Published in Am J Med Genet A on August 30, 2004
The cardiac phenotype induced by PPARalpha overexpression mimics that caused by diabetes mellitus. J Clin Invest (2002) 4.22
Multiple organ pathology, metabolic abnormalities and impaired homeostasis of reactive oxygen species in Epas1-/- mice. Nat Genet (2003) 3.78
2-hydroxyglutarate detection by magnetic resonance spectroscopy in IDH-mutated patients with gliomas. Nat Med (2012) 3.30
TDP-43 in the ubiquitin pathology of frontotemporal dementia with VCP gene mutations. J Neuropathol Exp Neurol (2007) 2.97
Multifocal VZV vasculopathy with temporal artery infection mimics giant cell arteritis. Neurology (2013) 2.94
The mitochondrial inner membrane protein mitofilin controls cristae morphology. Mol Biol Cell (2005) 2.53
Novel ubiquitin neuropathology in frontotemporal dementia with valosin-containing protein gene mutations. J Neuropathol Exp Neurol (2006) 2.43
Prevalence of the alternative lengthening of telomeres telomere maintenance mechanism in human cancer subtypes. Am J Pathol (2011) 2.41
Granular cell tumor: immunohistochemical assessment of inhibin-alpha, protein gene product 9.5, S100 protein, CD68, and Ki-67 proliferative index with clinical correlation. Arch Pathol Lab Med (2004) 2.24
VZV multifocal vasculopathy with ischemic optic neuropathy, acute retinal necrosis and temporal artery infection in the absence of zoster rash. J Neurol Sci (2013) 2.00
HIF-2alpha regulates murine hematopoietic development in an erythropoietin-dependent manner. Blood (2004) 1.99
Fatty acid oxidation disorders. Annu Rev Physiol (2002) 1.96
Hepatic Hdac3 promotes gluconeogenesis by repressing lipid synthesis and sequestration. Nat Med (2012) 1.87
The aging kidney. Kidney Int (2008) 1.85
Respiratory syncytial virus induces pneumonia, cytokine response, airway obstruction, and chronic inflammatory infiltrates associated with long-term airway hyperresponsiveness in mice. J Infect Dis (2004) 1.83
Trex1 regulates lysosomal biogenesis and interferon-independent activation of antiviral genes. Nat Immunol (2012) 1.83
Varicella zoster virus in the temporal artery of a patient with giant cell arteritis. J Neurol Sci (2013) 1.83
Gene vaccination to bias the immune response to amyloid-beta peptide as therapy for Alzheimer disease. Arch Neurol (2004) 1.78
Very long-chain acyl-CoA dehydrogenase deficiency in a patient with normal newborn screening by tandem mass spectrometry. J Pediatr (2010) 1.75
The green tea polyphenol (-)-epigallocatechin-3-gallate ameliorates experimental immune-mediated glomerulonephritis. Kidney Int (2011) 1.72
Mechanism of hyperinsulinism in short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency involves activation of glutamate dehydrogenase. J Biol Chem (2010) 1.68
Surgical neuropathology update: a review of changes introduced by the WHO classification of tumours of the central nervous system, 4th edition. Arch Pathol Lab Med (2008) 1.61
Overexpression of CCS in G93A-SOD1 mice leads to accelerated neurological deficits with severe mitochondrial pathology. Proc Natl Acad Sci U S A (2007) 1.60
Sphingolipid-based drugs selectively kill cancer cells by down-regulating nutrient transporter proteins. Biochem J (2011) 1.59
Absence of expression of SMARCB1/INI1 in malignant rhabdoid tumors of the central nervous system, kidneys and soft tissue: an immunohistochemical study with implications for diagnosis. Mod Pathol (2006) 1.53
Rosette formation within a proliferative nodule of an atypical combined melanocytic nevus in an adult. Am J Dermatopathol (2003) 1.50
Second-opinion magnetic resonance imaging for suspected fetal central nervous system abnormalities. Am J Obstet Gynecol (2003) 1.49
Targeting the apoptotic machinery in pancreatic cancers using small-molecule antagonists of the X-linked inhibitor of apoptosis protein. Mol Cancer Ther (2007) 1.49
A randomized trial of the effects of antibiotic prophylaxis on epidural-related fever in labor. Anesth Analg (2014) 1.46
Dural lesions mimicking meningiomas. Hum Pathol (2002) 1.45
Atypical multiple system atrophy is a new subtype of frontotemporal lobar degeneration: frontotemporal lobar degeneration associated with α-synuclein. Acta Neuropathol (2015) 1.42
