BRENDAN HL LEE

Summary

Affiliation: Texas Medical Center
Country: USA

Publications

  1. ncbi request reprint Missense mutations abolishing DNA binding of the osteoblast-specific transcription factor OSF2/CBFA1 in cleidocranial dysplasia
    B Lee
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Nat Genet 16:307-10. 1997
  2. ncbi request reprint Multiple ganglion cysts ('cystic ganglionosis'): an unusual presentation in a child
    M Shinawi
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Scand J Rheumatol 36:145-8. 2007
  3. ncbi request reprint Considerations in the difficult-to-manage urea cycle disorder patient
    Brendan Lee
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA
    Crit Care Clin 21:S19-25. 2005
  4. pmc Characterization of a new syndrome that associates craniosynostosis, delayed fontanel closure, parietal foramina, imperforate anus, and skin eruption: CDAGS
    Roberto Mendoza-Londono
    Department of Human and Molecular Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Am J Hum Genet 77:161-8. 2005
  5. pmc Phase 2 comparison of a novel ammonia scavenging agent with sodium phenylbutyrate in patients with urea cycle disorders: safety, pharmacokinetics and ammonia control
    Brendan Lee
    Baylor College of Medicine, Houston, TX, USA
    Mol Genet Metab 100:221-8. 2010
  6. pmc In vivo urea cycle flux distinguishes and correlates with phenotypic severity in disorders of the urea cycle
    B Lee
    Departments of Molecular and Human Genetics and Pediatrics and Children s Nutrition Research Center, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA
    Proc Natl Acad Sci U S A 97:8021-6. 2000
  7. pmc Hepatocyte gene therapy in a large animal: a neonatal bovine model of citrullinemia
    B Lee
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Proc Natl Acad Sci U S A 96:3981-6. 1999
  8. ncbi request reprint CBFA1 mutation analysis and functional correlation with phenotypic variability in cleidocranial dysplasia
    G Zhou
    Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, BCM225, 630E, Houston, TX 77030, USA
    Hum Mol Genet 8:2311-6. 1999
  9. ncbi request reprint Trisomy 16q in a female newborn with a de novo X;16 translocation and hypoplastic left heart
    C A Bacino
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Am J Med Genet 82:128-31. 1999
  10. ncbi request reprint Long-term correction of urea cycle disorders
    B Lee
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    J Pediatr 138:S62-71. 2001

