Simeon A Boyadjiev

Summary

Affiliation: Johns Hopkins University
Country: USA

Publications

  1. ncbi request reprint A novel dysmorphic syndrome with open calvarial sutures and sutural cataracts maps to chromosome 14q13-q21
    Simeon A Boyadjiev
    McKusick Nathans Institute of Genetic Medicine, Center for Craniofacial Development and Disorders, Department of Pediatrics, The Johns Hopkins University School of Medicine, MD 21287 3914, Baltimore, USA
    Hum Genet 113:1-9. 2003
  2. ncbi request reprint Clinical and molecular characterization of the bladder exstrophy-epispadias complex: analysis of 232 families
    Simeon A Boyadjiev
    McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltmore, MA, USA
    BJU Int 94:1337-43. 2004
  3. ncbi request reprint A reciprocal translocation 46,XY,t(8;9)(p11.2;q13) in a bladder exstrophy patient disrupts CNTNAP3 and presents evidence of a pericentromeric duplication on chromosome 9
    Simeon A Boyadjiev
    McKusick Nathans Institute of Genetic Medicine, The Johns Hopkins University School of Medicine, 733 N Broadway, BRB 469, Baltimore, MD 21205, USA
    Genomics 85:622-9. 2005
  4. pmc The [corrected] SEC23-SEC31 [corrected] interface plays critical role for export of procollagen from the endoplasmic reticulum
    Sun Don Kim
    Section of Genetics, Department of Pediatrics, University of California Davis Medical Center, Sacramento, California 95817, USA
    J Biol Chem 287:10134-44. 2012
  5. ncbi request reprint Cranio-lenticulo-sutural dysplasia is caused by a SEC23A mutation leading to abnormal endoplasmic-reticulum-to-Golgi trafficking
    Simeon A Boyadjiev
    McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, USA
    Nat Genet 38:1192-7. 2006
  6. doi request reprint Cranio-lenticulo-sutural dysplasia associated with defects in collagen secretion
    Simeon A Boyadjiev
    Section of Genetics, Department of Pediatrics, University of California Davis Medical Center, Sacramento, CA, USA
    Clin Genet 80:169-76. 2011
  7. pmc A genome-wide association study identifies susceptibility loci for nonsyndromic sagittal craniosynostosis near BMP2 and within BBS9
    Cristina M Justice
    Genometrics Section, Inherited Disease Research Branch, Division of Intramural Research, National Human Genome Research Institute, US National Institutes of Health NIH, Baltimore, MD, USA
    Nat Genet 44:1360-4. 2012
  8. pmc Leucine-rich repeat, immunoglobulin-like and transmembrane domain 3 (LRIT3) is a modulator of FGFR1
    Sun Don Kim
    Section of Genetics, Department of Pediatrics, University of California Davis Medical Center, Sacramento, CA 95817, USA
    FEBS Lett 586:1516-21. 2012
  9. doi request reprint Genetic predisposition to natural rubber latex allergy differs between health care workers and high-risk patients
    Constance L Monitto
    Department of Anesthesiology and Critical Care Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA
    Anesth Analg 110:1310-7. 2010
  10. ncbi request reprint A novel MGP mutation in a consanguineous family: review of the clinical and molecular characteristics of Keutel syndrome
    David J Hur
    McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA
    Am J Med Genet A 135:36-40. 2005

