Published in Nat Genet on February 11, 2002
Disorders of lysosome-related organelle biogenesis: clinical and molecular genetics. Annu Rev Genomics Hum Genet (2008) 2.83
Hermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1). Nat Genet (2003) 2.78
Retracted A BLOC-1 mutation screen reveals that PLDN is mutated in Hermansky-Pudlak Syndrome type 9. Am J Hum Genet (2011) 2.25
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
Hermansky-Pudlak syndrome type 4 (HPS-4): clinical and molecular characteristics. Hum Genet (2003) 1.69
Endocytosis and signaling: cell logistics shape the eukaryotic cell plan. Physiol Rev (2012) 1.61
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
The rat Ruby ( R) locus is Rab38: identical mutations in Fawn-hooded and Tester-Moriyama rats derived from an ancestral Long Evans rat sub-strain. Mamm Genome (2004) 1.29
Identification of a homozygous deletion in the AP3B1 gene causing Hermansky-Pudlak syndrome, type 2. Blood (2006) 1.28
Mechanisms of protein delivery to melanosomes in pigment cells. Physiology (Bethesda) (2012) 1.19
Assembly of the biogenesis of lysosome-related organelles complex-3 (BLOC-3) and its interaction with Rab9. J Biol Chem (2010) 1.19
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
Epithelial stress and apoptosis underlie Hermansky-Pudlak syndrome-associated interstitial pneumonia. Am J Respir Crit Care Med (2010) 1.10
Comprehensive analysis of oculocutaneous albinism among non-Hispanic caucasians shows that OCA1 is the most prevalent OCA type. J Invest Dermatol (2008) 1.09
Defective release of α granule and lysosome contents from platelets in mouse Hermansky-Pudlak syndrome models. Blood (2014) 1.02
Melanocyte-specific proteins are aberrantly trafficked in melanocytes of Hermansky-Pudlak syndrome-type 3. Am J Pathol (2005) 1.01
MC1R mutations modify the classic phenotype of oculocutaneous albinism type 2 (OCA2). Am J Hum Genet (2003) 0.95
An immunoblotting assay to facilitate the molecular diagnosis of Hermansky-Pudlak syndrome. Mol Genet Metab (2007) 0.94
The Slc35d3 gene, encoding an orphan nucleotide sugar transporter, regulates platelet-dense granules. Blood (2006) 0.92
Analysis of ocular hypopigmentation in Rab38cht/cht mice. Invest Ophthalmol Vis Sci (2007) 0.91
The construction of transgenic and gene knockout/knockin mouse models of human disease. Transgenic Res (2011) 0.91
Phenotype Similarity Regression for Identifying the Genetic Determinants of Rare Diseases. Am J Hum Genet (2016) 0.88
A strategy to study tyrosinase transgenes in mouse melanocytes. BMC Cell Biol (2005) 0.88
A divalent interaction between HPS1 and HPS4 is required for the formation of the biogenesis of lysosome-related organelle complex-3 (BLOC-3). Biochim Biophys Acta (2012) 0.87
Association of the Hermansky-Pudlak syndrome type-3 protein with clathrin. BMC Cell Biol (2005) 0.87
BLOC-1 and BLOC-3 regulate VAMP7 cycling to and from melanosomes via distinct tubular transport carriers. J Cell Biol (2016) 0.87
Inherited platelet disorders: toward DNA-based diagnosis. Blood (2016) 0.85
Cargo sorting to lysosome-related organelles regulates siRNA-mediated gene silencing. J Cell Biol (2011) 0.85
Hermansky-Pudlak syndrome type 4 with interstitial pneumonia. Respir Med Case Rep (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
Caenorhabditis elegans HOPS and CCZ-1 mediate trafficking to lysosome-related organelles independently of RAB-7 and SAND-1. Mol Biol Cell (2014) 0.82
Traffic into silence: endomembranes and post-transcriptional RNA silencing. EMBO J (2014) 0.81
Clinical, molecular, and cellular features of non-Puerto Rican Hermansky-Pudlak syndrome patients of Hispanic descent. J Invest Dermatol (2011) 0.81
Organelle biogenesis: en BLOC exchange for RAB32 and RAB38. Curr Biol (2012) 0.80
Melanoregulin, product of the dsu locus, links the BLOC-pathway and OA1 in organelle biogenesis. PLoS One (2012) 0.79