Collaborators

Detail Information

Publications20

  1. ncbi request reprint Missense mutations abolishing DNA binding of the osteoblast-specific transcription factor OSF2/CBFA1 in cleidocranial dysplasia
    B Lee
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Nat Genet 16:307-10. 1997
    ..Thus, these results together suggest that CCD is produced by haploinsufficiency of OSF2/CBFA1 and provide direct genetic evidence that the phenotype is secondary to an alteration of osteoblast differentiation...
  2. ncbi request reprint Multiple ganglion cysts ('cystic ganglionosis'): an unusual presentation in a child
    M Shinawi
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Scand J Rheumatol 36:145-8. 2007
    ..The early onset of the disease, as well as the involvement of multiple and unusual sites, including the TMJ, implies a genetic susceptibility to these lesions that we refer to as 'cystic ganglionosis'...
  3. ncbi request reprint Considerations in the difficult-to-manage urea cycle disorder patient
    Brendan Lee
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA
    Crit Care Clin 21:S19-25. 2005
    ....
  4. pmc Characterization of a new syndrome that associates craniosynostosis, delayed fontanel closure, parietal foramina, imperforate anus, and skin eruption: CDAGS
    Roberto Mendoza-Londono
    Department of Human and Molecular Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Am J Hum Genet 77:161-8. 2005
    ..We hypothesize that the gene defect in this condition causes novel context-dependent dysregulation of multiple signaling pathways, including RUNX2, during osteoblast differentiation and craniofacial morphogenesis...
  5. pmc Phase 2 comparison of a novel ammonia scavenging agent with sodium phenylbutyrate in patients with urea cycle disorders: safety, pharmacokinetics and ammonia control
    Brendan Lee
    Baylor College of Medicine, Houston, TX, USA
    Mol Genet Metab 100:221-8. 2010
    ..This phase 2 study explored the hypothesis that GPB offers similar safety and ammonia control as NaPBA, which is currently approved as adjunctive therapy in the chronic management of UCDs, and examined correlates of 24-h blood ammonia...
  6. pmc In vivo urea cycle flux distinguishes and correlates with phenotypic severity in disorders of the urea cycle
    B Lee
    Departments of Molecular and Human Genetics and Pediatrics and Children s Nutrition Research Center, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA
    Proc Natl Acad Sci U S A 97:8021-6. 2000
    ..This stable isotope protocol provides a sensitive tool for evaluating the efficacy of therapeutic modalities and acts as an aid to the diagnosis and management of urea cycle patients...
  7. pmc Hepatocyte gene therapy in a large animal: a neonatal bovine model of citrullinemia
    B Lee
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Proc Natl Acad Sci U S A 96:3981-6. 1999
    ..These studies will be applicable to human trials of the treatment of this disorder and other related urea-cycle disorders...
  8. ncbi request reprint CBFA1 mutation analysis and functional correlation with phenotypic variability in cleidocranial dysplasia
    G Zhou
    Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, BCM225, 630E, Houston, TX 77030, USA
    Hum Mol Genet 8:2311-6. 1999
    ..Together these data show that variable loss of function due to alterations in the runt and PST domains of CBFA1 may give rise to clinical variability, including classic CCD, mild CCD and isolated primary dental anomalies...
  9. ncbi request reprint Trisomy 16q in a female newborn with a de novo X;16 translocation and hypoplastic left heart
    C A Bacino
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Am J Med Genet 82:128-31. 1999
    ..The studies revealed that the X chromosome material in the derivative chromosome was inactive while the chromosome 16 derived material in the derivative chromosome was early replicating and active in all cells studied...
  10. ncbi request reprint Long-term correction of urea cycle disorders
    B Lee
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    J Pediatr 138:S62-71. 2001
    ..Ultimately, the development of helper-dependent adenoviral vectors may offer the long-term expression and increased margin of safety necessary for adjunctive therapies...
  11. ncbi request reprint Helper-dependent adenoviral gene therapy mediates long-term correction of the clotting defect in the canine hemophilia A model
    W M McCormack
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    J Thromb Haemost 4:1218-25. 2006
    ..Adenoviral vector-mediated gene therapy might have potential for long-term correction of the monogenic disease hemophilia A...
  12. ncbi request reprint Antigen-specific tolerance of human alpha1-antitrypsin induced by helper-dependent adenovirus
    V Cerullo
    Department of Human and Molecular Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Hum Gene Ther 18:1215-24. 2007
    ....
  13. ncbi request reprint Transcriptional dysregulation in skeletal malformation syndromes
    P Hermanns
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Am J Med Genet 106:258-71. 2001
    ..Although this has been successful in a small group of skeletal dysplasias, the majority of transcriptional networks during skeletogenesis remain to be elucidated...
  14. ncbi request reprint Mutations in LMX1B cause abnormal skeletal patterning and renal dysplasia in nail patella syndrome
    S D Dreyer
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, USA
    Nat Genet 19:47-50. 1998
    ..Furthermore, we provide evidence for the first described mutations in a LIM-homeodomain protein which account for an inherited form of abnormal skeletal patterning and renal failure...
  15. ncbi request reprint Modulation of TNFalpha, a determinant of acute toxicity associated with systemic delivery of first-generation and helper-dependent adenoviral vectors
    V P Mane
    Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA
    Gene Ther 13:1272-80. 2006
    ..Our data indicate that the use of HDV, in combination with clinically approved TNFalpha immunomodulation, may represent an approach for improving the therapeutic index of Ad gene therapy for human clinical trials...
  16. ncbi request reprint Long-term stable correction of low-density lipoprotein receptor-deficient mice with a helper-dependent adenoviral vector expressing the very low-density lipoprotein receptor
    K Oka
    Department of Molecular and Cellular Biology, Baylor College of Medicine, Houston, TX 77030, USA
    Circulation 103:1274-81. 2001
    ..It produces long-term lowering of plasma cholesterol and prevents atherosclerosis development in LDLR-deficient mice. These data provide support for the feasibility and safety of this approach for therapy of human subjects...
  17. pmc Genetic factors in congenital diaphragmatic hernia
    A M Holder
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA
    Am J Hum Genet 80:825-45. 2007
    ....
  18. ncbi request reprint Limb and kidney defects in Lmx1b mutant mice suggest an involvement of LMX1B in human nail patella syndrome
    H Chen
    Department of Biochemistry and Molecular Biology, U T M D Anderson Cancer Center, Houston, USA
    Nat Genet 19:51-5. 1998
    ..Our results demonstrate an essential function for Lmx1b in mouse limb and kidney development and suggest that NPS might result from mutations in the human LMX1B gene...
  19. ncbi request reprint Regulation of glomerular basement membrane collagen expression by LMX1B contributes to renal disease in nail patella syndrome
    R Morello
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA
    Nat Genet 27:205-8. 2001
    ....
  20. ncbi request reprint A natural history of cleidocranial dysplasia
    S C Cooper
    Department of Obstetrics, Gynecology and Reproductive Sciences, University of Texas Houston Medical School, 6431 Fannin, Houston, TX 77030, USA
    Am J Med Genet 104:1-6. 2001
    ..Clinical recommendations based on the results of this study are included...

