Published in Clin Gastroenterol Hepatol on January 01, 2006
The fundamental basis of inflammatory bowel disease. J Clin Invest (2007) 6.84
Disorders of lysosome-related organelle biogenesis: clinical and molecular genetics. Annu Rev Genomics Hum Genet (2008) 2.83
The diagnostic approach to monogenic very early onset inflammatory bowel disease. Gastroenterology (2014) 1.63
Pirfenidone for the treatment of Hermansky-Pudlak syndrome pulmonary fibrosis. Mol Genet Metab (2011) 1.13
High levels of Crohn's disease-associated anti-microbial antibodies are present and independent of colitis in chronic granulomatous disease. Clin Immunol (2010) 1.01
Clinical and cellular characterisation of Hermansky-Pudlak syndrome type 6. J Med Genet (2009) 0.98
An immunoblotting assay to facilitate the molecular diagnosis of Hermansky-Pudlak syndrome. Mol Genet Metab (2007) 0.94
New insights into gastrointestinal and hepatic granulomatous disorders. Nat Rev Gastroenterol Hepatol (2011) 0.87
Hermansky-Pudlak syndrome in two African-American brothers. Am J Med Genet A (2009) 0.79
Complicated Crohn's-like colitis, associated with Hermansky-Pudlak syndrome, treated with Infliximab: a case report and brief review of the literature. J Med Case Rep (2007) 0.76
A Novel Splice Site Mutation in HPS1 Gene is Associated with Hermansky-Pudlak Syndrome-1 (HPS1) in an Iranian Family. Int J Mol Cell Med (2016) 0.75
Two Complex Cases of Hermansky-Pudlak Syndrome Highlight a Potential Biologic Explanation for an Associated Crohn's Disease Phenotype. ACG Case Rep J (2017) 0.75
Case Report : Hermansky Pudlak Syndrome (Presenting as late onset heavy Menstrual Bleeding). J Clin Diagn Res (2013) 0.75
Hermansky-Pudlak Syndrome. Clin Chest Med (2016) 0.75
Inflammatory Bowel Disease in Primary Immunodeficiencies. Curr Allergy Asthma Rep (2017) 0.75
Anti-interleukin-12 antibody for active Crohn's disease. N Engl J Med (2004) 7.93
Enterocolitis in patients with cancer after antibody blockade of cytotoxic T-lymphocyte-associated antigen 4. J Clin Oncol (2006) 7.40
The fundamental basis of inflammatory bowel disease. J Clin Invest (2007) 6.84
Natural history of alkaptonuria. N Engl J Med (2002) 5.32
Nonclassical CD1d-restricted NK T cells that produce IL-13 characterize an atypical Th2 response in ulcerative colitis. J Clin Invest (2004) 5.14
An autoinflammatory disease with deficiency of the interleukin-1-receptor antagonist. N Engl J Med (2009) 4.97
Composition of the adult digestive tract bacterial microbiome based on seven mouth surfaces, tonsils, throat and stool samples. Genome Biol (2012) 4.68
Gigantism and acromegaly due to Xq26 microduplications and GPR101 mutation. N Engl J Med (2014) 4.00
Effect of the MDM2 antagonist RG7112 on the P53 pathway in patients with MDM2-amplified, well-differentiated or dedifferentiated liposarcoma: an exploratory proof-of-mechanism study. Lancet Oncol (2012) 3.35
Pathological findings in a patient with Fabry disease who died after 2.5 years of enzyme replacement. Virchows Arch (2005) 2.45
Unsupervised analysis of transcriptomic profiles reveals six glioma subtypes. Cancer Res (2009) 2.42
Characteristics of congenital hepatic fibrosis in a large cohort of patients with autosomal recessive polycystic kidney disease. Gastroenterology (2012) 2.33
Protein microarrays: meeting analytical challenges for clinical applications. Cancer Cell (2003) 2.32
Retracted A BLOC-1 mutation screen reveals that PLDN is mutated in Hermansky-Pudlak Syndrome type 9. Am J Hum Genet (2011) 2.25
Mortality increases after massive exchange transfusion with older stored blood in canines with experimental pneumonia. Blood (2012) 2.22
Succinate dehydrogenase mutation underlies global epigenomic divergence in gastrointestinal stromal tumor. Cancer Discov (2013) 2.11
Retro-orbital injections in mice. Lab Anim (NY) (2011) 2.09
