Identification of three missense mutations in the peroxisome proliferator-activated receptor alpha gene in Japanese subjects with maturity-onset diabetes of the young.

PubWeight™: 1.08‹?› | Rank: Top 10%

🔗 View Article (PMID 11355020)

Published in J Hum Genet on January 01, 2001

Authors

M Hara1, X Wang, V P Paz, N Iwasaki, M Honda, Y Iwamoto, G I Bell

Author Affiliations

1: Howard Hughes Medical Institute, The University of Chicago, IL 60637, USA. mhara@midway.uchicago.edu

Articles by these authors

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

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

Models for the specific adhesion of cells to cells. Science (1978) 28.03

Cytochrome c and dATP-dependent formation of Apaf-1/caspase-9 complex initiates an apoptotic protease cascade. Cell (1997) 24.57

Induction of apoptotic program in cell-free extracts: requirement for dATP and cytochrome c. Cell (1996) 16.73

Prevention of apoptosis by Bcl-2: release of cytochrome c from mitochondria blocked. Science (1997) 16.09

Bid, a Bcl2 interacting protein, mediates cytochrome c release from mitochondria in response to activation of cell surface death receptors. Cell (1998) 13.87

Coupling of stress in the ER to activation of JNK protein kinases by transmembrane protein kinase IRE1. Science (2000) 13.62

Polymorphic DNA region adjacent to the 5' end of the human insulin gene. Proc Natl Acad Sci U S A (1981) 12.86

Apaf-1, a human protein homologous to C. elegans CED-4, participates in cytochrome c-dependent activation of caspase-3. Cell (1997) 12.83

Orchestrated transcription of key pathways in Arabidopsis by the circadian clock. Science (2000) 12.35

Smac, a mitochondrial protein that promotes cytochrome c-dependent caspase activation by eliminating IAP inhibition. Cell (2000) 11.90

CHOP is implicated in programmed cell death in response to impaired function of the endoplasmic reticulum. Genes Dev (1998) 11.86

Purified hematopoietic stem cells can differentiate into hepatocytes in vivo. Nat Med (2000) 11.35

A polymorphic locus near the human insulin gene is associated with insulin-dependent diabetes mellitus. Diabetes (1984) 10.09

Tat-specific cytotoxic T lymphocytes select for SIV escape variants during resolution of primary viraemia. Nature (2000) 9.80

Genetic variation in the gene encoding calpain-10 is associated with type 2 diabetes mellitus. Nat Genet (2000) 8.33

Biochemical pathways of caspase activation during apoptosis. Annu Rev Cell Dev Biol (1999) 8.21

The highly polymorphic region near the human insulin gene is composed of simple tandemly repeating sequences. Nature (1982) 7.47

A rapid in vitro assay for quantitating the invasive potential of tumor cells. Cancer Res (1987) 7.43

Sequence, tissue distribution, and chromosomal localization of mRNA encoding a human glucose transporter-like protein. Proc Natl Acad Sci U S A (1988) 7.26

SREBP-1, a basic-helix-loop-helix-leucine zipper protein that controls transcription of the low density lipoprotein receptor gene. Cell (1993) 6.95

An APAF-1.cytochrome c multimeric complex is a functional apoptosome that activates procaspase-9. J Biol Chem (1999) 6.88

Molecular mechanisms and clinical pathophysiology of maturity-onset diabetes of the young. N Engl J Med (2001) 6.79

Mutations in the hepatocyte nuclear factor-4alpha gene in maturity-onset diabetes of the young (MODY1) Nature (1996) 6.72

A genome-wide search for human non-insulin-dependent (type 2) diabetes genes reveals a major susceptibility locus on chromosome 2. Nat Genet (1996) 6.58

HOLE: a program for the analysis of the pore dimensions of ion channel structural models. J Mol Graph (1996) 6.48

Endonuclease G is an apoptotic DNase when released from mitochondria. Nature (2001) 6.20

DFF, a heterodimeric protein that functions downstream of caspase-3 to trigger DNA fragmentation during apoptosis. Cell (1997) 5.95

Identification of a point mutation in the voltage-gated sodium channel gene of Kenyan Anopheles gambiae associated with resistance to DDT and pyrethroids. Insect Mol Biol (2000) 5.81

Sequence of the human insulin gene. Nature (1980) 5.76

Speech recognition in noise as a function of the number of spectral channels: comparison of acoustic hearing and cochlear implants. J Acoust Soc Am (2001) 5.75