Research Grants29

  1. Dysregulation of 3-prolyl-hydroxylation in Human Skeletal Dysplasias
    Brendan Lee; Fiscal Year: 2007
    ..e., the in vivo phenotypic and biochemical consequences of dysregulation of the 3-prolyl-hydroxylation machinery. ..
  2. In vivo function and tolerance to Factor VIII variants
    Brendan Lee; Fiscal Year: 2009
    ....
  3. Transcriptional Regulation of Craniofacial Skeletogenesis
    Brendan Lee; Fiscal Year: 2009
    ....
  4. Dysregulation of 3-prolyl-hydroxylation in Human Skeletal Dysplasias
    BRENDAN HL LEE; Fiscal Year: 2010
    ..e., the in vivo phenotypic and biochemical consequences of dysregulation of the 3-prolyl-hydroxylation machinery. ..
  5. Argininosuccinate Lyase is an essential regulator of systemic nitric oxide produc
    BRENDAN HL LEE; Fiscal Year: 2010
    ..We will determine whether inhibiting ASL may be the most effective way for controlling NO production in diseases affecting the brain, heart, and pancreas. ..
  6. ENTERAL PRECURSORS FOR UREA SYNTHESIS IN HUMANS
    Brendan Lee; Fiscal Year: 2006
    ..In addition it is anticipated that the results will benef it other individuals who have compromised protein metabolism. ..
  7. TRANSCRIPTIONAL REGULATORS IN CHONDROGENESIS
    Brendan Lee; Fiscal Year: 2002
    ....
  8. Adenoviral hepatocyte gene therapy in Citrullinemia
    Brendan Lee; Fiscal Year: 2005
    ..The data from these studies would be widely applicable to gene replacement therapy in a host of intrinsic disorders of liver metabolism as well as deficiencies of secretory proteins. ..
  9. GENETIC & ENVIRONMENTAL DETERMINANTS OF CRANIOFACIAL DIS
    Brendan Lee; Fiscal Year: 2005
    ..Together, these studies will identify genes important in pathogenesis of human malformation and elucidate their modes of action in both cell autonomous and cell non-autonomous models mechanisms of development. ..
  10. In vivo function and tolerance to Factor VIII variants
    BRENDAN HL LEE; Fiscal Year: 2011
    ..abstract_text> ..