Molecular genetic analysis of glycogen storage disease type Ia in 26 Chinese patients.

PubWeight™: 0.76‹?›

🔗 View Article (PMID 14765536)

Published in J Inherit Metab Dis on January 01, 2003

Authors

W J Qiu1, X F Gu, J Ye, L Sh Han, Y F Zhang, X Q Liu

Author Affiliations

1: Xinhua Hospital Affiliated to Shanghai Second Medical University, Shanghai Institute for Pediatric Research, Shanghai, China. wenjuan_qiu@sina.com

Articles by these authors

The sequence of the human genome. Science (2001) 101.55

The genome sequence of Drosophila melanogaster. Science (2000) 74.32

Regulated intramembrane proteolysis: a control mechanism conserved from bacteria to humans. Cell (2000) 8.29

Physical characterization of the herpes simplex virus latency-associated transcript in neurons. J Virol (1988) 4.85

Epidemiology and cause of severe acute respiratory syndrome (SARS) in Guangdong, People's Republic of China, in February, 2003. Lancet (2003) 3.66

Complementation cloning of S2P, a gene encoding a putative metalloprotease required for intramembrane cleavage of SREBPs. Mol Cell (1997) 3.29

The herpes simplex virus latency-associated transcript is spliced during the latent phase of infection. J Virol (1988) 3.22

A high phase-space-density gas of polar molecules. Science (2008) 2.61

Direct splitting of water under visible light irradiation with an oxide semiconductor photocatalyst. Nature (2001) 2.38

Protein trans-splicing by a split intein encoded in a split DnaE gene of Synechocystis sp. PCC6803. Proc Natl Acad Sci U S A (1998) 2.16

Quantum-state controlled chemical reactions of ultracold potassium-rubidium molecules. Science (2010) 2.15

Hospital-based surveillance of invasive pneumococcal disease and pneumonia in South Bangalore, India. Indian Pediatr (2015) 2.06

Apolipoprotein E fragments present in Alzheimer's disease brains induce neurofibrillary tangle-like intracellular inclusions in neurons. Proc Natl Acad Sci U S A (2001) 2.00

Transcatheter aortic valve implantation: lessons from the learning curve of the first 270 high-risk patients. Catheter Cardiovasc Interv (2011) 1.98

Relation of risk of systemic lupus erythematosus to west African admixture in a Caribbean population. Hum Genet (2003) 1.97

Interactions of phosphatidylinositol kinase, GTPase-activating protein (GAP), and GAP-associated proteins with the colony-stimulating factor 1 receptor. Mol Cell Biol (1990) 1.95

Regulation of endoplasmic reticulum cholesterol by plasma membrane cholesterol. J Lipid Res (1999) 1.92

Low-temperature in situ large strain plasticity of ceramic SiC nanowires and its atomic-scale mechanism. Nano Lett (2007) 1.91

Improved serodiagnosis of hepatitis C virus infection with synthetic peptide antigen from capsid protein. Proc Natl Acad Sci U S A (1991) 1.81

PERK promotes cancer cell proliferation and tumor growth by limiting oxidative DNA damage. Oncogene (2010) 1.77

The role of intramuscular lipid in insulin resistance. Acta Physiol Scand (2003) 1.70

Inhibition of TGF-beta receptor signaling in osteoblasts leads to decreased bone remodeling and increased trabecular bone mass. Development (1999) 1.69

Differentiation of convalescent animals from those vaccinated against foot-and-mouth disease by a peptide ELISA. Vaccine (1999) 1.61

Search for supersymmetry using final states with one lepton, jets, and missing transverse momentum with the ATLAS detector in √s=7 TeV pp collisions. Phys Rev Lett (2011) 1.60

Protein trans-splicing and cyclization by a naturally split intein from the dnaE gene of Synechocystis species PCC6803. J Biol Chem (2000) 1.53

Differentiation of the T helper phenotypes by analysis of the methylation state of the IFN-gamma gene. J Immunol (1994) 1.52

Image registration via level-set motion: applications to atlas-based segmentation. Med Image Anal (2003) 1.52

Myocardial ischemia decreases oxidative phosphorylation through cytochrome oxidase in subsarcolemmal mitochondria. Am J Physiol (1997) 1.51

Absolute requirement for an active immune response involving B cells and Th cells in immunity to Plasmodium yoelii passively acquired with antibodies to the 19-kDa carboxyl-terminal fragment of merozoite surface protein-1. J Immunol (1999) 1.46

Cholesterol movement in Niemann-Pick type C cells and in cells treated with amphiphiles. J Biol Chem (2000) 1.45

Protein trans-splicing and functional mini-inteins of a cyanobacterial dnaB intein. Biochim Biophys Acta (1998) 1.45

Identification of a cell protein (FIP-3) as a modulator of NF-kappaB activity and as a target of an adenovirus inhibitor of tumor necrosis factor alpha-induced apoptosis. Proc Natl Acad Sci U S A (1999) 1.42

