Published in Pigment Cell Res on December 01, 2002
Disorders of lysosome-related organelle biogenesis: clinical and molecular genetics. Annu Rev Genomics Hum Genet (2008) 2.83
Molecular mechanisms of biogenesis and exocytosis of cytotoxic granules. Nat Rev Immunol (2010) 1.93
Autophagy is essential for mouse sense of balance. J Clin Invest (2010) 1.81
Function of the Caenorhabditis elegans ABC transporter PGP-2 in the biogenesis of a lysosome-related fat storage organelle. Mol Biol Cell (2007) 1.80
Neutrophil elastase in cyclic and severe congenital neutropenia. Blood (2006) 1.74
The endo-lysosomal sorting machinery interacts with the intermediate filament cytoskeleton. Mol Biol Cell (2004) 1.42
Biogenesis of lysosome-related organelles complex 3 (BLOC-3): a complex containing the Hermansky-Pudlak syndrome (HPS) proteins HPS1 and HPS4. Proc Natl Acad Sci U S A (2003) 1.41
Disruption of AP1S1, causing a novel neurocutaneous syndrome, perturbs development of the skin and spinal cord. PLoS Genet (2008) 1.32
Melanocytes derived from patients with Hermansky-Pudlak Syndrome types 1, 2, and 3 have distinct defects in cargo trafficking. J Invest Dermatol (2005) 1.18
Systematic screening of polyphosphate (poly P) levels in yeast mutant cells reveals strong interdependence with primary metabolism. Genome Biol (2006) 1.15
Mixing model systems: using zebrafish and mouse inner ear mutants and other organ systems to unravel the mystery of otoconial development. Brain Res (2006) 1.12
The Sec1/Munc18 protein, Vps33p, functions at the endosome and the vacuole of Saccharomyces cerevisiae. Mol Biol Cell (2004) 1.12
glo-3, a novel Caenorhabditis elegans gene, is required for lysosome-related organelle biogenesis. Genetics (2008) 1.11
Regulation of tyrosinase trafficking and processing by presenilins: partial loss of function by familial Alzheimer's disease mutation. Proc Natl Acad Sci U S A (2005) 1.07
Melanocyte-specific proteins are aberrantly trafficked in melanocytes of Hermansky-Pudlak syndrome-type 3. Am J Pathol (2005) 1.01
The Tyr (albino) locus of the laboratory mouse. Mamm Genome (2004) 1.00
Regulation of secretory granule size by the precise generation and fusion of unit granules. J Cell Mol Med (2010) 0.98
Skin transcriptome profiles associated with coat color in sheep. BMC Genomics (2013) 0.91
Analysis of ocular hypopigmentation in Rab38cht/cht mice. Invest Ophthalmol Vis Sci (2007) 0.91
Membranous complexes characteristic of melanocytes derived from patients with Hermansky-Pudlak syndrome type 1 are macroautophagosomal entities of the lysosomal compartment. Pigment Cell Res (2005) 0.90
Association of the Hermansky-Pudlak syndrome type-3 protein with clathrin. BMC Cell Biol (2005) 0.87
Ocular pathologic features of Hermansky-Pudlak syndrome type 1 in an adult. Arch Ophthalmol (2006) 0.87
Newborn screening for hermansky-pudlak syndrome type 3 in Puerto Rico. J Pediatr Hematol Oncol (2010) 0.83
Metazoan cell biology of the HOPS tethering complex. Cell Logist (2011) 0.81
Vascular thiol isomerases. Blood (2016) 0.78
Ypt4 and lvs1 regulate vacuolar size and function in Schizosaccharomyces pombe. Cell Logist (2017) 0.75
NT5E mutations and arterial calcifications. N Engl J Med (2011) 8.71
Phenotype and course of Hutchinson-Gilford progeria syndrome. N Engl J Med (2008) 5.34
Natural history of alkaptonuria. N Engl J Med (2002) 5.32
Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations. N Engl J Med (2009) 4.96
Platelet polyphosphates are proinflammatory and procoagulant mediators in vivo. Cell (2009) 4.50
Disorders of lysosome-related organelle biogenesis: clinical and molecular genetics. Annu Rev Genomics Hum Genet (2008) 2.83
Circulating fibrocytes as biomarker of prognosis in Hermansky-Pudlak syndrome. Am J Respir Crit Care Med (2014) 2.77