snow white, a zebrafish model of Hermansky-Pudlak Syndrome type 5. Genetics (2013) 0.78
Pulmonary Fibrosis in Hermansky-Pudlak Syndrome. Ann Am Thorac Soc (2016) 0.76
Clinical and molecular phenotyping of a child with Hermansky-Pudlak syndrome-7, an uncommon genetic type of HPS. Mol Genet Metab (2017) 0.75
Novel HPS6 mutations identified by whole-exome sequencing in two Japanese sisters with suspected ocular albinism. J Hum Genet (2016) 0.75
Association of the Hermansky-Pudlak syndrome type 4 (HPS4) gene variants with cognitive function in patients with schizophrenia and healthy subjects. BMC Psychiatry (2013) 0.75
Hypertension, chronic kidney disease, and renal pathology in a child with hermansky-pudlak syndrome. Int J Nephrol (2011) 0.75
Ocular Findings in Patients with the Hermansky-Pudlak Syndrome (Types 1 and 3). Ophthalmic Genet (2014) 0.75
Model-based analysis of ChIP-Seq (MACS). Genome Biol (2008) 51.63
A draft sequence of the rice genome (Oryza sativa L. ssp. indica). Science (2002) 42.78
Genome-wide analysis of estrogen receptor binding sites. Nat Genet (2006) 18.63
Genome-wide association scan of tag SNPs identifies a susceptibility locus for lung cancer at 15q25.1. Nat Genet (2008) 16.17
Chromosome-wide mapping of estrogen receptor binding reveals long-range regulation requiring the forkhead protein FoxA1. Cell (2005) 14.32
FoxA1 translates epigenetic signatures into enhancer-driven lineage-specific transcription. Cell (2008) 14.18
Model-based analysis of tiling-arrays for ChIP-chip. Proc Natl Acad Sci U S A (2006) 13.68
A comparison of whole-genome shotgun-derived mouse chromosome 16 and the human genome. Science (2002) 9.59
Genome-wide association studies of 14 agronomic traits in rice landraces. Nat Genet (2010) 8.75
The role of microRNA genes in papillary thyroid carcinoma. Proc Natl Acad Sci U S A (2005) 8.60
The RCSB Protein Data Bank: a redesigned query system and relational database based on the mmCIF schema. Nucleic Acids Res (2005) 7.81
Model-based analysis of two-color arrays (MA2C). Genome Biol (2007) 7.28
Androgen receptor regulates a distinct transcription program in androgen-independent prostate cancer. Cell (2009) 7.09
Comparison of sequencing-based methods to profile DNA methylation and identification of monoallelic epigenetic modifications. Nat Biotechnol (2010) 7.00
PlasmoDB: a functional genomic database for malaria parasites. Nucleic Acids Res (2008) 6.73
iPS cells produce viable mice through tetraploid complementation. Nature (2009) 6.51
Origin and diversity of novel avian influenza A H7N9 viruses causing human infection: phylogenetic, structural, and coalescent analyses. Lancet (2013) 6.10
A hierarchical network of transcription factors governs androgen receptor-dependent prostate cancer growth. Mol Cell (2007) 5.99
BSMAP: whole genome bisulfite sequence MAPping program. BMC Bioinformatics (2009) 5.67
Evidence that ternary complex (eIF2-GTP-tRNA(i)(Met))-deficient preinitiation complexes are core constituents of mammalian stress granules. Mol Biol Cell (2002) 5.20
Bone marrow edema and its relation to progression of knee osteoarthritis. Ann Intern Med (2003) 4.98
The TEAD/TEF family of transcription factor Scalloped mediates Hippo signaling in organ size control. Dev Cell (2008) 4.90
Cardiovascular risk and events in 17 low-, middle-, and high-income countries. N Engl J Med (2014) 4.88
Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities. Nat Genet (2008) 4.87
Association of urinary sodium and potassium excretion with blood pressure. N Engl J Med (2014) 4.86
Dnmt3a is essential for hematopoietic stem cell differentiation. Nat Genet (2011) 4.85
Genome sequence and comparative microarray analysis of serotype M18 group A Streptococcus strains associated with acute rheumatic fever outbreaks. Proc Natl Acad Sci U S A (2002) 4.85
