Cornelius F Boerkoel

Summary

Affiliation: Texas Medical Center
Country: USA

Publications

  1. ncbi Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia
    Cornelius F Boerkoel
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Nat Genet 30:215-20. 2002
  2. doi Neurologic phenotype of Schimke immuno-osseous dysplasia and neurodevelopmental expression of SMARCAL1
    Kimiko Deguchi
    Department of Pathology, Baylor College of Medicine, Houston, Texas, USA
    J Neuropathol Exp Neurol 67:565-77. 2008
  3. ncbi CMT4A: identification of a Hispanic GDAP1 founder mutation
    Cornelius F Boerkoel
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Ann Neurol 53:400-5. 2003
  4. ncbi Schimke immunoosseous dysplasia: suggestions of genetic diversity
    J Marietta Clewing
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA
    Hum Mutat 28:273-83. 2007
  5. ncbi Congenital hypomyelinating neuropathy, central dysmyelination, and Waardenburg-Hirschsprung disease: phenotypes linked by SOX10 mutation
    Ken Inoue
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA
    Ann Neurol 52:836-42. 2002
  6. ncbi Mutation of TDP1, encoding a topoisomerase I-dependent DNA damage repair enzyme, in spinocerebellar ataxia with axonal neuropathy
    Hiroshi Takashima
    Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, Texas 77030, USA
    Nat Genet 32:267-72. 2002
  7. ncbi Periaxin mutations cause a broad spectrum of demyelinating neuropathies
    Hiroshi Takashima
    Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA
    Ann Neurol 51:709-15. 2002
  8. ncbi Schimke immuno-osseous dysplasia: a cell autonomous disorder?
    Leah I Elizondo
    Interdepartmental Program in Cell and Molecular Biology, Baylor College of Medicine, One Baylor Plaza, Houston, Texas 77030, USA
    Am J Med Genet A 140:340-8. 2006
  9. ncbi Gray matter heterotopias and brachytelephalangic chondrodysplasia punctata: a complication of hyperemesis gravidarum induced vitamin K deficiency?
    Nicola Brunetti-Pierri
    Departments of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA
    Am J Med Genet A 143:200-4. 2007
  10. ncbi The genetic convergence of Charcot-Marie-Tooth disease types 1 and 2 and the role of genetics in sporadic neuropathy
    Cornelius F Boerkoel
    Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Room 604B, Houston, TX 77030, USA
    Curr Neurol Neurosci Rep 2:70-7. 2002

