Thirteen Chinese patients with sporadic Paget's disease of bone: clinical features, SQSTM1 mutation identification, and functional analysis.

PubWeight™: 0.77‹?›

🔗 View Article (PMID 22491873)

Published in J Bone Miner Metab on April 11, 2012

Authors

Jie-Mei Gu1, Zhen-Lin Zhang, Hao Zhang, Wei-Wei Hu, Chun Wang, Hua Yue, Yao-Hua Ke, Jin-Wei He, Yun-Qiu Hu, Miao Li, Yu-Juan Liu, Wen-Zhen Fu

Author Affiliations

1: Metabolic Bone Disease and Genetic Research Unit, Department of Osteoporosis and Bone Diseases, Shanghai Jiao Tong University Affiliated Sixth People's Hospital, Shanghai, 200233, China.

Articles cited by this

A rapid and sensitive method for the quantitation of microgram quantities of protein utilizing the principle of protein-dye binding. Anal Biochem (1976) 903.81

p62/SQSTM1 binds directly to Atg8/LC3 to facilitate degradation of ubiquitinated protein aggregates by autophagy. J Biol Chem (2007) 21.73

Homeostatic levels of p62 control cytoplasmic inclusion body formation in autophagy-deficient mice. Cell (2007) 14.63

p62, a phosphotyrosine-independent ligand of the SH2 domain of p56lck, belongs to a new class of ubiquitin-binding proteins. J Biol Chem (1996) 3.27

Recurrent mutation of the gene encoding sequestosome 1 (SQSTM1/p62) in Paget disease of bone. Am J Hum Genet (2002) 3.00

The atypical PKC-interacting protein p62 is an important mediator of RANK-activated osteoclastogenesis. Dev Cell (2004) 2.65

On a Form of Chronic Inflammation of Bones (Osteitis Deformans). Med Chir Trans (1877) 1.90

Domain-specific mutations in sequestosome 1 (SQSTM1) cause familial and sporadic Paget's disease. Hum Mol Genet (2002) 1.72

Incidence and natural history of Paget's disease of bone in England and Wales. J Bone Miner Res (2002) 1.37

Familial aggregation of Paget's disease of bone. J Bone Miner Res (1991) 1.26

Genetics of Paget's disease of bone. Clin Sci (Lond) (2005) 1.25

Sequestosome 1: mutation frequencies, haplotypes, and phenotypes in familial Paget's disease of bone. J Bone Miner Res (2006) 1.19

Paget's disease of bone: experience from a centre in southern India. J Assoc Physicians India (2006) 1.14

A point mutation in the ubiquitin-associated domain of SQSMT1 is sufficient to cause a Paget's disease-like disorder in mice. Hum Mol Genet (2011) 1.12

Paget's disease of bone in a Chinese patient: a case report and review of the literature. Oral Surg Oral Med Oral Pathol Oral Radiol Endod (2005) 1.11

Novel UBA domain mutations of SQSTM1 in Paget's disease of bone: genotype phenotype correlation, functional analysis, and structural consequences. J Bone Miner Res (2004) 1.09

Three novel mutations in SQSTM1 identified in familial Paget's disease of bone. J Bone Miner Res (2003) 1.08

Guidelines for diagnosis and management of Paget's disease of bone in Japan. J Bone Miner Metab (2006) 1.04

Paget's disease of bone: diagnosis and management. BMJ (1996) 0.98

Epidemiological aspects of Paget's disease: family history and relationship to other medical conditions. Semin Arthritis Rheum (1994) 0.98

Paget's disease of bone in the French population: novel SQSTM1 mutations, functional analysis, and genotype-phenotype correlations. J Bone Miner Res (2007) 0.95

A novel mutation (K378X) in the sequestosome 1 gene associated with increased NF-kappaB signaling and Paget's disease of bone with a severe phenotype. J Bone Miner Res (2006) 0.95

Paget's disease of bone: a review of 889 patients. Bone (1999) 0.93

Sequestosome 1 (SQSTM1) mutations in Paget's disease of bone from the United States. Calcif Tissue Int (2008) 0.92

Morbidity and mortality associated with Paget's disease of bone: a population-based study. J Bone Miner Res (2008) 0.92

Novel SQSTM1 mutations in patients with Paget's disease of bone in an unrelated multiethnic American population. Bone (2010) 0.91

A family study of Paget's disease of bone. J Epidemiol Community Health (1983) 0.90

Familial Paget's disease in The Netherlands: occurrence, identification of new mutations in the sequestosome 1 gene, and their clinical associations. Arthritis Rheum (2004) 0.89