Collaborators

Detail Information

Publications18

  1. ncbi request reprint A novel dysmorphic syndrome with open calvarial sutures and sutural cataracts maps to chromosome 14q13-q21
    Simeon A Boyadjiev
    McKusick Nathans Institute of Genetic Medicine, Center for Craniofacial Development and Disorders, Department of Pediatrics, The Johns Hopkins University School of Medicine, MD 21287 3914, Baltimore, USA
    Hum Genet 113:1-9. 2003
    ..The unique clinical phenotype and the mapping data suggest that this family represents a novel autosomal recessive syndrome...
  2. ncbi request reprint Clinical and molecular characterization of the bladder exstrophy-epispadias complex: analysis of 232 families
    Simeon A Boyadjiev
    McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltmore, MA, USA
    BJU Int 94:1337-43. 2004
    ..To identify genetic and nongenetic factors contributing to the risk of bladder exstrophy-epispadias complex (BEEC)...
  3. ncbi request reprint A reciprocal translocation 46,XY,t(8;9)(p11.2;q13) in a bladder exstrophy patient disrupts CNTNAP3 and presents evidence of a pericentromeric duplication on chromosome 9
    Simeon A Boyadjiev
    McKusick Nathans Institute of Genetic Medicine, The Johns Hopkins University School of Medicine, 733 N Broadway, BRB 469, Baltimore, MD 21205, USA
    Genomics 85:622-9. 2005
    ....
  4. pmc The [corrected] SEC23-SEC31 [corrected] interface plays critical role for export of procollagen from the endoplasmic reticulum
    Sun Don Kim
    Section of Genetics, Department of Pediatrics, University of California Davis Medical Center, Sacramento, California 95817, USA
    J Biol Chem 287:10134-44. 2012
    ..Our results indicate that a longer stay of COPII proteins on the membrane is required to cargo procollagen than other molecules and suggest that the SEC23-SEC31 interface plays a critical role in capturing various cargo molecules...
  5. ncbi request reprint Cranio-lenticulo-sutural dysplasia is caused by a SEC23A mutation leading to abnormal endoplasmic-reticulum-to-Golgi trafficking
    Simeon A Boyadjiev
    McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, USA
    Nat Genet 38:1192-7. 2006
    ..Our observations suggest that disrupted endoplasmic reticulum export of the secretory proteins required for normal morphogenesis accounts for CLSD...
  6. doi request reprint Cranio-lenticulo-sutural dysplasia associated with defects in collagen secretion
    Simeon A Boyadjiev
    Section of Genetics, Department of Pediatrics, University of California Davis Medical Center, Sacramento, CA, USA
    Clin Genet 80:169-76. 2011
    ..Our data suggest that defective ER export is the cause of CLSD and genetic element(s) besides SEC23A may influence its presentation...
  7. pmc A genome-wide association study identifies susceptibility loci for nonsyndromic sagittal craniosynostosis near BMP2 and within BBS9
    Cristina M Justice
    Genometrics Section, Inherited Disease Research Branch, Division of Intramural Research, National Human Genome Research Institute, US National Institutes of Health NIH, Baltimore, MD, USA
    Nat Genet 44:1360-4. 2012
    ..Both BMP2 and BBS9 are genes with roles in skeletal development that warrant functional studies to further understand the etiology of sNSC...
  8. pmc Leucine-rich repeat, immunoglobulin-like and transmembrane domain 3 (LRIT3) is a modulator of FGFR1
    Sun Don Kim
    Section of Genetics, Department of Pediatrics, University of California Davis Medical Center, Sacramento, CA 95817, USA
    FEBS Lett 586:1516-21. 2012
    ..Therefore proteins with LRR, IG, and FNIII are candidate regulators of the FGFRs. Here we identify leucine-rich repeat, immunoglobulin-like and transmembrane domain 3 (LRIT3) as a regulator of the FGFRs...
  9. doi request reprint Genetic predisposition to natural rubber latex allergy differs between health care workers and high-risk patients
    Constance L Monitto
    Department of Anesthesiology and Critical Care Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA
    Anesth Analg 110:1310-7. 2010
    ..In this study, we tested the hypothesis that single-nucleotide polymorphisms in genes encoding IL13 and IL18 occur at an increased frequency in NRL allergic patients with spina bifida (SB) or bladder exstrophy (BE)...