Vascular pathology of medial arterial calcifications in NT5E deficiency: implications for the role of adenosine in pseudoxanthoma elasticum. Mol Genet Metab (2011) 2.65
Characteristics of congenital hepatic fibrosis in a large cohort of patients with autosomal recessive polycystic kidney disease. Gastroenterology (2012) 2.33
Retracted A BLOC-1 mutation screen reveals that PLDN is mutated in Hermansky-Pudlak Syndrome type 9. Am J Hum Genet (2011) 2.25
Mutation in the key enzyme of sialic acid biosynthesis causes severe glomerular proteinuria and is rescued by N-acetylmannosamine. J Clin Invest (2007) 2.04
Long-term follow-up of well-treated nephropathic cystinosis patients. J Pediatr (2004) 2.02
Gray platelet syndrome: natural history of a large patient cohort and locus assignment to chromosome 3p. Blood (2010) 2.00
A 3-year randomized therapeutic trial of nitisinone in alkaptonuria. Mol Genet Metab (2011) 1.98
Mitochondrial autophagy promotes cellular injury in nephropathic cystinosis. J Am Soc Nephrol (2009) 1.86
Homozygosity mapping and whole-exome sequencing to detect SLC45A2 and G6PC3 mutations in a single patient with oculocutaneous albinism and neutropenia. J Invest Dermatol (2011) 1.82
Use of nitisinone in patients with alkaptonuria. Metabolism (2005) 1.70
Hermansky-Pudlak syndrome type 4 (HPS-4): clinical and molecular characteristics. Hum Genet (2003) 1.69
Effect of the secretory small GTPase Rab27B on breast cancer growth, invasion, and metastasis. J Natl Cancer Inst (2010) 1.65
Whole-exome sequencing identifies homozygous AFG3L2 mutations in a spastic ataxia-neuropathy syndrome linked to mitochondrial m-AAA proteases. PLoS Genet (2011) 1.54
Mistargeting of peroxisomal EHHADH and inherited renal Fanconi's syndrome. N Engl J Med (2014) 1.53
Molecular defects that affect platelet dense granules. Semin Thromb Hemost (2004) 1.52
Cellular defects in Chediak-Higashi syndrome correlate with the molecular genotype and clinical phenotype. J Invest Dermatol (2007) 1.47
Mutations in SLC6A19, encoding B0AT1, cause Hartnup disorder. Nat Genet (2004) 1.45
Hermansky-Pudlak syndrome: radiography and CT of the chest compared with pulmonary function tests and genetic studies. AJR Am J Roentgenol (2002) 1.45
Heterozygous nonsense mutation SATB2 associated with cleft palate, osteoporosis, and cognitive defects. Hum Mutat (2007) 1.44
NBEAL2 is mutated in gray platelet syndrome and is required for biogenesis of platelet α-granules. Nat Genet (2011) 1.38
Nonsense mutations in ADTB3A cause complete deficiency of the beta3A subunit of adaptor complex-3 and severe Hermansky-Pudlak syndrome type 2. Pediatr Res (2002) 1.37
Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations. Nephron Physiol (2013) 1.31
Slc7a11 gene controls production of pheomelanin pigment and proliferation of cultured cells. Proc Natl Acad Sci U S A (2005) 1.28
Analysis of DNA sequence variants detected by high-throughput sequencing. Hum Mutat (2012) 1.28
Hypoglycosylation of alpha-dystroglycan in patients with hereditary IBM due to GNE mutations. Mol Genet Metab (2004) 1.26
Autosomal recessive polycystic kidney disease and congenital hepatic fibrosis: summary statement of a first National Institutes of Health/Office of Rare Diseases conference. J Pediatr (2006) 1.26
Interstitial lung disease and pulmonary fibrosis in Hermansky-Pudlak syndrome type 2, an adaptor protein-3 complex disease. Mol Med (2012) 1.26
Exacerbation of the ochronosis of alkaptonuria due to renal insufficiency and improvement after renal transplantation. Mol Genet Metab (2002) 1.25
DNA variations in oculocutaneous albinism: an updated mutation list and current outstanding issues in molecular diagnostics. Hum Mutat (2013) 1.25