A G protein-coupled receptor is a plasma membrane receptor for the plant hormone abscisic acid. Science (2007) 4.61
Dicer is required for embryonic angiogenesis during mouse development. J Biol Chem (2004) 4.40
Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance. Cell (2010) 4.37
RSeQC: quality control of RNA-seq experiments. Bioinformatics (2012) 4.31
Productivity is a poor predictor of plant species richness. Science (2011) 4.21
A novel influenza A (H1N1) vaccine in various age groups. N Engl J Med (2009) 4.20
Biventricular pacing in patients with bradycardia and normal ejection fraction. N Engl J Med (2009) 4.17
The complete genome sequence of Mycobacterium avium subspecies paratuberculosis. Proc Natl Acad Sci U S A (2005) 4.16
Systematic evaluation of variability in ChIP-chip experiments using predefined DNA targets. Genome Res (2008) 4.08
NALP1 in vitiligo-associated multiple autoimmune disease. N Engl J Med (2007) 3.99
A broadly implementable research course in phage discovery and genomics for first-year undergraduate students. MBio (2014) 3.93
DICER1 deficit induces Alu RNA toxicity in age-related macular degeneration. Nature (2011) 3.90
Lung cancer signatures in plasma based on proteome profiling of mouse tumor models. Cancer Cell (2011) 3.88
TriTrypDB: a functional genomic resource for the Trypanosomatidae. Nucleic Acids Res (2009) 3.79
Receptor-like cytoplasmic kinases integrate signaling from multiple plant immune receptors and are targeted by a Pseudomonas syringae effector. Cell Host Microbe (2010) 3.73
Obesity: a challenge to esophagogastric junction integrity. Gastroenterology (2006) 3.72
Simultaneous generation and germline transmission of multiple gene mutations in rat using CRISPR-Cas systems. Nat Biotechnol (2013) 3.65
Meta-analysis of traditional Chinese patent medicine for ischemic stroke. Stroke (2007) 3.46
Common variants on 9q22.33 and 14q13.3 predispose to thyroid cancer in European populations. Nat Genet (2009) 3.46
Single-layer MoS2 phototransistors. ACS Nano (2011) 3.43
Quantifying esophageal peristalsis with high-resolution manometry: a study of 75 asymptomatic volunteers. Am J Physiol Gastrointest Liver Physiol (2006) 3.41
Benign prostatic hyperplasia: prostatic arterial embolization versus transurethral resection of the prostate--a prospective, randomized, and controlled clinical trial. Radiology (2013) 3.32
The Felodipine Event Reduction (FEVER) Study: a randomized long-term placebo-controlled trial in Chinese hypertensive patients. J Hypertens (2005) 3.27
ST2 as a marker for risk of therapy-resistant graft-versus-host disease and death. N Engl J Med (2013) 3.27
CEAS: cis-regulatory element annotation system. Nucleic Acids Res (2006) 3.15
Quantifying EGJ morphology and relaxation with high-resolution manometry: a study of 75 asymptomatic volunteers. Am J Physiol Gastrointest Liver Physiol (2006) 3.12
Tissue Doppler imaging is superior to strain rate imaging and postsystolic shortening on the prediction of reverse remodeling in both ischemic and nonischemic heart failure after cardiac resynchronization therapy. Circulation (2004) 3.12
Epidemiology of vitiligo and associated autoimmune diseases in Caucasian probands and their families. Pigment Cell Res (2003) 3.07
The amphioxus genome illuminates vertebrate origins and cephalochordate biology. Genome Res (2008) 3.04
Human chromosome 7: DNA sequence and biology. Science (2003) 3.02
Analysis of the human endogenous coregulator complexome. Cell (2011) 2.97
SIRT7 links H3K18 deacetylation to maintenance of oncogenic transformation. Nature (2012) 2.96
Integrative analysis of HIF binding and transactivation reveals its role in maintaining histone methylation homeostasis. Proc Natl Acad Sci U S A (2009) 2.95
VHL loss actuates a HIF-independent senescence programme mediated by Rb and p400. Nat Cell Biol (2008) 2.93