Two novel mutations at exon 8 of the Sequestosome 1 (SQSTM1) gene in an Italian series of patients affected by Paget's disease of bone (PDB). J Bone Miner Res (2004) 0.89

Evidence for increased clinical severity of familial and sporadic Paget's disease of bone in Campania, southern Italy. J Bone Miner Res (2006) 0.88

Paget's disease of bone in Italy. J Bone Miner Res (2006) 0.88

Sequestosome 1 mutations in Paget's disease of bone in Australia: prevalence, genotype/phenotype correlation, and a novel non-UBA domain mutation (P364S) associated with increased NF-kappaB signaling without loss of ubiquitin binding. J Bone Miner Res (2009) 0.87

Paget's disease of bone (osteitis deformans). J Am Geriatr Soc (1998) 0.85

Paget's disease of bone: current concepts in pathogenesis and treatment. J Oral Pathol Med (1994) 0.82

Paget's disease of bone. Best Pract Res Clin Rheumatol (2003) 0.79

Early onset Paget's disease of bone caused by a novel mutation (78dup27) of the TNFRSF11A gene in a Chinese family. Acta Pharmacol Sin (2009) 0.78

Treatment of Paget's disease of bone: a survey of clinical practice in Australia. Bone (2008) 0.75

Articles by these authors

SOAPdenovo2: an empirically improved memory-efficient short-read de novo assembler. Gigascience (2012) 20.89

The sequence and de novo assembly of the giant panda genome. Nature (2009) 15.76

An abundance of rare functional variants in 202 drug target genes sequenced in 14,002 people. Science (2012) 7.94

Ancient human genome sequence of an extinct Palaeo-Eskimo. Nature (2010) 7.51

Stimulation of HIV-1-specific cytolytic T lymphocytes facilitates elimination of latent viral reservoir after virus reactivation. Immunity (2012) 6.29

Altered microRNA expression in human heart disease. Physiol Genomics (2007) 5.64

Superoxide reacts with hydroethidine but forms a fluorescent product that is distinctly different from ethidium: potential implications in intracellular fluorescence detection of superoxide. Free Radic Biol Med (2003) 5.14

Assemblathon 2: evaluating de novo methods of genome assembly in three vertebrate species. Gigascience (2013) 4.11

Activation of the PTEN/mTOR/STAT3 pathway in breast cancer stem-like cells is required for viability and maintenance. Proc Natl Acad Sci U S A (2007) 4.05

MicroRNA-mediated control of cell fate in megakaryocyte-erythrocyte progenitors. Dev Cell (2008) 3.84

Plant immunity requires conformational changes [corrected] of NPR1 via S-nitrosylation and thioredoxins. Science (2008) 3.43

Stability of the latent reservoir for HIV-1 in patients receiving valproic acid. J Infect Dis (2007) 3.39

Practice patterns in choice of left double-lumen tube size for thoracic surgery. Anesth Analg (2008) 3.25

Curated genome annotation of Oryza sativa ssp. japonica and comparative genome analysis with Arabidopsis thaliana. Genome Res (2007) 3.13

Distinct microRNA expression profiles in acute myeloid leukemia with common translocations. Proc Natl Acad Sci U S A (2008) 3.13

MicroRNA expression signatures accurately discriminate acute lymphoblastic leukemia from acute myeloid leukemia. Proc Natl Acad Sci U S A (2007) 3.00

Competing autonomic mechanisms precede the onset of postoperative atrial fibrillation. J Am Coll Cardiol (2003) 2.92

Dependence of T cell antigen recognition on T cell receptor-peptide MHC confinement time. Immunity (2010) 2.82

Small-molecule screening using a human primary cell model of HIV latency identifies compounds that reverse latency without cellular activation. J Clin Invest (2009) 2.75

A clinically relevant population of leukemic CD34(+)CD38(-) cells in acute myeloid leukemia. Blood (2012) 2.65

Association of JAG1 with bone mineral density and osteoporotic fractures: a genome-wide association study and follow-up replication studies. Am J Hum Genet (2010) 2.57

MicroRNA miR-125a controls hematopoietic stem cell number. Proc Natl Acad Sci U S A (2010) 2.53

Exome sequencing identifies ZNF644 mutations in high myopia. PLoS Genet (2011) 2.52

Mode of action of pyrazinamide: disruption of Mycobacterium tuberculosis membrane transport and energetics by pyrazinoic acid. J Antimicrob Chemother (2003) 2.44

MicroRNA dynamics in the stages of tumorigenesis correlate with hallmark capabilities of cancer. Genes Dev (2009) 2.41

Modulation of prostate cancer genetic risk by omega-3 and omega-6 fatty acids. J Clin Invest (2007) 2.26

