Andrew R Cullinane

Summary

Affiliation: National Institutes of Health
Country: USA

Publications

  1. pmc A BLOC-1 mutation screen reveals a novel BLOC1S3 mutation in Hermansky-Pudlak Syndrome type 8
    Andrew R Cullinane
    Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA
    Pigment Cell Melanoma Res 25:584-91. 2012
  2. pmc A BLOC-1 mutation screen reveals that PLDN is mutated in Hermansky-Pudlak Syndrome type 9
    Andrew R Cullinane
    Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
    Am J Hum Genet 88:778-87. 2011
  3. pmc Homozygosity mapping and whole-exome sequencing to detect SLC45A2 and G6PC3 mutations in a single patient with oculocutaneous albinism and neutropenia
    Andrew R Cullinane
    Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA
    J Invest Dermatol 131:2017-25. 2011
  4. pmc Cellular and clinical report of new Griscelli syndrome type III cases
    Wendy Westbroek
    Section on Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, NIH, Bethesda MD, USA
    Pigment Cell Melanoma Res 25:47-56. 2012
  5. pmc The BEACH is hot: a LYST of emerging roles for BEACH-domain containing proteins in human disease
    Andrew R Cullinane
    Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, MD 20892, USA
    Traffic 14:749-66. 2013

Detail Information

Publications5

  1. pmc A BLOC-1 mutation screen reveals a novel BLOC1S3 mutation in Hermansky-Pudlak Syndrome type 8
    Andrew R Cullinane
    Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA
    Pigment Cell Melanoma Res 25:584-91. 2012
    ..These findings confirm a common cellular defect for HPS patients with defects in BLOC-1 subunits. We identified only two patients with BLOC-1 defects in our cohort, suggesting that other HPS genes remain to be identified...
  2. pmc A BLOC-1 mutation screen reveals that PLDN is mutated in Hermansky-Pudlak Syndrome type 9
    Andrew R Cullinane
    Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
    Am J Hum Genet 88:778-87. 2011
    ....
  3. pmc Homozygosity mapping and whole-exome sequencing to detect SLC45A2 and G6PC3 mutations in a single patient with oculocutaneous albinism and neutropenia
    Andrew R Cullinane
    Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA
    J Invest Dermatol 131:2017-25. 2011
    ....
  4. pmc Cellular and clinical report of new Griscelli syndrome type III cases
    Wendy Westbroek
    Section on Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, NIH, Bethesda MD, USA
    Pigment Cell Melanoma Res 25:47-56. 2012
    ..Additionally, co-immunoprecipitation assays showed that MLPH(R35W) lost its interaction with RAB27A, indicating pathogenicity of the R35W mutation...
  5. pmc The BEACH is hot: a LYST of emerging roles for BEACH-domain containing proteins in human disease
    Andrew R Cullinane
    Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, MD 20892, USA
    Traffic 14:749-66. 2013
    ..Further elucidation of these mechanisms, preferably carrying out the same experiment on multiple BDCPs, and possibly using patients' cells, may identify potential targets for therapy...