Histopathologic variability and endoscopic correlates in adults with eosinophilic esophagitis. Gastrointest Endosc (2006) 2.89
CPAT: Coding-Potential Assessment Tool using an alignment-free logistic regression model. Nucleic Acids Res (2013) 2.88
Crystal structure of a stable dimer reveals the molecular basis of serpin polymerization. Nature (2008) 2.88
Right ventricular function in adults with repaired tetralogy of Fallot assessed with cardiovascular magnetic resonance imaging: detrimental role of right ventricular outflow aneurysms or akinesia and adverse right-to-left ventricular interaction. J Am Coll Cardiol (2002) 2.87
Prolonged diabetes reversal after intraportal xenotransplantation of wild-type porcine islets in immunosuppressed nonhuman primates. Nat Med (2006) 2.83
Rab38 and Rab32 control post-Golgi trafficking of melanogenic enzymes. J Cell Biol (2006) 2.79
Hermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1). Nat Genet (2003) 2.78
Correlation between retinal abnormalities and intracranial abnormalities in the shaken baby syndrome. Am J Ophthalmol (2002) 2.75
Function annotation of the rice transcriptome at single-nucleotide resolution by RNA-seq. Genome Res (2010) 2.73
The PSA(-/lo) prostate cancer cell population harbors self-renewing long-term tumor-propagating cells that resist castration. Cell Stem Cell (2012) 2.69
A C. elegans model of nicotine-dependent behavior: regulation by TRP-family channels. Cell (2006) 2.68
A randomized controlled trial of Licartin for preventing hepatoma recurrence after liver transplantation. Hepatology (2007) 2.66
The Molecular Biology Toolkit (MBT): a modular platform for developing molecular visualization applications. BMC Bioinformatics (2005) 2.60
Genome-wide genetic changes during modern breeding of maize. Nat Genet (2012) 2.60
A complete sequence of the T. tengcongensis genome. Genome Res (2002) 2.60
A new Mycobacterium species causing diffuse lepromatous leprosy. Am J Clin Pathol (2008) 2.59
Activation of the imprinted Dlk1-Dio3 region correlates with pluripotency levels of mouse stem cells. J Biol Chem (2010) 2.59
Deglutitive upper esophageal sphincter relaxation: a study of 75 volunteer subjects using solid-state high-resolution manometry. Am J Physiol Gastrointest Liver Physiol (2006) 2.57
Functions of adaptor protein (AP)-3 and AP-1 in tyrosinase sorting from endosomes to melanosomes. Mol Biol Cell (2005) 2.56
High-resolution manometry of the EGJ: an analysis of crural diaphragm function in GERD. Am J Gastroenterol (2007) 2.56
Predictors of left ventricular reverse remodeling after cardiac resynchronization therapy for heart failure secondary to idiopathic dilated or ischemic cardiomyopathy. Am J Cardiol (2003) 2.53
DNA methylation profile of tissue-dependent and differentially methylated regions (T-DMRs) in mouse promoter regions demonstrating tissue-specific gene expression. Genome Res (2008) 2.48
Variant of TYR and autoimmunity susceptibility loci in generalized vitiligo. N Engl J Med (2010) 2.47
Mutations in U4atac snRNA, a component of the minor spliceosome, in the developmental disorder MOPD I. Science (2011) 2.47
A drinking water crisis in Lake Taihu, China: linkage to climatic variability and lake management. Environ Manage (2010) 2.45
Hyperglycemia-induced apoptosis in mouse myocardium: mitochondrial cytochrome C-mediated caspase-3 activation pathway. Diabetes (2002) 2.44
Early use of noninvasive positive pressure ventilation for acute lung injury: a multicenter randomized controlled trial. Crit Care Med (2012) 2.43
Murine Hermansky-Pudlak syndrome genes: regulators of lysosome-related organelles. Bioessays (2004) 2.40
CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia. Eur J Hum Genet (2005) 2.37
GiardiaDB and TrichDB: integrated genomic resources for the eukaryotic protist pathogens Giardia lamblia and Trichomonas vaginalis. Nucleic Acids Res (2008) 2.35