Assessment of a method to expel intraperitoneal gas after gynecologic laparoscopy. J Minim Invasive Gynecol (2005) 1.41
Monocytopenia as a diagnostic clue to pediatric B-lymphoblastic leukemia with rare circulating blasts. Pediatr Dev Pathol (2014) 1.40
Correlation between preoperative staging computerized tomography and pathological findings after nodal sampling in children with Wilms tumor. J Urol (2012) 1.40
Hyperinsulinism in infancy and childhood: when an insulin level is not always enough. Clin Chem (2007) 1.37
Diagnostic utility of SALL4 in extragonadal yolk sac tumors: an immunohistochemical study of 59 cases with comparison to placental-like alkaline phosphatase, alpha-fetoprotein, and glypican-3. Am J Surg Pathol (2009) 1.37
Loss of BAP1 protein expression is an independent marker of poor prognosis in patients with low-risk clear cell renal cell carcinoma. Cancer (2013) 1.36
A mouse model of rhabdomyosarcoma originating from the adipocyte lineage. Cancer Cell (2012) 1.32
High-resolution array CGH identifies common mechanisms that drive embryonal rhabdomyosarcoma pathogenesis. Genes Chromosomes Cancer (2011) 1.31
Informatics training in pathology residency programs: proposed learning objectives and skill sets for the new millennium. Arch Pathol Lab Med (2003) 1.27
Mycoplasma pneumoniae induces chronic respiratory infection, airway hyperreactivity, and pulmonary inflammation: a murine model of infection-associated chronic reactive airway disease. Infect Immun (2002) 1.26
Protocol for the examination of specimens from patients with tumors of the brain/spinal cord. Arch Pathol Lab Med (2008) 1.25
Glucose metabolism via the pentose phosphate pathway, glycolysis and Krebs cycle in an orthotopic mouse model of human brain tumors. NMR Biomed (2012) 1.23
Clear cell odontogenic carcinoma: a diagnostic and therapeutic dilemma. World J Surg Oncol (2006) 1.22
Disseminated acanthamebiasis in a renal transplant recipient with osteomyelitis and cutaneous lesions: case report and literature review. Clin Infect Dis (2002) 1.14
Carnitine palmitoyltransferase II deficiency: a clinical, biochemical, and molecular review. Lab Invest (2003) 1.13
Proliferative nodules arising within congenital melanocytic nevi: a histologic, immunohistochemical, and molecular analyses of 43 cases. Am J Surg Pathol (2011) 1.11
Human placenta metabolizes fatty acids: implications for fetal fatty acid oxidation disorders and maternal liver diseases. Am J Physiol Endocrinol Metab (2003) 1.11
CLN3P, the Batten's disease protein, is a novel palmitoyl-protein Delta-9 desaturase. Ann Neurol (2006) 1.08
Antimicrobial and immunologic activities of clarithromycin in a murine model of Mycoplasma pneumoniae-induced pneumonia. Antimicrob Agents Chemother (2003) 1.07
Molecular and phenotypic heterogeneity in mitochondrial trifunctional protein deficiency due to beta-subunit mutations. Hum Mutat (2003) 1.07
Atypical and malignant hidradenomas: a histological and immunohistochemical study. Mod Pathol (2009) 1.06
Persistence of placenta previa according to gestational age at ultrasound detection. Obstet Gynecol (2002) 1.06
Abeta42 gene vaccination reduces brain amyloid plaque burden in transgenic mice. J Neurol Sci (2006) 1.05
Role of short-chain hydroxyacyl CoA dehydrogenases in SCHAD deficiency. Biochem Biophys Res Commun (2007) 1.04
Short-chain acyl-coenzyme A dehydrogenase deficiency. Mol Genet Metab (2008) 1.03
Intratumoral expression level of epidermal growth factor receptor and cytokeratin 5/6 is significantly associated with nodal and distant metastases in patients with basal-like triple-negative breast carcinoma. Am J Clin Pathol (2010) 1.03
Alveolar rhabdomyosarcoma-associated PAX3-FOXO1 promotes tumorigenesis via Hippo pathway suppression. J Clin Invest (2013) 1.02
Hypothyroid myopathy with a strikingly elevated serum creatine kinase level. Muscle Nerve (2002) 1.02
PTC124 improves readthrough and increases enzymatic activity of the CPT1A R160X nonsense mutation. J Inherit Metab Dis (2011) 1.01
Regulation of glucagon secretion in normal and diabetic human islets by γ-hydroxybutyrate and glycine. J Biol Chem (2012) 1.00