  10. ncbi request reprint A novel MGP mutation in a consanguineous family: review of the clinical and molecular characteristics of Keutel syndrome
    David J Hur
    McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA
    Am J Med Genet A 135:36-40. 2005
    ..This report broadens the clinical phenotype observed in patients with KS. The effect of the IVS2 + 1G > A mutation is consistent with the previously reported loss-of-function mutations of MGP...
  11. ncbi request reprint p63 (TP73L) a key player in embryonic urogenital development with significant dysregulation in human bladder exstrophy tissue
    Bonnie J Ching
    Section of Genetics, Department of Pediatrics, University of California Davis, Sacramento, CA 95817, USA
    Int J Mol Med 26:861-7. 2010
    ..Since p63 has been shown to self-regulate its expression through a balance of its isoforms, the dysregulation observed may contribute to the formation of BEEC...
  12. ncbi request reprint Intracranial hemorrhage as the initial manifestation of a congenital disorder of glycosylation
    Ronald D Cohn
    McKusick Nathans Institute of Genetic Medicine, Johns Hopkins Hospital, Children s Center, Johns Hopkins University School of Medicine, 600 N Wolfe St, Blalock 1008, Baltimore, Maryland 21205, USA
    Pediatrics 118:e514-21. 2006
    ..Intracranial hemorrhage in a term neonate without a potential precipitating factor represents yet another clinical feature that should raise the suspicion for a congenital disorder of glycosylation...
  13. pmc ALX4 gain-of-function mutations in nonsyndromic craniosynostosis
    Garima Yagnik
    Section of Genetics, Department of Pediatrics, University of California Davis, Sacramento, CA 95817, USA
    Hum Mutat 33:1626-9. 2012
    ..Using dual-luciferase assay we show that two of these variants (V7F and K211E) confer a significant gain-of-function effect on ALX4. Our results suggest that ALX4 variants may have an impact on the genetic etiology of NSC...
  14. doi request reprint GJA1 mutations, variants, and connexin 43 dysfunction as it relates to the oculodentodigital dysplasia phenotype
    William A Paznekas
    Institute of Genetic Medicine, Johns Hopkins University, Baltimore, Maryland, USA
    Hum Mutat 30:724-33. 2009
    ..Mutations resulting in ODDD occur in each of the nine domains of the Cx43 protein, and we review our functional experiments and those in the literature, examining the effects of 13 different Cx43 mutations upon gap junction activity...
  15. pmc Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia
    William A Paznekas
    Department of Pediatrics, Center for Craniofacial Development and Disorders, McKusick Nathans Institute of Genetic Medicine, The Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA
    Am J Hum Genet 72:408-18. 2003
    ..Expression patterns and phenotypic features of gja1 animal mutants, reported elsewhere, are compatible with the pleiotropic clinical presentation of oculodentodigital dysplasia...
  16. ncbi request reprint Concordance analyses of twins with bladder exstrophy-epispadias complex suggest genetic etiology
    Heiko Reutter
    Department of Human Genetics, University of Bonn, Bonn, Germany
    Am J Med Genet A 143:2751-6. 2007
  17. ncbi request reprint Mutational screening of FGFR1, CER1, and CDON in a large cohort of trigonocephalic patients
    Fernanda Sarquis Jehee
    Centro de Estudos do Genoma Humano, Departamento de Biologia, Instituto de Biociencias, Universidade de Sao Paulo, Rua do Matão 277, Sala 200 CEP 05508 900 São Paulo, SP, Brazil
    Cleft Palate Craniofac J 43:148-51. 2006
    ..Screen the known craniosynostotic related gene, FGFR1 (exon 7), and two new identified potential candidates, CER1 and CDON, in patients with syndromic and nonsyndromic metopic craniosynostosis to determine if they might be causative genes...
  18. pmc The genetic basis of a craniofacial disease provides insight into COPII coat assembly
    J Christopher Fromme
    Department of Molecular and Cell Biology, University of California, Berkeley, Berkeley, CA 94720, USA
    Dev Cell 13:623-34. 2007
    ..Our results indicate that the Sar1-Sec23-Sec24 prebudding complex is sufficient to form cargo-containing tubules in vivo, whereas the Sec13-Sec31 complex is required for membrane fission...