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
Gray platelet syndrome: natural history of a large patient cohort and locus assignment to chromosome 3p. Blood (2010) 2.00
Cellular and tissue localization of globotriaosylceramide in Fabry disease. Virchows Arch (2007) 1.91
Functional analyses of glycyl-tRNA synthetase mutations suggest a key role for tRNA-charging enzymes in peripheral axons. J Neurosci (2006) 1.87
Detecting false-positive signals in exome sequencing. Hum Mutat (2012) 1.87
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
Nephropathic cystinosis: late complications of a multisystemic disease. Pediatr Nephrol (2008) 1.72
Hermansky-Pudlak syndrome type 4 (HPS-4): clinical and molecular characteristics. Hum Genet (2003) 1.69
T-cell-expressed proprotein convertase furin is essential for maintenance of peripheral immune tolerance. Nature (2008) 1.68
Ethyl pyruvate decreased early nuclear factor-kappaB levels but worsened survival in lipopolysaccharide-challenged mice. Crit Care Med (2008) 1.62
Causes of death in hyper-IgE syndrome. J Allergy Clin Immunol (2007) 1.61
Hermansky-Pudlak syndrome (HPS5) in a nonagenarian. J AAPOS (2013) 1.52
The ultrastructure of camel blood platelets: a comparative study with human, bovine, and equine cells. Platelets (2008) 1.52
Molecular defects that affect platelet dense granules. Semin Thromb Hemost (2004) 1.52
Absence of simian virus 40 in human brain tumors from northern India. Int J Cancer (2002) 1.50
Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria. Nat Genet (2011) 1.48
Cellular defects in Chediak-Higashi syndrome correlate with the molecular genotype and clinical phenotype. J Invest Dermatol (2007) 1.47
Hermansky-Pudlak syndrome: radiography and CT of the chest compared with pulmonary function tests and genetic studies. AJR Am J Roentgenol (2002) 1.45
Effects of heat on camel platelet structure and function-a comparative study with humans. Platelets (2008) 1.43
Rab7 and Rab27a control two motor protein activities involved in melanosomal transport. Pigment Cell Res (2006) 1.39
NBEAL2 is mutated in gray platelet syndrome and is required for biogenesis of platelet α-granules. Nat Genet (2011) 1.38
The BEACH is hot: a LYST of emerging roles for BEACH-domain containing proteins in human disease. Traffic (2013) 1.35
Genomic aberrations in pediatric diffuse intrinsic pontine gliomas. Neuro Oncol (2011) 1.31
Slc7a11 gene controls production of pheomelanin pigment and proliferation of cultured cells. Proc Natl Acad Sci U S A (2005) 1.28
Interstitial lung disease and pulmonary fibrosis in Hermansky-Pudlak syndrome type 2, an adaptor protein-3 complex disease. Mol Med (2012) 1.26
DNA variations in oculocutaneous albinism: an updated mutation list and current outstanding issues in molecular diagnostics. Hum Mutat (2013) 1.25
Downregulation of myelination, energy, and translational genes in Menkes disease brain. Mol Genet Metab (2005) 1.24
Subependymoma revisited: clinicopathological evaluation of 83 cases. J Neurooncol (2007) 1.23
Accurate diagnosis of acute graft-versus-host disease using serum proteomic pattern analysis. Exp Hematol (2006) 1.23
A pilot feasibility study of TNFerade™ biologic with capecitabine and radiation therapy followed by surgical resection for the treatment of rectal cancer. Oncology (2011) 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
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
Excess IL-12 but not IL-23 accompanies the inflammatory bowel disease associated with common variable immunodeficiency. Gastroenterology (2006) 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
Short report: A calcified Taenia solium granuloma associated with recurrent perilesional edema causing refractory seizures: histopathological features. Am J Trop Med Hyg (2011) 1.15