Cell adhesion. Competition between nonspecific repulsion and specific bonding. Biophys J (1984) 5.72

A role for macrophage scavenger receptors in atherosclerosis and susceptibility to infection. Nature (1997) 5.55

The Ebola virus VP35 protein functions as a type I IFN antagonist. Proc Natl Acad Sci U S A (2000) 5.46

Genome-wide expression profiling of mid-gestation placenta and embryo using a 15,000 mouse developmental cDNA microarray. Proc Natl Acad Sci U S A (2000) 5.38

DNA microarray-mediated transcriptional profiling of the Escherichia coli response to hydrogen peroxide. J Bacteriol (2001) 5.35

Mutations in the hepatocyte nuclear factor-1alpha gene in maturity-onset diabetes of the young (MODY3) Nature (1996) 5.32

Ly-1 B cells: functionally distinct lymphocytes that secrete IgM autoantibodies. Proc Natl Acad Sci U S A (1984) 5.15

Effects of matrix metalloproteinase-9 gene knock-out on the proteolysis of blood-brain barrier and white matter components after cerebral ischemia. J Neurosci (2001) 4.99

Ribosomal RNA genes of Saccharomyces cerevisiae. I. Physical map of the repeating unit and location of the regions coding for 5 S, 5.8 S, 18 S, and 25 S ribosomal RNAs. J Biol Chem (1977) 4.76

Interleukin-13 induces tissue fibrosis by selectively stimulating and activating transforming growth factor beta(1). J Exp Med (2001) 4.71

SREBP-2, a second basic-helix-loop-helix-leucine zipper protein that stimulates transcription by binding to a sterol regulatory element. Proc Natl Acad Sci U S A (1993) 4.61

POWER_SAGE: comparing statistical tests for SAGE experiments. Bioinformatics (2000) 4.56

Noninvasive imaging of in vivo blood flow velocity using optical Doppler tomography. Opt Lett (1997) 4.48

SU5416 is a potent and selective inhibitor of the vascular endothelial growth factor receptor (Flk-1/KDR) that inhibits tyrosine kinase catalysis, tumor vascularization, and growth of multiple tumor types. Cancer Res (1999) 4.23

Mutation in hepatocyte nuclear factor-1 beta gene (TCF2) associated with MODY. Nat Genet (1997) 4.19

Association of genetic variation of the transforming growth factor-alpha gene with cleft lip and palate. Am J Hum Genet (1989) 4.13

Rapid transition of cardiac myocytes from hyperplasia to hypertrophy during postnatal development. J Mol Cell Cardiol (1996) 4.11

Ribosomal RNA genes of Saccharomyces cerevisiae. II. Physical map and nucleotide sequence of the 5 S ribosomal RNA gene and adjacent intergenic regions. J Biol Chem (1977) 4.03

Regulation of the calmodulin-stimulated protein phosphatase, calcineurin. J Biol Chem (1998) 4.02

Treatment of supraventricular tachycardia due to atrioventricular nodal reentry, by radiofrequency catheter ablation of slow-pathway conduction. N Engl J Med (1992) 3.95

Loci on chromosomes 2 (NIDDM1) and 15 interact to increase susceptibility to diabetes in Mexican Americans. Nat Genet (1999) 3.95

Interstitial cells of Cajal mediate cholinergic neurotransmission from enteric motor neurons. J Neurosci (2000) 3.95

Association of the Arabidopsis CTR1 Raf-like kinase with the ETR1 and ERS ethylene receptors. Proc Natl Acad Sci U S A (1998) 3.94

Multiple transcription-factor genes are early targets of phytochrome A signaling. Proc Natl Acad Sci U S A (2001) 3.91

Language comprehension in language-learning impaired children improved with acoustically modified speech. Science (1996) 3.84

The peptide antibiotic LL-37/hCAP-18 is expressed in epithelia of the human lung where it has broad antimicrobial activity at the airway surface. Proc Natl Acad Sci U S A (1998) 3.83

RFLPs for transforming growth factor alpha (TGFA) gene at 2p13. Nucleic Acids Res (1986) 3.72

Cell growth arrest and induction of cyclin-dependent kinase inhibitor p21 WAF1/CIP1 mediated by STAT1. Science (1996) 3.70

Self-terminating diffraction gates femtosecond X-ray nanocrystallography measurements. Nat Photonics (2012) 3.68

Structural basis of IAP recognition by Smac/DIABLO. Nature (2001) 3.66

Temporal and rate representations of time-varying signals in the auditory cortex of awake primates. Nat Neurosci (2001) 3.62