Diagnostic utility of SALL4 in primary germ cell tumors of the central nervous system: a study of 77 cases. Mod Pathol (2009) 1.00
Phosphorylated histone H3, Ki-67, p21, fatty acid synthase, and cleaved caspase-3 expression in benign and atypical granular cell tumors. Arch Pathol Lab Med (2007) 0.99
Adverse effects of simulated hyper- and hypo-phosphatemia on endothelial cell function and viability. PLoS One (2011) 0.99
Hydramnios: anomaly prevalence and sonographic detection. Obstet Gynecol (2002) 0.98
Establishment and characterization of a cancer cell line derived from an aggressive childhood liver tumor. Pediatr Blood Cancer (2009) 0.98
Spontaneous development of intestinal and colonic atrophy and inflammation in the carnitine-deficient jvs (OCTN2(-/-)) mice. Mol Genet Metab (2007) 0.98
Green tea polyphenols control dysregulated glutamate dehydrogenase in transgenic mice by hijacking the ADP activation site. J Biol Chem (2011) 0.98
Is ferroportin-hepcidin signaling altered in restless legs syndrome? J Neurol Sci (2006) 0.97
Immunohistochemical expression of embryonic stem cell markers in malignant rhabdoid tumors. Pediatr Dev Pathol (2011) 0.96
A lean laboratory: operational simplicity and cost effectiveness of the Luminex xTAG™ respiratory viral panel. J Mol Diagn (2011) 0.96
Evaluation of a rapid and completely automated real-time reverse transcriptase PCR assay for diagnosis of enteroviral meningitis. J Clin Microbiol (2010) 0.95
Immunoexpression of SALL4 in Wilms tumors and developing kidney. Pathol Oncol Res (2011) 0.95
The genetics of very early onset Alzheimer disease. Cogn Behav Neurol (2007) 0.94
Pathological review of Wilms tumor nephrectomy specimens and potential implications for nephron sparing surgery in Wilms tumor. J Urol (2012) 0.94
Mutation in the type IB bone morphogenetic protein receptor Alk6b impairs germ-cell differentiation and causes germ-cell tumors in zebrafish. Proc Natl Acad Sci U S A (2011) 0.94
Primary mucinous adenocarcinoma of the thymus: a case report and review of the literature. Arch Pathol Lab Med (2006) 0.94
The function of CLN3P, the Batten disease protein. Mol Genet Metab (2008) 0.93
Measurement of tissue acyl-CoAs using flow-injection tandem mass spectrometry: acyl-CoA profiles in short-chain fatty acid oxidation defects. Mol Genet Metab (2012) 0.93
Giant cell tumor of the skin: a morphologic and immunohistochemical study of five cases. Ann Diagn Pathol (2002) 0.92
CPT2 gene mutations resulting in lethal neonatal or severe infantile carnitine palmitoyltransferase II deficiency. Mol Genet Metab (2008) 0.92
CLN3P, the Batten disease protein, localizes to membrane lipid rafts (detergent-resistant membranes). Biochem Biophys Res Commun (2004) 0.92
Pediatric laboratory medicine: current challenges and future opportunities. Am J Clin Pathol (2002) 0.92
Differential expression of genes in amyotrophic lateral sclerosis revealed by profiling the post mortem cortex. Amyotroph Lateral Scler (2006) 0.91
Characterization of inflammation in syphilitic villitis and in villitis of unknown etiology. Pediatr Dev Pathol (2004) 0.91
Fatty acid synthase expression in cutaneous melanocytic neoplasms. Mod Pathol (2005) 0.91
A zebrafish transgenic model of Ewing's sarcoma reveals conserved mediators of EWS-FLI1 tumorigenesis. Dis Model Mech (2011) 0.90
Giant fibrovascular polyp of the esophagus. A lesion causing upper airway obstruction and syncope. Arch Pathol Lab Med (2003) 0.89
Oncologic outcomes of partial versus radical nephrectomy for unilateral Wilms tumor. Pediatr Blood Cancer (2011) 0.88
Mechanisms underlying metabolic and neural defects in zebrafish and human multiple acyl-CoA dehydrogenase deficiency (MADD). PLoS One (2009) 0.88
Congenital hairy polyp of the palatopharyngeus muscle. Case Rep Otolaryngol (2013) 0.88
Fetal MRI of urine and meconium by gestational age for the diagnosis of genitourinary and gastrointestinal abnormalities. AJR Am J Roentgenol (2005) 0.88
Fetal central nervous system biometry on MR imaging. AJR Am J Roentgenol (2003) 0.87
Over-expression of CLN3P, the Batten disease protein, inhibits PANDER-induced apoptosis in neuroblastoma cells: further evidence that CLN3P has anti-apoptotic properties. Mol Genet Metab (2006) 0.87