Genomes and Genes
Simeon A Boyadjiev
Affiliation: Johns Hopkins University
- A novel dysmorphic syndrome with open calvarial sutures and sutural cataracts maps to chromosome 14q13-q21Simeon 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...
- Clinical and molecular characterization of the bladder exstrophy-epispadias complex: analysis of 232 familiesSimeon 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)...
- 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 9Simeon 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....
- SEC23-SEC31 the interface plays critical role for export of procollagen from the endoplasmic reticulumSun 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...
- Cranio-lenticulo-sutural dysplasia associated with defects in collagen secretionSimeon 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...
- Cranio-lenticulo-sutural dysplasia is caused by a SEC23A mutation leading to abnormal endoplasmic-reticulum-to-Golgi traffickingSimeon 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...
- Leucine-rich repeat, immunoglobulin-like and transmembrane domain 3 (LRIT3) is a modulator of FGFR1Sun 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...
- p63 (TP73L) a key player in embryonic urogenital development with significant dysregulation in human bladder exstrophy tissueBonnie 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...
- Genetic predisposition to natural rubber latex allergy differs between health care workers and high-risk patientsConstance 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)...
- A novel MGP mutation in a consanguineous family: review of the clinical and molecular characteristics of Keutel syndromeDavid 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...
- Intracranial hemorrhage as the initial manifestation of a congenital disorder of glycosylationRonald 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...
- GJA1 mutations, variants, and connexin 43 dysfunction as it relates to the oculodentodigital dysplasia phenotypeWilliam 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...
- Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasiaWilliam 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...
- The genetic basis of a craniofacial disease provides insight into COPII coat assemblyJ 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...
- Mutational screening of FGFR1, CER1, and CDON in a large cohort of trigonocephalic patientsFernanda Sarquis Jehee
Centro de Estudos do Genoma Humano, Departamento de Biologia, , , , , SP, Brazil
Cleft Palate Craniofac J 43:148-51. 2006..Screening of FGFR1 (exon 7) for diagnostic purposes should not be performed in trigonocephalic patients...
- Concordance analyses of twins with bladder exstrophy-epispadias complex suggest genetic etiologyHeiko Reutter
Department of Human Genetics, University of Bonn, Bonn, Germany
Am J Med Genet A 143:2751-6. 2007