An analysis of exome sequencing for diagnostic testing of the genes associated with muscle disease and spastic paraplegia. Hum Mutat (2012) 1.25
Melanocortin 1 receptor genotype: an important determinant of the damage response of melanocytes to ultraviolet radiation. FASEB J (2010) 1.23
Cystinosis: the evolution of a treatable disease. Pediatr Nephrol (2012) 1.23
4-Tertiary butyl phenol exposure sensitizes human melanocytes to dendritic cell-mediated killing: relevance to vitiligo. J Invest Dermatol (2005) 1.20
Exome sequencing and SNP analysis detect novel compound heterozygosity in fatty acid hydroxylase-associated neurodegeneration. Eur J Hum Genet (2011) 1.18
Melanocytes derived from patients with Hermansky-Pudlak Syndrome types 1, 2, and 3 have distinct defects in cargo trafficking. J Invest Dermatol (2005) 1.18
Evidence that Griscelli syndrome with neurological involvement is caused by mutations in RAB27A, not MYO5A. Am J Hum Genet (2002) 1.18
Cappuccino, a mouse model of Hermansky-Pudlak syndrome, encodes a novel protein that is part of the pallidin-muted complex (BLOC-1). Blood (2003) 1.18
Reduced pigmentation (rp), a mouse model of Hermansky-Pudlak syndrome, encodes a novel component of the BLOC-1 complex. Blood (2004) 1.17
Correlation of kidney function, volume and imaging findings, and PKHD1 mutations in 73 patients with autosomal recessive polycystic kidney disease. Clin J Am Soc Nephrol (2010) 1.16
Alveolar macrophage dysregulation in Hermansky-Pudlak syndrome type 1. Am J Respir Crit Care Med (2009) 1.15
Hermansky-Pudlak syndrome: health care throughout life. Pediatrics (2013) 1.15
Autosomal recessive polycystic kidney disease and congenital hepatic fibrosis (ARPKD/CHF). Pediatr Radiol (2008) 1.14
Pirfenidone for the treatment of Hermansky-Pudlak syndrome pulmonary fibrosis. Mol Genet Metab (2011) 1.13
Renal glucosuria due to SGLT2 mutations. Mol Genet Metab (2004) 1.11
Exome sequencing as a diagnostic tool in a case of undiagnosed juvenile-onset GM1-gangliosidosis. Neurology (2012) 1.11
Mutation spectrum of homogentisic acid oxidase (HGD) in alkaptonuria. Hum Mutat (2009) 1.11
Successful bilateral lung transplantation for pulmonary fibrosis associated with the Hermansky-Pudlak syndrome. J Heart Lung Transplant (2005) 1.10
Pharmacological treatment of nephropathic cystinosis with cysteamine. Expert Opin Pharmacother (2004) 1.09
VAR-MD: a tool to analyze whole exome-genome variants in small human pedigrees with mendelian inheritance. Hum Mutat (2012) 1.08
Musculoskeletal findings and disability in alkaptonuria. J Rheumatol (2006) 1.07
PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis. Mol Genet Metab (2009) 1.07
Two novel CHS1 (LYST) mutations: clinical correlations in an infant with Chediak-Higashi syndrome. Mol Genet Metab (2005) 1.07
Intravenous immune globulin in hereditary inclusion body myopathy: a pilot study. BMC Neurol (2007) 1.07
Regulation of tyrosinase trafficking and processing by presenilins: partial loss of function by familial Alzheimer's disease mutation. Proc Natl Acad Sci U S A (2005) 1.07
Chediak-Higashi syndrome with early developmental delay resulting from paternal heterodisomy of chromosome 1. Am J Med Genet A (2010) 1.06
Hermansky-Pudlak syndrome type 1: gene organization, novel mutations, and clinical-molecular review of non-Puerto Rican cases. Hum Mutat (2002) 1.06
Improper trafficking of melanocyte-specific proteins in Hermansky-Pudlak syndrome type-5. J Invest Dermatol (2007) 1.04
Cellular, molecular and clinical characterization of patients with Hermansky-Pudlak syndrome type 5. Traffic (2004) 1.04
Sialin (SLC17A5) functions as a nitrate transporter in the plasma membrane. Proc Natl Acad Sci U S A (2012) 1.04
1,25-(OH)2D-24 Hydroxylase (CYP24A1) Deficiency as a Cause of Nephrolithiasis. Clin J Am Soc Nephrol (2013) 1.04