Analysis of the regions flanking the human insulin gene and sequence of an Alu family member. Nucleic Acids Res (1980) 3.55

Structural and biochemical basis of apoptotic activation by Smac/DIABLO. Nature (2000) 3.54

Human beta-defensin 2 is a salt-sensitive peptide antibiotic expressed in human lung. J Clin Invest (1998) 3.51

Complex HLA-DR and -DQ interactions confer risk of narcolepsy-cataplexy in three ethnic groups. Am J Hum Genet (2001) 3.51

Dark is a Drosophila homologue of Apaf-1/CED-4 and functions in an evolutionarily conserved death pathway. Nat Cell Biol (1999) 3.45

Association of Rab25 and Rab11a with the apical recycling system of polarized Madin-Darby canine kidney cells. Mol Biol Cell (1999) 3.45

Cytochrome c deficiency causes embryonic lethality and attenuates stress-induced apoptosis. Cell (2000) 3.39

Myocyte death in the failing human heart is gender dependent. Circ Res (1999) 3.38

The role of c-Jun N-terminal kinase (JNK) in apoptosis induced by ultraviolet C and gamma radiation. Duration of JNK activation may determine cell death and proliferation. J Biol Chem (1996) 3.38

Bestrophin, the product of the Best vitelliform macular dystrophy gene (VMD2), localizes to the basolateral plasma membrane of the retinal pigment epithelium. Proc Natl Acad Sci U S A (2000) 3.32

Selective stimulation of bifidobacteria in the human colon by oligofructose and inulin. Gastroenterology (1995) 3.26

Evidence for a family of human glucose transporter-like proteins. Sequence and gene localization of a protein expressed in fetal skeletal muscle and other tissues. J Biol Chem (1988) 3.18

Disease associations. Chance, artifact, or susceptibility genes? Diabetes (1989) 3.12

Human epidermal growth factor precursor: cDNA sequence, expression in vitro and gene organization. Nucleic Acids Res (1986) 3.11

Assignment of the membrane attachment, DNA binding, and transcriptional activation domains of sterol regulatory element-binding protein-1 (SREBP-1). J Biol Chem (1994) 3.09

Nuclear protein that binds sterol regulatory element of low density lipoprotein receptor promoter. I. Identification of the protein and delineation of its target nucleotide sequence. J Biol Chem (1993) 3.04

An infectious molecular clone of a Japanese genotype 1b hepatitis C virus. Hepatology (1999) 3.00

Structure of a mouse submaxillary messenger RNA encoding epidermal growth factor and seven related proteins. Science (1983) 2.97

Overexpression of insulin-like growth factor-1 in mice protects from myocyte death after infarction, attenuating ventricular dilation, wall stress, and cardiac hypertrophy. J Clin Invest (1997) 2.93

Mobile microbiome: oral bacteria in extra-oral infections and inflammation. J Dent Res (2013) 2.89

The Xenopus dorsalizing factor Gremlin identifies a novel family of secreted proteins that antagonize BMP activities. Mol Cell (1998) 2.89

The LiMB database. Science (1988) 2.89

Identification of two KH domain proteins in the alpha-globin mRNP stability complex. EMBO J (1995) 2.87

Nonsense mutation in the glucokinase gene causes early-onset non-insulin-dependent diabetes mellitus. Nature (1992) 2.86

Identification of an amino acid sequence in laminin mediating cell attachment, chemotaxis, and receptor binding. Cell (1987) 2.84

Cloning and characterization of the major insulin-responsive glucose transporter expressed in human skeletal muscle and other insulin-responsive tissues. J Biol Chem (1989) 2.81

The Tangier disease gene product ABC1 controls the cellular apolipoprotein-mediated lipid removal pathway. J Clin Invest (1999) 2.77

Mitochondrial endonuclease G is important for apoptosis in C. elegans. Nature (2001) 2.76

Cardiolipin provides specificity for targeting of tBid to mitochondria. Nat Cell Biol (2000) 2.74

Polymorphic human glucose transporter gene (GLUT) is on chromosome 1p31.3----p35. Diabetes (1987) 2.72

Radiofrequency catheter ablation of idiopathic left ventricular tachycardia guided by a Purkinje potential. Circulation (1993) 2.71

Pharmacological characterization of the cloned kappa-, delta-, and mu-opioid receptors. Mol Pharmacol (1994) 2.70