Intravenous guanethidine in patients with reflex sympathetic dystrophy. Acta Anaesthesiol Scand (1996) 1.42

Observation of a centrality-dependent dijet asymmetry in lead-lead collisions at sqrt[S(NN)] =2.76 TeV with the ATLAS detector at the LHC. Phys Rev Lett (2010) 1.41

Aspartic acid at position 57 of the HLA-DQ beta chain in insulin-dependent diabetes mellitus: an association with one DRw9-DQw9 subtype in the Chinese population. Tissue Antigens (1991) 1.40

Transcatheter aortic valve implantation: durability of clinical and hemodynamic outcomes beyond 3 years in a large patient cohort. Circulation (2010) 1.39

Measurement of dijet azimuthal decorrelations in pp collisions at sqrt(s)=7  TeV. Phys Rev Lett (2011) 1.39

Circulation of cholesterol between lysosomes and the plasma membrane. J Biol Chem (1998) 1.38

Long-term high-titer neutralizing activity induced by octameric synthetic HIV-1 antigen. Science (1991) 1.36

Determination of the strange-quark density of the proton from ATLAS measurements of the W→ℓν and Z→ℓℓ cross sections. Phys Rev Lett (2012) 1.34

Search for new particles in two-jet final states in 7 TeV proton-proton collisions with the ATLAS detector at the LHC. Phys Rev Lett (2010) 1.32

Characterization of a self-splicing mini-intein and its conversion into autocatalytic N- and C-terminal cleavage elements: facile production of protein building blocks for protein ligation. Gene (1999) 1.29

Observation of associated near-side and away-side long-range correlations in sqrt[s(NN)]=5.02 TeV proton-lead collisions with the ATLAS detector. Phys Rev Lett (2013) 1.27

Multiple SH2-mediated interactions in v-src-transformed cells. Mol Cell Biol (1992) 1.27

Template to improve glycemic control without reducing adiposity or dietary fat. Am J Physiol Endocrinol Metab (2011) 1.25

Determining significant fold differences in gene expression analysis. Pac Symp Biocomput (2001) 1.25

RIG-E, a human homolog of the murine Ly-6 family, is induced by retinoic acid during the differentiation of acute promyelocytic leukemia cell. Proc Natl Acad Sci U S A (1996) 1.23

Distinctly different expression of cytokines and chemokines in the lungs of two H5N1 avian influenza patients. J Pathol (2008) 1.23

Role of electronic excitation in the amorphization of Ge-Sb-Te alloys. Phys Rev Lett (2011) 1.22

Analysis of clustered genes encoding both early and late steps in daunomycin biosynthesis by Streptomyces sp. strain C5. J Bacteriol (1995) 1.22

Mutations in the organic cation/carnitine transporter OCTN2 in primary carnitine deficiency. Proc Natl Acad Sci U S A (1999) 1.21

Smoking patterns among Chinese rural-urban migrant workers. Public Health (2009) 1.20

Search for dark matter candidates and large extra dimensions in events with a photon and missing transverse momentum in pp collision data at sqrt[s]=7 TeV with the ATLAS detector. Phys Rev Lett (2013) 1.19

The evolutionary history of carbamoyltransferases: A complex set of paralogous genes was already present in the last universal common ancestor. J Mol Evol (1999) 1.18

Therapeutic effects of bone marrow-derived mesenchymal stem cells engraftment on bleomycin-induced lung injury in rats. Transplant Proc (2008) 1.18

Overexpression and accumulation of apolipoprotein E as a cause of hypertriglyceridemia. J Biol Chem (1998) 1.17

Comparative analysis of gene expression profiles between the normal human cartilage and the one with endemic osteoarthritis. Osteoarthritis Cartilage (2008) 1.17

Osteoinduction: a review of old concepts with new standards. J Dent Res (2012) 1.15

Movement of 25-hydroxycholesterol from the plasma membrane to the rough endoplasmic reticulum in cultured hepatoma cells. J Lipid Res (1995) 1.15

AAV serotype-1 mediates early onset of gene expression in mouse hearts and results in better therapeutic effect. Gene Ther (2006) 1.15

Neuronal migration disorders increase susceptibility to hyperthermia-induced seizures in developing rats. Epilepsia (1996) 1.14

Search for a supersymmetric partner to the top quark in final states with jets and missing transverse momentum at sqrt[s] = 7 TeV with the ATLAS detector. Phys Rev Lett (2012) 1.13

Negative transcriptional regulation of the interferon-gamma promoter by glucocorticoids and dominant negative mutants of c-Jun. J Biol Chem (1995) 1.13

Inhibition of tumor promoter-mediated processes in mouse skin and bovine lens by caffeic acid phenethyl ester. Cancer Res (1993) 1.13

The active site structure of the calcium-containing quinoprotein methanol dehydrogenase. Biochemistry (1993) 1.13

