C Maslen

Summary

Affiliation: Oregon Health and Science University
Country: USA

Publications

  1. pmc A rare branch-point mutation is associated with missplicing of fibrillin-2 in a large family with congenital contractural arachnodactyly
    C Maslen
    Department of Medicine, Oregon Health Sciences University, Portland 97201 3098, USA
    Am J Hum Genet 60:1389-98. 1997
  2. ncbi request reprint Molecular genetics of atrioventricular septal defects
    Cheryl L Maslen
    Department of Medicine, Heart Research Center, Oregon Health and Science University, Portland, 97239, USA
    Curr Opin Cardiol 19:205-10. 2004
  3. ncbi request reprint CRELD2: gene mapping, alternate splicing, and comparative genomic identification of the promoter region
    Cheryl L Maslen
    Department of Medicine, Oregon Health and Science University, Portland Oregon 97239, USA
    Gene 382:111-20. 2006
  4. ncbi request reprint CRELD1 mutations contribute to the occurrence of cardiac atrioventricular septal defects in Down syndrome
    Cheryl L Maslen
    Department of Medicine, Division of Endocrinology, Oregon Health and Science University, Portland 97239, USA
    Am J Med Genet A 140:2501-5. 2006
  5. ncbi request reprint Identification, genomic organization and mRNA expression of CRELD1, the founding member of a unique family of matricellular proteins
    Paul A Rupp
    Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland, OR 97201, USA
    Gene 293:47-57. 2002
  6. pmc Missense mutations in CRELD1 are associated with cardiac atrioventricular septal defects
    Susan W Robinson
    Division of Endocrinology, Department of Medicine, Oregon Health and Science University, Portland, OR 97239, USA
    Am J Hum Genet 72:1047-52. 2003
  7. ncbi request reprint A single mutation that results in an Asp to His substitution and partial exon skipping in a family with congenital contractural arachnodactyly
    D Babcock
    Department of Medicine, Oregon Health Sciences University, Portland 97201 3098, USA
    Hum Genet 103:22-8. 1998
  8. pmc Surgical treatment of patients enrolled in the national registry of genetically triggered thoracic aortic conditions
    Howard K Song
    Song, Division of Cardiothoracic Surgery, Oregon Health and Science University, Portland, Oregon 97239, USA
    Ann Thorac Surg 88:781-7; discussion 787-8. 2009

Collaborators

Detail Information

Publications8

  1. pmc A rare branch-point mutation is associated with missplicing of fibrillin-2 in a large family with congenital contractural arachnodactyly
    C Maslen
    Department of Medicine, Oregon Health Sciences University, Portland 97201 3098, USA
    Am J Hum Genet 60:1389-98. 1997
    ..In addition, branch-point mutations only very rarely have been associated with human disease, suggesting that the unusual composition of this intron influences splicing stability...
  2. ncbi request reprint Molecular genetics of atrioventricular septal defects
    Cheryl L Maslen
    Department of Medicine, Heart Research Center, Oregon Health and Science University, Portland, 97239, USA
    Curr Opin Cardiol 19:205-10. 2004
    ..Recent advances in understanding the molecular genetic basis of AVSD are reviewed...
  3. ncbi request reprint CRELD2: gene mapping, alternate splicing, and comparative genomic identification of the promoter region
    Cheryl L Maslen
    Department of Medicine, Oregon Health and Science University, Portland Oregon 97239, USA
    Gene 382:111-20. 2006
    ..Confirmed splice variants encode 5 different CRELD2 isoforms that differ significantly in composition indicating that CRELD2 function is varied and as yet poorly understood...
  4. ncbi request reprint CRELD1 mutations contribute to the occurrence of cardiac atrioventricular septal defects in Down syndrome
    Cheryl L Maslen
    Department of Medicine, Division of Endocrinology, Oregon Health and Science University, Portland 97239, USA
    Am J Med Genet A 140:2501-5. 2006
  5. ncbi request reprint Identification, genomic organization and mRNA expression of CRELD1, the founding member of a unique family of matricellular proteins
    Paul A Rupp
    Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland, OR 97201, USA
    Gene 293:47-57. 2002
    ..The CRELD1 gene is deleted in the human cytogenetic disorder 3p- syndrome and is in the region of loss of heterozygosity for several types of cancer. A potential role for this protein in these disorders is discussed...
  6. pmc Missense mutations in CRELD1 are associated with cardiac atrioventricular septal defects
    Susan W Robinson
    Division of Endocrinology, Department of Medicine, Oregon Health and Science University, Portland, OR 97239, USA
    Am J Hum Genet 72:1047-52. 2003
    ..CRELD1 is the first human gene to be implicated in the pathogenesis of isolated AVSD and AVSD in the context of heterotaxy, which provides an important step in unraveling the pathogenesis of AVSD...
  7. ncbi request reprint A single mutation that results in an Asp to His substitution and partial exon skipping in a family with congenital contractural arachnodactyly
    D Babcock
    Department of Medicine, Oregon Health Sciences University, Portland 97201 3098, USA
    Hum Genet 103:22-8. 1998
    ..This indicates that an overabundance of mutant transcript does not necessarily correlate with a more severe CCA phenotype...
  8. pmc Surgical treatment of patients enrolled in the national registry of genetically triggered thoracic aortic conditions
    Howard K Song
    Song, Division of Cardiothoracic Surgery, Oregon Health and Science University, Portland, Oregon 97239, USA
    Ann Thorac Surg 88:781-7; discussion 787-8. 2009
    ....