologic and genetic aspects of spina bifida and other neural tube defects
    Kit Sing Au
    Division of Medical Genetics, Department of Pediatrics, The University of Texas, Medical School at Houston, Houston, Texas 77030, USA
    Dev Disabil Res Rev 16:6-15. 2010
    ..Future directions such as genomewide association studies (GWAS) and whole exome or even whole genome sequencing are discussed as possible avenues to identify genes that affect risk for human NTDs...
  14. pmc A 10 bp deletion polymorphism and 2 new variations in the GLUT1 gene associated with meningomyelocele
    Clint M Cormier
    Department of Obstetrics, Gynecology, and Reproductive Sciences, The University of Texas Medical School at Houston, Houston, TX, USA
    Reprod Sci 18:463-8. 2011
    ..02). The physiologic role of the 2 newly identified variants in the GLUT1 gene and the 10 bp deletion associated with risk of MM in Caucasian patients is under investigation...
  15. pmc Genes in glucose metabolism and association with spina bifida
    Christina M Davidson
    Department of Obstetrics, Gynecology and Reproductive Sciences, University of Texas Medical School at Houston, TX 77030, USA
    Reprod Sci 15:51-8. 2008
    ..019, .039, and .040, respectively). Three SNPs on 3 genes involved with glucose metabolism and obesity may be associated with increased susceptibility to spina bifida...
  16. pmc Copy number variation analysis implicates the cell polarity gene glypican 5 as a human spina bifida candidate gene
    Alexander G Bassuk
    Department of Pediatrics, University of Iowa Carver College of Medicine, University of Iowa, Iowa City, IA 52242, USA
    Hum Mol Genet 22:1097-111. 2013
    ..Here, we show that GPC5 orthologs are expressed in the neural tube, and that inhibiting their expression in frog and fish embryos results in NTDs. These results implicate GPC5 as a gene required for normal neural tube development...
  17. doi request reprint Tuberous sclerosis complex: disease modifiers and treatments
    Kit Sing Au
    Division of Medical Genetics, Department of Pediatrics, The University of Texas Medical School at Houston, Houston, Texas, USA
    Curr Opin Pediatr 20:628-33. 2008
    ..The severity of disease phenotypes of TSC patients is influenced by the activities of genes both up and down-stream in the associated pathways...
  18. pmc Mutational analysis of PHEX, FGF23 and DMP1 in a cohort of patients with hypophosphatemic rickets
    Mary D Ruppe
    Department of Medicine, University of Texas Health Science Center at Houston, TX 77030, USA
    Clin Endocrinol (Oxf) 74:312-8. 2011
    ..These three types of rickets are related to mutations in PHEX, FGF23 and dentin matrix protein 1 (DMP1), respectively...
  19. ncbi request reprint Identification of 54 large deletions/duplications in TSC1 and TSC2 using MLPA, and genotype-phenotype correlations
    Piotr Kozlowski
    Genetics Laboratory, Division of Translational Medicine, Department of Medicine, Brigham and Women s Hospital, Harvard Medical School, Boston, MA 02115, USA
    Hum Genet 121:389-400. 2007
    ..We conclude that large deletions in TSC1 and TSC2 account for about 0.5 and 6% of mutations seen in TSC patients, respectively, and MLPA is a highly sensitive and accurate detection method, including for mosaicism...