Synthesis, molecular modeling, and biological evaluation of cinnamic acid metronidazole ester derivatives as novel anticancer agents. Bioorg Med Chem (2010) 2.25

Repair of Stanford type A aortic dissection with ascending aorta and hemiarch replacement combined with stent-graft elephant trunk technique by using innominate cannulation. J Thorac Cardiovasc Surg (2011) 2.21

Disulfiram reactivates latent HIV-1 in a Bcl-2-transduced primary CD4+ T cell model without inducing global T cell activation. J Virol (2011) 2.18

Pharmacological promotion of autophagy alleviates steatosis and injury in alcoholic and non-alcoholic fatty liver conditions in mice. J Hepatol (2013) 2.14

The Alzheimer's Disease Neuroimaging Initiative: Annual change in biomarkers and clinical outcomes. Alzheimers Dement (2010) 2.09

AIB1/SRC-3 deficiency affects insulin-like growth factor I signaling pathway and suppresses v-Ha-ras-induced breast cancer initiation and progression in mice. Cancer Res (2004) 2.07

pIRS: Profile-based Illumina pair-end reads simulator. Bioinformatics (2012) 2.00

Prognostic value of metabolic tumor burden on 18F-FDG PET in nonsurgical patients with non-small cell lung cancer. Eur J Nucl Med Mol Imaging (2011) 1.99

STAT3 regulates arginase-I in myeloid-derived suppressor cells from cancer patients. J Clin Invest (2013) 1.94

Relation of addiction genes to hypothalamic gene changes subserving genesis and gratification of a classic instinct, sodium appetite. Proc Natl Acad Sci U S A (2011) 1.89

Fatty acid amide hydrolase deficiency limits early pregnancy events. J Clin Invest (2006) 1.86

Isolated coronary artery bypass graft combined with bone marrow mononuclear cells delivered through a graft vessel for patients with previous myocardial infarction and chronic heart failure: a single-center, randomized, double-blind, placebo-controlled clinical trial. J Am Coll Cardiol (2011) 1.85

Interferon-alpha-induced TRAIL on natural killer cells is associated with control of hepatitis C virus infection. Gastroenterology (2010) 1.85

Statin use is associated with a reduction in atrial fibrillation after noncardiac thoracic surgery independent of C-reactive protein. Chest (2005) 1.85

COPE: an accurate k-mer-based pair-end reads connection tool to facilitate genome assembly. Bioinformatics (2012) 1.83

Preservation of FoxP3+ regulatory T cells in the peripheral blood of human immunodeficiency virus type 1-infected elite suppressors correlates with low CD4+ T-cell activation. J Virol (2008) 1.82

Surface charge affects cellular uptake and intracellular trafficking of chitosan-based nanoparticles. Biomacromolecules (2011) 1.79

Addiction related alteration in resting-state brain connectivity. Neuroimage (2009) 1.76

Leukocytosis and increased risk of atrial fibrillation after general thoracic surgery. Ann Thorac Surg (2006) 1.70

Hepatitis B virus X protein represses miRNA-148a to enhance tumorigenesis. J Clin Invest (2013) 1.68

MTA1, a transcriptional activator of breast cancer amplified sequence 3. Proc Natl Acad Sci U S A (2006) 1.66

Transcatheter closure of perimembranous ventricular septal defect in children: safety and efficiency with symmetric and asymmetric occluders. Catheter Cardiovasc Interv (2010) 1.61

Size-dependent in vivo toxicity of PEG-coated gold nanoparticles. Int J Nanomedicine (2011) 1.59

Performance bound for extended target tracking using high resolution sensors. Sensors (Basel) (2010) 1.57

A lack of default network suppression is linked to increased distractibility in ADHD. Brain Res (2009) 1.55

Susceptibility genes for osteoporotic fracture in postmenopausal Chinese women. J Bone Miner Res (2012) 1.54

Membrane orientation of the FMO antenna protein from Chlorobaculum tepidum as determined by mass spectrometry-based footprinting. Proc Natl Acad Sci U S A (2009) 1.53

Post-genome wide association studies and functional analyses identify association of MPP7 gene variants with site-specific bone mineral density. Hum Mol Genet (2011) 1.53

Macroscopic serosal classification predicts peritoneal recurrence for patients with gastric cancer underwent potentially curative surgery. Ann Surg Oncol (2010) 1.52

Activation of stress response gene SIRT1 by BCR-ABL promotes leukemogenesis. Blood (2011) 1.52

Estimates of global, regional, and national incidence, prevalence, and mortality of HIV, 1980-2015: the Global Burden of Disease Study 2015. Lancet HIV (2016) 1.51

