Published in Mol Genet Metab on November 12, 2014
Clinical and Basic Investigations Into Hermansky-Pudlak Syndrome | NCT00001456
Pulmonary Fibrosis in Hermansky-Pudlak Syndrome. Ann Am Thorac Soc (2016) 0.76
Immunophenotypic and Ultrastructural Analysis of Mast Cells in Hermansky-Pudlak Syndrome Type-1: A Possible Connection to Pulmonary Fibrosis. PLoS One (2016) 0.75
Hematopoietic stem cell gene transfer in a tumor-prone mouse model uncovers low genotoxicity of lentiviral vector integration. Nat Biotechnol (2006) 5.58
Disorders of lysosome-related organelle biogenesis: clinical and molecular genetics. Annu Rev Genomics Hum Genet (2008) 2.83
Rab38 and Rab32 control post-Golgi trafficking of melanogenic enzymes. J Cell Biol (2006) 2.79
Correction of a mouse model of sickle cell disease: lentiviral/antisickling beta-globin gene transduction of unmobilized, purified hematopoietic stem cells. Blood (2003) 1.76
BLOC-3 mutated in Hermansky-Pudlak syndrome is a Rab32/38 guanine nucleotide exchange factor. Curr Biol (2012) 1.74
Interstitial pneumonia in Hermansky-Pudlak syndrome: significance of florid foamy swelling/degeneration (giant lamellar body degeneration) of type-2 pneumocytes. Virchows Arch (2000) 1.44
Interstitial lung disease and pulmonary fibrosis in Hermansky-Pudlak syndrome type 2, an adaptor protein-3 complex disease. Mol Med (2012) 1.26
The alveolar epithelium determines susceptibility to lung fibrosis in Hermansky-Pudlak syndrome. Am J Respir Crit Care Med (2012) 1.06
Rab38 targets to lamellar bodies and normalizes their sizes in lung alveolar type II epithelial cells. Am J Physiol Lung Cell Mol Physiol (2011) 0.94
An immunoblotting assay to facilitate the molecular diagnosis of Hermansky-Pudlak syndrome. Mol Genet Metab (2007) 0.94
Insertional mutagenesis by retroviral vectors: current concepts and methods of analysis. Curr Gene Ther (2013) 0.87
Expert opinion in biological therapy: update on developments in lung gene transfer. Expert Opin Biol Ther (2013) 0.83
A BLOC-1 mutation screen reveals a novel BLOC1S3 mutation in Hermansky-Pudlak Syndrome type 8. Pigment Cell Melanoma Res (2012) 0.82
GNE myopathy: new name and new mutation nomenclature. Neuromuscul Disord (2014) 1.05
Genetic and hypoxic alterations of the microRNA-210-ISCU1/2 axis promote iron-sulfur deficiency and pulmonary hypertension. EMBO Mol Med (2015) 0.95
Mutations in KIAA0753 cause Joubert syndrome associated with growth hormone deficiency. Hum Genet (2017) 0.75
New observation of sialuria prompts detection of liver tumor in previously reported patient. Mol Genet Metab (2016) 0.75