Automated quantification of high-resolution CT scan findings in individuals at risk for pulmonary fibrosis. Chest (2011) 1.03
Melanocyte-specific proteins are aberrantly trafficked in melanocytes of Hermansky-Pudlak syndrome-type 3. Am J Pathol (2005) 1.01
Genetic basis of cystinosis in Turkish patients: a single-center experience. Pediatr Nephrol (2011) 1.00
A novel cytokine pathway suppresses glial cell melanogenesis after injury to adult nerve. J Neurosci (2002) 1.00
MKS3-related ciliopathy with features of autosomal recessive polycystic kidney disease, nephronophthisis, and Joubert Syndrome. J Pediatr (2009) 1.00
A novel missense mutation (G43S) in the switch I region of Rab27A causing Griscelli syndrome. Mol Genet Metab (2008) 0.99
Nitisinone improves eye and skin pigmentation defects in a mouse model of oculocutaneous albinism. J Clin Invest (2011) 0.99
Swallowing dysfunction in 101 patients with nephropathic cystinosis: benefit of long-term cysteamine therapy. Medicine (Baltimore) (2005) 0.99
Oral monosaccharide therapies to reverse renal and muscle hyposialylation in a mouse model of GNE myopathy. Mol Genet Metab (2012) 0.99
Use of a cell-free system to determine UDP-N-acetylglucosamine 2-epimerase and N-acetylmannosamine kinase activities in human hereditary inclusion body myopathy. Glycobiology (2005) 0.98
Mechanisms regulating skin pigmentation: the rise and fall of complexion coloration. Int J Mol Sci (2009) 0.98
The risk of hemophagocytic lymphohistiocytosis in Hermansky-Pudlak syndrome type 2. Blood (2013) 0.97
Multilineage somatic activating mutations in HRAS and NRAS cause mosaic cutaneous and skeletal lesions, elevated FGF23 and hypophosphatemia. Hum Mol Genet (2013) 0.96
Dysregulation of galectin-3. Implications for Hermansky-Pudlak syndrome pulmonary fibrosis. Am J Respir Cell Mol Biol (2014) 0.96
Identification, tissue distribution, and molecular modeling of novel human isoforms of the key enzyme in sialic acid synthesis, UDP-GlcNAc 2-epimerase/ManNAc kinase. Biochemistry (2011) 0.95
Mutation update for GNE gene variants associated with GNE myopathy. Hum Mutat (2014) 0.95
A role for tyrosinase-related protein 1 in 4-tert-butylphenol-induced toxicity in melanocytes: Implications for vitiligo. Am J Pathol (2006) 0.95
Cysteamine toxicity in patients with cystinosis. J Pediatr (2011) 0.94
An immunoblotting assay to facilitate the molecular diagnosis of Hermansky-Pudlak syndrome. Mol Genet Metab (2007) 0.94
First NIH/Office of Rare Diseases Conference on Cystinosis: past, present, and future. Pediatr Nephrol (2005) 0.94
Hereditary inclusion body myopathy: single patient response to intravenous dosing of GNE gene lipoplex. Hum Gene Ther (2011) 0.93
FDG PET images in a patient with Erdheim-Chester disease. Clin Nucl Med (2014) 0.93
Idiopathic intracranial hypertension in cystinosis. J Pediatr (2004) 0.93
Mouse model for Lowe syndrome/Dent Disease 2 renal tubulopathy. J Am Soc Nephrol (2010) 0.93
Monobenzyl ether of hydroquinone and 4-tertiary butyl phenol activate markedly different physiological responses in melanocytes: relevance to skin depigmentation. J Invest Dermatol (2010) 0.93
The BLOS1-interacting protein KXD1 is involved in the biogenesis of lysosome-related organelles. Traffic (2012) 0.92
Molecular analysis of the Retinoic Acid Induced 1 gene (RAI1) in patients with suspected Smith-Magenis syndrome without the 17p11.2 deletion. PLoS One (2011) 0.92
A congenital neutrophil defect syndrome associated with mutations in VPS45. N Engl J Med (2013) 0.92
The Slc35d3 gene, encoding an orphan nucleotide sugar transporter, regulates platelet-dense granules. Blood (2006) 0.92
Metabolic acetate therapy improves phenotype in the tremor rat model of Canavan disease. J Inherit Metab Dis (2010) 0.92