Alveolar macrophage dysregulation in Hermansky-Pudlak syndrome type 1. Am J Respir Crit Care Med (2009) 1.15
Biochemical and genetic analysis of 3-methylglutaconic aciduria type IV: a diagnostic strategy. Brain (2008) 1.13
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
Rab27b is up-regulated in human Griscelli syndrome type II melanocytes and linked to the actin cytoskeleton via exon F-Myosin Va transcripts. Pigment Cell Res (2004) 1.08
PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis. Mol Genet Metab (2009) 1.07
Intravenous immune globulin in hereditary inclusion body myopathy: a pilot study. BMC Neurol (2007) 1.07
Pathology of the future: molecular profiling for targeted therapy. Cancer Invest (2005) 1.06
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
1,25-(OH)2D-24 Hydroxylase (CYP24A1) Deficiency as a Cause of Nephrolithiasis. Clin J Am Soc Nephrol (2013) 1.04
Spinal adrenal cortical adenoma with oncocytic features: report of the first intramedullary case and review of the literature. Int J Surg Pathol (2004) 1.03
Quantal release of serotonin from platelets. Anal Chem (2009) 1.03
The secretory small GTPase Rab27B as a marker for breast cancer progression. Oncotarget (2010) 1.01
Melanocyte-specific proteins are aberrantly trafficked in melanocytes of Hermansky-Pudlak syndrome-type 3. Am J Pathol (2005) 1.01
Succinate dehydrogenase (SDH) D subunit (SDHD) inactivation in a growth-hormone-producing pituitary tumor: a new association for SDH? J Clin Endocrinol Metab (2011) 1.00
Early alveolar epithelial dysfunction promotes lung inflammation in a mouse model of Hermansky-Pudlak syndrome. Am J Respir Crit Care Med (2011) 1.00
MKS3-related ciliopathy with features of autosomal recessive polycystic kidney disease, nephronophthisis, and Joubert Syndrome. J Pediatr (2009) 1.00
Critical role of membrane cholesterol in exocytosis revealed by single platelet study. ACS Chem Biol (2010) 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
Infantile-onset spinal muscular atrophy with respiratory distress-1 diagnosed in a 20-year-old man. Neuromuscul Disord (2011) 0.98
Adenine nucleotide translocator 1 deficiency associated with Sengers syndrome. Ann Neurol (2002) 0.97
Corticotropin-producing pulmonary gangliocytic paraganglioma associated with Cushing's syndrome. Hum Pathol (2006) 0.97
Blood-nanoparticle interactions and in vivo biodistribution: impact of surface PEG and ligand properties. Mol Pharm (2012) 0.96
Dysregulation of galectin-3. Implications for Hermansky-Pudlak syndrome pulmonary fibrosis. Am J Respir Cell Mol Biol (2014) 0.96
A novel nomogram for peritoneal mesothelioma predicts survival. Ann Surg Oncol (2012) 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
Transfusion of older stored blood worsens outcomes in canines depending on the presence and severity of pneumonia. Transfusion (2014) 0.95
Milder ocular findings in Hermansky-Pudlak syndrome type 3 compared with Hermansky-Pudlak syndrome type 1. Ophthalmology (2004) 0.95
A model of Costeff Syndrome reveals metabolic and protective functions of mitochondrial OPA3. Development (2010) 0.94
An immunoblotting assay to facilitate the molecular diagnosis of Hermansky-Pudlak syndrome. Mol Genet Metab (2007) 0.94
Electrochemical measurement of endogenous serotonin release from human blood platelets. Anal Chem (2011) 0.94
Serum proteomics in cancer diagnosis and management. Annu Rev Med (2004) 0.93
Hereditary inclusion body myopathy: single patient response to intravenous dosing of GNE gene lipoplex. Hum Gene Ther (2011) 0.93
Serglycin proteoglycan deletion induces defects in platelet aggregation and thrombus formation in mice. Blood (2007) 0.93
The BLOS1-interacting protein KXD1 is involved in the biogenesis of lysosome-related organelles. Traffic (2012) 0.92