Collaborators

Detail Information

Publications22

  1. ncbi Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia
    Cornelius F Boerkoel
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Nat Genet 30:215-20. 2002
    ..These observations indicate that some missense mutations allow retention of partial SMARCAL1 function and thus cause milder disease...
  2. doi Neurologic phenotype of Schimke immuno-osseous dysplasia and neurodevelopmental expression of SMARCAL1
    Kimiko Deguchi
    Department of Pathology, Baylor College of Medicine, Houston, Texas, USA
    J Neuropathol Exp Neurol 67:565-77. 2008
    ..These observations suggest that SMARCAL1 deficiency may influence brain development and function in addition to its previously recognized effect on cerebral circulation...
  3. ncbi CMT4A: identification of a Hispanic GDAP1 founder mutation
    Cornelius F Boerkoel
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Ann Neurol 53:400-5. 2003
    ..Neuropathology showed loss of large myelinated fibers, onion bulb formations and focal folding of the outer myelin lamina...
  4. ncbi Schimke immunoosseous dysplasia: suggestions of genetic diversity
    J Marietta Clewing
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA
    Hum Mutat 28:273-83. 2007
    ..This is the first evidence for nonallelic heterogeneity in SIOD. From analysis of the postmortem histopathology from two patients and the clinical data from most patients, we propose the existence of endophenotypes of SIOD...
  5. ncbi Congenital hypomyelinating neuropathy, central dysmyelination, and Waardenburg-Hirschsprung disease: phenotypes linked by SOX10 mutation
    Ken Inoue
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA
    Ann Neurol 52:836-42. 2002
    ..In contrast with the SOX10 loss-of-function mutations causing only WS4, mutations associated with both peripheral and central dysmyelination may affect pathology through a dominant-negative mechanism...
  6. ncbi Mutation of TDP1, encoding a topoisomerase I-dependent DNA damage repair enzyme, in spinocerebellar ataxia with axonal neuropathy
    Hiroshi Takashima
    Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, Texas 77030, USA
    Nat Genet 32:267-72. 2002
    ..We propose that loss-of-function mutations in TDP1 may cause SCAN1 either by interfering with DNA transcription or by inducing apoptosis in postmitotic neurons...
  7. ncbi Periaxin mutations cause a broad spectrum of demyelinating neuropathies
    Hiroshi Takashima
    Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA
    Ann Neurol 51:709-15. 2002
    ..Our study indicates a prominent sensory neuropathy resulting from periaxin gene mutations and suggests a role for the carboxyl terminal domain of the periaxin protein...
  8. ncbi Schimke immuno-osseous dysplasia: a cell autonomous disorder?
    Leah I Elizondo
    Interdepartmental Program in Cell and Molecular Biology, Baylor College of Medicine, One Baylor Plaza, Houston, Texas 77030, USA
    Am J Med Genet A 140:340-8. 2006
    ..The expression of Smarcal1 in affected tissues and the non-recurrence of disease in grafted organs lead us to hypothesize a cell autonomous function for SMARCAL1 and to propose tissue-specific mechanisms for the pathophysiology of SIOD...
  9. ncbi Gray matter heterotopias and brachytelephalangic chondrodysplasia punctata: a complication of hyperemesis gravidarum induced vitamin K deficiency?
    Nicola Brunetti-Pierri
    Departments of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA
    Am J Med Genet A 143:200-4. 2007
  10. ncbi The genetic convergence of Charcot-Marie-Tooth disease types 1 and 2 and the role of genetics in sporadic neuropathy
    Cornelius F Boerkoel
    Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Room 604B, Houston, TX 77030, USA
    Curr Neurol Neurosci Rep 2:70-7. 2002
    ..Because of this observation, we propose that molecular diagnosis is a necessary adjunct for differentiating genetic and acquired peripheral neuropathies, even in sporadic chronic neuropathy...
  11. ncbi Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation
    Cornelius F Boerkoel
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA
    Ann Neurol 51:190-201. 2002
    ....
  12. doi Phenotypic expansion of TBX4 mutations to include acinar dysplasia of the lungs
    Przemyslaw Szafranski
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas
    Am J Med Genet A 170:2440-4. 2016
    ..The reported mutation is the first identified genetic variant causative for acinar dysplasia. © 2016 Wiley Periodicals, Inc. ..
  13. ncbi Advances in chromatin remodeling and human disease
    Kyoung Sang Cho
    Department of Molecular and Human Genetics and Interdepartmental Program in Cell and Molecular Biology, Baylor College of Medicine, One Baylor Plaza, Room S434, Houston, Texas 77030, USA
    Curr Opin Genet Dev 14:308-15. 2004
    ..Insights from these diseases suggest that during embryonic and fetal life, environmental distortions of chromatin remodeling encode a 'molecular memory' that predispose the individual to diseases in adulthood...
  14. pmc Genes in a refined Smith-Magenis syndrome critical deletion interval on chromosome 17p11.2 and the syntenic region of the mouse
    Weimin Bi
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Genome Res 12:713-28. 2002
    ..Our findings will facilitate both the identification of gene(s) responsible for the SMS phenotype and the engineering of an SMS mouse model...
  15. ncbi Schimke-immuno-osseous dysplasia: new mutation with weak genotype-phenotype correlation in siblings
    Thomas Lücke
    Department of Pediatrics, Hannover Medical School, Hannover, Germany
    Am J Med Genet A 135:202-5. 2005
    ..Neither clinical nor molecular findings can fully predict the clinical course of SIOD...
  16. pmc Clinical and genetic distinction of Schimke immuno-osseous dysplasia and cartilage-hair hypoplasia
    Alireza Baradaran-Heravi
    Centre for Molecular Medicine and Therapeutics, Child and Family Research Institute, Department of Medical Genetics, University of British Columbia, Vancouver, Canada
    Am J Med Genet A 146:2013-7. 2008
  17. ncbi Schimke versus non-Schimke chronic kidney disease: an anthropometric approach
    Thomas Lücke
    Department of Pediatrics, Hannover Medical School, Carl Neuberg Strasse 1, D 30623 Hannover, Germany
    Pediatrics 118:e400-7. 2006
    ..Schimke-immuno-osseous dysplasia is very likely if this ratio is < 0.83. However, other forms of chronic kidney disease have to be discussed in case of a ratio > 1.01...
  18. ncbi Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alström syndrome
    Gayle B Collin
    The Jackson Laboratory, 600 Main Street, Bar Harbor, Maine 04609, USA
    Nat Genet 31:74-8. 2002
    ..The identification of ALMS1 provides an entry point into a new pathway leading toward the understanding of both Alström syndrome and the common diseases that characterize it...
  19. pmc Spinocerebellar ataxia with axonal neuropathy: consequence of a Tdp1 recessive neomorphic mutation?
    Ryuki Hirano
    Centre for Molecular Medicine and Therapeutics, Child and Family Research Institute, University of British Columbia, Vancouver, British Columbia, Canada
    EMBO J 26:4732-43. 2007
    ..This is a novel mechanism for disease since neomorphic mutations are generally dominant...
  20. ncbi Cerebellar atrophy in Schimke-immuno-osseous dysplasia
    Thomas Lücke
    Department of Pediatrics, Hannover Medical School, Hannover, Germany
    Am J Med Genet A 143:2040-5. 2007
    ..We hypothesize that these cerebellar abnormalities are a continuum of the ongoing vascular disease in severe SIOD...
  21. ncbi Fatal lymphoproliferative disorder in a child with Schimke immuno-osseous dysplasia
    Doris Taha
    Department of Pediatrics, King Faisal Specialist Hospital and Research Centre Jeddah, Jeddah, Saudi Arabia
    Am J Med Genet A 131:194-9. 2004
    ..To our knowledge, this is the first report of an SIOD patient with a primary lymphoproliferative disorder (LPD)...
  22. ncbi Association of migraine-like headaches with Schimke immuno-osseous dysplasia
    Sara Sebnem Kilic
    Department of Pediatrics, Division of Immunology, Uludag University Medical Faculty, Gorukle Bursa, Turkey
    Am J Med Genet A 135:206-10. 2005
    ..We hypothesize that these headaches may arise from an intrinsic vascular, neuroimmune, or neurovascular defect resulting from loss of SMARCAL1 function...