The effect of elevated levels of herpes simplex virus alpha-gene products on the expression of model early and late genes in vivo. Virology (1987) 1.11

Comparison of two independent Sr optical clocks with 1×10(-17) stability at 10(3) s. Phys Rev Lett (2012) 1.10

Intranasal immunization with yeast-expressed 19 kD carboxyl-terminal fragment of Plasmodium yoelii merozoite surface protein-1 (yMSP119) induces protective immunity to blood stage malaria infection in mice. Parasite Immunol (1998) 1.10

The ability to manipulate speech sounds depends on knowing alphabetic writing. Cognition (1986) 1.10

Triglycerides, fatty acids and insulin resistance--hyperinsulinemia. Exp Clin Endocrinol Diabetes (2001) 1.09

The Chlamydomonas chloroplast clpP gene contains translated large insertion sequences and is essential for cell growth. Mol Gen Genet (1994) 1.08

Search for tb resonances in proton-proton collisions at √s=7 TeV with the ATLAS detector. Phys Rev Lett (2012) 1.07

New limits on coupling of fundamental constants to gravity using 87Sr optical lattice clocks. Phys Rev Lett (2008) 1.06

Phenotype and genotype variation in primary carnitine deficiency. Genet Med (2001) 1.06

Evidence that lipid peroxidation products bind to DNA in liver cells. Biochim Biophys Acta (1995) 1.06

Search for a light Higgs boson decaying to long-lived weakly interacting particles in proton-proton collisions at sqrt[s] = 7 TeV with the ATLAS detector. Phys Rev Lett (2012) 1.05

Reassembly of the tight junction after oxidative stress depends on tyrosine kinase activity. J Biol Chem (2001) 1.04

Dipolar collisions of polar molecules in the quantum regime. Nature (2010) 1.04

Physiology and Biotechnology of Aspergillus. Adv Appl Microbiol (2005) 1.03

Delivering the same optical frequency at two places: accurate cancellation of phase noise introduced by an optical fiber or other time-varying path. Opt Lett (1994) 1.03

Molecular mechanism of tumor necrosis factor-alpha production in 1-->3-beta-glucan (zymosan)-activated macrophages. J Biol Chem (2001) 1.02

Muscle long-chain acyl CoA esters and insulin resistance. Ann N Y Acad Sci (2002) 1.02

Immobilization of single-stranded deoxyribonucleic acid on gold electrode with self-assembled aminoethanethiol monolayer for DNA electrochemical sensor applications. Talanta (1998) 1.01

Acylation of glucosaminyl phosphatidylinositol revisited. Palmitoyl-CoA dependent palmitoylation of the inositol residue of a synthetic dioctanoyl glucosaminyl phosphatidylinositol by hamster membranes permits efficient mannosylation of the glucosamine residue. J Biol Chem (1996) 1.01

The role of hydroxyl radical as a messenger in Cr(VI)-induced p53 activation. Am J Physiol Cell Physiol (2000) 1.01

Interspecies variation in Candida biofilm formation studied using the Calgary biofilm device. APMIS (2006) 1.00

Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report. J Inherit Metab Dis (2007) 1.00

Noncoding transcripts in sense and antisense orientation regulate the epigenetic state of ribosomal RNA genes. Cold Spring Harb Symp Quant Biol (2011) 1.00

Search for supersymmetry in events with three leptons and missing transverse momentum in √[s]=7 TeV pp collisions with the ATLAS detector. Phys Rev Lett (2012) 0.99

Cavity opto-mechanics using an optically levitated nanosphere. Proc Natl Acad Sci U S A (2009) 0.99

Effect of natural antioxidant tanshinone II-A on DNA damage by lipid peroxidation in liver cells. Free Radic Biol Med (1996) 0.99

Mechanisms of chlorpyrifos and diazinon induced neurotoxicity in cortical culture. Neuroscience (2010) 0.99

Compact, thermal-noise-limited optical cavity for diode laser stabilization at 1x10(-15). Opt Lett (2007) 0.98

In vitro method to study antifungal perfusion in Candida biofilms. J Clin Microbiol (2005) 0.98

Transgenic sweet pepper plants fromAgrobacterium mediated transformation. Plant Cell Rep (1996) 0.98

In vitro cellular tropism of human T cell leukemia virus type 2. AIDS Res Hum Retroviruses (2000) 0.98

Axillary lymph node status, adjusted for pathologic complete response in breast and axilla after neoadjuvant chemotherapy, predicts differential disease-free survival in breast cancer. Curr Oncol (2013) 0.98

Aging increases ischemia-reperfusion injury in the isolated, buffer-perfused heart. J Lab Clin Med (1994) 0.97

The substituted amphetamines 3,4-methylenedioxymethamphetamine, methamphetamine, p-chloroamphetamine and fenfluramine induce 5-hydroxytryptamine release via a common mechanism blocked by fluoxetine and cocaine. Eur J Pharmacol (1992) 0.97