Older age is the strongest predictor of postoperative atrial fibrillation. Anesthesiology (2002) 1.49

Protective effect of ethyl pyruvate on pancreas injury in rats with severe acute pancreatitis. J Surg Res (2012) 1.47

NMR spectroscopic studies of cellobiose solvation in EmimAc aimed to understand the dissolution mechanism of cellulose in ionic liquids. Phys Chem Chem Phys (2010) 1.46

Clinical prediction rule for atrial fibrillation after coronary artery bypass grafting. J Am Coll Cardiol (2004) 1.46

Homochiral Zn and Cd coordination polymers containing amino acid-tetrazole ligands. Inorg Chem (2003) 1.46

Genetic analysis of the promoter region of the GATA4 gene in patients with ventricular septal defects. Transl Res (2011) 1.45

One-stage anterior interbody autografting and instrumentation in primary surgical management of thoracolumbar spinal tuberculosis. Eur Spine J (2003) 1.45

Inflammation and outcome after general thoracic surgery. Eur J Cardiothorac Surg (2007) 1.45

Genome characterization of the oleaginous fungus Mortierella alpina. PLoS One (2011) 1.43

COMT gene haplotypes are closely associated with postoperative fentanyl dose in patients. Anesth Analg (2015) 1.43

A clinical prediction rule for pulmonary complications after thoracic surgery for primary lung cancer. Anesth Analg (2009) 1.43

Role of miR-1 and miR-133a in myocardial ischemic postconditioning. J Biomed Sci (2011) 1.39

A Novel Combined-Catheter to Monitor Left and Right Atrial Pressures: A Simple and Reliable Method for Pediatric Cardiac Surgery. Pediatr Crit Care Med (2016) 1.39

NF-kappaB pathway inhibitors preferentially inhibit breast cancer stem-like cells. Breast Cancer Res Treat (2007) 1.39

Hybrid therapy for pulmonary atresia with intact ventricular septum. Ann Thorac Surg (2011) 1.39

Cerebral ischemia-reperfusion-induced autophagy protects against neuronal injury by mitochondrial clearance. Autophagy (2013) 1.39

Human four-and-a-half LIM family members suppress tumor cell growth through a TGF-beta-like signaling pathway. J Clin Invest (2009) 1.39

Phycobilisomes supply excitations to both photosystems in a megacomplex in cyanobacteria. Science (2013) 1.37

Mesenchymal stem cells and cardiac repair. J Cell Mol Med (2008) 1.37

MicroRNA-133a, downregulated in osteosarcoma, suppresses proliferation and promotes apoptosis by targeting Bcl-xL and Mcl-1. Bone (2013) 1.36

Suppression of lysosome function induces autophagy via a feedback down-regulation of MTOR complex 1 (MTORC1) activity. J Biol Chem (2013) 1.35

Influence of host gene transcription level and orientation on HIV-1 latency in a primary-cell model. J Virol (2011) 1.34

Rescue of female infertility from the loss of cyclooxygenase-2 by compensatory up-regulation of cyclooxygenase-1 is a function of genetic makeup. J Biol Chem (2003) 1.32

Unexpected sequence types in livestock associated methicillin-resistant Staphylococcus aureus (MRSA): MRSA ST9 and a single locus variant of ST9 in pig farming in China. Vet Microbiol (2009) 1.32

Complete genome sequence of the probiotic Lactobacillus plantarum ST-III. J Bacteriol (2010) 1.32

Two-stage procedure protocol for minimally invasive plate osteosynthesis technique in the treatment of the complex pilon fracture. Int Orthop (2011) 1.32

A novel assay allows genotyping of the latent reservoir for human immunodeficiency virus type 1 in the resting CD4+ T cells of viremic patients. J Virol (2005) 1.32

Ferrihydrite containing gel for chemical imaging of labile phosphate species in sediments and soils using diffusive gradients in thin films. Anal Chem (2010) 1.30

Defect-rich MoS2 ultrathin nanosheets with additional active edge sites for enhanced electrocatalytic hydrogen evolution. Adv Mater (2013) 1.30

Pulse sensitivity of the luteinizing hormone beta promoter is determined by a negative feedback loop Involving early growth response-1 and Ngfi-A binding protein 1 and 2. Mol Endocrinol (2007) 1.30

Deletion of the cancer-amplified coactivator AIB3 results in defective placentation and embryonic lethality. J Biol Chem (2002) 1.30

A local outbreak of dengue caused by an imported case in Dongguan China. BMC Public Health (2012) 1.29

Caesium europium(III) polyphosphate, CsEu(PO(3))(4). Acta Crystallogr Sect E Struct Rep Online (2009) 1.29